Pubmed abstracts for Protein-Protein Interaction search result :

Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :1.0586397
Polycystin 2 can interact with the transmembrane protein polycystin 1 , the product of the PKD 1 gene . 1.0586397^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :1.1129527
Using highly specific antibodies to both proteins , we show that polycystin 2 associates selectively with two species of full length polycystin 1 , one Endo H sensitive and the other Endo H resistant ; importantly , the latter could be further enriched in plasma membrane fractions and co immunoprecipitated with polycystin 2 . 1.1129527^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.59349086
Polycystin 2 has distant homology to TRP cation channels and associates directly with polycystin 1 . 0.59349086^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.63723585
PKD 1 encodes polycystin , a large glycoprotein that contains several extracellular motifs indicative of a role in cell cell or cell matrix interactions , and the PKD 2 encodes a protein with homology to a voltage activated calcium channel and to PKD 1 . 0.63723585^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.69249807
Comparisons were made between the PKD 1 and PKD 2 populations and with a control PKD 1 cohort ( without the vascular phenotype ) . 0.69249807^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The gene encodes an integral membrane protein , polycystin 2 , that shows amino acid similarity to the PKD 1 gene product and to the family of voltage activated calcium ( and sodium ) channels . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The proteins encoded by the PKD 1 and PKD 2 genes , polycystin 1 and polycystin 2 , are membrane proteins , capable of interacting physically in vitro , and are likely components of a complex signalling pathway . ^^^ Immunohistochemical studies have shown that polycystin 1 and polycystin 2 are developmentally regulated and are overexpressed in polycystic kidneys . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Two of the genes ( PKD 1 and PKD 2 ) have now been isolated and sequenced , and based on their predicted structures are thought to encode proteins ( polycystin 1 and polycystin 2 ) that function together as part of a multi component membrane spanning complex involved in cell cell or cell matrix interactions . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The truncated polycystin 2 is predicted to lack the calcium binding EF hand domain and two cytoplasmic domains required for the homodimerization of polycystin 2 with itself and for the heterodimerization of polycystin 2 with polycystin 1 . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 and polycystin 2 are the products of PKD 1 and PKD 2 , genes that are mutated in most cases of autosomal dominant polycystic kidney disease . ^^^ Polycystin 1 and polycystin 2 are the products of PKD 1 and PKD 2 , genes that are mutated in most cases of autosomal dominant polycystic kidney disease . ^^^ It has been suggested that polycystin 2 may function as a subunit of an ion channel whose activity is regulated by polycystin 1 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The ADPKD genes encode proteins , polycystin 1 and polycystin 2 , which are very different in size and structure , but which have a region of homology and may interact as part of the same complex . ^^^ Polycystin 2 ( approximately 110 kDa ) is related to polycystin 1 and voltage activated and transient receptor potential channel subunits , suggesting that the polycystins may also be associated with ion transport . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Although these genes may not be involved in renal cystic diseases , their striking homology to PKD 2 and PKD 1 implies similar roles and may contribute to elucidating the function of both polycystin 1 and polycystin 2 . . ^^^ Both genes encode for putative transmembrane proteins , polycystin 1 and polycystin 2 , which show significant homology to each other and are believed to interact at their carboxy termini . ^^^ The third gene , PKDREJ , encodes a putative 2253 amino acid protein and shows about 35 % similarity to both polycystin 1 and polycystin 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The similarity in the clinical presentation and evidence of direct interaction between the COOH termini of polycystin 1 and polycystin 2 , the respective gene products , suggest that both proteins act in the same molecular pathway . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In this study , the cellular and subcellular distribution of polycystin 2 is defined and compared with polycystin 1 . ^^^ Immunohistochemical staining and immunofluorescence microscopy localized polycystin 2 to the basolateral plasma membrane of kidney tubular epithelial cells compared with the junctional localization of polycystin 1 . ^^^ Differences in the developmental , cellular , and subcellular expression of polycystin 1 and polycystin 2 suggest that they may be able to function independently of each other in addition to a potential in vivo interaction via their C termini . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In three unrelated families , insertion or deletion of an adenosine in a polyadenosine tract ( i . e . , ( A ) 8 at nt 2152 2159 ) was found on exon 11 , suggesting that this mononucleotide repeat tract is prone to mutations from `` slipped strand mispairing . ' ' All mutations , scattered between exons 1 and 11 , are predicted to result in a truncated polycystin 2 that lacks both the calcium binding EF hand domain and the two cytoplasmic domains required for the interaction of polycystin 2 with polycystin 1 and with itself . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In PKD 2 cystic kidney and liver , we find polycystin 2 expression in the majority of cysts , although a significant minority are negative , a pattern mirrored by the PKD 1 protein . ^^^ The continued expression of polycystin 2 in PKD 2 cysts is similar to that seen by polycystin 1 in PKD 1 cysts , but contrasts with the reported absence of polycystin 2 expression in the renal cysts of Pkd2+ / mice . ^^^ Coordinate expression of the autosomal dominant polycystic kidney disease proteins , polycystin 2 and polycystin 1 , in normal and cystic tissue . ^^^ In normal kidney , expression of polycystin 2 strikingly parallels that of polycystin 1 , with prominent expression by maturing proximal and distal tubules during development , but with a more pronounced distal pattern in adult life . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Most recent advances are focused on the function of the respective protein products , polycystin 1 and polycystin 2 . ^^^ High level polycystin 2 expression in renal epithelial cells coincides with maturation and elongation of tubules and , unlike polycystin 1 , persists into adulthood . ^^^ In cells in tissue culture , polycystin 2 is expressed exclusively in the endoplasmic reticulum whilst the cellular expression of polycystin 1 remains unknown . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
However , these expectations have not yet been fulfilled , since the function of both polycystin 1 and polycystin 2 , the two proteins encoded by PKD 1 and PKD 2 , still remains a puzzle . ^^^ In this review , we will highlight some of the characteristics of polycystic kidney disease , briefly touch on polycystin 1 , and then go on to describe recent results of experiments with polycystin 2 , since the latter is the major focus of our work . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The gene products , polycystin 1 and polycystin 2 , are trans membranous glycoproteins and are considered to be involved in signalling pathways , in cooperation with additional partners . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
To determine whether the vascular expression of polycystin 2 is similar to that of polycystin 1 , the expression of PKD 2 mRNA and protein in cultured pig aortic VSMC was studied and immunofluorescence and immunohistochemistry were used to study the localization of polycystin 2 in cultured pig aortic VSMC , pig ascending thoracic aorta , and normal elastic and intracranial arteries and intracranial aneurysms obtained at autopsy from patients without or with ADPKD . ^^^ The similar expression of polycystin 1 and polycystin 2 in the vascular smooth muscle is consistent with the proposed interaction of these proteins in a single pathway . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
PKD 1 is thought to encode a membrane protein , polycystin 1 , involved in cell cell or cell matrix interactions , whereas the PKD 2 gene product , polycystin 2 , is thought to be a channel protein . ^^^ PKD 1 is thought to encode a membrane protein , polycystin 1 , involved in cell cell or cell matrix interactions , whereas the PKD 2 gene product , polycystin 2 , is thought to be a channel protein . ^^^ We also show that polycystin 2 is localized in the cell in the absence of polycystin 1 , but is translocated to the plasma membrane in its presence . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
This region is specific to polycystin 2 and does not crossreact with polycystin 1 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The discovery of direct PKD 1 and PKD 2 interactions implies that both gene products , polycystin 1 and polycystin 2 , play a functional role in the same molecular complex . ^^^ Recently , studies on the expression patterns of PKD 1 and PKD 2 in humans or mice indicate that polycystin 1 and polycystin 2 seem to have their own respective functional roles , even though most of the functions of these polycystins are parallel during human and mouse development . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 , polycystin 2 and polycystin L are the predicted protein products of the PKD 1 , PKD 2 and PKDL genes , respectively . ^^^ Polycystin 1 , polycystin 2 and polycystin L are the predicted protein products of the PKD 1 , PKD 2 and PKDL genes , respectively . ^^^ Whilst the predicted protein domain structure of polycystin 1 suggests it is involved in cell cell or cell matrix interactions , the similarity of polycystin 2 and polycystin L to the pore forming domains of some cation channels suggests that they all form subunits of a large plasma membrane ion channel . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
It has recently been demonstrated that polycystin 1 and polycystin 2 ( encoded by PKD 1 and PKD 2 , respectively ) assemble to form a cation channel in vitro [ 4 ] . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
This expression coincides with the onset of cyst formation in Pkd 1 ( del 34 ) / , Pkd 1 ( L ) / , and Pkd 2 / mice , supporting the hypothesis that polycystin 1 and polycystin 2 interact in vivo and that their failure to do so leads to abnormalities in tubule morphology and function . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Constitutive activation of G proteins by polycystin 1 is antagonized by polycystin 2 . ^^^ Polycystin 1 ( PC 1 ) , a 4 , 303 amino acid integral membrane protein of unknown function , interacts with polycystin 2 ( PC 2 ) , a 968 amino acid alpha type channel subunit . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Homozygous deletion of Pkd 1 or Pkd 2 , the genes encoding polycystin 1 and polycystin 2 , disrupt normal renal tubular differentiation in mice but do not affect the early steps of renal development . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 and polycystin 2 are the products of PKD 1 and PKD 2 , genes that are mutated in most cases of autosomal dominant polycystic kidney disease . ^^^ Polycystin 1 and polycystin 2 are the products of PKD 1 and PKD 2 , genes that are mutated in most cases of autosomal dominant polycystic kidney disease . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Most cases result from mutations of PKD 1 or PKD 2 encoding polycystin 1 or polycystin 2 , respectively . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The discovery that mutations in the PKD 1 and PKD 2 genes are responsible for ADPKD has sparked extensive research efforts into the physiological and pathogenetic role of polycystin 1 and polycystin 2 , the proteins encoded by these two genes . ^^^ While polycystin 1 may mediate the contact among cells or between cells and the extracellular matrix , a lot of evidence suggests that polycystin 2 represents an endoplasmic reticulum bound cation channel . ^^^ Since in vitro polycystin 1 and polycystin 2 interact through their COOH termini , the two proteins possibly act in a common pathway , which controls the width of renal tubules . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 activates and stabilizes the polycystin 2 channel . ^^^ Polycystin 2 interacts through its cytoplasmic carboxyl terminal region with a coiled coil motif in the cytoplasmic tail of polycystin 1 ( P1CC ) . ^^^ R742X , a disease causing polycystin 2 mutant lacking the polycystin 1 interacting region , fails to respond to P1CC . ^^^ The modulation of polycystin 2 channel activity by polycystin 1 may be important for the various biological processes mediated by this molecular complex . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Previous studies proposed a role for human polycystin 1 in renal morphogenesis acting as a matrix receptor in focal adhesions and for polycystin 2 as a putative calcium channel [ 2 , 3 ] . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Here , we show that polycystin 1 ( PC 1 ) and polycystin 2 ( PC 2 ) , proteins respectively encoded by Pkd 1 and Pkd 2 , mouse orthologs of genes mutated in human autosomal dominant PKD , co distribute in the primary cilia of kidney epithelium . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The PKD 1 and PKD 2 genes responsible for ADPKD and their respective encoded proteins polycystin 1 and polycystin 2 are under intense study and clues are developing as to their function and roles in the disease process . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Most cases ( > 95 % ) are caused by genetic mutations in either the PKD 1 or the PKD 2 gene , or both , which encode polycystin 1 and polycystin 2 , respectively . ^^^ PURPOSE OF REVIEW : During the past 2 years growing evidence has emerged that polycystins ( polycystin 1 and polycystin 2 ) are ion channels or regulators of ion channels . ^^^ RECENT FINDINGS : The precise functions of polycystin 1 and polycystin 2 are unclear . ^^^ However , recent work has revealed that polycystin 1 may induce or modulate ion channels , including polycystin 2 channels , and that polycystin 2 functions as a calcium regulated , calcium permeable cation channel on the endoplasmic reticulum or on the plasma membrane with polycystin 1 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The polycystic kidney disease proteins , polycystin 1 , polycystin 2 , polaris , and cystin , are co localized in renal cilia . ^^^ In Caenorhabditis elegans , the protein orthologues of the PKD related proteins , polycystin 1 ( LOV 1 ) , polycystin 2 ( PKD 2 ) , and polaris ( OSM 5 ) , co localize in the cilia of male specific sensory neurons , and defects in these proteins cause abnormalities of cilia structure and / or function . ^^^ The data demonstrate co localization in cilia of polycystin 1 and polycystin 2 , which are the principal proteins involved in autosomal dominant polycystic kidney disease , with polaris and cystin , which are proteins that are disrupted in the Tg 737 ( orpk ) and cpk mouse models of autosomal recessive polycystic kidney disease , respectively . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
To study the putative functions of polycystin 1 , conditionally immortalized kidney cells transgenic for PKD 1 were generated and an interaction between transgenic polycystin 1 and endogenous polycystin 2 has been recently demonstrated in these cells . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in PKD 1 and PKD 2 , which encode the transmembrane proteins polycystin 1 ( PC 1 ) and polycystin 2 ( PC 2 ) respectively , account for almost all cases of ADPKD . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in PKD 1 and PKD 2 , the genes that encode polycystin 1 and polycystin 2 respectively , account for almost all cases of autosomal dominant polycystic kidney disease . ^^^ Polycystin 1 distribution is modulated by polycystin 2 expression in mammalian cells . ^^^ In an effort to understand this apparent discrepancy , we investigated how changes in polycystin 2 expression can affect the subcellular localization of polycystin 1 . ^^^ When co expressed with polycystin 2 , however , polycystin 1 is not seen at the cell surface and co localizes completely with polycystin 2 in the endoplasmic reticulum . ^^^ The localization of a polycystin 1 fusion protein was similarly affected by changes in its level of expression relative to that of polycystin 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
It was demonstrated that the expression of polycystin 1 is developmentally regulated , whereas polycystin 2 has a more constant level of expression . ^^^ A polycystin 1 subpopulation was immunoprecipitated by polycystin 2 , indicating an in vivo interaction of these two proteins . ^^^ Analysis with glycosidase and cell surface biotinylation indicates that some polycystin 1 products , but not polycystin 2 , are located on the plasma membrane . ^^^ Immunofluorescence showed that most of the polycystin 1 and polycystin 2 was cytoplasmic but that persistent polycystin 1 staining was located in proximity to the cell surface after a Triton 10 extraction , whereas no clear surface localization of polycystin 2 was detected . ^^^ Immuno gold electron microscopy revealed that polycystin 1 was localized at the plasma membrane and sarcoplasmic reticulum , whereas polycystin 2 was mainly located in the sarcoplasmic reticulum . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
These genes encode two proteins , polycystin 1 and polycystin 2 . ^^^ B Yoder and colleagues ( J Am Soc Nephrol 2002 ; 13 : 2508 16 ) show that polycystin 1 and polycystin 2 are localised to primary cilia in cultured renal epithelial cells . ^^^ S Nauli and colleagues ( Nat Genet 2003 ; 33 : 129 37 ) show that polycystin 1 and polycystin 2 function as flow sensitive mechanosensors in the same signal transduction pathway . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 2 , encoded by PKD 2 , is a ion channel that requires polycystin 1 to translocate to the plasma membrane . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations to the prototypical members of the two general classes of polycystins , polycystin 1 encoded by PKD 1 and polycystin 2 encoded by PKD 2 , underlie autosomal dominant polycystic kidney disease . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Regulation of intracellular Ca ( 2+ ) mobilization has been associated with the functions of polycystin 1 ( PC 1 ) and polycystin 2 ( PC 2 ) , the protein products of the PKD 1 and PKD 2 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 2 , the product of the second gene mutated in ADPKD , modulates the signaling properties of the polycystin 1 CTT . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
This translocation appears to be modulated by polycystin 2 , with which polycystin 1 is thought to interact . ^^^ These findings provide what we believe to be the first evidence that polycystin 1 can signal directly to the nucleus and that polycystin 1 polycystin 2 interactions do not require colocalization of these proteins in the same membrane compartment . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in either polycystin 2 ( PC 2 ) or polycystin 1 ( PC 1 ) proteins cause severe , potentially lethal , kidney disorders ( autosomal dominant polycystic kidney disease , ADPKD ) and multiple extrarenal disease phenotypes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutated genes , polycystin 1 and polycystin 2 , are identified , and evidence has emerged that polycystins are ion channels or regulators of ion channels . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Altered distribution and co localization of polycystin 2 with polycystin 1 in MDCK cells after wounding stress . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The protein products of the genes causing PKD , polycystin 1 and polycystin 2 , are thought to regulate intracellular calcium levels , suggesting that abnormal polycystin function may affect calcium signaling and thus cause a switch to the cAMP growth stimulated phenotype . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystic kidney disease ( PKD ) is caused by mutations in two genes , PKD 1 and PKD 2 , which encode for the proteins , polycystin 1 ( PC 1 ) and polycystin 2 ( PC 2 ) , respectively . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Loss of function mutations in either of two polycystin proteins , polycystin 1 or polycystin 2 , give rise to ADPKD . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The NPHP 1 , NPHP 2 , PKD 1 , and PKD 2 protein products ( nephrocystin 1 , nephrocystin 2 or inversin , polycystin 1 , and polycystin 2 , respectively ) localize to primary cilia of renal epithelia . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
We show that the Ca2+ permeable cation channel , polycystin 2 , as well as polycystin 1 , a receptor that forms a functional protein complex with polycystin 2 , distinctively localize to primary cilia emerging from granulosa cells of antral follicles in vivo and in vitro . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Loss of function mutations in either polycystin 2 , a non selective cation channel , or polycystin 1 ( PKD 1 ) , a large plasma membrane integral protein , give rise to ADPKD . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 is a large membrane associated protein that interacts with polycystin 2 in the primary cilia of renal epithelial cells to form a mechanosensitive ion channel . ^^^ Antibodies to polycystin 1 and polycystin 2 abolish this activation . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
However , the connections between elevated epithelial Cl ( ) secretion and loss of function or dysregulation of either ADPKD gene polycystin 1 ( PC 1 ) or polycystin 2 ( PC 2 ) remain little understood . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A splice form of polycystin 2 , lacking exon 7 , does not interact with polycystin 1 . ^^^ The inability to interact with polycystin 1 expands further the PKD 1 independent functions of polycystin 2 forms . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Loss or mutation of polycystin 1 or polycystin 2 , the respective proteins encoded by the ADPKD genes PKD 1 and PKD 2 , is associated with most cases of ADPKD . ^^^ Recent studies indicate that polycystin 1 is involved in these processes , but little is known about the role played by polycystin 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations involving chromosomes 16 and 4 accounting for autosomal dominant polycystic kidney disease ( ADPKD ) type 1 and type 2 have been well described as have their gene products , polycystin 1 and polycystin 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 acts as a ( mechano ) receptor of environmental signals , and polycystin 2 as a calcium channel mediating intracellular transduction . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Loss of polycystin 1 or polycystin 2 results in dysregulated apolipoprotein expression in murine tissues via alterations in nuclear hormone receptors . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 and polycystin 2 regulate the cell cycle through the helix loop helix inhibitor Id 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In primary cilia of kidney cells , the transient receptor potential polycystin ( TRPP ) channels polycystin 1 ( PC 1 ) and polycystin 2 ( PC 2 ) act as a mechanosensitive channel , with defects resulting in autosomal dominant polycystic kidney disease . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 2 traffics to cilia independently of polycystin 1 by using an N terminal RVxP motif . ^^^ The affected proteins , polycystin 1 ( PC 1 ) and polycystin 2 ( PC 2 ) , interact with each other and are expressed in cilia . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 and polycystin 2 are involved in autosomal dominant polycystic kidney disease by unknown mechanisms . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A significant proportion of cysts still expressed the cystic renal disease proteins , polycystin 1 , polycystin 2 , fibrocystin and uromodulin , implying that cyst formation may result from a deregulation of cell cell adhesion and / or the Wnt / beta catenin signaling pathway . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystin 1 regulates a number of cellular processes through the formation of complexes with the polycystin 2 ion channel or with other signal transduction proteins . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In the genetics area , the gene for PKD 1 was localised to chromosome 16 , is associated with polycystin 2 protein , and found to account for approximately 85 % of patients with ADPKD . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is caused by genetic mutations in either PKD 1 or PKD 2 , the genes that encode polycystin 1 ( PC 1 ) and polycystin 2 ( PC 2 ) , respectively . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The fluid flow induced changes in [ Ca2+ ] 1 and cAMP levels were significantly reduced or abolished when cilia were removed by chloral hydrate or when ciliary associated proteins polycystin 1 ( a mechanoreceptor ) , polycystin 2 ( a Ca2+ channel ) , and the Ca2+ inhibitable adenylyl cyclase isoform 6 were individually down regulated by small interfering RNAs . ^^^ CONCLUSIONS : Cholangiocyte cilia are sensory organelles containing polycystin 1 , polycystin 2 , and adenylyl cyclase isoform 6 through which luminal fluid flow affects both [ Ca2+ ] 1 and cAMP signaling in the cell . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Most patients with autosomal dominant polycystic kidney disease ( ADPKD ) harbor mutations truncating polycystin 1 ( PC 1 ) or polycystin 2 ( PC 2 ) , products of the PKD 1 and PKD 2 genes , respectively . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
This reduction was also found in PKD 1 LCLs but without PC 2 reductions . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
ADPKD is caused by mutations in the PKD 1 and PKD 2 genes , encoding the transmembrane proteins polycystin 1 ( PC 1 ) and polycystin 2 ( PC 2 ) , respectively . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A TRPP 1 ( polycystin 1 ) PC 2 channel complex is actually implicated in the transduction of environmental signals ( i . e . luminal tubular fluid flow and composition ) into cellular events , such as epithelial cell growth . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Ten members of the family were previously typed using five DNA markers linked to the PKD 1 locus on chromosome 16 , and one marker linked to the putative PKD 2 locus on chromosome 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Results obtained at 0 . 21 M initial ionic strength and 26 degrees C were corrected to 25 degrees C yielding pKD 1 = 8 . 28 + / 0 . 04 , pKD 2 = 9 . 88 + / 0 . 07 , and pKD 3 = 11 . 58 + / 0 . 03 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
We consider the evidence that in these families the disease might result from a mutation at a different locus , PKD 2 , not linked to PKD 1 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The B . caldotenax lct gene was efficiently expressed in E . coli and the original lct containing plasmid construct isolated ( pKD 1 ) induced the synthesis of LDH at a level of 4 . 5 % of the E . coli soluble cell protein whilst a SmaI subfragment of this clone , ( pKD 2 ) produced LDH at a level of 6 . 9 % of the E . coli soluble cell protein . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Two loci implicated in the disease have previously been mapped ( PKD 1 on chromosome 16 and PKD 2 on chromosome 4 ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Renal cysts developed at an earlier age in PKD 1 mutation carriers , and end stage renal failure occurred at an older age in people affected with PKD 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Three loci have been identified , PKD 1 on the short arm of chromosome 16 , which has recently been isolated and characterized , PKD 2 on the long arm of chromosome 4 , and a third locus of unknown location , that is apparently much rarer . ^^^ In families that transmit the PKD 2 gene there is a significantly later age of onset of symptoms , compared with families that transmit the PKD 1 gene , and in general they present with milder progression of symptomatology . ^^^ For the first time we attempted molecular genetic analysis in seven Cypriot families using highly polymorphic markers around the PKD 1 and PKD 2 genes . ^^^ In two of these families linkage to PKD 1 was strengthened by excluding linkage to PKD 2 with the use of marker D4S423 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A total of 128 affected and 59 unaffected individuals , and 54 spouses have been investigated using eight polymorphic markers linked to PKD 1 and nine markers to PKD 2 . ^^^ In one family , two double recombinants for closely linked markers on chromosome 16 and on chromosome 4 give evidence for the lack of linkage to either PKD 1 or PKD 2 , thus suggesting the involvement of a third locus . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The fraction of APKD resulting from loci unlinked to PKD 1 ( designated PKD 2 here ) was calculated at 2 . 94 % ( upper confidence limit 8 . 62 % ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Linkage analysis was performed in 10 family members , of whom four were affected , using six flanking DNA markers tightly linked to the PKD 1 locus on chromosome 16p , and one marker linked to the putative PKD 2 locus on chromosome 2p . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD , using DNA markers linked to the PKD 1 and PKD 2 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
We describe a family with definitely isolated PLD transmitted through three generations and exclude the linkage of the disease to the genetic markers of PKD 1 and PKD 2 , the two main loci responsible for ADPKD . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The PKD 2 protein has amino acid similarity with PKD 1 , the Caenorhabditis elegans homolog of PKD 1 , and the family of voltage activated calcium ( and sodium ) channels , and it contains a potential calcium binding domain . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD 1 and PKD 2 linked markers in Cypriot families . ^^^ One on chromosome 16 , PKD 1 , accounts for 85 90 % of all cases , and the PKD 2 gene on chromosome 4 accounts for the remainder . ^^^ We used PKD 1 and PKD 2 linked polymorphic markers to make the diagnosis of ADPKD in young presymptomatic members in affected families . ^^^ In conclusion , the combined use of markers around the PKD 1 and the PKD 2 locus provides more definitive answers in cases where presymptomatic diagnosis is requested by concerned families . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A set of directed linkage strategies indicates that the distinctive GCKD phenotype in this family results from a dominantly acting mutation that disrupts a genetic locus distinct from the ADPKD loci , PKD 1 and PKD 2 , as well the human homologue of mouse jcpk mutation , a newly described murine GCKD . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The prevalence of pancreatic cysts , sonographically assessed in ADPKD and in the different typs of ADPKD ( PKD 1 and PKD 2 ) has not been reported . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In a few families ADPKD is not caused by a mutation in either the PKD 1 or the PKD 2 gene . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The gene responsible for PKD in Han : SPRD cy / + rat is neither PKD 1 , localised on human chromosome 16 , nor PKD 2 , localised on human chromosome 4 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD 1 or PKD 2 gene . ^^^ We describe a family with autosomal dominant polycystic kidney disease in which molecular typing with closely linked markers for the PKD 1 and PKD 2 genes indicated absence of linkage . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
PKD 1 interacts with PKD 2 through a probable coiled coil domain . ^^^ We describe a previously unrecognized coiled coil domain within the C terminus of the PKD 1 gene product , polycystin , and demonstrate that it binds specifically to the C terminus of PKD 2 . ^^^ We show that naturally occurring pathogenic mutations of PKD 1 and PKD 2 disrupt their associations . ^^^ Our data suggest that PKD 1 and PKD 2 associate physically in vivo and may be partners of a common signalling cascade involved in tubular morphogenesis . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A total of 336 subjects , 267 at risk for the disease , were investigated using three microsatellites linked to polycystic kidney disease Type 1 ( PKD 1 ) and three microsatellites linked to PKD 2 . ^^^ Analysis of clinical data in the PKD 1 group ( N = 146 ) versus the PKD 2 group ( N = 20 ) showed a milder form of the disease in the latter , with a later age at diagnosis ( 27 . 4 versus 41 . 4 yr , P = 0 . 0002 ) , later age of onset of ESRD ( 53 . 4 versus 72 . 7 yr , P < 0 . 0001 ) , later age of diagnosis of hypertension ( 34 . 8 versus 49 . 7 yr , P = 0 . 001 ) and lower prevalence of hypertension at younger ages . ^^^ No signs of imprinting were found in this study , and the only gender effect was an earlier age of onset of ESRD in men than in women ( 49 . 5 versus 53 . 1 yr in PKD 1 , P < 0 . 01 and 70 . 57 versus 73 . 6 yr in PKD 2 , P = 0 . 1 ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A gene similar to PKD 1 maps to chromosome 4q22 : a candidate gene for PKD 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is caused by mutations in at least three different genes : PKD 1 , PKD 2 , and PKD 3 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The majority of cases are due to mutation of the PKD 1 gene , on 16p13 . 3 , while in most of the remainder the disease maps to the PKD 2 locus , at chromosome 4q21 q 23 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
ADPKD comprises at least three phenotypically indistinguishable but genetically distinct entities , caused by mutations in three autosomal genes : PKD 1 ( chromosome 16p13 . 3 ) is present in about 85 % of patients ; PKD 2 ( chromosome 4q13q23 ) in 10 % ; PKD 3 ( unknown chromosome ) in a few families . ^^^ It is not yet known whether the mutations identified so far in PKD 1 and PKD 2 inactivate the genes or generate an aberrant product . ^^^ The products of PKD 1 and PKD 2 genes have been called polycystin 1 and 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
PKD 1 gene , localized on chromosome 16 , responds for the clinical course in the majority of ADPKD patients , whereas PKD 2 gene , localized on chromosome 4 , is responsible for less than 10 15 % of cases , with presumed milder phenotypic manifestations . ^^^ Families with PKD 1 ( n = 44 ) represented 95 . 6 % and families with PKD 2 ( n = 2 ) 4 . 4 % of all families investigated ( n = 46 ) . ^^^ Our clinical analysis , yet based only on a limited number of PKD 2 subjects , does not definitely support the concept of a milder phenotype and prognosis in PKD 2 versus PKD 1 patients , in terms of mean age of diagnosis ( 29 vs . 29 years ) , mean age at onset of arterial hypertension ( 33 vs . 33 years ) , more favourable renal function or ultrasound findings . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD 1 ( 16p ) or PKD 2 ( 4q ) genes . ^^^ Most families show positive linkage to polymorphic markers around the PKD 1 ( 16p13 . 3 ) or PKD 2 ( 4q21 23 ) loci . ^^^ The PKD 1 and PKD 2 genes have been cloned and mutations defined in a number of patients . ^^^ We identified a Spanish family with negative linkage to the PKD 1 and the PKD 2 loci . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Two causal genes for polycystic kidney disease , PKD 1 and PKD 2 , that are responsible for greater than 95 % of cases of autosomal dominant polycystic kidney disease , have been identified and sequenced . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Up to three loci are involved in this disease , PKD 1 on chromosome 16p13 . 3 , PKD 2 on 4q21 , and a third locus of unknown location . ^^^ Eleven families showed linkage to PKD 1 and one family showed linkage to PKD 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Genes of numerous monogenic hereditary renal disorders have been identified during the last few years by one of these approaches , particularly , the PKD 1 and PKD 2 genes involved in autosomal dominant polycystic kidney disease , as well as the genes encoding different type 4 collagen alpha chains , responsible for Alport syndrome . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
BACKGROUND : Although autosomal dominant polycystic kidney disease type 2 ( PKD 2 ) is known to have a milder clinical phenotype than PKD 1 , neither disorder has been compared with an unaffected control population in terms of survival . ^^^ We report the findings of a multicentre survey that aimed to define more precisely the survival and clinical expression of PKD 1 and PKD 2 . ^^^ METHODS : Clinical data from 333 people with PKD 1 ( 31 families ) were compared with data from 291 people with PKD 2 ( 31 families ) and 398 geographically matched controls . ^^^ FINDINGS : Median age at death or onset of end stage renal disease was 53 . 0 years ( 95 % CI 51 . 2 54 . 8 ) in individuals with PKD 1 , 69 . 1 years ( 66 . 9 71 . 3 ) in those with PKD 2 , and 78 . 0 years ( 73 . 8 82 . 2 ) in controls . ^^^ Women with PKD 2 had a significantly longer median survival than men ( 71 . 0 [ 67 . 4 74 . 8 ] vs 67 . 3 [ 64 . 9 69 . 7 ] years ) , but no sex influence was apparent in PKD 1 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The function ( s ) of the genes ( PKD 1 and PKD 2 ) responsible for the majority of cases of autosomal dominant polycystic kidney disease is unknown . ^^^ While PKD 1 encodes a large integral membrane protein containing several structural motifs found in known proteins involved in cell cell or cell matrix interactions , PKD 2 has homology to PKD 1 and the major subunit of the voltage activated Ca2+ channels . ^^^ One domain involves a minimal region of 73 amino acids in the C terminal cytoplasmic tail of PKD 2 shown previously to constitute an interacting domain with PKD 1 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Patients were subdivided in respect of glomerular filtration rate ( GFR ) as follows : PKD 1 group ( normal GFR ) , PKD 2 group ( moderately reduced GFR ) , and PKD 3 ( severely reduced GFR ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
BACKGROUND : Two genes causing autosomal dominant polycystic kidney disease ( ADPKD ) , PKD 1 and PKD 2 , have been described . ^^^ In the present work we study , by means of linkage analysis , the genetic heterogeneity in our population as well as the clinical differences between PKD 1 and PKD 2 . ^^^ SUBJECTS AND METHODS : 316 subjects belonging to 49 unrelated ADPKD families have been studied by means of 3 microsatellites for PKD 1 and 3 for PKD 2 to differentiate if they have ADPKD type 1 or 2 . ^^^ RESULTS : Genetic heterogeneity has been proved , with 85 % of families linked to PKD 1 and 15 % to PKD 2 . ^^^ In both forms of ADPKD there were families showing anticipation ( 8 / 44 for PKD 1 and 2 / 5 for PKD 2 ) but this was not a widespread phenomenon . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The two most common genetic determinants for ADPKD are the PKD 1 and PKD 2 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is caused by mutations in one of three genes : PKD 1 on chromosome 16 accounts for approximately 85 % of cases whereas PKD 2 on chromosome 4 accounts for approximately 15 % . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Up to three loci are involved in this disease , PKD 1 on chromosome 16p13 . 3 , PKD 2 on 4q21 , and a third locus of unknown location . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is genetically heterogeneous , with at least three chromosomal loci ( PKD 1 , PKD 2 , and PKD 3 ) that account for the disease . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Recent studies have identified the genes mutated in the two major forms of autosomal dominant polycystic kidney disease , PKD 1 and PKD 2 . ^^^ Consistent with this hypothesis , murine models engineered with loss of function mutations of Pkd 1 or Pkd 2 develop cystic disease in the homozygous state . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Renal tubules are predisposed to cystogenesis when a germ line mutation is inherited in either the human PKD 1 or PKD 2 genes in autosomal dominant polycystic kidney disease ( ADPKD ) or when a homozygous mutation in Tg 737 is inherited in the orpk mouse model of autosomal recessive polycystic kidney disease ( ARPKD ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Two recently isolated ADPKD genes , PKD 1 and PKD 2 , encode integral membrane proteins of unknown function . ^^^ Coexpression of PKD 2 with the interacting C terminus of PKD 1 dramatically augmented PKD 2 mediated AP 1 activation . ^^^ The synergistic signaling between PKD 1 and PKD 2 involved the activation of two distinct PKC isozymes , PKC alpha and PKC epsilon , respectively . ^^^ Our findings are consistent with others that support a functional connection between PKD 1 and PKD 2 involving multiple signaling pathways that converge to induce AP 1 activity , a transcription factor that regulates different cellular programs such as proliferation , differentiation , and apoptosis . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Actually three genes responsible for the development of the disease are known : PKD 1 gene located on the short arm of the chromosome 16 ( isolated and described in 1994 1995 ) , PKD 2 gene , which is located on the long arm of the chromosome 4 ( isolated in 1996 ) and exceptionally occurs PKD 3 gene which is not mapped by linkage analysis neither on the PKD 1 nor the PKD 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
PKD 1 and PKD 2 have been cloned and sequenced , both code for novel proteins . ^^^ Individuals with mutations in PKD 1 or PKD 2 have identical phenotypes , which present at a later age in PKD 2 patients . ^^^ Recent evidence suggests that the two polycystins interact , providing a biochemical basis for the similarity of disease caused by mutations in PKD 1 and PKD 2 . ^^^ Mice with targeted mutations of either the PKD 1 or the PKD 2 genes die during embryogenesis . ^^^ The observation that loss of polycystin 1 or 2 function causes death during embryogenesis suggests that PKD 1 and PKD 2 might be part of a morphoregulatory pathway . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is caused by mutations in PKD 1 and PKD 2 . ^^^ Clonal somatic mutations of PKD 1 were identified in a subset of cysts that lacked PKD 2 mutations . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
We have demonstrated the presence of LOH in 20 . 1 % of PKD 1 cysts and in 10 % of PKD 2 cysts . ^^^ In conclusion , our data suggest that a recessive mechanism at the cellular level is implicated in cyst formation in the PKD 1 and the PKD 2 disease . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
It is caused by mutations in the PKD 1 or PKD 2 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Two forms of the disease , ADPKD 1 and ADPKD 2 , caused by mutations in PKD 1 and PKD 2 , respectively , are very similar , except that ADPKD 1 patients run a more severe course . ^^^ In cystic DNA from a kidney of an ADPKD 1 patient , we showed somatic mutations not only in the PKD 1 gene of certain cysts , but also in the PKD 2 gene of others , generating a trans heterozygous state with mutations in both genes . ^^^ One mutation in PKD 1 is of germinal nature and the mutation in the PKD 2 gene is of somatic nature . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Several mutations have been identified in PKD 1 and PKD 2 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Despite the recent positional cloning of the PKD 1 and PKD 2 genes , which are mutated in the great majority of patients with autosomal dominant polycystic kidney disease ( PKD ) , the pathogenic mechanism for cyst formation is still unclear . ^^^ The finding , that the PKD 1 and PKD 2 proteins interact with each other through their COOH termini , suggests that both proteins are part of the same protein complex or signal transduction pathway . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Distinct and common developmental expression patterns of the murine Pkd 2 and Pkd 1 genes . ^^^ At least two genes , PKD 2 and PKD 1 are implicated in the development of this disease . ^^^ We have thus undertaken a detailed comparative expression analysis of Pkd 2 and Pkd 1 from the morula stage to adulthood . ^^^ Pkd 2 expression was detected as early as the morula and blastocyst stages as observed for Pkd 1 . ^^^ Strong Pkd 2 expression , similar to Pkd 1 , was displayed in all mesenchymal and cartilaginous tissues during mouse development . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutational analysis of the PKD 1 and PKD 2 ( type 1 and 2 dominant autosomal polycystic kidney ) genes ] . ^^^ It is caused by mutations in at least two different genes : PKD 1 and PKD 2 . ^^^ In this study we have analyzed the non reiterated region of the PKD 1 gene and all the exons and intron exon boundaries of the PKD 2 gene . ^^^ The rate of mutation detection within the PKD 1 gene has been 4 % and the rate for PKD 2 has been 100 % . ^^^ We have not observed any correlation between genotype and phenotype either in the PKD 1 nor in the PKD 2 gene . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is genetically heterogeneous , with at least three chromosomal loci ( PKD 1 , PKD 2 , and PKD 3 ) accounting for the disease . ^^^ PKD 2 is a milder form of the disease , with a mean age of end stage renal disease ( ESRD ) approximately 20 years later than PKD 1 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Fluorescent multiplex PCR and capillary electrophoresis for analysis of PKD 1 and PKD 2 associated microsatellite markers . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In searching for a putative third gene for autosomal dominant polycystic kidney disease ( ADPKD ) , we studied the genetic inheritance of a large family ( NFL 10 ) previously excluded from linkage to both the PKD 1 locus and the PKD 2 locus . ^^^ We screened 48 members of the NFL 10 pedigree , by ultrasonography , and genotyped them , with informative markers , at both the PKD 1 locus and the PKD 2 locus . ^^^ Inspection of the haplotypes of these individuals suggested the possibility of bilineal disease from independently segregating PKD 1 and PKD 2 mutations . ^^^ These findings strongly support the presence of a PKD 1 mutation in 15 other affected pedigree members , who lack the PKD 2 mutation . ^^^ In humans , trans heterozygous mutations involving both PKD 1 and PKD 2 are not necessarily embryonically lethal . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In the vast majority of cases , the disease is caused by mutations in PKD 1 or PKD 2 , and appears to be recessive at the cellular level . ^^^ PKD 1 and PKD 2 encode a putative adhesive / ion channel regulatory protein and an ion channel , respectively . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in either of 2 different genes ( PKD 1 or PKD 2 ) give rise to ADPKD . ^^^ Most mutations identified in affected families appear to inactivate the PKD genes , and accumulating evidence suggests that a 2 hit mechanism , in which the normal PKD 1 or PKD 2 allele is also mutated , may be required for cyst growth . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Genetic evidence suggests that PKD 1 , PKD 2 , NPHP 1 , and tensin are in the same pathway . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease unlinked to the PKD 1 and PKD 2 loci presenting as familial cerebral aneurysm . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Linkage analysis was done with microsatellite markers ( PKD 1 : SM 7 , UT 581 , AC2 . 5 , KG 8 , D16S418 ; PKD 2 : D4S423 , D4S1534 , D4S1542 , D4S1544 , D4S2460 ) . ^^^ RESULTS : The results of this study showed that the ratio PKD 1 : PKD 2 was 31 : 8 , and that the PKD 2 families exhibited a tendency toward a milder renal prognosis than the PKD 1 families . ^^^ CONCLUSION : We confirmed the applicability of linkage analysis for ADPKD in the Korean population , and our data confirmed a similar incidence of PKD 1 ( 79 % ) and PKD 2 ( 21 % ) in Korean patients as in the Western population . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polymerase chain reaction single strand conformation polymorphism ( PCR SSCP ) or denaturing high performance liquid chromatography ( DHPLC ) analyses were performed in the present study to screen mutations from exon 23 to exon 46 in the PKD 1 gene and in the entire PKD 2 gene . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in two genes , PKD 1 and PKD 2 , are associated with the disorder . ^^^ These include whether the patient has a germline mutation in the PKD 1 or in the PKD 2 gene , and the nature of the mutation . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Six polymorphic markers , each linked to either the polycystic kidney disease 1 ( PKD 1 ) or polycystic kidney disease 2 ( PKD 2 ) gene , were used for polymerase chain reaction analysis . ^^^ Seventeen families ( 81 % ) showed linkage to PKD 1 , two families ( 10 % ) showed linkage to PKD 2 , and two families did not show linkage to either PKD 1 or PKD 2 . ^^^ PKD 2 linked families did not have milder symptoms than PKD 1 linked families . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
METHODS : A protocol was developed to specifically amplify the exons of PKD 1 and PKD 2 from genomic DNA as 150 to 450 bp amplicons . ^^^ RESULTS : Cost effective and sensitive mutation screening of the entire coding regions of PKD 1 and PKD 2 by DHPLC was optimized . ^^^ Twenty nine definite mutations were detected , 26 PKD 1 , 3 PKD 2 and a further five possible missense mutations were characterized leading to a maximal detection rate of 76 % . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In the former disease the diagnostic utility of renal ultrasound was determined , as was the prognostic impact of genotype , the role of the renin angiotensin system in the pre hypertensive phase , the potential for somatic mutations of the PKD 2 gene , or the combination of mutations in the PKD 1 and PKD 2 genes , in single cells to induce cysts , and the demonstration that human transheterozygotes of PKD 1 and 2 are not embryonically lethal . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
BACKGROUND / AIM : The phenotypic variability of autosomal dominant polycystic kidney disease ( ADPKD ) can not be explained only by various mutations of two known genes ( PKD 1 and PKD 2 ) , but the influence of other unknown factors should also be considered . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in one of two genes , PKD 1 and PKD 2 , account for the disease in most ADPKD families . ^^^ Genetic analysis with PKD 1 and PKD 2 flanking markers showed that this family is PKD 1 linked ( z ( max ) = 1 . 66 and 2 . 54 at thetas = 0 . 0 for intragenic markers for PKD 1 [ ie , KG 8 ] and PKD 2 [ ie , SPP 1 ] , respectively ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations of either PKD 1 or PKD 2 are associated with autosomal dominant polycystic kidney disease ( ADPKD ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
BACKGROUND : Two genetic loci , PKD 1 and PKD 2 , have been identified as being responsible for ADPKD , and PKD 1 is known to be associated with a poor prognosis . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Single cell RT PCR analysis revealed that mRNA of PKD 2 and PKD2L2 , but not PKDL or PKD 1 are expressed in individual rat left ventricular myocytes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations of two genes , PKD 1 and PKD 2 , account for the disease in approximately 80 to 85 % and 10 to 15 % of the cases , respectively . ^^^ Locus heterogeneity is a major determinant for interfamilial disease variability ( i . e . , patients from PKD 1 linked families have a significantly earlier onset of ESRD compared with patients from PKD 2 linked families ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Trans heterozygous Pkd 1 and Pkd 2 mutations modify expression of polycystic kidney disease . ^^^ Autosomal dominant polycystic kidney disease ( ADPKD ) occurs by germline mutation in PKD 1 or PKD 2 . ^^^ Discovery of trans heterozygous mutations in PKD 1 and PKD 2 in a minority of human renal cysts has led to the proposal that such mutations also can play a role in cyst formation . ^^^ In Pkd 1 ( + / ) , Pkd 2 ( + / ) and Pkd 1 ( + / ) : Pkd 2 ( + / ) mice , the renal cystic lesion was mild and variable with no adverse effect on survival at 1 year . ^^^ Cystic disease in trans heterozygous Pkd 1 ( + / ) : Pkd 2 ( + / ) mice , however , was notable for severity in excess of that predicted by a simple additive effect based on cyst formation in singly heterozygous mice . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Two ADPKD related genes have been isolated : PKD 1 , located on chromosome 16p13 . 3 , and PKD 2 , located on 4q21 22 . ^^^ Six markers were included in the PKD 1 and five in the PKD 2 analysis . ^^^ Among these six ADPKD families , four showed linkage to PKD 1 and two showed linkage to PKD 2 . ^^^ Ultrasonography or computerized tomography revealed that PKD 1 patients developed cysts only in kidneys , but PKD 2 patients developed cysts in kidneys , liver and pancreas . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
We used genetic markers located on chromosome 19p13 . 2 13 . 1 and , in addition , on the three known PKD loci on chromosomes 4q21 q 23 ( PKD 2 ) , 6p21 ( ARPKD ) and 16p13 . 3 p13 . 12 ( PKD 1 ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In contrast to PKD 1 , PKD 2 , and PKHD 1 , PRKCSH encodes a previously described human protein termed `` protein kinase C substrate 80K H ' ' or `` noncatalytic beta subunit of glucosidase II . ' ' This protein is highly conserved , is expressed in all tissues tested , and contains a leader sequence , an LDLa domain , two EF hand domains , and a conserved C terminal HDEL sequence . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The molecular bases include germinal mutation of either PKD 1 or PKD 2 genes , enhanced expression of several protooncogenes , alteration of the TGF alpha / EGF / EGF receptor ( EGFR ) axis , and disturbed regulation of proliferative / apoptosis pathways . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is the result of mutations in one allele of the PKD 1 or PKD 2 genes , followed by `` second hit ' ' somatic mutations of the other allele in renal tubule cells . ^^^ The PKD 1 and PKD 2 mRNA and protein were detected in all cells by RT PCR and by immunocytochemistry . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Haplotype analysis was used to classify 20 ADPKD families into those with defects in either the polycystic kidney disease type 1 ( PKD 1 ) or polycystic kidney disease type 2 ( PKD 2 ) genes . ^^^ RESULTS : Haplotype analysis showed that 16 families had defects in the PKD 1 gene and one had defects in the PKD 2 gene . ^^^ The final study population consisted of 79 unaffected family members , 109 patients with defects in the PKD 1 gene and 10 with defects in the PKD 2 gene . ^^^ Higher prevalences of hepatic cysts ( 3 % in healthy relatives , 60 % in PKD 1 patients and 90 % in PKD 2 patients ; p < 0 . 001 ) , subarachnoid hemorrhage or cerebral aneurysms ( 1 % , 12 % and 0 % , respectively ; p < 0 . 001 ) , proteinuria ( 1 % , 23 % and 0 % , respectively ; p < 0 . 001 ) and hematuria ( 5 % , 30 % and 0 % , respectively ; p < 0 . 001 ) were found in PKD 1 patients compared to the healthy relatives . ^^^ PKD 1 patients had a faster progression of kidney disease than PKD 2 patients ( p < 0 . 001 ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations of 2 genes , PKD 1 and PKD 2 , account for the disease in approximately 80 % to 85 % and 10 % to 15 % of families respectively . ^^^ The gene products ( polycystin 1 and 2 ) of PKD 1 and PKD 2 are plasma membrane proteins and components of a novel signalling pathway that regulates epithelial cell growth and differentiation . ^^^ Furthermore , individual cyst formation in ADPKD represents an aberration of monoclonal growth triggered by somatic PKD 1 or PKD 2 mutations within individual epithelial cells . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Since identification of the genes mutated in patients with Autosomal Dominant Polycystic Kidney Disease , PKD 1 and PKD 2 , a large number of different germ line mutations in both genes have been found by conventional PCR based mutation detection methods . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Here we review what is known about ADPKD including well accepted data such as the identification of the causative genes and the fact that PKD 1 and PKD 2 act in the same pathway , fairly well accepted concepts such as the `` two hit hypothesis , ' ' and somewhat confusing information regarding polycystin 1 and 2 localization and protein interactions . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Humans heterozygous for PKD 1 or PKD 2 develop autosomal dominant polycystic kidney disease , a common genetic disorder characterized by renal cyst formation and extrarenal complications such as hypertension and vascular aneurysms . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Kinase inactive forms of PKD 1 , PKD 2 and PKD 3 localize to the TGN in polarized and non polarized cells . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD , MIM 173900 , PKD 1 and PKD 2 genes , protein products known as polycystin 1 and polycystin 2 ) . ^^^ The diagnosis of ADPKD is typically made using renal imaging despite the identification of mutations in PKD 1 and PKD 2 that account for virtually all cases . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystic kidney disease is characterized by defective renal tubular structure and results from mutations in either PKD 1 or PKD 2 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
PKD 2 linked ADPKD is supposed to be a milder form of the disease , its mean age of end stage renal failure ( ESRF ) approximately 20 years later than PKD 1 . ^^^ The age of 63 was used as the cut off because it is between the recently published ages of onset of ESRF for PKD 1 and PKD 2 . ^^^ From PKD families we also selected 53 patients ( 26 males , 27 females ) who could be linked to either the PKD 1 or PKD 2 genes by linkage analysis . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) maps to chromosome 16p13 . 3 ( PKD 1 ) and to chromosome 4q21 23 ( PKD 2 ) , with the likelihood of a third unmapped locus . ^^^ Since , the complete genome sequences of chromosome 16p13 . 3 and 4q21 23 including PKD 1 and PKD 2 , respectively , were reported very recently , in order to do more precise diagnosis of ADPKD , we tried to find microsatellite markers . ^^^ We found novel 14 microsatellite markers around ADPKD that are more polymorphic and closer to PKD 1 or PKD 2 than the known markers . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The most common form is autosomal dominant PKD ( ADPKD ) and is caused by mutations in the PKD 1 gene in 85 % of cases or in PKD 2 in 10 15 % . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease , characterized by extensive formation of renal cysts and progressive renal failure , is a genetic disorder caused by mutations in the PKD 1 and PKD 2 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic disease is genetically heterogeneous with mutations in two distinct genes predisposing to the combination of renal and liver cysts ( AD PKD 1 and AD PKD 2 ) and mutations in a third gene yielding isolated liver cysts ( the polycystic liver disease gene ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
It is a systemic disorder that is caused by mutations in PKD 1 or PKD 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is caused by mutations in the PKD 1 or PKD 2 gene , but cellular mechanisms of cystogenesis remain unclear . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in PKD 1 and PKD 2 genes account for the majority of ADPKD . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Defects in the PKD genes , PKD 1 and PKD 2 , cause 85 % and 15 % of human ADPKD cases , respectively . ^^^ Forty three microsatellites were chosen from the feline genetic maps based on known homology with human chromosomal regions containing the PKD 1 , PKD 2 , PKHD 1 , and Nek 8 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
A short history of the mapping of the PKD 1 and PKD 2 genes , the types of mutations in these genes and methods of their detection are described . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The PKD 1 and PKD 2 genes are mutated in patients with autosomal dominant polycystic kidney disease ( ADPKD ) , a systemic disease , with the formation of renal cysts as main clinical feature . ^^^ The genes are developmentally regulated and aberrant expression of PKD 1 or PKD 2 leads to cystogenesis . ^^^ To identify conserved putative transcription factor binding sites , we cloned and characterized the 5 ' flanking regions of the murine and canine Pkd 1 genes and performed a multispecies comparison by including sequences from the human and Fugu rubripes orthologues as well as the Pkd 2 promoters from mouse and human . ^^^ Our data define a functional promoter region for Pkd 1 and imply that E2F , EGRF , Ets , MZF 1 , Sp 1 , and ZBP 89 are potential key regulators of PKD 1 and PKD 2 in mammals . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In this study , we screened the entire coding region of the PKD 1 and PKD 2 genes in 17 Finnish families with ADPKD via long range polymerase chain reaction , single strand conformation polymorphism analysis , and direct sequencing . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) is caused by mutations in two genes , PKD 1 and PKD 2 . ^^^ In the Han Chinese population , no complete mutational analysis has previously been conducted across the entire span of PKD 1 and PKD 2 . ^^^ Here , we used single strand conformation polymorphism ( SSCP ) analysis to screen the entire coding sequence of PKD 1 and PKD 2 in 85 healthy controls and 72 Han Chinese from 24 ADPKD pedigrees . ^^^ In addition to 11 normal variants , we identified 17 mutations ( 12 in PKD 1 and 5 in PKD 2 ) , 15 of which were novel ones ( 11 for PKD 1 and 4 for PKD 2 ) . ^^^ We did not identify any seeming mutational hot spots in PKD 1 and PKD 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Following the identification of the first ADPKD gene , PKD 1 , 10 years ago and PKD 2 2 years later , considerable progress has been made in defining the etiology and understanding the pathogenesis of this disorder , knowledge that is now leading to the development of several promising new therapies . ^^^ The purpose of this review is to summarize our current state of knowledge as to the structure and function of the PKD 1 and PKD 2 proteins , polycystin 1 and 2 , respectively , and explore how mutation at these loci results in the spectrum of changes seen in ADPKD . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
ADPKD is much more frequent ( 1 : 400 1000 live births ) , and can arise from mutations in 2 different genes , named PKD 1 located on chromosome 16p13 . 3 , and PKD 2 located on chromosome 4q21 23 . ^^^ The proteins encoded by the PKD 1 and PKD 2 genes are named polycystins which play crucial roles in several biologic processes . ^^^ To explain the focal lesions that affected different organs and tissues the `` double hit ' ' theory has been proposed ( germinal mutation plus somatic mutation on PKD 1 or PKD 2 ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In conclusion , our results define the critical components of the PKD 2 regulatory domain controlling phorbol ester binding , catalytic activity , and nucleocytoplasmic shuttling and reveal marked differences to the regulatory properties of this domain in PKD 1 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The disease can be accounted for by a mutation in either the PKD 1 or the PKD 2 gene . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Of the three PKD isoforms , only PKD 1 and PKD 2 phosphorylated PI4KIIIbeta at a motif that is highly conserved from yeast to humans . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In addition to the known causative genes PKD 1 and PKD 2 , there are mutations that result in cystic changes in the kidney , such as nephronophthisis , autosomal recessive polycystic kidney disease , or medullary cystic kidney disease . ^^^ Genetic studies in the ( cy / + ) rat showed that PKD spontaneously develops as a consequence of a mutation in a gene different from the rat orthologs of PKD 1 and PKD 2 or other genes that are known to be involved in human cystic kidney diseases . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease , a common cause of renal failure , arises from mutations in either the PKD 1 or the PKD 2 gene . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in the PKD 1 or PKD 2 genes give rise to cyst formation . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Autosomal dominant polycystic kidney disease ( ADPKD ) types 1 and 2 arise as a consequence of mutations in the PKD 1 or PKD 2 genes , encoding polycystins 1 and 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Patients with ADPKD carry a germ line mutation in PKD 1 or PKD 2 . ^^^ Loss of this important function due to mutational changes in PKD 1 or PKD 2 leads to loss of normal control over cellular proliferation , resulting in cyst formation . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
It is an autosomic dominant disease due to mutation of one out of three genes : PKD 1 ( on the 16th chromosome ) , PKD 2 ( on the 4th chromosome ) and PKD 3 ( still unmapped ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
OBJECTIVE : To use preimplantation genetic diagnosis for achieving a polycystic kidney disease ( PKD ) free pregnancy for a couple in which the female partner was affected by PKD but whose PKD 1 or PKD 2 carrier status was not established . ^^^ PATIENT ( S ) : An at risk couple with the female partner affected by PKD , whose PKD 1 or PKD 2 carrier status was not established . ^^^ INTERVENTION ( S ) : Removal of PB 1 and PB 2 and testing for three closely linked markers to PKD 1 ( Kg 8 , D16S664 , and SM 7 ) and four closely linked markers to PKD 2 ( D4S2922 , D4S2458 , D4S423 , and D4S1557 ) after standard IVF . ^^^ MAIN OUTCOME MEASURE ( S ) : Deoxyribonucleic acid analysis of PB 1 and PB 2 indicating whether corresponding oocytes were PKD 1 or PKD 2 allele free , for the purpose of transferring only embryos resulting from mutation free oocytes . ^^^ RESULT ( S ) : Of 11 oocytes tested by PB 1 and PB 2 DNA analysis , 7 were predicted to contain PKD 1 or PKD 2 , with the remaining 4 free of both mutations . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
In humans mutations in PKD 2 and PKD 1 give rise to polycystic kidney disease . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
It affects 1 / 400 to 1 / 1000 live births and accounts for 5 % of the end stage renal disease in the United States and Europe , and is caused by gene defects in the PKD 1 or PKD 2 genes . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The genes responsible for ADPKD , PKD 1 , and PKD 2 have been identified , and the pathological processes of the disease are becoming clearer . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
The serine / threonine protein kinase D ( PKD ) family comprises of three members , PKD 1 ( PKCmu ) , PKD 2 and PKD 3 ( PKCnu ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Mutations in either PKD 1 or PKD 2 gene are associated with autosomal dominant polycystic kidney disease , the most common inherited kidney disorder . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
PKD 1 and PKD 2 mutations in Slovenian families with autosomal dominant polycystic kidney disease . ^^^ Linkage was assessed by the use of microsatellite polymorphic markers , four in the case of PKD 1 ( KG 8 , AC2 . 5 , CW 3 and CW 2 ) and five for PKD 2 ( D4S1534 , D4S2929 , D4S1542 , D4S1563 and D4S423 ) . ^^^ Partial PKD 1 mutation screening was undertaken by analysing exons 23 and 31 46 and PKD 2 . ^^^ RESULTS : Lod scores indicated linkage to PKD 1 in six families and to PKD 2 in two families . ^^^ We detected six mutations and eight polymorphisms in PKD 1 and one mutation and three polymorphisms in PKD 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Fibrocystin may participate in regulation of intracellular Ca ( 2+ ) in the distal nephron in a manner similar to PKD 1 and PKD 2 that are involved in autosomal dominant polycystic kidney disease . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Two of the founding members of the PKD family , PKD 1 and PKD 2 , are responsible for the majority of cases of autosomal dominant polycystic kidney disease . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Our present study suggests that the function of the inv protein is distinct from polaris ( the Tg 737 gene product ) , polycystins ( pkd 1 and pkd 2 gene products ) . . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Polycystic kidney disease ( PKD ) is associated with mutations in PKD 1 and PKD 2 and vascular abnormalities . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Each of the three PKD family members , PKD 1 , PKD 2 , and PKD 3 , is capable of phosphorylating HDAC 5 ( K ( m ) for substrate=2 . 07 , 3 . 12 , and 1 . 43microM , respectively ) , although PKD 2 exhibits highest catalytic efficiency ( k ( cat ) / K ( m ) =6 . 77min ( 1 ) microM ( 1 ) ) . ^^^ In addition , we demonstrate that ADP competitively inhibits phosphorylation of HDAC 5 ( K ( 1 ) =8 . 50 , 17 . 54 , and 11 . 98microM for PKD 1 , PKD 2 , and PKD 3 , respectively ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
We identified the C terminus of the different PKDs that constitutes a postsynaptic density 95 / discs large / zonula occludens 1 ( PDZ ) binding motif in PKD 1 and PKD 2 , but not in PKD 3 , to be responsible for the differential control of kinase D interacting substrate of 220 kDa ( Kidins 220 ) surface localization , a neural membrane protein identified as the first substrate of PKD 1 . ^^^ A kinase inactive mutant of PKD 3 is only able to alter the localization of Kidins 220 at the plasma membrane when its C terminus has been substituted by the PDZ binding motif of PKD 1 or PKD 2 . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
Total kidney volume increased more in 135 patients with PKD 1 mutations ( by 245+ / 268 ml ) than in 28 patients with PKD 2 mutations ( by 136+ / 100 ml , P=0 . 03 ) . ^^^
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q13563 and P98161	Pubmed	SVM Score :0.0
NA