| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| The NPHP 1 gene encodes nephrocystin ; NPHP 2 , inversin ; NPHP 3 , nephrocystin 3 ; and NPHP 4 , nephrocystin 4 . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
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 . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| These nph ( for nonphototropic hypocotyl ) mutants comprise four genetic loci : nph 1 , nph 2 , nph 3 , and nph 4 . ^^^ |
|
| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| All of the alleles at the other three mutant loci ( nph 2 , nph 3 , and nph 4 ) contained wild type levels of the putative NPH 1 protein and exhibited normal blue light dependent phosphorylation of the NPH 1 protein . ^^^ This indicated that the NPH 2 , NPH 3 , and NPH 4 proteins likely function downstream of NPH 1 photoactivation . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| Mutations in three loci [ NPH 2 , root phototropism 2 ( RPT 2 ) , and NPH 3 ] disrupt early signaling occurring downstream of the NPH 1 photoreceptor . ^^^ |
|
| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| There is extensive genetic heterogeneity with at least three different loci for NPH ( NPHP 1 , NPHP 2 , and NPHP 3 ) and two different loci for MCKD ( MCKD 1 and MCKD 2 ) . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| There is extensive gene locus heterogeneity with at least three different loci for nephronophthisis ( NPHP 1 , NPHP 2 , and NPHP 3 ) and two different loci for MCKD ( MCKD 1 and MCKD 2 ) . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| Four gene loci for NPHP have been mapped to chromosomes 2q13 ( NPHP 1 ) , 9q22 ( NPHP 2 ) , 3q22 ( NPHP 3 ) , and 1p36 ( NPHP 4 ) . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| BACKGROUND : Autosomal dominant medullary cystic kidney disease ( ADMCKD ) , a hereditary chronic interstitial nephropathy , recently attracted attention because of the cloning or mapping of certain gene loci , namely NPHP 1 , NPHP 2 and NPHP 3 for familial juvenile nephronophthisis ( NPH ) and MCKD 1 and MCKD 2 for the adult form of medullary cystic kidney disease . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| Three loci are associated with the juvenile , infantile and adolescent forms , on chromosomes 2q13 ( NPHP 1 ; refs 5 , 6 ) , 9q22 ( NPHP 2 ; ref . 7 ) and 3q21 ( NPHP 3 ; ref . 8 ) , respectively . ^^^ We carried out haplotype analysis of families affected with nephronophthisis that were not linked to the NPHP 1 , NPHP 2 or NPHP 3 loci , using markers covering this region . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| Loci associated with an infantile type of NPHP on 9q22 q 31 ( NPHP 2 ) , juvenile types of NPHP on chromosomes 2q12 q 13 ( NPHP 1 ) and 1p36 ( NPHP 4 ) and an adolescent type of NPHP on 3q21 q 22 ( NPHP 3 ) have been mapped . ^^^ |
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| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9Y283 and O15259 |
Pubmed |
SVM Score :0.0 |
| NA |
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