| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| A number of transcription factors evidenced in the pituitary may play a part in the development of this gland , namely Pit 1 , Prop 1 , P Lim , Ptx 1 , Rpx , Dax 1 , SF 1 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Characterization of the Ames dwarf ( Prop 1 < df > ) mutation and discovery of other genes important to pituitary differentiation reveal an expression sequence of transcription factors , Hesx 1 ( Rpx ) to P Lim to Prop 1 to Pit 1 , that heralds influence on hypothalamic differentiation . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| The HESX 1 , PITX 1 , PITX 2 , PROP 1 and POU1F1 genes are of particular interest because of their recognized or potential associations with human disease . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Expression of the HESX 1 gene precedes expression of PROP 1 and PIT 1 , and it is much more widespread . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| In humans , inactivation of Pit 1 , Prop 1 , Rpx and Ptx 2 genes is responsible for pituitary combined deficiency . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| In recent years an increasing number of patients with CPHD has been reported , showing mutations within pituitary transcription factors Pit 1 , Prop 1 and HesX 1 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Genes involved in gonadotrope development and / or gene expression include SF 1 , DAX 1 , KAL , GNRHR , PC 1 , HESX 1 , LHX 3 , PROP 1 , LH beta , and FSH beta . ^^^ Some of the mutations that will be reviewed include : ( 1 ) SF 1 and DAX 1 orphan nuclear receptors that are expressed at multiple levels throughout the reproductive axis ; ( 2 ) KAL 10 linked Kallmann syndrome , where there is abnormal development of hypothalamic GnRH producing neurons ; ( 3 ) PC 1 causing abnormal processing of GnRH and GNRHR mutations that impair action at the GnRH receptor ; ( 4 ) HESX 1 , LHX 3 , PROP 1 abnormal development / function of the gonadotrope cell lineage ; ( 5 ) LH beta and FSH beta mutations in the gonadotropin genes that cause structural abnormalities in the hormones . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| These genes include pituitary GH ( GH 1 ) , pituitary transcription factor 1 ( Pit 1 ) , the prophet of Pit 1 ( PROP 1 ) , the pituitary transcription factor LHX 3 , the transcription factor HESX 1 and the GH releasing hormone receptor ( GHRHr ) . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Here we show that while the repressive actions of Hesx1 / Rpx may be required for initial pituitary organ commitment , progression beyond the appearance of the first pituitary ( POMC ) lineage requires both loss of Hesx 1 expression and the actions of Prop 1 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Multiple pituitary hormone deficiency can be caused by mutations in at least three pituitary transcription factors : POU1F1 ( formerly called PIT 1 ) , PROP 1 or HESX 1 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| It is necessary for initiating expansion of Rathke ' s pouch and maintaining expression of the fetal specific transcription factors Hesx 1 and Prop 1 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| In hereditary CH associated with CPHD , inactivating mutations of different pituitary transcription factors ( HESX 1 , PROP 1 , POU1F1 ) have been found involved in the pathogenesis of the disease . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Inactivating mutations leading to growth retardation in humans have been identified in several pituitary transcription factor genes ( HESX 1 , PITX 2 , LHX 3 , PROP 1 , POU1F1 ) as well as in genes encoding the growth hormone releasing hormone receptor ( GHRH R ) , the G ( s ) protein alpha subunit ( GNAS 1 ) , growth hormone itself ( GH 1 ) , the growth hormone receptor ( GHR ) , and in a single case each , the insulin like growth factor 1 ( IGF 1 ) and the IGF 1 receptor . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| The factors that are discussed here include those that act on the developing pituitary gland ( transcription factors including LHX 3 , HESX 1 , PROP 1 , and PIT 1 ) ; those that regulate the normal activity of the pituitary ( hypothalamic hormones such as GHRH , Ghrelin [ growth hormone secretagoguel and somatostatin ) ; those factors coming from the pituitary ( essentially growth hormone [ GH ] ) ; and the downstream modulators , transducers , and effectors of GH ( including the GH receptor / GH binding protein , insulin like growth factor 1 and 2 , their receptors , and their binding factors ) . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Mutations in the genes encoding the HESX 1 , PITX 2 , LHX 3 , LHX 4 , PROP 1 , PIT 1 , SF 1 , and TPIT developmental transcription factors are associated with combined pituitary hormone deficiency diseases . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Genes currently recognized to be involved include KAL 1 ( associated with 10 linked Kallmann Syndrome ) , gonadotropin releasing hormone ( GnRH ) receptor , gonadotropins , pituitary transcription factors ( HESX 1 , LHX 3 , and PROP 1 ) , orphan nuclear receptors ( DAX 1 , associated with 10 linked adrenal hypoplasia congenital , and SF 1 ) , and three genes also associated with obesity ( leptin , leptin receptor , and prohormone convertase 1 [ PC 1 ] ) . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| The genetic abnormalities include mutations within : ( 1 ) Hesx 1 ( IGHD , SOD or CPHD ) ; ( 2 ) Lhx 3 ( CPHD with preservation of cortisol secretion and a short stiff neck ) ; ( 3 ) Lhx 4 ( GH , TSH and ACTH deficiency with cerebellar hypoplasia ) ; ( 4 ) Prop 1 ( variable CPHD often associated with pituitary masses ) ; ( 5 ) POU1F1 ( GH , prolactin and TSH deficiency ) ; ( 6 ) GHRHR ( IGHD ) and ( 7 ) GH 1 ( IGHD ) . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Clinical characteristics and molecular analysis of PIT 1 , PROP 1 , LHX 3 , and HESX 1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging . ^^^ This study was undertaken to analyze PIT 1 , PROP 1 , LHX 3 , and HESX 1 in 12 CPHD patients with abnormal pituitary magnetic resonance imaging ( MRI ) . ^^^ Since embryonic development of the pituitary requires the coordinated expression of specific transcription factors , we postulated the presence of mutations in PIT 1 , PROP 1 , LHX 3 , and HESX 1 genes . ^^^ None of disease causing specific mutations were identified in PIT 1 , PROP 1 , LHX 3 , and HESX 1 genes of 12 sporadic CPHD patients with abnormal pituitary imaging . ^^^ CONCLUSIONS : Mutations of PIT 1 , PROP 1 , LHX 3 , and HESX 1 genes are very rare in sporadic CPHD patients with abnormal pituitary MRI . . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Prop 1 and Hesx 1 are also important for normal shape of the pituitary primordium , but their expression is unaltered in the Wnt5a mutants . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| They are due to mutations of transcription factors involved in the early steps of pituitary development ( RIEG , HesX 1 , LHX 4 , LHX 3 , Prop 1 , POU1F1 / Pit 1 ) , and are associated with various phenotypes . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Abnormalities in two genes , the GH N encoding the GH and the GHRH receptor ( GHRH R ) , have been identified , while mutations in five other gene encoding transcription factors such as Pit 1 , Prop 1 , Hesx 1 , Lhx 3 and Lhx 4 involved in anterior pituitary development , have also been described . ^^^ These patients do not have Pit 1 , Prop 1 , or Lhx 3 mutations and should be carefully monitored for evolving pituitary hormone defects , though they do not require GH re evaluation in adulthood ; selected cases may have Hesx 1 or Lhx 4 mutations . ^^^ MR evidence of normal or small anterior pituitary gland , enlarged empty sella , pituitary hyperplasia and / or intrasellar or suprasellar mass when associated with combined pituitary hormone deficiency call for molecular analysis of Pit 1 , Prop 1 , Hesx 1 , or Lhx 3 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| In this review we emphasize the description of human phenotypes associated with genetic alterations found in IPHD ( e . g . isolated corticotroph deficiency and Tpit mutations ) and MPHD ( mutations of POU1F1 , PROP 1 , Hesx 1 , Lhx 3 , Lhx 4 , Ptx 2 ) . . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| A number of developmental genes known to be important for organ commitment and cell differentiation and proliferation ( HESX 1 , LHX 3 , LHX 4 , PROP 1 and PIT 1 ) have been implicated in CPHD with or without other syndromic features . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Central hypothyroidism affects about 1 : 20 , 000 newborns and has been associated with mutations in pituitary transcriptional factors ( POUIF 1 , PROP 1 , LHX 3 , and HESX 1 ) . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Mutation analysis of POUF 1 , PROP 1 and HESX 1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo optic dysplasia . ^^^ OBJECTIVES : Mutations in the genes encoding the transcription factors PROP 1 and POUF 1 ( Pit 1 ) have been reported as common causes of combined pituitary hormone deficiency ( CPHD ) , and HESX 1 mutations have been identified in children with septo optic dysplasia ( SOD ) . ^^^ DESIGN AND PATIENTS : The three coding exons of PROP 1 , and six exons of POUF 1 in 27 children from 26 families with CPHD , and three exons of HESX 1 in 23 children from 22 families with SOD were directly sequenced from a well characterized regional cohort . ^^^ We did not identify any mutations in the PROP 1 gene or HESX 1 . ^^^ CONCLUSIONS : Mutations in POUF 1 , PROP 1 and HESX 1 are rare causes of CPHD and SOD , respectively , in children from the West Midlands . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| RESULTS : Homeo box gene expressed in ES cells ( Hesx 1 ) , LIM homeobox protein 3 ( Lhx 3 ) , paired like homeodomain factor 1 ( Prop 1 ) , GATA binding protein 2 ( GATA 2 ) , follicle stimulating hormone beta ( FSHbeta ) , and luteinizing hormone beta ( LHbeta ) mRNAs were detected at day 6 EBs and maintained throughout the culture to day 56 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| These include the transcription factors HESX 1 , PROP 1 , POU1F1 , LHX 3 , LHX 4 , GLI 2 and SOX 3 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Emphasis can be made on the advances of molecular genetics , which have characterized human genes involved in the hypothalamus pituitary GH axis such as GH , POU1F1 , PROP 1 , GHRHR , GHR , IGF , IGFR , HESX 1 , LHX 3 , LHX 4 , among others . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| We aimed to establish the prevalence of HESX 1 , PROP 1 , and POU1F1 gene defects in a population based cohort of patients with MPHD and to analyse the phenotype of affected individuals . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Here , we report an unexpected strategy for beta catenin dependent regulation of cell lineage determination based on interactions between beta catenin and a specific homeodomain factor , Prop 1 , rather than Lef / Tcfs . beta catenin acts as a binary switch to simultaneously activate expression of the critical lineage determining transcription factor , Pit 1 , and to repress the gene encoding the lineage inhibiting transcription factor , Hesx 1 , acting via TLE / Reptin / HDAC1 corepressor complexes . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| Molecular analyses of the genes of the transcriptional factors POU1F1 , PROP 1 , LHX 3 , LHX 4 , ISL 1 and HESX 1 detected no mutations in APA patients . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| DESIGN : One hundred ninety five CPHD patients from the international GENHYPOPIT network were studied , according to their phenotype , for POU1F1 , PROP 1 , LHX 3 , LHX 4 , and HESX 1 . ^^^ |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O75360 and Q9UBX0 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Characterization of the Ames dwarf ( Prop 1 < df > ) mutation and discovery of other genes important to pituitary differentiation reveal an expression sequence of transcription factors , Hesx 1 ( Rpx ) to P Lim to Prop 1 to Pit 1 , that heralds influence on hypothalamic differentiation . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Expression of the HESX 1 gene precedes expression of PROP 1 and PIT 1 , and it is much more widespread . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| In recent years an increasing number of patients with CPHD has been reported , showing mutations within pituitary transcription factors Pit 1 , Prop 1 and HesX 1 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Genes involved in gonadotrope development and / or gene expression include SF 1 , DAX 1 , KAL , GNRHR , PC 1 , HESX 1 , LHX 3 , PROP 1 , LH beta , and FSH beta . ^^^ Some of the mutations that will be reviewed include : ( 1 ) SF 1 and DAX 1 orphan nuclear receptors that are expressed at multiple levels throughout the reproductive axis ; ( 2 ) KAL 10 linked Kallmann syndrome , where there is abnormal development of hypothalamic GnRH producing neurons ; ( 3 ) PC 1 causing abnormal processing of GnRH and GNRHR mutations that impair action at the GnRH receptor ; ( 4 ) HESX 1 , LHX 3 , PROP 1 abnormal development / function of the gonadotrope cell lineage ; ( 5 ) LH beta and FSH beta mutations in the gonadotropin genes that cause structural abnormalities in the hormones . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| These genes include pituitary GH ( GH 1 ) , pituitary transcription factor 1 ( Pit 1 ) , the prophet of Pit 1 ( PROP 1 ) , the pituitary transcription factor LHX 3 , the transcription factor HESX 1 and the GH releasing hormone receptor ( GHRHr ) . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Here we show that while the repressive actions of Hesx1 / Rpx may be required for initial pituitary organ commitment , progression beyond the appearance of the first pituitary ( POMC ) lineage requires both loss of Hesx 1 expression and the actions of Prop 1 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Multiple pituitary hormone deficiency can be caused by mutations in at least three pituitary transcription factors : POU1F1 ( formerly called PIT 1 ) , PROP 1 or HESX 1 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| It is necessary for initiating expansion of Rathke ' s pouch and maintaining expression of the fetal specific transcription factors Hesx 1 and Prop 1 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| In hereditary CH associated with CPHD , inactivating mutations of different pituitary transcription factors ( HESX 1 , PROP 1 , POU1F1 ) have been found involved in the pathogenesis of the disease . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| The HESX 1 , PITX 1 , PITX 2 , PROP 1 and POU1F1 genes are of particular interest because of their recognized or potential associations with human disease . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Inactivating mutations leading to growth retardation in humans have been identified in several pituitary transcription factor genes ( HESX 1 , PITX 2 , LHX 3 , PROP 1 , POU1F1 ) as well as in genes encoding the growth hormone releasing hormone receptor ( GHRH R ) , the G ( s ) protein alpha subunit ( GNAS 1 ) , growth hormone itself ( GH 1 ) , the growth hormone receptor ( GHR ) , and in a single case each , the insulin like growth factor 1 ( IGF 1 ) and the IGF 1 receptor . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| The factors that are discussed here include those that act on the developing pituitary gland ( transcription factors including LHX 3 , HESX 1 , PROP 1 , and PIT 1 ) ; those that regulate the normal activity of the pituitary ( hypothalamic hormones such as GHRH , Ghrelin [ growth hormone secretagoguel and somatostatin ) ; those factors coming from the pituitary ( essentially growth hormone [ GH ] ) ; and the downstream modulators , transducers , and effectors of GH ( including the GH receptor / GH binding protein , insulin like growth factor 1 and 2 , their receptors , and their binding factors ) . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Mutations in the genes encoding the HESX 1 , PITX 2 , LHX 3 , LHX 4 , PROP 1 , PIT 1 , SF 1 , and TPIT developmental transcription factors are associated with combined pituitary hormone deficiency diseases . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Genes currently recognized to be involved include KAL 1 ( associated with 10 linked Kallmann Syndrome ) , gonadotropin releasing hormone ( GnRH ) receptor , gonadotropins , pituitary transcription factors ( HESX 1 , LHX 3 , and PROP 1 ) , orphan nuclear receptors ( DAX 1 , associated with 10 linked adrenal hypoplasia congenital , and SF 1 ) , and three genes also associated with obesity ( leptin , leptin receptor , and prohormone convertase 1 [ PC 1 ] ) . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| The genetic abnormalities include mutations within : ( 1 ) Hesx 1 ( IGHD , SOD or CPHD ) ; ( 2 ) Lhx 3 ( CPHD with preservation of cortisol secretion and a short stiff neck ) ; ( 3 ) Lhx 4 ( GH , TSH and ACTH deficiency with cerebellar hypoplasia ) ; ( 4 ) Prop 1 ( variable CPHD often associated with pituitary masses ) ; ( 5 ) POU1F1 ( GH , prolactin and TSH deficiency ) ; ( 6 ) GHRHR ( IGHD ) and ( 7 ) GH 1 ( IGHD ) . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Clinical characteristics and molecular analysis of PIT 1 , PROP 1 , LHX 3 , and HESX 1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging . ^^^ This study was undertaken to analyze PIT 1 , PROP 1 , LHX 3 , and HESX 1 in 12 CPHD patients with abnormal pituitary magnetic resonance imaging ( MRI ) . ^^^ Since embryonic development of the pituitary requires the coordinated expression of specific transcription factors , we postulated the presence of mutations in PIT 1 , PROP 1 , LHX 3 , and HESX 1 genes . ^^^ None of disease causing specific mutations were identified in PIT 1 , PROP 1 , LHX 3 , and HESX 1 genes of 12 sporadic CPHD patients with abnormal pituitary imaging . ^^^ CONCLUSIONS : Mutations of PIT 1 , PROP 1 , LHX 3 , and HESX 1 genes are very rare in sporadic CPHD patients with abnormal pituitary MRI . . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Prop 1 and Hesx 1 are also important for normal shape of the pituitary primordium , but their expression is unaltered in the Wnt5a mutants . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| They are due to mutations of transcription factors involved in the early steps of pituitary development ( RIEG , HesX 1 , LHX 4 , LHX 3 , Prop 1 , POU1F1 / Pit 1 ) , and are associated with various phenotypes . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Abnormalities in two genes , the GH N encoding the GH and the GHRH receptor ( GHRH R ) , have been identified , while mutations in five other gene encoding transcription factors such as Pit 1 , Prop 1 , Hesx 1 , Lhx 3 and Lhx 4 involved in anterior pituitary development , have also been described . ^^^ These patients do not have Pit 1 , Prop 1 , or Lhx 3 mutations and should be carefully monitored for evolving pituitary hormone defects , though they do not require GH re evaluation in adulthood ; selected cases may have Hesx 1 or Lhx 4 mutations . ^^^ MR evidence of normal or small anterior pituitary gland , enlarged empty sella , pituitary hyperplasia and / or intrasellar or suprasellar mass when associated with combined pituitary hormone deficiency call for molecular analysis of Pit 1 , Prop 1 , Hesx 1 , or Lhx 3 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| In this review we emphasize the description of human phenotypes associated with genetic alterations found in IPHD ( e . g . isolated corticotroph deficiency and Tpit mutations ) and MPHD ( mutations of POU1F1 , PROP 1 , Hesx 1 , Lhx 3 , Lhx 4 , Ptx 2 ) . . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| A number of developmental genes known to be important for organ commitment and cell differentiation and proliferation ( HESX 1 , LHX 3 , LHX 4 , PROP 1 and PIT 1 ) have been implicated in CPHD with or without other syndromic features . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Central hypothyroidism affects about 1 : 20 , 000 newborns and has been associated with mutations in pituitary transcriptional factors ( POUIF 1 , PROP 1 , LHX 3 , and HESX 1 ) . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Mutation analysis of POUF 1 , PROP 1 and HESX 1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo optic dysplasia . ^^^ OBJECTIVES : Mutations in the genes encoding the transcription factors PROP 1 and POUF 1 ( Pit 1 ) have been reported as common causes of combined pituitary hormone deficiency ( CPHD ) , and HESX 1 mutations have been identified in children with septo optic dysplasia ( SOD ) . ^^^ DESIGN AND PATIENTS : The three coding exons of PROP 1 , and six exons of POUF 1 in 27 children from 26 families with CPHD , and three exons of HESX 1 in 23 children from 22 families with SOD were directly sequenced from a well characterized regional cohort . ^^^ We did not identify any mutations in the PROP 1 gene or HESX 1 . ^^^ CONCLUSIONS : Mutations in POUF 1 , PROP 1 and HESX 1 are rare causes of CPHD and SOD , respectively , in children from the West Midlands . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| RESULTS : Homeo box gene expressed in ES cells ( Hesx 1 ) , LIM homeobox protein 3 ( Lhx 3 ) , paired like homeodomain factor 1 ( Prop 1 ) , GATA binding protein 2 ( GATA 2 ) , follicle stimulating hormone beta ( FSHbeta ) , and luteinizing hormone beta ( LHbeta ) mRNAs were detected at day 6 EBs and maintained throughout the culture to day 56 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| These include the transcription factors HESX 1 , PROP 1 , POU1F1 , LHX 3 , LHX 4 , GLI 2 and SOX 3 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Molecular analyses of the genes of the transcriptional factors POU1F1 , PROP 1 , LHX 3 , LHX 4 , ISL 1 and HESX 1 detected no mutations in APA patients . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| DESIGN : One hundred ninety five CPHD patients from the international GENHYPOPIT network were studied , according to their phenotype , for POU1F1 , PROP 1 , LHX 3 , LHX 4 , and HESX 1 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| A number of transcription factors evidenced in the pituitary may play a part in the development of this gland , namely Pit 1 , Prop 1 , P Lim , Ptx 1 , Rpx , Dax 1 , SF 1 . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| In humans , inactivation of Pit 1 , Prop 1 , Rpx and Ptx 2 genes is responsible for pituitary combined deficiency . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Emphasis can be made on the advances of molecular genetics , which have characterized human genes involved in the hypothalamus pituitary GH axis such as GH , POU1F1 , PROP 1 , GHRHR , GHR , IGF , IGFR , HESX 1 , LHX 3 , LHX 4 , among others . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| We aimed to establish the prevalence of HESX 1 , PROP 1 , and POU1F1 gene defects in a population based cohort of patients with MPHD and to analyse the phenotype of affected individuals . ^^^ |
|
| Interacting proteins: Q9UBX0 and O75360 |
Pubmed |
SVM Score :0.0 |
| Here , we report an unexpected strategy for beta catenin dependent regulation of cell lineage determination based on interactions between beta catenin and a specific homeodomain factor , Prop 1 , rather than Lef / Tcfs . beta catenin acts as a binary switch to simultaneously activate expression of the critical lineage determining transcription factor , Pit 1 , and to repress the gene encoding the lineage inhibiting transcription factor , Hesx 1 , acting via TLE / Reptin / HDAC1 corepressor complexes . ^^^ |
|