A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction

scientific article

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1172/JCI18589
P932PMC publication ID213489
P698PubMed publication ID14561704

P50authorVerónica MericqQ37369970
Stefano StifaniQ37377205
Mehul T DattaniQ88910677
P2093author name stringBerenice B Mendonca
Ivo J P Arnhold
Joshua M Brickman
Luciani R Carvalho
Kathryn S Woods
Nathalie Marcal
Andrea L Zamparini
P2860cites workTransducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3betaQ22253477
Mutations in PROP1 cause familial combined pituitary hormone deficiencyQ24308762
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouseQ24323305
Human homologs of a Drosophila Enhancer of split gene product define a novel family of nuclear proteinsQ24324093
Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesisQ24599714
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 geneQ28139138
Hex is a transcriptional repressor that contributes to anterior identity and suppresses Spemann organiser functionQ28144015
SAP30, a component of the mSin3 corepressor complex involved in N-CoR-mediated repression by specific transcription factorsQ28279441
Association with the nuclear matrix and interaction with Groucho and RUNX proteins regulate the transcription repression activity of the basic helix loop helix factor Hes1Q28571984
The homeobox gene Hesx1 is required in the anterior neural ectoderm for normal forebrain formationQ28593427
Groucho/TLE family proteins and transcriptional repressionQ28609075
Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disordersQ28771771
MR imaging of the pituitary stalk: size, shape, and enhancement patternQ31022720
A conserved motif in goosecoid mediates groucho-dependent repression in Drosophila embryosQ33957503
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patientQ34169421
Role for Hes1-induced phosphorylation in Groucho-mediated transcriptional repressionQ34440560
Groucho acts as a corepressor for a subset of negative regulators, including Hairy and EngrailedQ35196294
Interactions between an HMG-1 protein and members of the Rel familyQ35629097
Drosophila Goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators.Q38338059
Signal-specific co-activator domain requirements for Pit-1 activationQ41006466
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfismQ44505357
Groucho proteins: transcriptional corepressors for specific subsets of DNA-binding transcription factors in vertebrates and invertebratesQ47899785
Rpx: a novel anterior-restricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo.Q48067978
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genesQ48454502
Magnetic resonance imaging in the diagnosis of growth hormone deficiencyQ48473818
The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferationQ48851157
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasiaQ49120156
Nocturnal TSH surge and TRH test response in the evaluation of thyroid axis in hypothalamic pituitary disorders in childhoodQ77748325
P433issue8
P407language of work or nameEnglishQ1860
P921main subjecthomozygosityQ114049690
P304page(s)1192-201
P577publication date2003-10-01
P1433published inJournal of Clinical InvestigationQ3186904
P1476titleA homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction
P478volume112

Reverse relations

cites work (P2860)
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Q41496210Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism
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