Hesx1/HESX1
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor corepressor interaction
... cells Hesx1/HESX1 encodes a develop- mental repressor and is expressed in early development in a region fated to form the forebrain, with subsequent localization to Rathke’s pouch, the primordium of the ...
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A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction
... cells Hesx1/HESX1 encodes a develop- mental repressor and is expressed in early development in a region fated to form the forebrain, with subsequent localization to Rathke’s pouch, the primordium of the ...
10
Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders
... gene Hesx1/HESX1 has been implicated in the establishment of anterior pattern in the central nervous system (CNS) in a number of vertebrate ...in HESX1, Ser170Leu ...the HESX1 mutation since ...
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Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain
... a Hesx1-null background is sufficient to improve telencephalic development, two copies of the R26-Cond- Hesx1 allele are required to rescue both telencephalon and eye ...of Hesx1 from the R26 locus, ...
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HESX1 and TCF3 mediated repression of Wnt/β catenin targets is required for normal development of the anterior forebrain
... whether HESX1 acts to maintain anterior forebrain identity by antagonising Wnt signalling, we investigated the effect of reducing hesx1 (previously anf) levels in zygotic headless (hdl; tcf3a, tcf7l1a) ...
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Getting your head around Hex and Hesx1: forebrain formation in mouse
... and Hesx1 are homeobox genes that are expressed in relevant tissues involved in anterior ...and Hesx1 mutant mice has revealed that the lack of these genes has little or no effect on the early steps of ...
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The role of HESX1 in septo-optic dysplasia and its variants
... whilst HESX1(S170L) binds with a 5-fold lower activity (K(d) 150 nM) and HESX1(R160C) does not bind at ...Although HESX1(R160C) has only been shown to be associated with the SOD phenotype in children ...
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Ectopic Posterior Pituitary Lobe and Periventricular Heterotopia: Cerebral Malformations with the Same Underlying Mechanism?
... gene HESX1/Hesx1 in both man and mouse, whereas mice with heterozygous Hesx1 muta- tions have a milder phenotype ...the HESX1 gene in three cases ...of HESX1 has so far been performed ...
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Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis.
... of Hesx1 mutants — the complete ab- sence of the pituitary gland, the failure to restrict FGF8/ 10 out of the rostral ventral diencephalon, and pituitary overgrowth — are consistent with Hesx1 acting in ...
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Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea
... phenotype is further complicated by the evolution of the hor- monal make-up over the lifespan of the patient. Therefore, a detailed endocrine investigation at the time of diagnosis is not sufficient to suggest specific ...
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Preclinical transgenic and patient-derived xenograft models recapitulate the radiological features of human adamantinomatous craniopharyngioma.
... Expression of oncogenic β-catenin in the developing pituitary in Hesx1 Cre/+ ;Ctnnb1 lox(ex3)/+ mice results in tumours resembling human ACP at the histological and molecular levels (11). Despite activation of ...
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