Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders
about
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismCorepressors TLE1 and TLE3 interact with HESX1 and PROP1Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohortDNMT1 interacts with the developmental transcriptional repressor HESX1A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interactionMutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humansEvolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherersGenetic regulation of pituitary gland development in human and mouseExtra-pituitary Cerebral Anomalies in Pediatric Patients of Ectopic Neurohypophysis: An Uncommon Association.MRI findings of coexistence of ectopic neurohypophysis, corpus callosum dysgenesis, and periventricular neuronal heterotopia.Human gene-centered transcription factor networks for enhancers and disease variants.Restricted growth and insulin-like growth factor-1 deficiency in mice lacking presenilin-1 in the neural crest cell lineage.Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrainTranscription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.Transcriptional activation by Oct4 is sufficient for the maintenance and induction of pluripotency.Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus.Identification of HESX1 mutations in Kallmann syndrome.Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.A gene network regulated by FGF signalling during ear development.Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes.
P2860
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P2860
Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders
description
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2001
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scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2001/12/01)
@nl
wissenschaftlicher Artikel
@de
наукова стаття, опублікована в грудні 2001
@uk
مقالة علمية (نشرت في ديسمبر 2001)
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name
Molecular effects of novel mut ...... with human pituitary disorders
@ast
Molecular effects of novel mut ...... with human pituitary disorders
@en
type
label
Molecular effects of novel mut ...... with human pituitary disorders
@ast
Molecular effects of novel mut ...... with human pituitary disorders
@en
prefLabel
Molecular effects of novel mut ...... with human pituitary disorders
@ast
Molecular effects of novel mut ...... with human pituitary disorders
@en
P2093
P1433
P1476
Molecular effects of novel mut ...... with human pituitary disorders
@en
P2093
J M Brickman
M Clements
R S Beddington
P304
P407
P577
2001-12-01T00:00:00Z