Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
about
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic developmentMutation of SALL2 causes recessive ocular coloboma in humans and miceARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesNovel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionCandidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohortComplex architecture and regulated expression of the Sox2ot locus during vertebrate developmentControl of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factorsEtiology and treatment of hypogonadism in adolescentsWhere hearing starts: the development of the mammalian cochleaPleiotropic effects of Sox2 during the development of the zebrafish epithalamusA GRFa2/Prop1/stem (GPS) cell niche in the pituitaryTargeting SOX2 as a Therapeutic Strategy in GlioblastomaEtiology and treatment of hypogonadism in adolescentsGenetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary developmentSOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland.Discovery of transcriptional regulators and signaling pathways in the developing pituitary gland by bioinformatic and genomic approaches.Direct transcriptional regulation of Six6 is controlled by SoxB1 binding to a remote forebrain enhancerGenetic regulation of pituitary gland development in human and mouseCleft Palate in a Mouse Model of SOX2 HaploinsufficiencyThe HMG-box transcription factor Sox4b is required for pituitary expression of gata2a and specification of thyrotrope and gonadotrope cells in zebrafish.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Pituitary gland development and disease: from stem cell to hormone productionSox2 is essential for formation of trophectoderm in the preimplantation embryo.Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypesSOX2 is required for inner ear neurogenesis.SOX2 hypomorphism disrupts development of the prechordal floor and optic cupRegulation of cell fate and patterning in the developing mammalian cochlea.Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal.Novel SOX2 partner-factor domain mutation in a four-generation familySepto-optic dysplasiaA Sox2 BAC transgenic approach for targeting adult neural stem cells.OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotypeActivation of Sox3 gene by thyroid hormone in the developing adult intestinal stem cell during Xenopus metamorphosisDisruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia.Chromosome abnormalities and the genetics of congenital corneal opacification.Genetic regulation of murine pituitary development.Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringGenetics, gene expression and bioinformatics of the pituitary gland.Keeping an eye on SOXC proteins.
P2860
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P2860
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
description
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2006
@ast
im August 2006 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2006/09/01)
@sk
vědecký článek publikovaný v roce 2006
@cs
wetenschappelijk artikel (gepubliceerd op 2006/09/01)
@nl
наукова стаття, опублікована у вересні 2006
@uk
مقالة علمية (نشرت في سبتمبر 2006)
@ar
name
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@ast
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@en
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@nl
type
label
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@ast
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@en
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@nl
prefLabel
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@ast
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@en
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@nl
P2093
P2860
P50
P3181
P356
P1476
Mutations within Sox2/SOX2 are ...... onadal axis in mice and humans
@en
P2093
Ariel Avilion
Daniel Kelberman
Danielle Carmignac
Iain C A F Robinson
Jeremy M W Kirk
Julie Collins
Maria Bitner-Glindzicz
Mehul T Dattani
Richard Ross
Robin Lovell-Badge
P2860
P304
P3181
P356
10.1172/JCI28658
P407
P577
2006-08-24T00:00:00Z