Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
about
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic developmentARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesOver- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismSyndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.Corepressors TLE1 and TLE3 interact with HESX1 and PROP1Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesisNovel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionCandidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohortA role of the LIM-homeobox gene Lhx2 in the regulation of pituitary developmentDNMT1 interacts with the developmental transcriptional repressor HESX1A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiencyA homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interactionFactor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.Recent advances in central congenital hypothyroidismEtiology and treatment of hypogonadism in adolescentsWnt signaling is regulated by endoplasmic reticulum retentionSuperactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteinsThe organizer factors Chordin and Noggin are required for mouse forebrain developmentEtiology and treatment of hypogonadism in adolescentsRequirement for beta-catenin in anterior-posterior axis formation in miceWNT signaling affects gene expression in the ventral diencephalon and pituitary gland growthNoggin regulates Bmp4 activity during pituitary inductionGenetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary developmentRibosomal protein L24 defect in belly spot and tail (Bst), a mouse MinuteSOX3 is required during the formation of the hypothalamo-pituitary axisOtx1 and Otx2 in the development and evolution of the mammalian brain.Visually impaired children with posterior ocular malformations: pre- and neonatal data and visual functions.Combined pituitary hormone deficiency: current and future status.Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate.Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases.Hypopituitarism oddities: congenital causes.Mutagenesis of diploid mammalian genes by gene entrapment.Genetic regulation of pituitary gland development in human and mouseRepressor activity of Headless/Tcf3 is essential for vertebrate head formation.Mechanisms for pituitary tumorigenesis: the plastic pituitary.Transcription factors in dysmorphology.Pituitary gland development and disease: from stem cell to hormone productionSequence and location of SIX3, a homeobox gene expressed in the human eye.Genetics of human hypogonadotropic hypogonadism.
P2860
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P2860
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@ast
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@en
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@en-gb
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@nl
type
label
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@ast
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@en
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@en-gb
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@nl
prefLabel
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@ast
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@en
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@en-gb
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@nl
P2093
P2860
P921
P356
P1433
P1476
Mutations in the homeobox gene ...... c dysplasia in human and mouse
@en
P2093
H Toresson
I C Robinson
I L Mårtensson
J M Brickman
J P Martinez-Barbera
M T Dattani
P C Hindmarsh
P Q Thomas
P2860
P2888
P304
P356
10.1038/477
P407
P577
1998-06-01T00:00:00Z
P6179
1007603004