Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
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ABCB6 mutations cause ocular colobomaMutations in the human SIX3 gene in holoprosencephaly are loss of functionMutation of SALL2 causes recessive ocular coloboma in humans and miceHeterozygous mutations of OTX2 cause severe ocular malformationsAn immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.Mutational screening of 10 genes in Chinese patients with microphthalmia and/or colobomaSix3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain developmentFunctional analysis of mutations in TGIF associated with holoprosencephaly.Repression of Six3 by a corepressor regulates rhodopsin expressionExclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndromeMolecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesisPhysiological functions of MTA family of proteinsExpression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closureExpression of evolutionarily conserved eye specification genes during Drosophila embryogenesisHaploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephalyEmbryonic fibroblasts from mice lacking Tgif were defective in cell cyclingGenetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary developmentRegulation of a remote Shh forebrain enhancer by the Six3 homeoproteinThe sine oculis homeobox (SIX) family of transcription factors as regulators of development and diseaseSimple and efficient CRISPR/Cas9-mediated targeted mutagenesis in Xenopus tropicalis.Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.Six4, a putative myogenin gene regulator, is not essential for mouse embryonal development.Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage.Single median maxillary central incisor: new data and mutation review.Complexity of cis-regulatory organization of six3a during forebrain and eye development in zebrafish.Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsThe molecular genetics of holoprosencephaly.Analysis of genotype-phenotype correlations in human holoprosencephaly.PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.Genomic identification of regulatory elements by evolutionary sequence comparison and functional analysisLong-range control of gene expression: emerging mechanisms and disruption in disease.Molecular evolution of the homeodomain family of transcription factorsGenetic approaches to understanding brain development: holoprosencephaly as a model.Holoprosencephaly: a guide to diagnosis and clinical managementSHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.Six and Eya promote apoptosis through direct transcriptional activation of the proapoptotic BH3-only gene egl-1 in Caenorhabditis elegans.Molecular regulation of the developing commissural platePrenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
P2860
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P2860
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@ast
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@en
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@en-gb
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@nl
type
label
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@ast
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@en
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@en-gb
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@nl
prefLabel
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@ast
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@en
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@en-gb
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@nl
P2093
P921
P356
P1433
P1476
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
@en
P2093
A Richieri-Costa
D E Wallis
E H Zackai
E Roessler
G Gillessen-Kaesbach
T Wiltshire
P2888
P356
10.1038/9718
P407
P577
1999-06-01T00:00:00Z
P5875
P6179
1053521999