Mutations in the human SIX3 gene in holoprosencephaly are loss of function
about
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defectsComplexity 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.Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.Holoprosencephaly: a guide to diagnosis and clinical managementHoloprosencephaly: recommendations for diagnosis and managementThe unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Boc modifies the holoprosencephaly spectrum of Cdo mutant mice.The visual system of zebrafish and its use to model human ocular diseases.Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsSix3 cooperates with Hedgehog signaling to specify ventral telencephalon by promoting early expression of Foxg1a and repressing Wnt signaling.Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionMissense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Pathogenesis of holoprosencephalyThe genetics of ocular disorders: insights from the zebrafish.Ethanol alters gene expression and cell organization during optic vesicle evagination.Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.A trans-Regulatory Code for the Forebrain Expression of Six3.2 in the Medaka Fish.SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.A novel SIX3 mutation segregates with holoprosencephaly in a large family.
P2860
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P2860
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@ast
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@en
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@en-gb
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@nl
type
label
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@ast
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@en
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@en-gb
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@nl
prefLabel
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@ast
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@en
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@en-gb
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@nl
P2093
P2860
P50
P921
P356
P1476
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
@en
P2093
Erich Roessler
Felicitas Lacbawan
Jamie L Brown
Maximilian Muenke
Mirit Snir
Sabina Domené
Sherri Bale
P2860
P304
P356
10.1093/HMG/DDN294
P407
P577
2008-09-12T00:00:00Z