A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
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SIX2 and BMP4 mutations associate with anomalous kidney developmentEmerging roles of nodal and Cripto-1: from embryogenesis to breast cancer progressionCumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyNodal morphogensLoss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humansFunctional analysis of mutations in TGIF associated with holoprosencephaly.The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological ConsiderationsIntraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brainGenetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning.Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.Holoprosencephaly.Analysis of genotype-phenotype correlations in human holoprosencephaly.RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders.NOTCH, a new signaling pathway implicated in holoprosencephaly.Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly.Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionReduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephalyMolecular analysis of holoprosencephaly in South America.Comparative DNA methylation and gene expression analysis identifies novel genes for structural congenital heart diseases.Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.Transforming growth-interacting factor (TGIF) regulates proliferation and differentiation of human myeloid leukemia cells.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly
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P2860
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
description
2002 nî lūn-bûn
@nan
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A loss-of-function mutation in ...... d with human forebrain defects
@ast
A loss-of-function mutation in ...... d with human forebrain defects
@en
A loss-of-function mutation in ...... d with human forebrain defects
@nl
type
label
A loss-of-function mutation in ...... d with human forebrain defects
@ast
A loss-of-function mutation in ...... d with human forebrain defects
@en
A loss-of-function mutation in ...... d with human forebrain defects
@nl
prefLabel
A loss-of-function mutation in ...... d with human forebrain defects
@ast
A loss-of-function mutation in ...... d with human forebrain defects
@en
A loss-of-function mutation in ...... d with human forebrain defects
@nl
P2093
P1433
P1476
A loss-of-function mutation in ...... d with human forebrain defects
@en
P2093
A James Barkovich
Alexander F Schier
Dian Donnai
Erich Roessler
June M de la Cruz
Maximilian Muenke
Rebecca D Burdine
Richard N Bamford
P2888
P356
10.1007/S00439-002-0709-3
P407
P577
2002-05-01T00:00:00Z
P5875
P6179
1023504459