Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly
about
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleIdentification of de novo mutations and rare variants in hypoplastic left heart syndromeGenetics of congenital heart disease: the glass half emptyCdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in miceNodal mutant eXtraembryonic ENdoderm (XEN) stem cells upregulate markers for the anterior visceral endoderm and impact the timing of cardiac differentiation in mouse embryoid bodies.Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsThe molecular genetics of holoprosencephaly.Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.Analysis of genotype-phenotype correlations in human holoprosencephaly.Holoprosencephaly: recommendations for diagnosis and managementEmbryonic mesoderm and endoderm induction requires the actions of non-embryonic Nodal-related ligands and Mxtx2Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.Boc modifies the holoprosencephaly spectrum of Cdo mutant mice.The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.NOTCH, a new signaling pathway implicated in holoprosencephaly.A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.Maternal Nodal inversely affects NODAL and STOX1 expression in the fetal placenta.Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defectsZic2 mutation causes holoprosencephaly via disruption of NODAL signalling.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot
P2860
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P2860
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly
description
2009 nî lūn-bûn
@nan
2009 թուականին հրատարակուած գիտական յօդուած
@hyw
2009 թվականին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Cumulative ligand activity of ...... defects and holoprosencephaly
@ast
Cumulative ligand activity of ...... defects and holoprosencephaly
@en
Cumulative ligand activity of ...... defects and holoprosencephaly
@nl
type
label
Cumulative ligand activity of ...... defects and holoprosencephaly
@ast
Cumulative ligand activity of ...... defects and holoprosencephaly
@en
Cumulative ligand activity of ...... defects and holoprosencephaly
@nl
prefLabel
Cumulative ligand activity of ...... defects and holoprosencephaly
@ast
Cumulative ligand activity of ...... defects and holoprosencephaly
@en
Cumulative ligand activity of ...... defects and holoprosencephaly
@nl
P2093
P2860
P50
P1476
Cumulative ligand activity of ...... defects and holoprosencephaly
@en
P2093
Andreas D Baxevanis
Elizabeth Goldmuntz
Erich Roessler
Gretchen Gibney
Jayaprakash D Karkera
Laura E Mitchell
Maia V Ouspenskaia
Peter Bowers
Sharmilla Banerjee-Basu
Wuhong Pei
P2860
P304
P356
10.1016/J.YMGME.2009.05.005
P407
P577
2009-01-01T00:00:00Z