Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. - Wikidata - awgldk - TriplyDB

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

http://www.wikidata.org/entity/Q34898379

about

PCSK6 is associated with handedness in individuals with dyslexia SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly Genetics of congenital heart disease: the glass half empty Transposition of great arteries: new insights into the pathogenesis Of mice and men: molecular genetics of congenital heart disease Spectrum of clinical diseases caused by disorders of primary cilia Left-right asymmetry in the light of TOR: An update on what we know so far A human laterality disorder caused by a homozygous deleterious mutation in MMP21 NPHP4 variants are associated with pleiotropic heart malformations.Analysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population.Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist.Pitx2 prevents susceptibility to atrial arrhythmias by inhibiting left-sided pacemaker specification Genetic basis of congenital cardiovascular malformations Geometry of the Gene Expression Space of Individual Cells Changing Faces of Transcriptional Regulation Reflected by Zic3 New Genetic Insights into Congenital Heart Disease.Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry.MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1.Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease Cilia and coordination of signaling networks during heart development.Advances in molecular genetics for pulmonary atresia.Genetics of Congenital Heart Disease: Past and Present.Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management.Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.Rare copy number variants in patients with congenital conotruncal heart defects.Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.Novel copy-number variants in a population-based investigation of classic heterotaxy.Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.Transposition of the great arteries: A laterality defect in the group of heterotaxy syndromes or an outflow tract malformation?A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease

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P2860

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

http://www.wikidata.org/entity/Q34898379

description

2008 nî lūn-bûn

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2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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name

Identification and functional ...... cardiovascular malformations.

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Identification and functional ...... cardiovascular malformations.

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Identification and functional ...... cardiovascular malformations.

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type

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Identification and functional ...... cardiovascular malformations.

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Identification and functional ...... cardiovascular malformations.

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Identification and functional ...... cardiovascular malformations.

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Identification and functional ...... cardiovascular malformations.

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Identification and functional ...... cardiovascular malformations.

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Identification and functional ...... cardiovascular malformations.

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Human Molecular Genetics

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Identification and functional ...... cardiovascular malformations.

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Bhagyalaxmi Mohapatra

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Brett Casey

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Hua Li

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John Lynn Jefferies

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Laura Molinari

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Liana Smith

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Stephanie M Ware

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Stephen R Niesh

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Susan D Fernbach

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Trang Ho-Dawson

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P2860

TGF-beta signal transduction

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Cripto-1 activates nodal- and ALK4-dependent and -independent signaling pathways in mammary epithelial Cells

Dual roles of Cripto as a ligand and coreceptor in the nodal signaling pathway.

X-linked situs abnormalities result from mutations in ZIC3

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans

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861-871

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10.1093/HMG/DDN411

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5

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18

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John W. Belmont

Jeffrey A Towbin

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2008-12-08T00:00:00Z

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23639995

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19064609

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Aparato circulatorio

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2722226

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