Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations (Q34898379)

5 August 2017

title

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations (English)

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5 August 2017

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12

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5 August 2017

11

Jeffrey A Towbin

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5 August 2017

author name string

Bhagyalaxmi Mohapatra

1

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5 August 2017

Brett Casey

2

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5 August 2017

Hua Li

3

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5 August 2017

Trang Ho-Dawson

4

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5 August 2017

Liana Smith

5

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5 August 2017

Susan D Fernbach

6

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5 August 2017

Laura Molinari

7

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5 August 2017

Stephen R Niesh

8

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5 August 2017

John Lynn Jefferies

9

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5 August 2017

William J Craigen

10

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5 August 2017

Stephanie M Ware

13

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5 August 2017

language of work or name

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8 December 2008

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5 August 2017

published in

Human Molecular Genetics

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5 August 2017

volume

18

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5 August 2017

issue

5

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5 August 2017

page(s)

861-871

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Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

5 August 2017

cites work

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

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Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease

8 July 2018

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Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.

8 July 2018

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Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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TGF-beta3-dependent SMAD2 phosphorylation and inhibition of MEE proliferation during palatal fusion

8 July 2018

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Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

8 July 2018

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PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

8 July 2018

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Extraembryonic proteases regulate Nodal signalling during gastrulation

8 July 2018

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Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

8 July 2018

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Activin type IIA and IIB receptors mediate Gdf11 signaling in axial vertebral patterning

8 July 2018

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

8 July 2018

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Signal transduction by the TGF-beta superfamily

8 July 2018

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

8 July 2018

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Establishment of vertebrate left-right asymmetry

8 July 2018

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CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

8 July 2018

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Nodal signaling in early vertebrate embryos: themes and variations

8 July 2018

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The activity and signaling range of mature BMP-4 is regulated by sequential cleavage at two sites within the prodomain of the precursor

8 July 2018

1 reference

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Left-right asymmetry determination in vertebrates

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

The transcription factor FoxH1 (FAST) mediates Nodal signaling during anterior-posterior patterning and node formation in the mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Genetic dissection of nodal function in patterning the mouse embryo

8 July 2018

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

8 July 2018

1 reference

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The zebrafish forkhead transcription factor FoxH1/Fast1 is a modulator of nodal signaling required for organizer formation

8 July 2018

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Nodal signalling in vertebrate development.

8 July 2018

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Postgastrulation Smad2-deficient embryos show defects in embryo turning and anterior morphogenesis

8 July 2018

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

8 July 2018

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

8 July 2018

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Cripto is required for correct orientation of the anterior-posterior axis in the mouse embryo

8 July 2018

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TGF-beta signal transduction

8 July 2018

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Zebrafish organizer development and germ-layer formation require nodal-related signals

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Failure of egg cylinder elongation and mesoderm induction in mouse embryos lacking the tumor suppressor smad2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Smad2 role in mesoderm formation, left-right patterning and craniofacial development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

X-linked situs abnormalities result from mutations in ZIC3

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Left/right patterning signals and the independent regulation of different aspects of situs in the chick embryo.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

A differential display strategy identifies Cryptic, a novel EGF-related gene expressed in the axial and lateral mesoderm during mouse gastrulation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Relationship between asymmetric nodal expression and the direction of embryonic turning

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Nodal is a novel TGF-beta-like gene expressed in the mouse node during gastrulation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Processed Vg1 protein is an axial mesoderm inducer in Xenopus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

A primary requirement for nodal in the formation and maintenance of the primitive streak in the mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

A novel retrovirally induced embryonic lethal mutation in the mouse: assessment of the developmental fate of embryonic stem cells homozygous for the 413.d proviral integration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Overexpression of Smad2 in Tgf-beta3-null mutant mice rescues cleft palate

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene?

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Nodal signaling uses activin and transforming growth factor-beta receptor-regulated Smads

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Endogenous patterns of TGFbeta superfamily signaling during early Xenopus development.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Links in the left/right axial pathway.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Functional differences among Xenopus nodal-related genes in left-right axis determination.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2722226

The EGF-CFC protein one-eyed pinhead is essential for nodal signaling

9 December 2018

1 reference

12 December 2020

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect

1 reference

12 December 2020

Evidence for Purifying Selection Against Synonymous Mutations in Mammalian Exonic Splicing Enhancers

1 reference

12 December 2020

Left-right asymmetric expression of lefty2 and nodal is induced by a signaling pathway that includes the transcription factor FAST2

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDN411

1 reference

5 August 2017

1 reference

5 August 2017

1 reference