Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation (Q39406800)

11 September 2017

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation (English)

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negative regulation of osteoblast differentiation

11 September 2017

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GOA release 2020-03-11

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1

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Helen M. Arthur

11

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Darroch Hall

4

object named as

Darroch Hall

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Linda Sneddon

object named as

Linda Sneddon

6

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Judith A Goodship

12

object named as

Judith A Goodship

1 reference

11 September 2017

Elise Glen

2

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11 September 2017

Ana Töpf

3

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11 September 2017

Darroch Hall

4

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11 September 2017

John J O'Sullivan

5

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11 September 2017

Christopher Wren

7

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11 September 2017

Peter Avery

8

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11 September 2017

Richard J Lewis

9

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11 September 2017

Peter ten Dijke

10

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11 September 2017

Bernard D Keavney

13

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11 September 2017

language of work or name

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14 February 2012

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11 September 2017

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33

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4

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720-727

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on focus list of Wikimedia project

11 September 2017

ScienceSource

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cites work

Preferential activation of SMAD1/5/8 on the fibrosa endothelium in calcified human aortic valves--association with low BMP antagonists and SMAD6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

TGFβ signaling and congenital heart disease: Insights from mouse studies

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

BMP signaling in congenital heart disease: new developments and future directions

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

A map of human genome variation from population-scale sequencing

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Dominant-negative ALK2 allele associates with congenital heart defects

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

BMP type II receptor regulates positioning of outflow tract and remodeling of atrioventricular cushion during cardiogenesis

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Genetic interaction between Bmp2 and Bmp4 reveals shared functions during multiple aspects of mouse organogenesis

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Bmp2 instructs cardiac progenitors to form the heart-valve-inducing field

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Alk3/Bmpr1a receptor is required for development of the atrioventricular canal into valves and annulus fibrosus

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Coot: model-building tools for molecular graphics

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Bone morphogenetic protein-2 can mediate myocardial regulation of atrioventricular cushion mesenchymal cell formation in mice

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Bmp4 signaling is required for outflow-tract septation and branchial-arch artery remodeling

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

An essential role of Bmp4 in the atrioventricular septation of the mouse heart

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

BMP signaling is required for septation of the outflow tract of the mammalian heart

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

The N domain of Smad7 is essential for specific inhibition of transforming growth factor-beta signaling

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Identification and functional characterization of distinct critically important bone morphogenetic protein-specific response elements in the Id1 promoter

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

NKX2.5 mutations in patients with tetralogy of fallot

11 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

11 September 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Smad6 as a transcriptional corepressor

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

A role for smad6 in development and homeostasis of the cardiovascular system

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Roles of bone morphogenetic protein type I receptors and Smad proteins in osteoblast and chondroblast differentiation.

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Congenital heart disease caused by mutations in the transcription factor NKX2-5

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Smad6 inhibits BMP/Smad1 signaling by specifically competing with the Smad4 tumor suppressor

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Mice deficient for BMP2 are nonviable and have defects in amnion/chorion and cardiac development

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Bone morphogenetic protein-2 converts the differentiation pathway of C2C12 myoblasts into the osteoblast lineage

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Cooperative inhibition of bone morphogenetic protein signaling by Smurf1 and inhibitory Smads

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Endothelial expression of bone morphogenetic protein receptor type 1a is required for atrioventricular valve formation

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Essential functions of Alk3 during AV cushion morphogenesis in mouse embryonic hearts.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

NKX2.5mutations in patients with congenital heart disease

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Smad6 inhibits signalling by the TGF-beta superfamily.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492913

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22030

Recurrence of Congenital Heart Defects in Families

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22275001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Selective inhibitory effects of Smad6 on bone morphogenetic protein type I receptors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22275001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22030

1 reference

11 September 2017

1 reference

11 September 2017

1 reference