Mutation in myosin heavy chain 6 causes atrial septal defect (Q24296801)

atrial cardiac muscle tissue morphogenesis

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Arnold Munnich

16

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Gloria Ribas Despuig

9

object named as

Gloria Ribas

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Siobhan Loughna

object named as

Siobhan Loughna

6

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author name string

Yung-Hao Ching

1

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Tushar K Ghosh

2

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Steve J Cross

3

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Elizabeth A Packham

4

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Louise Honeyman

5

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Thelma E Robinson

7

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Andrew M Dearlove

8

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Andrew J Bonser

10

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Neil R Thomas

11

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Andrew J Scotter

12

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Leo S D Caves

13

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Graham P Tyrrell

14

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Ruth A Newbury-Ecob

15

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Damien Bonnet

17

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J David Brook

Structure of the regulatory domain of scallop myosin at 2.8 A resolution

18

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language of work or name

English

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publication date

April 2005

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published in

Nature Genetics

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volume

37

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issue

4

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page(s)

423-8

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cites work

1 reference

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome

20 April 2017

1 reference

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

20 April 2017

1 reference

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

20 April 2017

1 reference

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

20 April 2017

1 reference

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

20 April 2017

1 reference

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

20 April 2017

1 reference

The Genetic Basis for Cardiomyopathy

20 April 2017

1 reference

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

20 April 2017

1 reference

Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation

20 April 2017

1 reference

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

20 April 2017

1 reference

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

20 April 2017

1 reference

Comparative protein modelling by satisfaction of spatial restraints

20 April 2017

1 reference

Patterns of expression in the developing myocardium: towards a morphologically integrated transcriptional model.

20 April 2017

1 reference

Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium

21 January 2018

1 reference

Myosin heavy chain isoform expression in the failing and nonfailing human heart

21 January 2018

1 reference

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

21 January 2018

1 reference

The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression

21 January 2018

1 reference

GATA-4 and Nkx-2.5 coactivate Nkx-2 DNA binding targets: role for regulating early cardiac gene expression

21 January 2018

1 reference

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

21 January 2018

1 reference

Roles for alpha 1 connexin in morphogenesis of chick embryos revealed using a novel antisense approach.

21 January 2018

1 reference

Connexin alpha1 and cell proliferation in the developing chick retina.

21 January 2018

1 reference

Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children

21 January 2018

1 reference

Biospecific interaction analysis using surface plasmon resonance detection applied to kinetic, binding site and concentration analysis

21 January 2018

1 reference

Origin of mesenchymal tissue in the septum primum: a structural and ultrastructural study

21 January 2018

1 reference

7 January 2021

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

1 reference

7 January 2021

Human cardiac myosin heavy chain isoforms in fetal and failing adult atria and ventricles

1 reference

7 January 2021

Isomyosin expression in developing chicken atria: a marker for the development of conductive tissue?

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1526

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1903143

1030699590

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Fatcat ID

release_ttgcxnwghjbsdm27txj2cgy54a

0 references

1903143

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference