α-cardiac actin mutations produce atrial septal defects (Q24298075)

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9 January 2020

title

Alpha-cardiac actin mutations produce atrial septal defects (English)

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Actin alpha cardiac muscle 1

9 January 2020

main subject

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GOA release 2020-03-11

heart contraction

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GOA release 2020-03-11

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9 January 2020

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Javier T Granados-Riveron

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Hans Matsson

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9 January 2020

Jacqueline Eason

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9 January 2020

Carol S Bookwalter

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9 January 2020

Peter Gustavsson

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Jan Sunnegårdh

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9 January 2020

Henrik Enell

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Anders Jonzon

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9 January 2020

Ilse Gutierrez

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Frances Bu'Lock

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Jane Cox

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Thelma E Robinson

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9 January 2020

Feifei Song

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9 January 2020

Steven Marston

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Kathleen M Trybus

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Niklas Dahl

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Mark Pope

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language of work or name

English

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publication date

18 October 2007

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9 January 2020

published in

Human Molecular Genetics

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volume

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issue

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page(s)

256-265

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Incidence of congenital heart disease: I. Postnatal incidence.

9 January 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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Mutation in myosin heavy chain 6 causes atrial septal defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

The functional importance of multiple actin isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy

21 January 2018

1 reference

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A series of normal stages in the development of the chick embryo. 1951

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Actin bundles on the right side in the caudal part of the heart tube play a role in dextro-looping in the embryonic chick heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Role of actin polymerization in bending of the early heart tube

21 January 2018

1 reference

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Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

21 January 2018

1 reference

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Tropomyosin positions in regulated thin filaments revealed by cryoelectron microscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

21 January 2018

1 reference

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Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy

21 January 2018

1 reference

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Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

21 January 2018

1 reference

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Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

21 January 2018

1 reference

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Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

21 January 2018

1 reference

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Cardiac septation: a late contribution of the embryonic primary myocardium to heart morphogenesis

21 January 2018

1 reference

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Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis

21 January 2018

1 reference

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Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin

21 January 2018

1 reference

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Cellular Disorganization and Extensive Apoptosis in the Developing Heart of Mice that Lack Cardiac Muscle α-Actin: Apparent Cause of Perinatal Death

21 January 2018

1 reference

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Development and structure of the atrial septum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Skeletal actin mRNA increases in the human heart during ontogenic development and is the major isoform of control and failing adult hearts

21 January 2018

1 reference

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Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

21 January 2018

1 reference

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Biochemical studies of myosin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

Glycine 699 is pivotal for the motor activity of skeletal muscle myosin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

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

21 January 2018

1 reference

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Connexin alpha1 and cell proliferation in the developing chick retina.

21 January 2018

1 reference

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Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

21 January 2018

1 reference

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α-Actin isoform distribution in normal and failing human heart: a morphological, morphometric, and biochemical study

21 January 2018

1 reference

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A 5' duplication of the alpha-cardiac actin gene in BALB/c mice is associated with abnormal levels of alpha-cardiac and alpha-skeletal actin mRNAs in adult cardiac tissue.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

7 January 2021

Dominant mode of inheritance in atrial septal defect

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

7 January 2021

The familial form of atrial septal defect

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

7 January 2021

Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

7 January 2021

Unilateral vitelline vein ligation alters intracardiac blood flow patterns and morphogenesis in the chick embryo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM302

7 January 2021

Identifiers

DOI

10.1093/HMG/DDM302

2 references

Consolidated OpenCitations Corpus – April 2017

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9 January 2020

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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