(Q21134934)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

12

Andreas Perrot

Andreas

Perrot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

13

Felix Berger

Felix

Berger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

14

Roland Hetzer

Roland

Hetzer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Maximilian G Posch

1

Maximilian G

Posch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Stephan Waldmuller

2

Stephan

Waldmuller

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Melanie Müller

3

Melanie

Müller

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Thomas Scheffold

4

Thomas

Scheffold

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

David Fournier

5

David

Fournier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Miguel A Andrade-Navarro

6

Miguel A

Andrade-Navarro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Bernard De Geeter

7

Bernard

De Geeter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Sophie Guillaumont

8

Sophie

Guillaumont

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Claire Dauphin

9

Claire

Dauphin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Dany Yousseff

10

Dany

Yousseff

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Katharina R Schmitt

11

Katharina R

Schmitt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Patrice Bouvagnet

15

Patrice

Bouvagnet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Cemil Özcelik

16

Cemil

Özcelik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

14 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

e28872

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

19 January 2020

copyright license

start time

14 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Massively parallel sequencing: the next big thing in genetic medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

α-cardiac actin mutations produce atrial septal defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Mutation in myosin heavy chain 6 causes atrial septal defect

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

MUSCLE: multiple sequence alignment with high accuracy and high throughput

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

A structural state of the myosin V motor without bound nucleotide

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Three-dimensional image reconstruction of dephosphorylated smooth muscle heavy meromyosin reveals asymmetry in the interaction between myosin heads and placement of subfragment 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

α-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Multiple sequence alignment using ClustalW and ClustalX

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

The Jpred 3 secondary structure prediction server

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

WWW-query: an on-line retrieval system for biological sequence banks

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Molecular genetics of congenital atrial septal defects

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Sarcomeric proteins and inherited cardiomyopathies.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Hereditary myosin myopathies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

The structure of the rigor complex and its implications for the power stroke

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Spare the rod, spoil the regulation: necessity for a myosin rod.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3237499

Frequency and phenotypes of familial dilated cardiomyopathy.

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028872

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028872

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028872

Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028872

Recurrence of Congenital Heart Defects in Families

21 January 2018

1 reference

12 December 2020

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

1 reference

12 December 2020

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

1 reference

12 December 2020

Fiber types and myosin types in human atrial and ventricular myocardium. An anatomical description

1 reference

12 December 2020

Development changes in the human cardiac isomyosin distribution: an immunohistochemical study using monoclonal antibodies

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0028872

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

ADS bibcode

2011PLoSO...628872P

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194935%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

22194935

2 references