(Q28288720)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20656787%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20656787%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

Myosin, heavy polypeptide 6, cardiac muscle, alpha

1 reference

based on heuristic

inferred from title

author

Javier T Granados-Riveron

1

1 reference

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8 February 2020

Edwin P. Kirk

7

1 reference

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8 February 2020

Richard P. Harvey

10

1 reference

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8 February 2020

John A.L. Armour

11

1 reference

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8 February 2020

author name string

Tushar K Ghosh

2

1 reference

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8 February 2020

Mark Pope

3

1 reference

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8 February 2020

Frances Bu'Lock

4

1 reference

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8 February 2020

Christopher Thornborough

5

1 reference

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8 February 2020

Jacqueline Eason

6

1 reference

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8 February 2020

Diane Fatkin

8

1 reference

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8 February 2020

Michael P Feneley

9

1 reference

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8 February 2020

J David Brook

12

1 reference

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8 February 2020

language of work or name

English

0 references

publication date

23 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20656787%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

published in

Human Molecular Genetics

1 reference

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8 February 2020

volume

19

1 reference

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8 February 2020

issue

20

1 reference

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8 February 2020

page(s)

4007-4016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20656787%20AND%20SRC:MED&resulttype=core&format=json

The incidence of congenital heart disease

8 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Causes of congenital heart diseases: old and new modes, mechanisms, and models

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Mutation in myosin heavy chain 6 causes atrial septal defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Absence of heartbeat in the Xenopus tropicalis mutation muzak is caused by a nonsense mutation in cardiac myosin myh6

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Mutation of weak atrium/atrial myosin heavy chain disrupts atrial function and influences ventricular morphogenesis in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

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/10.1093%2FHMG%2FDDQ315

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%2FDDQ315

Functional diversity among a family of human skeletal muscle myosin motors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Hereditary myosin myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Nonsense-mediated decay approaches the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

A 29 residue region of the sarcomeric myosin rod is necessary for filament formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Reversible movement of switch 1 loop of myosin determines actin interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Electron cryo-microscopy shows how strong binding of myosin to actin releases nucleotide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Rigor-like structures from muscle myosins reveal key mechanical elements in the transduction pathways of this allosteric motor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

A structural state of the myosin V motor without bound nucleotide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Myosin transducer mutations differentially affect motor function, myofibril structure, and the performance of skeletal and cardiac muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Crystallographic findings on the internally uncoupled and near-rigor states of myosin: further insights into the mechanics of the motor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Cold-sensitive mutants G680V and G691C of Dictyostelium myosin II confer dramatically different biochemical defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Mutation in the SH1 helix reduces the activation energy of the ATP-induced conformational transition of myosin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Dictyostelium myosin II mutations that uncouple the converter swing and ATP hydrolysis cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Effects of side-chain characteristics on stability and oligomerization state of a de novo-designed model coiled-coil: 20 amino acid substitutions in position "d".

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

α-cardiac actin mutations produce atrial septal defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Early myocardial function affects endocardial cushion development in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315

Measurement of locus copy number by hybridisation with amplifiable probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ315