α-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects (Q28288720)

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

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

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scholarly article

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

8 February 2020

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

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

8 February 2020

congenital disorder

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based on heuristic

inferred from title

Myosin, heavy polypeptide 6, cardiac muscle, alpha

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based on heuristic

inferred from title

Javier T Granados-Riveron

1

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8 February 2020

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8 February 2020

Richard P. Harvey

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8 February 2020

John A.L. Armour

11

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8 February 2020

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Tushar K Ghosh

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8 February 2020

Mark Pope

3

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8 February 2020

Frances Bu'Lock

4

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8 February 2020

Christopher Thornborough

5

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8 February 2020

Jacqueline Eason

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8 February 2020

Diane Fatkin

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8 February 2020

Michael P Feneley

9

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8 February 2020

J David Brook

12

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8 February 2020

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23 July 2010

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8 February 2020

Human Molecular Genetics

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8 February 2020

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8 February 2020

20

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8 February 2020

4007-4016

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8 February 2020

The incidence of congenital heart disease

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Mutation in myosin heavy chain 6 causes atrial septal defect

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Functional diversity among a family of human skeletal muscle myosin motors

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Hereditary myosin myopathies

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Nonsense-mediated decay approaches the clinic

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Reversible movement of switch 1 loop of myosin determines actin interaction

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

A structural state of the myosin V motor without bound nucleotide

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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".

1 reference

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

21 January 2018

α-cardiac actin mutations produce atrial septal defects

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis

1 reference

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

21 January 2018

Early myocardial function affects endocardial cushion development in zebrafish

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Measurement of locus copy number by hybridisation with amplifiable probes

1 reference

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

21 January 2018

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy

1 reference

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

21 January 2018

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