Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation (Q30388756)

17 August 2017

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation (English)

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17 August 2017

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12

Carlos D Bustamante

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17 August 2017

8

Steven D Colan

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17 August 2017

Julian R Homburger

1

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17 August 2017

Eric M Green

2

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17 August 2017

Colleen Caleshu

3

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17 August 2017

Margaret S Sunitha

4

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17 August 2017

Rebecca E Taylor

5

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17 August 2017

Kathleen M Ruppel

6

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17 August 2017

Raghu Prasad Rao Metpally

7

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17 August 2017

Michelle Michels

9

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17 August 2017

Sharlene M Day

10

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17 August 2017

Iacopo Olivotto

11

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17 August 2017

Frederick E Dewey

13

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17 August 2017

Carolyn Y Ho

14

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17 August 2017

James A Spudich

15

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17 August 2017

Euan A Ashley

16

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17 August 2017

language of work or name

English

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publication date

31 May 2016

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Proceedings of the National Academy of Sciences of the United States of America

17 August 2017

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17 August 2017

113

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17 August 2017

24

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17 August 2017

6701-6706

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describes a project that uses

17 August 2017

1 reference

10 June 2022

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=4914177

cites work

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Quantifying prion disease penetrance using large population control cohorts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Hypertrophic Cardiomyopathy in Children, Adolescents, and Young Adults Associated With Low Cardiovascular Mortality With Contemporary Management Strategies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Structural basis for drug-induced allosteric changes to human β-cardiac myosin motor activity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Hypertrophic cardiomyopathy: still connecting the dots between genotype and phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

The myosin mesa and a possible unifying hypothesis for the molecular basis of human hypertrophic cardiomyopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

The I-TASSER Suite: protein structure and function prediction.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Myosinome: a database of myosins from select eukaryotic genomes to facilitate analysis of sequence-structure-function relationships

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Update on activities at the Universal Protein Resource (UniProt) in 2013

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Population-based variation in cardiomyopathy genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Crystal Structure of a Phosphorylated Light Chain Domain of Scallop Smooth-Muscle Myosin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Cardiac Myosin Activation: A Potential Therapeutic Approach for Systolic Heart Failure

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Myosins: tails (and heads) of functional diversity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Mutations profile in Chinese patients with hypertrophic cardiomyopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

ModLoop: automated modeling of loops in protein structures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Structure validation by Calpha geometry: phi,psi and Cbeta deviation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Mutation of the myosin converter domain alters cross-bridge elasticity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Reduced surface: an efficient way to compute molecular surfaces

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Comparative protein modelling by satisfaction of spatial restraints

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

The interaction of C-protein with heavy meromyosin and subfragment-2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4914177

Clinical course of hypertrophic cardiomyopathy with survival to advanced age.

20 June 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1606950113

Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1606950113

Clinical course of hypertrophic cardiomyopathy in a regional United States cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1606950113

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1606950113

Prevalence, Clinical Significance, and Genetic Basis of Hypertrophic Cardiomyopathy With Restrictive Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1606950113

2011 ASCB Annual Meeting abstracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1606950113

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy

21 January 2018

1 reference

12 December 2020

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy

1 reference

12 December 2020

Late-Breaking Clinical Trial Abstracts

1 reference

12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1606950113

1 reference

17 August 2017

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17 August 2017

PubMed publication ID

27247418

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