A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia (Q24645034)

24

0 references

Kumarasamy Thangaraj

25

0 references

Nick Patterson

21

0 references

David Reich

22

0 references

Gareth T. Powell

Gareth T Powell

4

0 references

Taranjit Singh Rai

Taranjit Singh Rai

7

0 references

Pedro Soares

Pedro Soares

9

0 references

Qasim Ayub

Qasim Ayub

16

0 references

Martin B Richards

Martin B Richards

19

0 references

Madhu Khullar

Madhu Khullar

8

0 references

Alkes Price

20

Alkes L Price

0 references

Stephen J Oppenheimer

18

Stephen Oppenheimer

0 references

Deepa Selvi Rani

5

Deepa Selvi Rani

0 references

author name string

Perundurai S Dhandapany

1

0 references

Sakthivel Sadayappan

2

0 references

Yali Xue

3

0 references

Prathiba Nallari

6

0 references

Ajay Bahl

10

0 references

Jagan Mohan Tharkan

11

0 references

Pradeep Vaideeswar

12

0 references

Andiappan Rathinavel

13

0 references

Calambur Narasimhan

14

0 references

Dharma Rakshak Ayapati

15

0 references

S Qasim Mehdi

17

0 references

Lalji Singh

A second generation human haplotype map of over 3.1 million SNPs

23

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language of work or name

English

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publication date

February 2009

0 references

published in

Nature Genetics

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volume

41

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issue

2

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page(s)

187-91

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Genetic affinities among the lower castes and tribal groups of India: inference from Y chromosome and mitochondrial DNA

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Cardiac myosin binding protein C phosphorylation is cardioprotective

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Reconstructing the origin of Andaman Islanders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Changes in cardiac contractility related to calcium-mediated changes in phosphorylation of myosin-binding protein C.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Risk factors for early myocardial infarction in South Asians compared with individuals in other countries

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Responding to the threat of chronic diseases in India

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Correlation of regional cardiovascular disease mortality in India with lifestyle and nutritional factors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Molecular genetics and genomics of heart failure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

A novel variant of cardiac myosin-binding protein-C that is unable to assemble into sarcomeres is expressed in the aged mouse atrium

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Structural evidence for the interaction of C-protein (MyBP-C) with actin and sequence identification of a possible actin-binding domain.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

Biomolecular interactions between human recombinant β-MyHC and cMyBP-Cs implicated in familial hypertrophic cardiomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes

30 May 2018

1 reference

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy

21 January 2018

1 reference

Ventricular arrhythmia vulnerability in cardiomyopathic mice with homozygous mutant Myosin-binding protein C gene

21 January 2018

1 reference

Phenotypic deficits in mice expressing a myosin binding protein C lacking the titin and myosin binding domains

21 January 2018

1 reference

Age-dependent declines in proteasome activity in the heart

21 January 2018

1 reference

Sarcomeric genotyping in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2697598

4-Hydroxy-2-nonenal-mediated impairment of intracellular proteolysis during oxidative stress. Identification of proteasomes as target molecules

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19151713

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.309

1 reference

Dimensions Publication ID

1011501769

0 references

1 reference

1 reference

PubMed publication ID

19151713

1 reference