Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy (Q28115580)

3 January 2017

title

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy (English)

1 reference

hypertrophic cardiomyopathy

3 January 2017

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GOA release 2020-03-11

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based on heuristic

inferred from title

familial hypertrophic cardiomyopathy

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13

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7 June 2020

Ana Gutiérrez-Fernández

2

1 reference

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Aurora Astudillo-González

7 June 2020

5

1 reference

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7 June 2020

César Morís

9

1 reference

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7 June 2020

4

Eliecer Coto

2 references

3 January 2017

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7 June 2020

author name string

Rafael Valdés-Mas

1

2 references

3 January 2017

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7 June 2020

Juan Gómez

3

2 references

3 January 2017

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7 June 2020

Victoria Álvarez

8

2 references

3 January 2017

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7 June 2020

Diego León

10

2 references

3 January 2017

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7 June 2020

María Martín

11

2 references

3 January 2017

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7 June 2020

Diana A Puente

6

1 reference

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7 June 2020

Julián R Reguero

7

1 reference

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7 June 2020

Xose S Puente

12

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7 June 2020

language of work or name

English

0 references

publication date

29 October 2014

1 reference

3 January 2017

published in

Nature Communications

2 references

3 January 2017

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7 June 2020

volume

5

2 references

3 January 2017

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7 June 2020

page(s)

5326

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3 January 2017

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Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

7 June 2020

cites work

1 reference

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

21 April 2017

1 reference

When lamins go bad: nuclear structure and disease

21 April 2017

1 reference

Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure

21 April 2017

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Guidelines for investigating causality of sequence variants in human disease

21 April 2017

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Accurate whole human genome sequencing using reversible terminator chemistry

21 April 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

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The Sequence Alignment/Map format and SAMtools

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Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

21 April 2017

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Strategies for multilocus linkage analysis in humans

21 April 2017

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Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

21 April 2017

1 reference

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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

21 April 2017

1 reference

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Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history

21 January 2018

1 reference

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A mutation in the thyroid hormone receptor alpha gene.

21 January 2018

1 reference

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Calmodulin mutations associated with recurrent cardiac arrest in infants

21 January 2018

1 reference

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Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

21 January 2018

1 reference

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American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

21 January 2018

1 reference

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Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity

21 January 2018

1 reference

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A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

21 January 2018

1 reference

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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

21 January 2018

1 reference

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A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.

21 January 2018

1 reference

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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

21 January 2018

1 reference

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21 January 2018

1 reference

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Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6326

Mechanisms of disease: hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6326

'State-of-the-heart' of cardiac laminopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6326

Nuclear lamins and laminopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6326

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

21 January 2018

1 reference

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Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

21 January 2018

1 reference

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Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.

21 January 2018

1 reference

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2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

A paradigm shift in our understanding of the development of the hypertrophic cardiomyopathy phenotype?: not so fast!

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6326

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NCOMMS6326

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25351925%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 June 2020

ADS bibcode

2014NatCo...5.5326V

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1047672251

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1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017