(Q34300847)

1 August 2017

title

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy (English)

1 reference

hypertrophic cardiomyopathy

1 August 2017

main subject

1 reference

Hu Wang

1

1 reference

1 August 2017

Zhaohui Li

2

1 reference

1 August 2017

Jizheng Wang

3

1 reference

1 August 2017

Kai Sun

4

1 reference

1 August 2017

Qiqiong Cui

5

1 reference

1 August 2017

Lei Song

6

1 reference

1 August 2017

Yubao Zou

7

1 reference

1 August 2017

Xiaojian Wang

8

1 reference

1 August 2017

Xuan Liu

9

1 reference

1 August 2017

Rutai Hui

10

1 reference

1 August 2017

Yuxin Fan

11

1 reference

1 August 2017

language of work or name

English

0 references

publication date

21 October 2010

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

87

1 reference

1 August 2017

issue

5

1 reference

1 August 2017

page(s)

687-693

1 reference

A method and server for predicting damaging missense mutations

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

A contemporary approach to hypertrophic cardiomyopathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Mechanical stress-strain sensors embedded in cardiac cytoskeleton: Z disk, titin, and associated structures

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

The sarcomeric Z-disc: a nodal point in signalling and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Historical trends in reported survival rates in patients with hypertrophic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

The genetic basis for cardiac remodeling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Hypertrophy of the heart: a new therapeutic target?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

A signalling pathway controlling c-Myc degradation that impacts oncogenic transformation of human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

SIFT: Predicting amino acid changes that affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Human non-synonymous SNPs: server and survey

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Hypertrophic cardiomyopathy: a systematic review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Sudden death in hypertrophic cardiomyopathy: identification of high risk patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Nexilin: a novel actin filament-binding protein localized at cell-matrix adherens junction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Converging pathways and principles in heart development and disease: CV@CSH.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978958

Hypertrophic cardiomyopathy

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20970104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Z-disc genes in hypertrophic cardiomyopathy: stretching the cardiomyopathies?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20970104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.10.002

1 reference

1 August 2017

1 reference

1 August 2017

1 reference