Prevalence of Titin Truncating Variants in General Population (Q35877860)

10 August 2017

Prevalence of Titin Truncating Variants in General Population (English)

1 reference

10 August 2017

Oyediran Akinrinade

1

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author name string

Juha W Koskenvuo

series ordinal

2

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10 August 2017

Tero-Pekka Alastalo

series ordinal

3

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10 August 2017

language of work or name

English

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publication date

23 December 2015

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10 August 2017

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10 August 2017

10

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10 August 2017

12

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10 August 2017

e0145284

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Creative Commons Attribution 4.0 International

10 August 2017

start time

23 December 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

1 reference

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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Atlas of the clinical genetics of human dilated cardiomyopathy

11 July 2018

1 reference

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Clinical interpretation and implications of whole-genome sequencing

11 July 2018

1 reference

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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

11 July 2018

1 reference

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Alterations in cardiac DNA methylation in human dilated cardiomyopathy

11 July 2018

1 reference

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An integrated map of genetic variation from 1,092 human genomes

11 July 2018

1 reference

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

11 July 2018

1 reference

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Population-based variation in cardiomyopathy genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Truncations of titin causing dilated cardiomyopathy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Distinct epigenomic features in end-stage failing human hearts

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

A map of human genome variation from population-scale sequencing

11 July 2018

1 reference

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Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

11 July 2018

1 reference

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Titin mutations as the molecular basis for dilated cardiomyopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

24 September 2018

1 reference

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Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

24 September 2018

1 reference

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Atypical phenotypes in titinopathies explained by second titin mutations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Single base-pair substitutions in pathology and evolution: two sides to the same coin.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

5-Methylcytosine as an Endogenous Mutagen in the Human LDL Receptor and p53 Genes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4689403

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26701604

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel titin mutation in adult-onset familial dilated cardiomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26701604

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0145284

1 reference

10 August 2017

0 references

1 reference

10 August 2017

PubMed publication ID

26701604

1 reference