(Q37227067)

19 August 2017

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy (English)

1 reference

19 August 2017

William G Fairbrother

William G Fairbrother

16

0 references

Kyriacos Markianos

Kyriacos Markianos

15

0 references

Alan H. Beggs

Alan H Beggs

18

0 references

Susan T. Iannaccone

9

Susan T Iannaccone

1 reference

19 August 2017

Ozge Ceyhan-Birsoy

1

1 reference

19 August 2017

Pankaj B Agrawal

2

1 reference

19 August 2017

Carlos Hidalgo

3

1 reference

19 August 2017

Klaus Schmitz-Abe

4

1 reference

19 August 2017

Elizabeth T DeChene

5

1 reference

19 August 2017

Lindsay C Swanson

6

1 reference

19 August 2017

Rachel Soemedi

7

1 reference

19 August 2017

Nasim Vasli

8

1 reference

19 August 2017

Perry B Shieh

10

1 reference

19 August 2017

Natasha Shur

11

1 reference

19 August 2017

Jane M Dennison

12

1 reference

19 August 2017

Michael W Lawlor

13

1 reference

19 August 2017

Jocelyn Laporte

14

1 reference

19 August 2017

Henk Granzier

17

1 reference

19 August 2017

language of work or name

English

0 references

publication date

23 August 2013

1 reference

19 August 2017

10

1 reference

based on heuristic

inferred from page(s)

published in

Neurology

1 reference

19 August 2017

81

1 reference

19 August 2017

14

1 reference

19 August 2017

1205-1214

1 reference

Clinical utility gene card for: Centronuclear and myotubular myopathies

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Titin mutation segregates with hereditary myopathy with early respiratory failure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Truncations of titin causing dilated cardiomyopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

6 September 2017

Centronuclear myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Hyperphosphorylation of mouse cardiac titin contributes to transverse aortic constriction-induced diastolic dysfunction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Nebulin, a major player in muscle health and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Role of Titin in Skeletal Muscle Function and Disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Centronuclear myopathies: a widening concept

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Centronuclear (myotubular) myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Sense and stretchability: the role of titin and titin-associated proteins in myocardial stress-sensing and mechanical dysfunction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Targeted deletion of titin N2B region leads to diastolic dysfunction and cardiac atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Titin and its associated proteins: the third myofilament system of the sarcomere

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Mutations in dynamin 2 cause dominant centronuclear myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Systematic identification and analysis of exonic splicing silencers.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

The giant protein titin: a major player in myocardial mechanics, signaling, and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Titin mutations as the molecular basis for dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

dbSNP: the NCBI database of genetic variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

A functional knock-out of titin results in defective myofibril assembly.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

RYR1 mutations are a common cause of congenital myopathies with central nuclei

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795603

Effects of postmortem aging time, animal age, and sex on degradation of titin and nebulin in bovine longissimus muscle

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23975875

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23975875

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3182A6CA62

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

23975875

1 reference