Desmin splice variants causing cardiac and skeletal myopathy (Q35433637)

8 August 2017

Desmin splice variants causing cardiac and skeletal myopathy (English)

1 reference

8 August 2017

K Y Park

1

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8 August 2017

M C Dalakas

2

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8 August 2017

H H Goebel

3

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8 August 2017

V J Ferrans

4

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8 August 2017

C Semino-Mora

5

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8 August 2017

S Litvak

6

1 reference

8 August 2017

K Takeda

7

1 reference

8 August 2017

L G Goldfarb

8

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8 August 2017

language of work or name

English

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publication date

1 November 2000

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Journal of Medical Genetics

8 August 2017

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8 August 2017

37

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8 August 2017

851-857

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8 August 2017

11

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Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Desmin mutation responsible for idiopathic dilated cardiomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

A dysfunctional desmin mutation in a patient with severe generalized myopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Desmin in muscle formation and maintenance: knockouts and consequences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Intermediate filaments: structure, dynamics, function, and disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: a model for many degenerative diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

The amino acid sequence of chicken muscle desmin provides a common structural model for intermediate filament proteins.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Splicing of messenger RNA precursors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Desmin-related myopathies

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Null mutation in the desmin gene gives rise to a cardiomyopathy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Desmin-related neuromuscular disorders

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734475

A simple method for calculating the probability of excluding paternity with any number of codominant alleles

26 September 2018

1 reference

12 December 2020

Proteinchemical characterization of three structurally distinct domains along the protofilament unit of desmin 10 nm filaments

1 reference

12 December 2020

Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization

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12 December 2020

Assembly of carboxy-terminally deleted desmin in vimentin-free cells

1 reference

12 December 2020

EcoRV RFLP of the desmin (DES) gene and MspI RFLP of the villin (VIL1) gene on human chromosome 2

1 reference

12 December 2020

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

12 December 2020

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy

1 reference

12 December 2020

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

1 reference

12 December 2020

Muscle-specific expression of a dominant negative desmin mutant in transgenic mice

1 reference

12 December 2020

Intermediate filaments as mechanical integrators of cellular space

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.11.851

1 reference

8 August 2017

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8 August 2017

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