Desmin splice variants causing cardiac and skeletal myopathy. - Wikidata - awgldk - TriplyDB

Desmin splice variants causing cardiac and skeletal myopathy.

Desmin splice variants causing cardiac and skeletal myopathy.

http://www.wikidata.org/entity/Q35433637

about

A neurotoxic peripherin splice variant in a mouse model of ALS Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy Desminopathies in muscle disease.Desminopathies: pathology and mechanisms.Identification and cytoprotective function of a novel nestin isoform, Nes-S, in dorsal root ganglia neurons.Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease Molecular pathology of myofibrillar myopathies.Intermediate filament diseases: desminopathy.Desmin-related myopathy.On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.Actin-related myopathy without any missense mutation in the ACTA1 gene.The role of heat shock proteins and co-chaperones in heart failure.Molecular insights into cardiomyopathies associated with desmin (DES) mutations

P2860

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P2860

Desmin splice variants causing cardiac and skeletal myopathy.

http://www.wikidata.org/entity/Q35433637

description

2000 nî lūn-bûn

@nan

2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2000年の論文

@ja

2000年学术文章

@wuu

2000年学术文章

@zh-cn

2000年学术文章

@zh-hans

2000年学术文章

@zh-my

2000年学术文章

@zh-sg

2000年學術文章

@yue

name

Desmin splice variants causing cardiac and skeletal myopathy.

@ast

Desmin splice variants causing cardiac and skeletal myopathy.

@en

type

label

Desmin splice variants causing cardiac and skeletal myopathy.

@ast

Desmin splice variants causing cardiac and skeletal myopathy.

@en

prefLabel

Desmin splice variants causing cardiac and skeletal myopathy.

@ast

Desmin splice variants causing cardiac and skeletal myopathy.

@en

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P1433

Journal of Medical Genetics

P1476

Desmin splice variants causing cardiac and skeletal myopathy.

@en

P2093

C Semino-Mora

http://www.w3.org/2001/XMLSchema#string

H H Goebel

http://www.w3.org/2001/XMLSchema#string

K Takeda

http://www.w3.org/2001/XMLSchema#string

K Y Park

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L G Goldfarb

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M C Dalakas

http://www.w3.org/2001/XMLSchema#string

S Litvak

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V J Ferrans

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P2860

A dysfunctional desmin mutation in a patient with severe generalized myopathy

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

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?

Intermediate filaments: structure, dynamics, function, and disease

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

Splicing of messenger RNA precursors

Desmin mutation responsible for idiopathic dilated cardiomyopathy.

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

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

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

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851-857

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scholarly article

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10.1136/JMG.37.11.851

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11

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37

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2000-11-01T00:00:00Z

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274432777

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11073539

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1734475

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