Increasing Role of Titin Mutations in Neuromuscular Disorders. - Test2 - elhamkhani - TriplyDB

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Increasing Role of Titin Mutations in Neuromuscular Disorders.

http://www.wikidata.org/entity/Q37441312

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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.The histone code reader Spin1 controls skeletal muscle development.TITINdb-a computational tool to assess titin's role as a disease gene.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.[Titin-related muscle disorders: an expanding spectrum].The complexity of titin splicing pattern in human adult skeletal muscles.Calcium increases titin N2A binding to F-actin and regulated thin filaments

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Increasing Role of Titin Mutations in Neuromuscular Disorders.

http://www.wikidata.org/entity/Q37441312

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on August 2016

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Increasing Role of Titin Mutations in Neuromuscular Disorders.

@en

Increasing Role of Titin Mutations in Neuromuscular Disorders.

@nl

type

label

Increasing Role of Titin Mutations in Neuromuscular Disorders.

@en

Increasing Role of Titin Mutations in Neuromuscular Disorders.

@nl

prefLabel

Increasing Role of Titin Mutations in Neuromuscular Disorders.

@en

Increasing Role of Titin Mutations in Neuromuscular Disorders.

@nl

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Journal of neuromuscular diseases

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Increasing Role of Titin Mutations in Neuromuscular Disorders

@en

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Anna Vihola

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Bjarne Udd

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Peter Hackman

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Creative Commons Attribution-NonCommercial 4.0 License

P2860

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain

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

The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules

Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo.

α-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin

Mechanoenzymatics of titin kinase.

Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin

Molecular structure of the sarcomeric Z-disk: two types of titin interactions lead to an asymmetrical sorting of alpha-actinin.

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293-308

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scholarly article

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10.3233/JND-160158

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3

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3

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Jaakko Sarparanta

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2016-08-01T00:00:00Z

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27854229

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neuromuscular disease

contractile proteins

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5123623

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