Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. - Wikidata - awgldk - TriplyDB

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

http://www.wikidata.org/entity/Q30513866

about

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).Congenital myopathies: an update Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy.Mutation update: the spectra of nebulin variants and associated myopathies.Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014 In vivo assessment of contractile strength distinguishes differential gene function in skeletal muscle of zebrafish larvae.Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye.Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Force measurement during contraction to assess muscle function in zebrafish larvae.Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations.A two-segment model for thin filament architecture in skeletal muscle.Sarcomere Dysfunction in Nemaline Myopathy.Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy.NO-sGC Pathway Modulates Ca2+ Release and Muscle Contraction in Zebrafish Skeletal Muscle.MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.

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P2860

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

http://www.wikidata.org/entity/Q30513866

description

2011 nî lūn-bûn

@nan

2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

@ast

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

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type

label

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

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Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

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prefLabel

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

@ast

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

@en

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Disease Models & Mechanisms

P1476

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

@en

P2093

Darcee D Nelson

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

James J Dowling

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

Susan V Brooks

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Trent Waugh

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William R Telfer

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P2860

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

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

Nemaline myopathy: a clinical study of 143 cases

The Nebulin family: an actin support group

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

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389-396

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scholarly article

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10.1242/DMM.008631

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3

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5

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2011-12-12T00:00:00Z

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22159874

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3339832

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