(Q35857041)

10 August 2017

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy (English)

1 reference

10 August 2017

10

Robert H Baloh

1 reference

10 August 2017

Matthew B Harms

1

1 reference

10 August 2017

R Brian Sommerville

2

1 reference

10 August 2017

Peggy Allred

3

1 reference

10 August 2017

Shaughn Bell

4

1 reference

10 August 2017

Duanduan Ma

5

1 reference

10 August 2017

Paul Cooper

6

1 reference

10 August 2017

Glenn Lopate

7

1 reference

10 August 2017

Alan Pestronk

8

1 reference

10 August 2017

Conrad C Weihl

9

1 reference

10 August 2017

14 February 2012

1 reference

10 August 2017

1 reference

10 August 2017

71

1 reference

10 August 2017

3

1 reference

10 August 2017

407-416

1 reference

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Revisiting Mendelian disorders through exome sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Role of DnaJ G/F-rich domain in conformational recognition and binding of protein substrates

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

27 July 2018

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Co-chaperones are limiting in a depleted chaperone network

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

DNAJB6 induces degradation of beta-catenin and causes partial reversal of mesenchymal phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Prion-like disorders: blurring the divide between transmissibility and infectivity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

The Sequence Alignment/Map format and SAMtools

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Computational analysis of the human HSPH/HSPA/DNAJ family and cloning of a human HSPH/HSPA/DNAJ expression library

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Structural and functional diversities between members of the human HSPB, HSPH, HSPA, and DNAJ chaperone families.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Specificity of class II Hsp40 Sis1 in maintenance of yeast prion [RNQ+].

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

The role of Sis1 in the maintenance of the [RNQ+] prion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Myotilin is mutated in limb girdle muscular dystrophy 1A

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related 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=3314127

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Parametric and nonparametric linkage analysis: a unified multipoint approach

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Faster sequential genetic linkage computations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Implications of the prion-related Q/N domains in TDP-43 and FUS.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

BEDTools: a flexible suite of utilities for comparing genomic features

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

DnaJB6 is present in the core of Lewy bodies and is highly up-regulated in parkinsonian astrocytes.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

A Drosophila ortholog of the human MRJ modulates polyglutamine toxicity and aggregation

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Myotilinopathy: refining the clinical and myopathological phenotype

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Mechanisms for regulation of Hsp70 function by Hsp40

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Characterization of a brain-enriched chaperone, MRJ, that inhibits Huntingtin aggregation and toxicity independently

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314127

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.22683

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

21 January 2018

1 reference

12 December 2020

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

1 reference

12 December 2020

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

1 reference

12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

12 December 2020

The Mrj co-chaperone mediates keratin turnover and prevents the formation of toxic inclusion bodies in trophoblast cells of the placenta

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.22683

1 reference

10 August 2017

1 reference

10 August 2017

1 reference