A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy (Q24311671)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

title

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

0 references

1 reference

GOA release 2020-03-11

muscle contraction

1 reference

GOA release 2020-03-11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Vicart P

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Caron A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Prévost MC

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Faure A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Chateau D

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Chapon F

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Tomé F

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Dupret JM

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Paulin D

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Fardeau M

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

language of work or name

English

0 references

publication date

1 September 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

page(s)

92-95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

Familial desmin-related myopathies and cardiomyopathies--from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20-22 October, 1995, Naarden, The Netherlands

3 December 2019

cites work

1 reference

7 January 2021

A structural scaffolding of intermediate filaments in health and disease

1 reference

7 January 2021

alpha B subunit of lens-specific protein alpha-crystallin is present in other ocular and non-ocular tissues

1 reference

7 January 2021

Expression of the murine alpha B-crystallin gene is not restricted to the lens

1 reference

7 January 2021

Storage of phosphorylated desmin in a familial myopathy

1 reference

7 January 2021

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

1 reference

7 January 2021

Subregional physical mapping of an alpha B-crystallin sequence and of a new expressed sequence D11S877E to human 11q.

1 reference

7 January 2021

A metric map of humans: 23,500 loci in 850 bands

1 reference

7 January 2021

Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle

1 reference

7 January 2021

Alpha B-crystallin in cardiac tissue. Association with actin and desmin filaments

1 reference

7 January 2021

Characterization, cloning, and expression of porcine alpha B crystallin

1 reference

7 January 2021

MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase

1 reference

7 January 2021

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

1 reference

7 January 2021

Small heat shock proteins and protection against ischemic injury in cardiac myocytes

1 reference

7 January 2021

alpha B-crystallin and hsp25 in neonatal cardiac cells--differences in cellular localization under stress conditions.

1 reference

7 January 2021

Transient regulation of c-fos, alpha B-crystallin, and hsp70 in muscle during recovery from contractile activity

1 reference

7 January 2021

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration

1 reference

7 January 2021

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

1 reference

7 January 2021

Familial desmin myopathies and cytoplasmic body myopathies

1 reference

7 January 2021

Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship

1 reference

7 January 2021

Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain

1 reference

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

7 January 2021

Genotyping Procedures in Linkage Mapping

1 reference

7 January 2021

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

7 January 2021

Actin filaments and the growth, movement, and spread of the intracellular bacterial parasite, Listeria monocytogenes

1 reference

7 January 2021

Identifiers

DOI

10.1038/1765

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 December 2019

1053524612

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731540%20AND%20SRC:MED&resulttype=core&format=json