http://rdf.disgenet.org/resource/nanopub/NP530352.RAmOgqxVmXhww3eMKKiKkAcU0PF_16ZnqT7EJu7mXyp7Y
type: Nanopublication
created: 2015-08-25T14:42:53+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v3.0.0.0

http://rdf.disgenet.org/resource/nanopub/NP530352.RAmOgqxVmXhww3eMKKiKkAcU0PF_16ZnqT7EJu7mXyp7Y130_assertion
type: Assertion
description: [CMD biochemical types include various abnormalities of alpha-dystroglycan O-mannosyl glycosylation as well as defects in integrin matrix receptors, the extracellular matrix proteins laminin-alpha(2) and collagen VI, nuclear proteins such as lamin A/C, and a protein of the endoplasmic reticulum, selenoprotein N. Current therapies are directed mostly at supportive care; however, recent advances in biotechnology and increased knowledge of the pathophysiology underlying the various CMD types have helped identify potential therapeutic strategies directed at genetic, molecular, and biochemical pathways involved in these disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20425232
was generated by: ECO_0000203

befree-20150227
imported on: 2015-02-27

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetv3.0rdf
version: v3.0.0