Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0025362 (
mental retardation
)
15,878
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Down syndrome (DS) is the most common cause of cognitive impairment associated with a congenital chromosomal abnormality, trisomy of chromosome 21.
Mental retardation
and congenital heart defects are key features of DS. All DS individuals develop early-onset Alzheimer's disease-like neuropathology. Intersectin 1 gene is localized on human chromosome 21, the critical region of DS, and it has higher expression in the brain of DS patients than in normal individuals. So fully understanding functions of
intersectin 1
is critical for revealing the pathogenesis of DS. Intersectin 1 protein has two isoforms:
intersectin 1
-L and
intersectin 1
-S. This review will focus on the distribution, expression characters and functions of
intersectin 1
in the central nervous system.
...
PMID:Intersectin 1: a molecular linker in the central nervous system. 1903 27
