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:C0002736 (
amyotrophic lateral sclerosis
)
19,048
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Amyotrophic lateral sclerosis
(
ALS
) is a fatal neurodegenerative disorder. A recent study has identified mutations in the ANXA11 gene (encoding the calcium-binding protein annexin A11) associated with
ALS
. Mutation screening of
ANXA11 protein
-coding exons was performed in a Chinese cohort of 434 patients with sporadic
ALS
and 50 index patients with familial
ALS
. Polymerase chain reaction and Sanger sequencing were used for mutation detection. We failed to discover an N-terminal mutation, which was common in the Caucasian cohort. We revealed two rare heterozygous missense variants, c.878C>T (p.A293V) and c.921C>G (p.I307M), which are absent from the population databases and non-neurological controls. They are both located in the conserved annexin domain. The carriers of the mutation exhibited the classical
ALS
phenotype without cognitive impairment. Our results suggested that further functional studies for these variants are required to support the pathogenicity.
...
PMID:Two rare variants of the ANXA11 gene identified in Chinese patients with amyotrophic lateral sclerosis. 3033 94
