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: UNIPROT:P41002 (
CCNF
)
32
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Previous research has identified
CCNF
mutations in familial (
FALS
) and sporadic amyotrophic lateral sclerosis (SALS), as well as in frontotemporal dementia (FTD). The aim of our study was to measure the frequency of
CCNF
mutations in a Chinese population. In total, 78
FALS
patients, 581 SALS patients and 584 controls were included. We found 19 missense mutations, nine synonymous mutations and two intron variants. According to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, eight variants were judged to be pathogenic or likely pathogenic variants. The frequency of such variants was 2.56% in
FALS
and 1.03% in SALS. In conclusion,
CCNF
mutations are common in
FALS
and SALS patients of Chinese origin, and further study is still needed.
...
PMID:Screening for
CCNF
Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort. 3000 69
