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:C0021843 (
bowel obstruction
)
9,927
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
In Cftr-/- mice that mostly die because of
intestinal obstruction
, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in
CLCA1
, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that
CLCA1
has similar important functions in CF-related
intestinal obstruction
in humans as in Cftr-/- mice.
...
PMID:Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis. 2017 44
