Associated Papers
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Angyal D et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
A novel case of diabetes MODY1 and chronic hereditary pancreatitis: coexistence of two infrequent genetic mutations.
Cordero-Vázquez E et al.
Endocrinologia, Diabetes Y Nutricion, 2022
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Girodon E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Sofia VM et al.
Molecular Medicine (cambridge, Mass.), 2016
Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.
Koziel D et al.
Bmc Gastroenterology, 2015
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Beer S et al.
Gut, 2013
Chymotrypsin C mutations in chronic pancreatitis.
Zhou J et al.
Journal of Gastroenterology and Hepatology, 2011
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
Rosendahl J et al.
Nature Genetics, 2008
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