Variations in the serine protease 1 (PRSS1) gene encoding human cationic trypsinogen
have been conclusively associated with autosomal dominant hereditary pancreatitis and …

Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis
was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic …

Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …

Mutations in human cationic trypsinogen (PRSS1) cause autosomal dominant hereditary
pancreatitis. Increased intrapancreatic autoactivation of trypsinogen mutants has been …

Researchers this past year have further characterized genetic, molecular and clinical
aspects of chronic pancreatitis. Advancing the understanding of fibrogenesis, mechanisms …

Background PRSS1 was the first reported chronic pancreatitis (CP) gene. The existence of
both gain-of-function (GoF) and gain-of-proteotoxicity (GoP) pathological PRSS1 variants …

Since the description of the PRSS1 gene encoding the cationic trypsinogen as being
involved in dominant hereditary pancreatitis, more than 50 PRSS1 variants have been …

遗传性胰腺炎(HP) 是一种罕见的常染色体遗传病, 表现为胰腺炎反复发作, 常并发3c
型糖尿病(T3cDM), 甚至导致胰腺癌的发生, 影响患者的生活质量及预后. 本文报道了1 …

The sequelae of pancreas surgery are determined by the type of procedure, the extent of the
parenchymal resection and the underlying disorder. In ductal carcinoma, the outcome is …

All but one of the human trypsinogen genes are intercalated between the b T-cell receptor
genes on chromosome 7 [1]. Three nonfunctioning trypsinogen genes are located at the 5 …