Shun-Jiang Deng

TL;DR: Evidence is provided that rare pathogenic variants in the SPINK1, PRSS1, CTRC, and CFTR genes significantly influence the age of onset and clinical outcomes of CP.

TL;DR: Evidence is provided suggesting that TRPV6 is a novel susceptibility gene for CP, and the entire coding sequence and exon/intron boundaries of the TPRV6 gene were analyzed by Sanger sequencing.

TL;DR: It is demonstrated that the canonical 5′SSs in which substitution of GT by GC‐generated normal transcripts exhibit stronger complementarity to the 5′ end of U1 snRNA than those sites whose substitutions ofGT by GC did not lead to the generation of normal transcripts.

TL;DR: In this paper , a humanized form of CEL-HYB1 was found to increase the risk of chronic pancreatitis and malignancy in mice, and the severity of acute pancreatitis was increased by caerulein injections.

TL;DR: An operational pipeline for classifying SPINK1 intronic variants in the clinical diagnostic setting is proposed and the accuracy and efficiency of in silico prediction in combination with the cell culture-based full-length gene assay is demonstrated.