Shun‐Jiang Deng

Germline mutations and pancreatic cancer risk in chronic pancreatitis

Hao Wu, Suizhi Gao, Ling-Di Yin, Yahui Wang et autres

cn (code pays fourni par la source)

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER‐to‐Golgi Transport and Inducing ER Stress

Min‐Jun Wang, Yuan‐Chen Wang, Emmanuelle Masson, Yahui Wang et autres

Abstract Chronic pancreatitis (CP) is a complex disease with genetic and environmental factors at play. Through trio exome sequencing, a de novo SEC16A frameshift variant in a Chinese teenage CP patient is identified. Subsequent targeted next‐generation sequencing of the SEC16A gene in …

cn, fr, gb (code pays fourni par la source)

Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort

Brett Cassidy, Fei Jiang, Lin Jianguo, Jian‐Min Chen et autres

BACKGROUND & AIMS: Protease-sensitive PNLIP variants were recently associated with chronic pancreatitis (CP) in European populations. The pathological mechanism yet remains elusive. Herein, we performed a comprehensive genetic and functional analysis of PNLIP variants found in a large Chinese cohort, aiming to …

us, cn, fr (code pays fourni par la source)

Single-Cell Transcriptomic Analysis of the Mouse Pancreas: Characteristic Features of Pancreatic Ductal Cells in Chronic Pancreatitis

Xiao‐Tong Mao, Sheng-Han Mao, Lei Wang, Hui Jiang et autres

Chronic pancreatitis (CP) is a fibroinflammatory disorder of the pancreas. Our understanding of CP pathogenesis is partly limited by the incomplete characterization of pancreatic cell types. Here, we performed single-cell RNA sequencing on 3825 cells from the pancreas of one control mouse …

cn (code pays fourni par la source)

The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice

Xiao‐Tong Mao, Wen‐Bin Zou, Yu Cao, Yuan‐Chen Wang et autres

BACKGROUND & AIMS: A hybrid allele that originated from homologous recombination between CEL and its pseudogene (CELP), CEL-HYB1 increases the risk of chronic pancreatitis (CP). Although suggested to cause digestive enzyme misfolding, definitive in vivo evidence for this postulate has been lacking. …

cn, gb, fr (code pays fourni par la source)

Homozygosity of short VNTR lengths in the CEL gene may confer susceptibility to idiopathic chronic pancreatitis

Xiao‐Tong Mao, Shun‐Jiang Deng, Rui-Lin Kang, Yuan‐Chen Wang et autres

cn (code pays fourni par la source)

Analysis of GPRC6A variants in different pancreatitis etiologies

Tom Kaune, Claudia Ruffert, Nico Hesselbarth, Marko Damm et autres

de, fr, nl, it, ro, pl, cn, hu (code pays fourni par la source)

Cover, Volume 41, Issue 8

Wen‐Bin Zou, Yuan‐Chen Wang, Xinlu Ren, Lei Wang et autres

The cover image is based on the Rapid Communication TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population by Wen-Bin Zou et al., https://doi.org/10.1002/humu.24032.

cn (code pays fourni par la source)

TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population

Wen‐Bin Zou, Yuan‐Chen Wang, Xinlu Ren, Shun‐Jiang Deng et autres

Chronic pancreatitis (CP) is a progressive fibroinflammatory syndrome of the pancreatic tissue caused by genetic and environmental factors. Previously reported susceptibility genes in CP explain less than half of the apparent heritability. To uncover novel pathogenic mechanisms, we initially performed low-coverage whole-genome …

cn (code pays fourni par la source)

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Jin‐Huan Lin, Xin‐Ying Tang, Arnaud Boulling, Wen‐Bin Zou et autres

It has long been known that canonical 5' splice site (5'SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5'SSs capable of generating wild-type transcripts in the case of GT>GC substitutions remains unknown. Herein, …

fr, cn, gb, lu (code pays fourni par la source)

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Xin‐Ying Tang, Jin‐Huan Lin, Wen‐Bin Zou, Emmanuelle Masson et autres

BACKGROUND: The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between the results of this assay and in silico splicing prediction was apparent. However, …

cn, fr, gb (code pays fourni par la source)

First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

Jin‐Huan Lin, Xin‐Ying Tang, Arnaud Boulling, Wen‐Bin Zou et autres

ABSTRACT It has long been known that canonical 5’ splice site (5’SS) GT>GC mutations may be compatible with normal splicing. However, to date, the true scale of canonical 5’SS GT>GC mutations generating wild-type transcripts, both in the context of the frequency of …

fr, cn (code pays fourni par la source)