Familial pancreatic cancer

C Shi, RH Hruban, AP Klein - Archives of pathology & …, 2009 - meridian.allenpress.com
Abstract Context.—Approximately 5% to 10% of individuals with pancreatic cancer report a
history of pancreatic cancer in a close family member. In addition, several known genetic …

Hereditary pancreatitis: current perspectives

KL Raphael, FF Willingham - Clinical and experimental …, 2016 - Taylor & Francis
Hereditary pancreatitis (HP) is a rare cause of acute, recurrent acute, and chronic
pancreatitis. It may present similarly to other causes of acute and chronic pancreatitis, and …

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

H Witt, M Sahin-Tóth, O Landt, JM Chen, T Kähne… - Nature …, 2006 - nature.com
Chronic pancreatitis is a common inflammatory disease of the pancreas. Mutations in the
genes encoding cationic trypsinogen (PRSS1) and the pancreatic secretory trypsin inhibitor …

Mirror-image trypsin digestion and sequencing of D-proteins

G Zhang, TF Zhu - Nature Chemistry, 2024 - nature.com
The development of mirror-image biology systems and related applications is hindered by
the lack of effective methods to sequence mirror-image (D-) proteins. Although natural …

The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease

J Threadgold, W Greenhalf, I Ellis, N Howes, MM Lerch… - Gut, 2002 - gut.bmj.com
Background: Mutations in the PRSS1 gene explain most occurrences of hereditary
pancreatitis (HP) but many HP families have no PRSS1 mutation. Recently, an association …

Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen

M Sahin-Tóth, M Tóth - Biochemical and biophysical research …, 2000 - Elsevier
Hereditary pancreatitis (HP), an autosomal dominant disorder, has been associated with
mutations in the cationic trypsinogen gene. Here we demonstrate that the two most frequent …

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis

E Masson, JM Chen, V Scotet, C Le Maréchal, C Férec - Human genetics, 2008 - Springer
Extensive genetic studies of chronic pancreatitis over the past decade have highlighted the
importance of a tightly regulated balance between activation and inactivation of trypsin …

Hereditary pancreatitis caused by mutation‐induced misfolding of human cationic trypsinogen: a novel disease mechanism

É Kereszturi, R Szmola, Z Kukor, P Simon… - Human …, 2009 - Wiley Online Library
We investigated the biochemical properties and cellular expression of the c. 346C> T (p.
R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German …

Autoantibodies against the exocrine pancreas in autoimmune pancreatitis: gene and protein expression profiling and immunoassays identify pancreatic enzymes as a …

JM Löhr, R Faissner, D Koczan… - Official journal of the …, 2010 - journals.lww.com
OBJECTIVES: Autoimmune pancreatitis (AIP) is thought to be an immune-mediated
inflammatory process, directed against the epithelial components of the pancreas. The …

Cathepsin L inactivates human trypsinogen, whereas cathepsin L-deletion reduces the severity of pancreatitis in mice

T Wartmann, J Mayerle, T Kähne, M Sahin–Tóth… - Gastroenterology, 2010 - Elsevier
BACKGROUND & AIMS: Acute pancreatitis is characterized by an activation cascade of
digestive enzymes in the pancreas. The first of these, trypsinogen, can be converted to …