Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

[HTML][HTML] Pathophysiology of chronic pancreatitis

C Brock, LM Nielsen, D Lelic… - World journal of …, 2013 - ncbi.nlm.nih.gov
Chronic pancreatitis (CP) is an inflammatory disease of the pancreas characterized by
progressive fibrotic destruction of the pancreatic secretory parenchyma. Despite the …

Pediatric chronic pancreatitis is associated with genetic risk factors and substantial disease burden

SJ Schwarzenberg, M Bellin, SZ Husain, M Ahuja… - The Journal of …, 2015 - Elsevier
Objective To determine the clinical presentation, diagnostic variables, risk factors, and
disease burden in children with chronic pancreatitis. Study design We performed a cross …

Hereditary pancreatitis in the United States: survival and rates of pancreatic cancer

CA Shelton, C Umapathy, K Stello… - Official journal of the …, 2018 - journals.lww.com
OBJECTIVES: Hereditary pancreatitis (HP), an autosomal dominant disease typically
caused by mutations inPRSS1, has a broad range of clinical characteristics and high …

Genetic risk in chronic pancreatitis: the misfolding-dependent pathway

M Sahin-Tóth - Current opinion in gastroenterology, 2017 - journals.lww.com
Genetic risk in chronic pancreatitis: the misfolding-depende... : Current Opinion in
Gastroenterology Genetic risk in chronic pancreatitis: the misfolding-dependent pathway …

The role of genetics in pancreatitis

A Hasan, DI Moscoso… - Gastrointestinal …, 2018 - giendo.theclinics.com
Individuals with recurrent acute and chronic pancreatitis (CP) may have an inherited
predisposition to the development of the disease. Pancreatitis in the setting of a significant …

Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C

A Szabó, M Sahin-Tóth - Journal of Biological Chemistry, 2012 - ASBMB
Mutations in human cationic trypsinogen (PRSS1) cause autosomal dominant hereditary
pancreatitis. Increased intrapancreatic autoactivation of trypsinogen mutants has been …

An overview of hereditary pancreatitis

V Rebours, P Lévy, P Ruszniewski - Digestive and Liver Disease, 2012 - Elsevier
Hereditary pancreatitis is a rare cause of chronic pancreatitis. The prevalence was
evaluated to 0.3/100000 in Western Countries. Genetic disorders are due to mutations of the …

Nationwide survey of hereditary pancreatitis in Japan

A Masamune, K Kikuta, S Hamada, E Nakano… - Journal of …, 2018 - Springer
Background Hereditary pancreatitis (HP) is a rare cause of chronic pancreatitis. We here
report a nationwide survey to clarify the epidemiological, genetic, and clinical features of HP …

Is screening for pancreatic cancer in high-risk groups cost-effective?–Experience from a Danish national screening program

MT Joergensen, AM Gerdes, J Sorensen… - Pancreatology, 2016 - Elsevier
Objective Pancreatic cancer (PC) is the fourth leading cause of cancer death worldwide,
symptoms are few and diffuse, and when the diagnosis has been made only 10–15% would …