نتایج جستجو برای: spink1

تعداد نتایج: 252  

Journal: :Clinical Chemistry 2016

2017
Muyun Liu Tian Xia Di Zhang Lianghao Hu Zhuan Liao Chang Sun Zhaoshen Li

Background. The clinical pattern and genetic background of juvenile idiopathic chronic pancreatitis (ICP) are yet unclear. Methods. A retrospective study of 73 Chinese juvenile ICP patients was performed, and genetic tests were carried out to detect relevant mutations using direct sequencing technique and high-resolution melting technique. Subjects without pancreatitis served as controls. Resul...

2015
Chang Sun Mu-Yun Liu Xiao-Gang Liu Liang-Hao Hu Tian Xia Zhuan Liao Zhao-Shen Li

Endoscopic interventional is a commonly used treatment method for idiopathic chronic pancreatitis. Serine protease inhibitor Kazal type 1 (SPINK1) 194+2T>C mutation is most frequently observed in Chinese pancreatitis patients and influences the clinical course of idiopathic chronic pancreatitis patients. We conducted this study to determine the impacts of this mutation on the outcome of endosco...

Journal: :American journal of human genetics 2002
Zahid Hassan Viswananthan Mohan Liaquat Ali Rebecca Allotey Khalid Barakat M Omar Faruque Raj Deepa Michael F McDermott Alan E Jackson Paul Cassell David Curtis Susan V Gelding Shanti Vijayaravaghan Niklaus Gyr David C Whitcomb A K Azad Khan Graham A Hitman

Fibrocalculous pancreatic diabetes (FCPD) is a secondary cause of diabetes due to chronic pancreatitis. Since the N34S variant of the SPINK1 trypsin inhibitor gene has been found to partially account for genetic susceptibility to chronic pancreatitis, we used a family-based and case-control approach in two separate ethnic groups from the Indian subcontinent, to determine whether N34S was associ...

2015
Marcio Garrison Dytz Julia Mendes de Melo Olga de Castro Santos Isabel Durso da Silva Santos Melanie Rodacki Flavia Lucia Conceição Tania Maria Ortiga-Carvalho Bulent Kantarceken.

Hereditary pancreatitis (HP) is an autosomal-dominant disease with incomplete penetrance manifesting as early-onset chronic relapsing pancreatitis. A mutation in the PRSS1 gene is present in greater than 70% of HP kindreds and leads to a gain-of-function characterized by the increased autocatalytic conversion of trypsinogen to active trypsin, promoting autodigestion and damage to acinar cells. ...

2016
BYEONG-JOO NOH JI-YOUN SUNG YOUN WHA KIM SUNG-GOO CHANG YONG-KOO PARK

The established prognostic factors associated with prostatic adenocarcinoma are the Gleason score, pathological T staging and serum prostatic-specific antigen (PSA) level. However, these prognostic factors alone are not sufficient for predicting prognostic characteristics, including early stage or advanced prostate cancer, presence of metastasis or disease-related mortality. The purpose of the ...

2015
Dorota Koziel Stanislaw Gluszek Artur Kowalik Malgorzata Chlopek Liliana Pieciak

BACKGROUND Explanation of the ultimate causes of acute and chronic pancreatitis is challenging. Hence, it is necessary to seek various etiological factors, including genetic mutations that may be of importance in triggering recurrence and progression of acute to chronic pancreatitis. The aim of this study was to determine the frequency of genetic mutations in patients with acute pancreatitis an...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2017

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