Literature DB >> 11343313

High frequency of the N34S mutation in the SPINK1 gene in chronic pancreatitis detected by a new PCR-RFLP assay.

H Plendl, R Siebert, D Steinemann, W Grote.   

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Year:  2001        PMID： 11343313     DOI： 10.1002/ajmg.1287

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  8 in total

1.  Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

Authors:  Orsolya Király; Arnaud Boulling; Heiko Witt; Cédric Le Maréchal; Jian-Min Chen; Jonas Rosendahl; Cinzia Battaggia; Thomas Wartmann; Miklós Sahin-Tóth; Claude Férec
Journal:  Hum Mutat       Date:  2007-05       Impact factor: 4.878

Review 2.  Genetic issues in pediatric pancreatitis.

Authors:  Leena Kandula; David C Whitcomb; Mark E Lowe
Journal:  Curr Gastroenterol Rep       Date:  2006-06

3.  Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States.

Authors:  Alexander Schneider; Roland H Pfützer; M Michael Barmada; Adam Slivka; John Martin; David C Whitcomb
Journal:  Dig Dis Sci       Date:  2003-06       Impact factor: 3.199

4.  SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.

Authors:  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
Journal:  Am J Hum Genet       Date:  2002-08-16       Impact factor: 11.025

5.  Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.

Authors:  Orsolya Király; Thomas Wartmann; Miklós Sahin-Tóth
Journal:  Gut       Date:  2007-05-24       Impact factor: 23.059

6.  Molecular dynamics simulations reveal structural instability of human trypsin inhibitor upon D50E and Y54H mutations.

Authors:  Wanwimon Mokmak; Surasak Chunsrivirot; Anunchai Assawamakin; Kiattawee Choowongkomon; Sissades Tongsima
Journal:  J Mol Model       Date:  2012-09-07       Impact factor: 1.810

7.  Chronic pancreatitis: A new pathophysiology.

Authors:  Shweta Singh; Ravindra Kumar; Gourdas Choudhuri; Sarita Agarwal
Journal:  Indian J Hum Genet       Date:  2012-09

8.  Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

Authors:  Elie Aoun; Chung-Chou H Chang; Julia B Greer; Georgios I Papachristou; M Michael Barmada; David C Whitcomb
Journal:  PLoS One       Date:  2008-04-16       Impact factor: 3.240
  8 in total

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