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Literature DB >> 16849362

[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site.

K Kume, A Masamune, K Kikuta, T Shimosegawa.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 2006 PMID： 16849362 PMCID： PMC1856255 DOI： 10.1136/gut.2006.095752

Source DB: PubMed Journal: Gut ISSN： 0017-5749 Impact factor: 23.059

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10 in total

Review 1. Pre-mRNA splicing and human disease.

Authors: Nuno André Faustino; Thomas A Cooper
Journal: Genes Dev Date: 2003-02-15 Impact factor: 11.361

2. Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis.

Authors: K Kaneko; Y Nagasaki; T Furukawa; H Mizutamari; A Sato; A Masamune; T Shimosegawa; A Horii
Journal: J Hum Genet Date: 2001 Impact factor: 3.172

3. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

Authors: H Witt; W Luck; H C Hennies; M Classen; A Kage; U Lass; O Landt; M Becker
Journal: Nat Genet Date: 2000-06 Impact factor: 38.330

4. Distribution and expression of pancreatic secretory trypsin inhibitor and its possible role in epithelial restitution.

Authors: T Marchbank; R Chinery; A M Hanby; R Poulsom; G Elia; R J Playford
Journal: Am J Pathol Date: 1996-03 Impact factor: 4.307

5. The primary structure of the human pancreatic secretory trypsin inhibitor. Amino acid sequence of the reduced S-aminoethylated protein.

Authors: D C Bartelt; R Shapanka; L J Greene
Journal: Arch Biochem Biophys Date: 1977-02 Impact factor: 4.013

6. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.

Authors: R H Pfützer; M M Barmada; A P Brunskill; R Finch; P S Hart; J Neoptolemos; W F Furey; D C Whitcomb
Journal: Gastroenterology Date: 2000-09 Impact factor: 22.682

7. Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.

Authors: Kiyoshi Kume; Atsushi Masamune; Hiroya Mizutamari; Kenzo Kaneko; Kazuhiro Kikuta; Masahiro Satoh; Kennichi Satoh; Kenji Kimura; Noriaki Suzuki; Yutaka Nagasaki; Akira Horii; Tooru Shimosegawa
Journal: Pancreatology Date: 2005-06-23 Impact factor: 3.996

8. Human Gene Mutation Database (HGMD): 2003 update.

Authors: Peter D Stenson; Edward V Ball; Matthew Mort; Andrew D Phillips; Jacqueline A Shiel; Nick S T Thomas; Shaun Abeysinghe; Michael Krawczak; David N Cooper
Journal: Hum Mutat Date: 2003-06 Impact factor: 4.878

9. Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene.

Authors: A Horii; T Kobayashi; N Tomita; T Yamamoto; S Fukushige; T Murotsu; M Ogawa; T Mori; K Matsubara
Journal: Biochem Biophys Res Commun Date: 1987-12-16 Impact factor: 3.575

10. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.

Authors: C Le Maréchal; J M Chen; C Le Gall; G Plessis; J Chipponi; N A Chuzhanova; O Raguénès; C Férec
Journal: Hum Mutat Date: 2004-02 Impact factor: 4.878

10 in total

20 in total

Review 1. Chymotrypsin C mutations in chronic pancreatitis.

Authors: Jiayi Zhou; Miklós Sahin-Tóth
Journal: J Gastroenterol Hepatol Date: 2011-08 Impact factor: 4.029

2. Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

Authors: Eriko Nakano; Andrea Geisz; Atsushi Masamune; Tetsuya Niihori; Shin Hamada; Kiyoshi Kume; Yoichi Kakuta; Yoko Aoki; Yoichi Matsubara; Karolin Ebert; Maren Ludwig; Markus Braun; David A Groneberg; Tooru Shimosegawa; Miklós Sahin-Tóth; Heiko Witt
Journal: Am J Physiol Gastrointest Liver Physiol Date: 2015-08-27 Impact factor: 4.052

3. Functional significance of SPINK1 promoter variants in chronic pancreatitis.

Authors: Monique H M Derikx; Andrea Geisz; Éva Kereszturi; Miklós Sahin-Tóth
Journal: Am J Physiol Gastrointest Liver Physiol Date: 2015-03-19 Impact factor: 4.052

4. Do genetic variants in the SPINK1 gene affect the level of serum PSTI?

Authors: Kiyoshi Kume; Atsushi Masamune; Hiroyuki Ariga; Shintaro Hayashi; Tetsuya Takikawa; Shin Miura; Noriaki Suzuki; Kazuhiro Kikuta; Shin Hamada; Morihisa Hirota; Atsushi Kanno; Tooru Shimosegawa
Journal: J Gastroenterol Date: 2012-04-20 Impact factor: 7.527

5. Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis.

Authors: Atsushi Masamune; Kiyoshi Kume; Tooru Shimosegawa
Journal: J Gastroenterol Date: 2007-01 Impact factor: 7.527

6. Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report.

Authors: Katarzyna Zdanowicz; Miroslawa Uscinowicz; Magdalena Rakowska; Katarzyna Wertheim-Tysarowska; Agnieszka Magdalena Rygiel; Grzegorz Oracz; Dariusz Marek Lebensztejn
Journal: J Pediatr Genet Date: 2020-10-05