Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. (Q51796788)

12 April 2018

title

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. (English)

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12 April 2018

author name string

Arnaud Boulling

1

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12 April 2018

Cédric Le Maréchal

2

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12 April 2018

Pascal Trouvé

3

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12 April 2018

Odile Raguénès

4

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12 April 2018

Jian-Min Chen

5

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12 April 2018

Claude Férec

6

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12 April 2018

publication date

13 June 2007

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12 April 2018

European Journal of Human Genetics

published in

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12 April 2018

volume

15

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12 April 2018

issue

9

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12 April 2018

page(s)

936-942

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12 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201873

exact match

0 references

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

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

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Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

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Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen

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Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).

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SPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations

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Identifiers

DOI

10.1038/SJ.EJHG.5201873

1 reference

12 April 2018

PubMed ID

17568390

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12 April 2018