(Q34732835)

4 August 2017

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis (English)

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4 August 2017

Emmanuelle Masson

1

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4 August 2017

Jian-Min Chen

2

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4 August 2017

Virginie Scotet

3

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4 August 2017

Cédric Le Maréchal

4

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4 August 2017

Claude Férec

5

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4 August 2017

3 January 2008

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4 August 2017

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4 August 2017

123

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4 August 2017

1

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4 August 2017

83-91

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https://scigraph.springernature.com/pub.10.1007/s00439-007-0459-3

4 August 2017

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cites work

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis

1 reference

12 December 2020

Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q.

1 reference

12 December 2020

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

1 reference

12 December 2020

"Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis

1 reference

12 December 2020

Chymotrypsin C (caldecrin) promotes degradation of human cationic trypsin: identity with Rinderknecht's enzyme Y

1 reference

12 December 2020

A gene for hereditary pancreatitis maps to chromosome 7q35

1 reference

12 December 2020

The A16V signal peptide cleavage site mutation in the cationic trypsinogen gene and chronic pancreatitis

1 reference

12 December 2020

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants

1 reference

12 December 2020

Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis

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12 December 2020

Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis

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12 December 2020

The hereditary pancreatitis gene maps to long arm of chromosome 7

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12 December 2020

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

1 reference

12 December 2020

A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis

1 reference

12 December 2020

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

1 reference

12 December 2020

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

1 reference

12 December 2020

Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations

1 reference

12 December 2020

Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen.

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12 December 2020

Crystal structure of E47-NeuroD1/beta2 bHLH domain-DNA complex: heterodimer selectivity and DNA recognition

1 reference

12 December 2020

Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen

1 reference

12 December 2020

Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients

1 reference

12 December 2020

Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis

1 reference

12 December 2020

Molecular basis of hereditary pancreatitis

1 reference

12 December 2020

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis

1 reference

12 December 2020

Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis

1 reference

12 December 2020

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview

1 reference

12 December 2020

Evolution of trypsinogen activation peptides

1 reference

12 December 2020

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

1 reference

12 December 2020

Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis

1 reference

12 December 2020

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

1 reference

12 December 2020

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

1 reference

12 December 2020

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

12 December 2020

SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh

1 reference

12 December 2020

Hereditary pancreatitis caused by triplication of the trypsinogen locus

1 reference

12 December 2020

A possible zymogen self-destruct mechanism preventing pancreatic autodigestion

1 reference

12 December 2020

10.1007/S00439-007-0459-3

Identifiers

DOI

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Dimensions Publication ID

4 August 2017

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