Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis (Q37395316)

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scientific article published on May 2007

Language	Label	Description	Also known as
English	Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis	scientific article published on May 2007

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scholarly article

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25 December 2019

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

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25 December 2019

Miklós Sahin-Tóth

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25 December 2019

3

object named as

Heiko Witt

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25 December 2019

author name string

Orsolya Király

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25 December 2019

Arnaud Boulling

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25 December 2019

Cédric Le Maréchal

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25 December 2019

Jian-Min Chen

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25 December 2019

Jonas Rosendahl

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25 December 2019

Cinzia Battaggia

7

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25 December 2019

Thomas Wartmann

8

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25 December 2019

Claude Férec

10

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25 December 2019

publication date

1 May 2007

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25 December 2019

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25 December 2019

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25 December 2019

469-476

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25 December 2019

5

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25 December 2019

Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

Activation of pancreatic zymogens. Normal activation, premature intrapancreatic activation, protective mechanisms against inappropriate activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

Complexes of polyoma virus medium T antigen and cellular proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

The signal peptide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

6 September 2017

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

28 September 2017

A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

26 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

RT-PCR for the pseudogene-free amplification of the glyceraldehyde-3-phosphate dehydrogenase gene (gapd)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

Standardizing mutation nomenclature: why bother?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765331

2 September 2018

Hereditary pancreatitis caused by triplication of the trypsinogen locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SPINK1 mutations in chronic pancreatitis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.20471

1 reference

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25 December 2019

1 reference

Europe PubMed Central

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25 December 2019

1 reference

Europe PubMed Central

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25 December 2019

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