Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. (Q37181595)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18978175%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis (English)

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25 December 2019

3

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25 December 2019

author name string

E Kereszturi

series ordinal

1

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25 December 2019

O Király

series ordinal

2

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25 December 2019

language of work or name

English

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publication date

31 October 2008

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25 December 2019

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25 December 2019

volume

58

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25 December 2019

issue

4

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25 December 2019

page(s)

545-549

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

25 December 2019

cites work

1 reference

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Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.

6 September 2017

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

6 September 2017

1 reference

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A SPINK1 gene mutation in a Thai patient with fibrocalculous pancreatic diabetes.

6 September 2017

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Exon junction complexes mediate the enhancing effect of splicing on mRNA expression

6 September 2017

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SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary report

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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Analysis of the stimulatory effect of splicing on mRNA production and utilization in mammalian cells

6 September 2017

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

14 September 2017

1 reference

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Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677899

SPINK1, ADH2, and ALDH2 gene variants and alcoholic chronic pancreatitis in Japan

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677899

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

3 September 2018

1 reference

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

3 September 2018

1 reference

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SPINK1 gene mutations and pancreatitis in Japan.

3 September 2018

1 reference

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677899

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677899

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677899

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677899

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677899

Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients

4 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis

1 reference

12 December 2020

N34S Mutation in the SPINK1 Gene Is Not Associated With Alternative Splicing

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.2008.164947

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18978175%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18978175%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference