Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism (Q24650338)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191323%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism (English)

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20 January 2020

5

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20 January 2020

Markus M Lerch

series ordinal

6

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20 January 2020

Miklós Sahin-Tóth

series ordinal

7

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20 January 2020

1

Eva Kereszturi

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20 January 2020

2

Richárd Szmola

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20 January 2020

3

Zoltán Kukor

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20 January 2020

author name string

Peter Simon

series ordinal

4

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20 January 2020

language of work or name

English

0 references

publication date

1 April 2009

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20 January 2020

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20 January 2020

volume

30

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20 January 2020

issue

4

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20 January 2020

page(s)

575-582

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

20 January 2020

cites work

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

7 April 2017

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Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis

7 April 2017

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Biochemical models of hereditary pancreatitis

7 April 2017

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

7 April 2017

1 reference

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Signal integration in the endoplasmic reticulum unfolded protein response

7 April 2017

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Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series

7 April 2017

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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

7 April 2017

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Clinical and genetic characteristics of hereditary pancreatitis in Europe

7 April 2017

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

7 April 2017

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

7 April 2017

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

7 April 2017

1 reference

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Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

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Secretagogues differentially activate endoplasmic reticulum stress responses in pancreatic acinar cells

28 September 2017

1 reference

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

28 September 2017

1 reference

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Endoplasmic reticulum stress signaling in disease

28 September 2017

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Quantitative measurement of spliced XBP1 mRNA as an indicator of endoplasmic reticulum stress

28 September 2017

1 reference

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

28 September 2017

1 reference

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Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen

28 September 2017

1 reference

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A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene

28 September 2017

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Complexes of polyoma virus medium T antigen and cellular proteins

28 September 2017

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

28 September 2017

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

30 May 2018

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

30 May 2018

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

21 January 2018

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SPINK1 variants in young-onset pancreatic cancer

21 January 2018

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Early activation of endoplasmic reticulum stress is associated with arginine-induced acute pancreatitis.

21 January 2018

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Affinity purification of recombinant trypsinogen using immobilized ecotin.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20853

Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis

21 January 2018

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R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis

21 January 2018

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The course of genetically determined chronic pancreatitis.

21 January 2018

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Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants

28 November 2018

1 reference

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Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1)

28 November 2018

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12 December 2020

Hereditary pancreatitis in North America: the Pittsburgh-Midwest Multi-Center Pancreatic Study Group Study

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Hereditary pancreatitis caused by triplication of the trypsinogen locus

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12 December 2020

Identifiers

DOI

10.1002/HUMU.20853

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191323%20AND%20SRC:MED&resulttype=core&format=json

release_5tbfucf4gjf5tng24ylhtf6zha

20 January 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/5tbfucf4gjf5tng24ylhtf6zha

24 November 2022

mapped directly with Wikidata item

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2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191323%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PubMed publication ID

19191323

2 references