Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl (Q37363563)

19 August 2017

Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl (English)

1 reference

19 August 2017

1 reference

Niels Teich

1

1 reference

19 August 2017

Zsófia Nemoda

2

1 reference

19 August 2017

Henrik Köhler

3

1 reference

19 August 2017

Wolfram Heinritz

4

1 reference

19 August 2017

Joachim Mössner

5

1 reference

19 August 2017

Volker Keim

6

1 reference

19 August 2017

Miklós Sahin-Tóth

7

1 reference

19 August 2017

1 April 2005

1 reference

19 August 2017

1 reference

19 August 2017

25

1 reference

19 August 2017

4

1 reference

19 August 2017

343-347

1 reference

Human anionic trypsinogen: properties of autocatalytic activation and degradation and implications in pancreatic diseases

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Mutations in SBDS are associated with Shwachman-Diamond syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Comparative analyses of immunoglobulin genes: surprises and portents

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Gene conversion-like missense mutations in the human cationic trypsinogen gene and insights into the molecular evolution of the human trypsinogen family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

The complete 685-kilobase DNA sequence of the human beta T cell receptor locus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Gene conversion is a likely cause of mutation in PKD1.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Evolution of trypsinogen activation peptides

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

Comparative in vitro studies on native and recombinant human cationic trypsins. Cathepsin B is a possible pathological activator of trypsinogen in pancreatitis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752332

A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15776435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15776435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15776435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.20148

1 reference

19 August 2017

1 reference

19 August 2017

1 reference