(Q37660241)

21 August 2017

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis (English)

1 reference

21 August 2017

13

Robert Grützmann

0 references

Jian-Min Chen

Jian-Min Chen

5

0 references

Paweł Sztromwasser

Paweł Sztromwasser

20

0 references

Bente B Johansson

Bente B Johansson

6

0 references

Karianne Fjeld

Karianne Fjeld

1

0 references

Frank U. Weiss

Frank Ulrich Weiss

2

0 references

Miriam Cnop

Miriam Cnop

12

0 references

Markus M Lerch

Markus M Lerch

26

0 references

Stefan Johansson

Stefan Johansson

28

0 references

Pål R Njølstad

27

Pål R Njølstad

1 reference

21 August 2017

29

Anders Molven

1 reference

21 August 2017

14

Julia Mayerle

1 reference

21 August 2017

8

Claudia Ruffert

1 reference

21 August 2017

16

Monika Ringdal

1 reference

21 August 2017

23

Erling Tjora

1 reference

21 August 2017

21

Janniche Torsvik

1 reference

21 August 2017

11

Peter Bugert

1 reference

21 August 2017

4

Jonas Rosendahl

1 reference

21 August 2017

10

Solrun J Steine

1 reference

21 August 2017

25

Heiko Witt

1 reference

21 August 2017

Denise Lasher

3

1 reference

21 August 2017

Holger Kirsten

7

1 reference

21 August 2017

Emmanuelle Masson

9

1 reference

21 August 2017

Joachim Mössner

15

1 reference

21 August 2017

Hans-Ulrich Schulz

17

1 reference

21 August 2017

Matthias Sendler

18

1 reference

21 August 2017

Peter Simon

19

1 reference

21 August 2017

Markus Scholz

22

1 reference

21 August 2017

Claude Férec

24

1 reference

21 August 2017

language of work or name

English

0 references

publication date

16 March 2015

1 reference

21 August 2017

1 reference

21 August 2017

47

1 reference

21 August 2017

5

1 reference

21 August 2017

518-522

1 reference

Carboxyl-ester lipase maturity-onset diabetes of the young is associated with development of pancreatic cysts and upregulated MAPK signaling in secretin-stimulated duodenal fluid

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Autophagy and pancreatitis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Integrated detection and population-genetic analysis of SNPs and copy number variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Bile salt-dependent lipase: its pathophysiological implications

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

cDNA cloning of human-milk bile-salt-stimulated lipase and evidence for its identity to pancreatic carboxylic ester hydrolase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Characterization of a VNTR polymorphism in the coding region of the CEL 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=5321495

Human bile salt-stimulated lipase has a high frequency of size variation due to a hypervariable region in exon 11.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Recombinant human milk bile salt-stimulated lipase. Catalytic activity is retained in the absence of glycosylation and the unique proline-rich repeats

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Comparison of estimators for measures of linkage disequilibrium.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Use of polarized PC12 cells to monitor protein localization in the early biosynthetic pathway

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Structure and organization of the human carboxyl ester lipase locus

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321495

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25774637

12 December 2020

inferred from PubMed ID database lookup

Proline-rich domain and glycosylation are not essential for the enzymic activity of bile salt-activated lipase. Kinetic studies of T-BAL, a truncated form of the enzyme, expressed in Escherichia coli

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25774637

12 December 2020

inferred from PubMed ID database lookup

Hereditary pancreatitis caused by triplication of the trypsinogen locus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25774637

12 December 2020

inferred from PubMed ID database lookup

Chelation of lysosomal iron protects dopaminergic SH-SY5Y neuroblastoma cells from hydrogen peroxide toxicity by precluding autophagy and Akt dephosphorylation

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3249

7 January 2021

inferred from DOI database lookup

Proteome of the porosome complex in human airway epithelia: interaction with the cystic fibrosis transmembrane conductance regulator (CFTR).

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3249

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.3249

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

25774637

1 reference