Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding.

Human mutation - 1 Nov 2020

Cassidy Brett M, Zino Sammy, Fjeld Karianne, Molven Anders, Lowe Mark E, Xiao Xunjun

Abstract excerpt

Genetic variants contribute to the risk of chronic pancreatitis (CP) in adults and children. The risk variant CEL-HYB1, a recombinant hybrid allele of CEL and its neighboring pseudogene (CELP), encodes a pathogenic variant of the pancreatic digestive enzyme carboxyl ester lipase (CEL). We previously identified combinations of two non-synonymous SNPs, c.1463T>C (p. Ile488Thr) and c.1643C>T (p. Thr548Ile), in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Gain of Function Mutation
Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Lipase

Share to Mutation, Missense

Share to Pancreatitis, Chronic

Share to Protein Folding

Share to Pseudogenes

Source

Open in PubMed Open full text

Identifiers

PMID: 32906201
DOI: 10.1002/humu.24105
PMCID: PMC7663422

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding.PMID 32906201Read ↗

Carboxyl ester lipase hybrid 1 (CEL-HYB1) haplotypes confer varying risk for chronic pancreatitis.Semantic proximity Read ↗

The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice.Semantic proximity Read ↗

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.Semantic proximity Read ↗

The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice.Semantic proximity Read ↗

A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.Semantic proximity Read ↗

The role of the carboxyl ester lipase (CEL) gene in pancreatic disease.Semantic proximity Read ↗

Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases.Semantic proximity Read ↗

Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort.Semantic proximity Read ↗

Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis.Semantic proximity Read ↗

Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitisSemantic proximity Read ↗

Chronic pancreatitis: an update on genetic risk factors.Semantic proximity Read ↗

Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.