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Article

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

Nature genetics - 1 Jan 2006

Raeder Helge, Johansson Stefan, Holm Pål I, Haldorsen Ingfrid S, Mas Eric, Sbarra Véronique, Nermoen Ingrid, Eide Stig A, Grevle Louise, Bjørkhaug Lise, Sagen Jørn V, Aksnes Lage, Søvik Oddmund, Lombardo Dominique, Molven Anders, Njølstad Pål Rasmus

Abstract excerpt

Dysfunction of the exocrine pancreas is observed in diabetes, but links between concurrent exocrine and endocrine pancreatic disease and contributing genetic factors are poorly characterized. We studied two families with diabetes and exocrine pancreatic dysfunction by genetic, physiological and in vitro functional studies. A genome-wide screen in Family 1 linked diabetes to chromosome 9q34 (maximal lod score...

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Identifiers

PMID: 16369531
DOI: 10.1038/ng1708

Genes

CEL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.PMID 16369531Read ↗

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

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.Semantic proximity Read ↗

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.Semantic proximity Read ↗

Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.Semantic proximity Read ↗

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase ( <i>CEL</i> ) gene determines pathogenicitySemantic proximity Read ↗

Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.Semantic proximity Read ↗

Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes.Semantic proximity Read ↗

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

Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase.Semantic proximity Read ↗

Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations.Semantic proximity Read ↗

Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young).Semantic proximity Read ↗

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.Semantic proximity Read ↗

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