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Article

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

The Journal of clinical investigation - 1 Jun 2008

Colombo Carlo, Porzio Ottavia, Liu Ming, Massa Ornella, Vasta Mario, Salardi Silvana, Beccaria Luciano, Monciotti Carla, Toni Sonia, Pedersen Oluf, Hansen Torben, Federici Luca, Pesavento Roberta, Cadario Francesco, Federici Giorgio, Ghirri Paolo, Arvan Peter, Iafusco Dario, Barbetti Fabrizio

Abstract excerpt

Permanent neonatal diabetes mellitus (PNDM) is a rare disorder usually presenting within 6 months of birth. Although several genes have been linked to this disorder, in almost half the cases documented in Italy, the genetic cause remains unknown. Because the Akita mouse bearing a mutation in the...

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Source

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Identifiers

PMID: 18451997
DOI: 10.1172/JCI33777
PMCID: PMC2350430

Genes

INS
XBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18451997-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.PMID 18451997Read ↗

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Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.Semantic proximity Read ↗

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In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.Semantic proximity Read ↗

Permanent neonatal diabetes-causing insulin mutations have dominant negative effects on beta cell identity.Semantic proximity Read ↗

Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations.Semantic proximity Read ↗

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