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

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Diabetes - 1 Jun 2007

Vaxillaire Martine, Dechaume Aurélie, Busiah Kanetee, Cavé Hélène, Pereira Sabrina, Scharfmann Raphael, de Nanclares Guiomar Perez, Castano Luis, Froguel Philippe, Polak Michel

Abstract excerpt

Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1 (SUR1) regulatory subunit of the pancreatic islet ATP-sensitive K(+) channel (K(ATP) channel) cause both permanent and transient neonatal diabetes. Recently, we have described the novel mechanism where basal Mg-nucleo...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Diabetes Mellitus, Type 1
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Recurrence

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 17389331
DOI: 10.2337/db06-1540

Genes

ABCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17389331-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.PMID 17389331Read ↗

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.Semantic proximity Read ↗

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.Semantic proximity Read ↗

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.Semantic proximity Read ↗

Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family.Semantic proximity Read ↗

Update in neonatal diabetes.Semantic proximity Read ↗

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.Semantic proximity Read ↗

Relapsing diabetes can result from moderately activating mutations in KCNJ11.Semantic proximity Read ↗

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.Semantic proximity Read ↗

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.Semantic proximity Read ↗

[Neonatal diabetes mellitus].Semantic proximity Read ↗

Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.Semantic proximity Read ↗

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.Semantic proximity Read ↗

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