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

Autosomal dominant diabetes associated with a novel ZYG11A mutation resulting in cell cycle arrest in beta-cells.

Molecular and cellular endocrinology - 15 Feb 2021

Charoensuk Chutima, Thamtarana Prapaporn Jungtrakoon, Chanprasert Chutima, Tangjittipokin Watip, Shirakawa Jun, Togashi Yu, Orime Kazuki, Songprakhon Pucharee, Chaichana Chartchai, Abubakar Zuroida, Ouying Paweena, Sujjitjoon Jatuporn, Doria Alessandro, Plengvidhya Nattachet, Yenchitsomanus Pa-Thai

Abstract excerpt

Diabetes is a genetically heterogeneous disease, for which we are aiming to identify causative genes. Here, we report a missense mutation (c.T1424C:p.L475P) in ZYG11A identified by exome sequencing as segregating with hyperglycemia in a Thai family with autosomal dominant diabetes. ZYG11A functions as a target recruitment subunit of an E3 ubiquitin ligase complex that plays an important role in the regulation of...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Checkpoints
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Proliferation

Share to Chromosome Segregation

Share to Diabetes Mellitus

Share to Genes, Dominant

Share to Insulin-Secreting Cells

Source

Identifiers

PMID: 33321115
DOI: 10.1016/j.mce.2020.111126

Provenance

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant diabetes associated with a novel ZYG11A mutation resulting in cell cycle arrest in beta-cells.PMID 33321115Read ↗

Generation of an induced pluripotent stem cell line (MUSIi014-A) from an affected member of a family with autosomal dominant diabetes carrying p.L475P mutation in ZYG11A gene associated with a cell cycle arrest in beta-cell.Semantic proximity Read ↗

Novel mutations in TRIP13 lead to female infertility with oocyte maturation arrest.Semantic proximity Read ↗

Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line (MUSIi015-A) from a diabetic patient carrying mutations in ZYG11A (p.L475P) and GATA6 (p.E51K).Semantic proximity Read ↗

PAX4 loss of function alters human endocrine cell development and influences diabetes riskSemantic proximity Read ↗

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.Semantic proximity Read ↗

Heterozygous PAX6 mutations may lead to hyper-proinsulinaemia and glucose intolerance: A case-control study in families with congenital aniridia.Semantic proximity Read ↗

Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial InsulinomatosisSemantic proximity Read ↗

PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell developmentSemantic proximity Read ↗

PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance.Semantic proximity Read ↗

Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.Semantic proximity Read ↗

Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus.Semantic proximity Read ↗

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