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

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.

Orphanet journal of rare diseases - 30 Jun 2021

Mendoza-Caamal Elvia C, Barajas-Olmos Francisco, Mirzaeicheshmeh Elaheh, Ilizaliturri-Flores Ian, Aguilar-Salinas Carlos A, Gómez-Velasco Donaji V, Cicerón-Arellano Isabel, Reséndiz-Rodríguez Adriana, Martínez-Hernández Angélica, Contreras-Cubas Cecilia, Islas-Andrade Sergio, Zerrweck Carlos, García-Ortiz Humberto, Orozco Lorena

Abstract excerpt

BACKGROUND: We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample of 509 unrelated adults with type 2 diabetes and 459 controls, all belonging to the DMS1 SIGMA-cohort (ExAC). We performed in silico analysis on missense variants using Variant Effect...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes Mellitus, Type 2
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 34193236
DOI: 10.1186/s13023-021-01924-z
PMCID: PMC8247206

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.PMID 34193236Read ↗

Two Novel Variants in DYRK1B causative of AOMS3: Expanding the Clinical SpectrumSemantic proximity Read ↗

A form of the metabolic syndrome associated with mutations in DYRK1B.Semantic proximity Read ↗

Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes.Semantic proximity Read ↗

DYRK1B variant linked to autosomal dominant metabolic syndrome.Semantic proximity Read ↗

Identification and functional validation of rare coding variants in genes linked to monogenic obesity.Semantic proximity Read ↗

Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.Semantic proximity Read ↗

Analysis of DYRK1B, PPARG, and CEBPB Expression Patterns in Adipose-Derived Stem Cells from Patients carrying DYRK1B R102C and Healthy Individuals During AdipogenesisSemantic proximity Read ↗

Study The Expression of DYRK1B Gene And Its Association With Metabolic Syndrome Among The EgyptiansSemantic proximity Read ↗

In silico analysis of missense SNPs in APPL1 gene: implications on APPL1-AKT2 complex and its relation to MODY 14.Semantic proximity Read ↗

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes.Semantic proximity Read ↗

Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity.Semantic proximity Read ↗

Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1Semantic proximity Read ↗

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