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

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome

29 Apr 2021

Abstract excerpt

Objective Defects in the insulin receptor (INSR) gene cause various severe insulin resistance conditions, including Donohue syndrome (DS), Rabson-Mendenhall syndrome (RMS) and type A insulin resistance (type A-IR). This study aimed to investigate the clinical characterization and molecular defects in three Chinese children with INSR-related insulin resistance syndrome. Methods We reviewed the clinical data of...

Read the complete abstract on PubMed

Topics

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

Share to Cancer-related Molecular Pathways
Share to Cell death mechanisms and regulation
Share to RNA regulation and disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33995269
DOI: 10.3389/fendo.2021.606964

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance SyndromePMID 33995269Read ↗

INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.Semantic proximity Read ↗

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.Semantic proximity Read ↗

Identification of a Novel Mutation in Patients with Type A Insulin Resistance Syndrome.Semantic proximity Read ↗

Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR GeneSemantic proximity Read ↗

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall SyndromeSemantic proximity Read ↗

Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome.Semantic proximity Read ↗

A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a De Novo INSR c.3328G>C mutation.Semantic proximity Read ↗

Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.Semantic proximity Read ↗

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.Semantic proximity Read ↗

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene MutationSemantic proximity Read ↗

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.Semantic proximity Read ↗

Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.Semantic proximity Read ↗

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