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

A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.

Acta diabetologica - 1 Feb 2024

Kavitha Babu, Srikanth Kandi, Singh Deepshikha, Gopi Sundaramoorthy, Mohan Viswanathan, Chandra Nagasuma, Radha Venkatesan

Abstract excerpt

AIM: To identify the genetic etiology of neonatal diabetes in an infant and to elucidate the molecular mechanism of the identified mutation underlying the pathogenesis. METHODS: Genetic analysis was carried out by sequencing of known etiological genes associated with NDM. Molecular characterization was performed by constructing a identified mutation in NKX2-2 gene and functional aspects was tested using...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes Mellitus
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Infant

Share to Infant, Newborn

Share to Infant, Newborn, Diseases

Share to Mutation

Share to Transcription Factors

Source

Identifiers

PMID: 37821536
DOI: 10.1007/s00592-023-02192-y

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

A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.PMID 37821536Read ↗

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.Semantic proximity Read ↗

Functional characterization of two novel NKX2-1 frameshift variants that cause pulmonary surfactant dysfunction.Semantic proximity Read ↗

Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH).Semantic proximity Read ↗

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.Semantic proximity Read ↗

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.Semantic proximity Read ↗

An update on genetic variants of the NKX2-5.Semantic proximity Read ↗

Structure of the human Nkx2.1 geneSemantic proximity Read ↗

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.Semantic proximity Read ↗

Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous familySemantic proximity Read ↗

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.Semantic proximity Read ↗

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing LossSemantic proximity Read ↗

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.Semantic proximity Read ↗

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