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

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

PloS one - 1 Jan 2024

Almakhari Maitha, Chen Yan, Kong Amanda Shen-Yee, Moradigaravand Danesh, Lai Kok-Song, Lim Swee-Hua Erin, Loh Jiun-Yan, Maran Sathiya

Abstract excerpt

The TBX1 gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations. In this study, we performed in-silico analysis to identify potentially deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) within the TBX1 gene and evaluate their functional and structural impact on 22q11.2DS. A comprehensive...

Read the complete abstract on PubMed

Topics

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

Share to Computer Simulation
Share to DiGeorge Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TBX1 gene

Share to Genetic Predisposition to Disease

Share to Polymorphism, Single Nucleotide

Share to Protein Stability

Share to T-Box Domain Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 38905172
DOI: 10.1371/journal.pone.0298092
PMCID: PMC11192383

Genes

TBX1

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

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.PMID 38905172Read ↗

Identification of deleterious single nucleotide polymorphism (SNP)s on the human <i>TBX5</i> gene & prediction of their structural & functional consequences: An <i>in silico</i> approachSemantic proximity Read ↗

Analysis of damaging non-synonymous SNPs in GPx1 gene associated with the progression of diverse cancers through a comprehensive in silico approach.Semantic proximity Read ↗

Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.Semantic proximity Read ↗

Structural and functional impact of non- synonymous SNPs in the CST complex subunit TEN1: Structural genomics approachSemantic proximity Read ↗

In silico analysis of deleterious SNPs of human MTUS1 gene and their impacts on subsequent protein structure and function.Semantic proximity Read ↗

Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinitySemantic proximity Read ↗

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.Semantic proximity Read ↗

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardationSemantic proximity Read ↗

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.Semantic proximity Read ↗

In Silico Analysis: HLA-DRB1 Gene's Variants and Their Clinical Impact.Semantic proximity Read ↗

Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.Semantic proximity Read ↗

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Semantic proximity Read ↗

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