TBX5

A gene on chromosome 12q24.1 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development; TBX5 plays a role in cardiac development and specification of limb identity.

Molecular pathology
TBX5 mutations are associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limb.

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References in periodicals archive ?

Holt--Oram syndrome is a rare autosomal dominant condition resulting from a gene mutation on 12q24.1 (TBX5) and causes anomalies in bony segment of the upper limbs and the cardiovascular system (1).

Possible Holt-Oram Syndrome: Missed Prenatal Diagnosis and Sub-Optimal Management in a Poor-Resourced Hospital

Dort ailede ise iliskili genlerdeki (SF3B4, SALL4, TBX5, FANCA) mutasyonlar calisma oncesinde molekuler analizlerle belirlenmisti.

RADIYAL ISIN DEFEKTLERININ KLINIK SINIFLANDIRMASI VE ETYOPATOGENEZININ ARASTIRILMASI/CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS

Briefly, Hand1 null (at e7.5-9.5) and Tbx5 null (at e9.5-10.5) mice are characterized by arrested cardiac development.

Cardiac Development and Transcription Factors: Insulin Signalling, Insulin Resistance, and Intrauterine Nutritional Programming of Cardiovascular Disease

Direct reprogramming of fibroblasts into cardiomyocyte-like cells was first reported in 2010 using viral overexpression of three important cardiac developmental transcription factors (TFs), Gata4, Mef2c, and Tbx5 (GMT) in mouse cardiac and tail-tip fibroblasts [11].

Direct Cardiac Reprogramming: Progress and Promise

Holt-Oram syndrome was previously excluded due to the lack of cardiac malformations and, more definitively, the lack of mutations within the TBX5 gene.

Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review

We also included potential upstream genes such as Csf1r [30], Gata4, Nkx2.5, and Tbx5 [31].

Sex Differences in Correlation with Gene Expression Levels between Ifi200 Family Genes and Four Sets of Immune Disease-Relevant Genes

Rosengart, a team of researchers showed that administration of a cocktail made of transcription factors Gata4, Mef2c and Tbx5 (GMT) resulted in less scar tissue, or fibrosis, and up to a 50 percent increase in cardiac function in small animal models of the disease.

A protein cocktail that helps mend a broken heart

About 70% of the patients who meet the clinical diagnostic criteria have a mutation in TBX5 genes, which is associated with cardiac and skeletal development.

Holt-Oram syndrome: A rare variant

The protein NCBI IDs, NP_542377.1 (Tbx1), NP_005985.3 (Tbx2), NP_005987.3 (Tbx3), NP.001308049.1 (Tbx4), and NP.000183.2 (Tbx5).

Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome

T-box transcription factor 5 (TBX5) expression is high in RASFs and both H3K4me3 and histone acetylation are increased in the TBX5 promoter in RASFs [85].

The Histone Modification Code in the Pathogenesis of Autoimmune Diseases

Mutations in the gene TBX5 have been shown to cause both rare and more prevalent forms of congenital heart disease, yet the underlying mechanisms have remained unclear.