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Article

The mechanism by which TATA-box polymorphisms associated with human hereditary diseases influence interactions with the TATA-binding protein.

Human mutation - 1 May 2014

Drachkova Irina, Savinkova Ludmila, Arshinova Tatyana, Ponomarenko Mikhail, Peltek Sergey, Kolchanov Nikolay

Abstract excerpt

SNPs in ТАТА boxes are the cause of monogenic diseases, contribute to a large number of complex diseases, and have implications for human sensitivity to external and internal environmental signals. The aim of this work was to explore the kinetic characteristics of the formation of human ТВР complexes with ТАТА boxes, in which the SNPs are associated with β-thalassemias of diverse severity, immunosuppression,...

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Topics

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Share to Genetic Diseases, Inborn
Share to Kinetics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Promoter Regions, Genetic

Share to TATA Box

Share to TATA-Box Binding Protein

Share to Transcription Factors

Share to Triose-Phosphate Isomerase

Source

Identifiers

PMID: 24616209
DOI: 10.1002/humu.22535

Genes

TBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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