Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › Missense_ISAs
Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.
Dri J et al.
Archivos Argentinos De Pediatria, 2025
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
TTDA: big impact of a small protein.
Theil AF et al.
Experimental Cell Research, 2014
Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
Moriwaki S et al.
The Journal of Dermatology, 2014
In vivo interactions of TTDA mutant proteins within TFIIH.
Nonnekens J et al.
Journal of Cell Science, 2013
Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.
Theil AF et al.
Plos Genetics, 2013
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