Associated Papers
Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.
Dri J et al.
Archivos Argentinos De Pediatria, 2025
Nucleotide Excision Repair: Insights into Canonical and Emerging Functions of the Transcription/DNA Repair Factor TFIIH.
Zachayus A et al.
Genes, 2025
The role of Transcription Factor IIH complex in nucleotide excision repair.
Hoag A et al.
Environmental and Molecular Mutagenesis, 2024
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
Sorrentino U et al.
Clinical Genetics, 2023
Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.
Yu J et al.
Nature Communications, 2023
The cryo-electron microscopy structure of human transcription factor IIH.
Greber BJ et al.
Nature, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
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
Interacting partners of the Tfb2 subunit from yeast TFIIH.
Kainov DE et al.
Dna Repair, 2010
Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
Hashimoto S et al.
Human Molecular Genetics, 2009
Structural basis for group A trichothiodystrophy.
Kainov DE et al.
Nature Structural & Molecular Biology, 2008
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH.
Compe E et al.
Nature Neuroscience, 2007
Genome bioinformatic analysis of nonsynonymous SNPs.
Burke DF et al.
Bmc Bioinformatics, 2007
Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy.
Vitorino M et al.
Journal of Molecular Biology, 2007
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