Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
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Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cellsDisruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethalityCloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutantFirst reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failureFunctional TFIIH is required for UV-induced translocation of CSA to the nuclear matrixNucleotide excision repair in eukaryotesDiseases associated with defective responses to DNA damageDifferentiation driven changes in the dynamic organization of Basal transcription initiationTfb5 interacts with Tfb2 and facilitates nucleotide excision repair in yeastIdentification of TFB5, a new component of general transcription and DNA repair factor IIH.A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group APersistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patientsBoth XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.Restoration of nucleotide excision repair in a helicase-deficient XPD mutant from intragenic suppression by a trichothiodystrophy mutationThe 14th Datta Lecture. TFIIH: from transcription to clinic.Pollitt syndrome patients carry mutation in TTDN1.TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.Transcription-coupled repair of oxidative DNA damage in human cells: mechanisms and consequences.Tfb5 is partially dispensable for Rad26 mediated transcription coupled nucleotide excision repair in yeast.Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG.Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.The role of DNA damage repair in aging of adult stem cellsImmunodetection of DNA repair endonuclease ERCC1-XPF in human tissue.Trypanosoma brucei harbours a divergent XPB helicase paralogue that is specialized in nucleotide excision repair and conserved among kinetoplastid organisms.Different dynamics in nuclear entry of subunits of the repair/transcription factor TFIIHRejuvenation of aged hematopoietic stem cells.Recruitment of the nucleotide excision repair endonuclease XPG to sites of UV-induced dna damage depends on functional TFIIH.Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.TFIIH controls developmentally-regulated cell cycle progression as a holocomplex.Identification of ICR170-induced XPD mutations in UV-sensitive CHO cells.XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.From proteomics to disease.Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.Small molecule-based targeting of TTD-A dimerization to control TFIIH transcriptional activity represents a potential strategy for anticancer therapyCross Talk between Cellular Regulatory Networks Mediated by Shared Proteins
P2860
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P2860
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
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2000 nî lūn-bûn
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2000年の論文
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Sublimiting concentration of T ...... A trichothiodystrophy disorder
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Sublimiting concentration of T ...... A trichothiodystrophy disorder
@en
Sublimiting concentration of T ...... A trichothiodystrophy disorder
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Sublimiting concentration of T ...... A trichothiodystrophy disorder
@ast
Sublimiting concentration of T ...... A trichothiodystrophy disorder
@en
Sublimiting concentration of T ...... A trichothiodystrophy disorder
@nl
prefLabel
Sublimiting concentration of T ...... A trichothiodystrophy disorder
@ast
Sublimiting concentration of T ...... A trichothiodystrophy disorder
@en
Sublimiting concentration of T ...... A trichothiodystrophy disorder
@nl
P2093
P356
P1433
P1476
Sublimiting concentration of T ...... A trichothiodystrophy disorder
@en
P2093
E Appeldoorn
E Bergmann
J H Hoeijmakers
S Rademakers
W Vermeulen
P2888
P304
P356
10.1038/81603
P407
P577
2000-11-01T00:00:00Z
P6179
1044995480