Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. - Wikidata - wikimedia - TriplyDB

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

http://www.wikidata.org/entity/Q42443501

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Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations Genome-wide comprehensive analysis of human helicases The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship Functional TFIIH is required for UV-induced translocation of CSA to the nuclear matrix Stimulation of the XPB ATP-dependent helicase by the beta subunit of TFIIE Disease-causing missense mutations in human DNA helicase disorders Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome Structure of the DNA Repair Helicase XPD Crystal Structure of the FeS Cluster–Containing Nucleotide Excision Repair Helicase XPD Functional and structural studies of the nucleotide excision repair helicase XPD suggest a polarity for DNA translocation Plasmodium falciparum XPD translocates in 5' to 3' direction, is expressed throughout the blood stages, and interacts with p44 Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice MicroRNA-27a regulates basal transcription by targeting the p44 subunit of general transcription factor IIH.The DNA repair genes XPB and XPD defend cells from retroviral infection Architecture of the Human and Yeast General Transcription and DNA Repair Factor TFIIH Sequential recruitment of the repair factors during NER: the role of XPG in initiating the resynthesis step.Persistence 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 patients G quadruplexes are genomewide targets of transcriptional helicases XPB and XPD.TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression.Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.Dissociation of CAK from core TFIIH reveals a functional link between XP-G/CS and the TFIIH disassembly state.Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7 Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations Premature aging and cancer in nucleotide excision repair-disorders.On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutations XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase.In TFIIH, XPD helicase is exclusively devoted to DNA repair Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.Six genes associated with the clinical phenotypes of individuals with deficient and proficient DNA repair Cockayne syndrome B protein regulates the transcriptional program after UV irradiation TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.Crystal structure of the Rad3/XPD regulatory domain of Ssl1/p44.

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P2860

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

http://www.wikidata.org/entity/Q42443501

description

2003 nî lūn-bûn

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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2003年论文

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2003年论文

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name

Basal transcription defect dis ...... thiodystrophy in XPD patients.

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Basal transcription defect dis ...... thiodystrophy in XPD patients.

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type

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Basal transcription defect dis ...... thiodystrophy in XPD patients.

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Basal transcription defect dis ...... thiodystrophy in XPD patients.

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Basal transcription defect dis ...... thiodystrophy in XPD patients.

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Basal transcription defect dis ...... thiodystrophy in XPD patients.

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Basal transcription defect dis ...... thiodystrophy in XPD patients.

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Anne Keriel

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Bennett Van Houten

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Jean-Marc Egly

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Luca Proietti De Santis

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Miria Stefanini

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Sandy Dubaele

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