Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
about
True lies: the double life of the nucleotide excision repair factors in transcription and DNA repairHES1 is a novel interactor of the Fanconi anemia core complexMutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processingType 3 deiodinase, a thyroid-hormone-inactivating enzyme, controls survival and maturation of cone photoreceptorsAn Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair.Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.Deciphering direct and indirect influence of thyroid hormone with mouse genetics.On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutationsIn TFIIH, XPD helicase is exclusively devoted to DNA repairDynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.The phosphorylation of the androgen receptor by TFIIH directs the ubiquitin/proteasome process.Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic diseaseDNA repair mechanisms in dividing and non-dividing cells.TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.Thyroid hormone action in cerebellum and cerebral cortex development.High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome.E2F1 and p53 transcription factors as accessory factors for nucleotide excision repair.Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells.Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?Multigenic control of thyroid hormone functions in the nervous system.GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyAbnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.Nucleotide excision repair deficient mouse models and neurological disease.DNA repair deficiency and neurological disease.Emerging roles of the ubiquitin-proteasome system in the steroid receptor signaling.Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.Mat1 inhibits peroxisome proliferator-activated receptor gamma-mediated adipocyte differentiation.Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic diseaseThe fanconi anemia core complex acts as a transcriptional co-regulator in hairy enhancer of split 1 signaling.Neuroimaging in Cockayne syndrome.XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.DNA damage-associated oligodendrocyte degeneration precedes amyloid pathology and contributes to Alzheimer's and dementia.DNA damage in the oligodendrocyte lineage and its role in brain aging.MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
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P2860
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
description
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2007
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im November 2007 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2007/11/01)
@sk
vědecký článek publikovaný v roce 2007
@cs
wetenschappelijk artikel (gepubliceerd op 2007/11/01)
@nl
наукова стаття, опублікована в листопаді 2007
@uk
مقالة علمية (نشرت في نوفمبر 2007)
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name
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@ast
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@en
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@nl
type
label
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@ast
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@en
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@nl
prefLabel
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@ast
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@en
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@nl
P2093
P50
P921
P356
P1433
P1476
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
@en
P2093
Emiliana Borrelli
Monica Malerba
P2888
P304
P356
10.1038/NN1990
P407
P577
2007-11-01T00:00:00Z