Pages that link to "Q34101887"

The following pages link to Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene (Q34101887):

Displaying 48 items.

• Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality (Q24339524) (← links)
• Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development (Q24631400) (← links)
• Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations (Q24633351) (← links)
• Disease-causing missense mutations in human DNA helicase disorders (Q26828898) (← links)
• Structure of the DNA Repair Helicase XPD (Q27650710) (← links)
• A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A (Q28268795) (← links)
• Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles (Q28469053) (← links)
• Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing (Q28507301) (← links)
• Monogenic and polygenic determinants of sarcoma risk: an international genetic study (Q32491318) (← links)
• Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy (Q33333583) (← links)
• An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair. (Q33396433) (← links)
• Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients (Q33590419) (← links)
• Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts. (Q33951430) (← links)
• Premature aging and cancer in nucleotide excision repair-disorders (Q34025252) (← links)
• Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome (Q34129840) (← links)
• On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutations (Q34174006) (← links)
• XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase. (Q34184951) (← links)
• Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity (Q35006896) (← links)
• Ocular manifestations in the inherited DNA repair disorders. (Q35057146) (← links)
• Ocular manifestations of trichothiodystrophy (Q35592622) (← links)
• Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. (Q35605167) (← links)
• Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase (Q35677751) (← links)
• DNA charge transport as a first step in coordinating the detection of lesions by repair proteins (Q35751064) (← links)
• Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure (Q35902582) (← links)
• Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. (Q35924632) (← links)
• Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta (Q35969027) (← links)
• Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. (Q36098651) (← links)
• Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl (Q36299492) (← links)
• Nucleotide excision repair and cancer (Q36541663) (← links)
• Syndromes with genetic instability: model diseases for (skin) cancerogenesis (Q36574973) (← links)
• Lessons learned from DNA repair defective syndromes (Q36828947) (← links)
• Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage (Q36986273) (← links)
• Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. (Q37043787) (← links)
• Global contributions to the understanding of DNA repair and skin cancer (Q38258797) (← links)
• Functional crosstalk between hOgg1 and the helicase domain of Cockayne syndrome group B protein (Q38358620) (← links)
• Xeroderma pigmentosum: children of the moon (Q38512325) (← links)
• Generation of DNA single-strand displacement by compromised nucleotide excision repair (Q39302473) (← links)
• Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells (Q40639081) (← links)
• Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation (Q41923302) (← links)
• Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome (Q42219051) (← links)
• Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes (Q42440468) (← links)
• Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients (Q42443501) (← links)
• A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity (Q42510034) (← links)
• Molecular cloning and expression analysis of xpd from zebrafish (Danio rerio). (Q42629581) (← links)
• Structural and molecular hair abnormalities in trichothiodystrophy. (Q52016745) (← links)
• A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D (Q89667499) (← links)
• Germline SDHB-inactivating mutation in gastric spindle cell sarcoma (Q96163691) (← links)
• A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing (Q98502743) (← links)