A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
about
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishSequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation.The role of altered nucleotide excision repair and UVB-induced DNA damage in melanomagenesisXeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationshipWide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysXPC: Going where no DNA damage sensor has gone beforeCockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodelingSome molecular and clinical aspects of genetic predisposition to malignant melanoma and tumours of various site of originRescue of progeria in trichothiodystrophy by homozygous lethal Xpd allelesTumor-prone phenotype of the DDB2-deficient miceAn abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndromeTwo-stage dynamic DNA quality check by xeroderma pigmentosum group C protein.Molecular mechanistic associations of human diseasesUnexpected occurrence of xeroderma pigmentosum in an uncle and nephew.Human XPA and RPA DNA repair proteins participate in specific recognition of triplex-induced helical distortionsCockayne syndrome in adults: review with clinical and pathologic study of a new case.Molecular genetics of Xeroderma pigmentosum variant.The DNA repair genes XPB and XPD defend cells from retroviral infectionAn aromatic sensor with aversion to damaged strands confers versatility to DNA repairAn Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.XPB induces C1D expression to counteract UV-induced apoptosis.Cockayne syndrome and xeroderma pigmentosum.On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutationsRole of AKT signaling in DNA repair and clinical response to cancer therapy.Repair of cisplatin-induced DNA interstrand crosslinks by a replication-independent pathway involving transcription-coupled repair and translesion synthesisNucleotide excision repair/transcription gene defects in the fetus and impaired TFIIH-mediated function in transcription in placenta leading to preeclampsia.Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinomaXeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein.Crystal structure of the Rad3/XPD regulatory domain of Ssl1/p44.Ocular manifestations of trichothiodystrophyNuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instabilityLack of recognition by global-genome nucleotide excision repair accounts for the high mutagenicity and persistence of aristolactam-DNA adducts.Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTGIdentification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.The involvement of DNA-damage and -repair defects in neurological dysfunctionCarrier testing for severe childhood recessive diseases by next-generation sequencingNucleotide excision repair in human cells: fate of the excised oligonucleotide carrying DNA damage in vivoUndefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
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P2860
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A summary of mutations in the ...... drome, and trichothiodystrophy
@ast
A summary of mutations in the ...... drome, and trichothiodystrophy
@en
A summary of mutations in the ...... drome, and trichothiodystrophy
@nl
type
label
A summary of mutations in the ...... drome, and trichothiodystrophy
@ast
A summary of mutations in the ...... drome, and trichothiodystrophy
@en
A summary of mutations in the ...... drome, and trichothiodystrophy
@nl
prefLabel
A summary of mutations in the ...... drome, and trichothiodystrophy
@ast
A summary of mutations in the ...... drome, and trichothiodystrophy
@en
A summary of mutations in the ...... drome, and trichothiodystrophy
@nl
P2093
P3181
P1433
P1476
A summary of mutations in the ...... drome, and trichothiodystrophy
@en
P2093
A S Richardson
J C States
J E Cleaver
L H Thompson
P3181
P356
10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.3.CO;2-Y
P407
P577
1999-01-01T00:00:00Z