Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.
about
DNA repair: dynamic defenders against cancer and agingCorrection of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH)Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombeTrichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsDiseases associated with defective responses to DNA damagePersistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.Mutagenic specificity of solar UV light in nucleotide excision repair-deficient rodent cells.Premature aging and cancer in nucleotide excision repair-disorders.Ectodermal dysplasias: not only 'skin' deep.A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.Ocular manifestations of trichothiodystrophyPhenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placentaEffect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumGTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyLessons learned from DNA repair defective syndromes.Sunlight, DNA damage and skin cancer: a new perspective.Sunlight-induced cancer: some new aspects and implications of the xeroderma pigmentosum model.Heterogeneity of DNA repair: implications for human disease and oncology.A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I.A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.Management of a young patient with xeroderma pigmentosum.Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation.From proteomics to disease.Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.Trichothiodystrophy.
P2860
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P2860
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.
description
1986 nî lūn-bûn
@nan
1986年の論文
@ja
1986年学术文章
@wuu
1986年学术文章
@zh
1986年学术文章
@zh-cn
1986年学术文章
@zh-hans
1986年学术文章
@zh-my
1986年学术文章
@zh-sg
1986年學術文章
@yue
1986年學術文章
@zh-hant
name
Xeroderma pigmentosum (complem ...... strophy with photosensitivity.
@en
Xeroderma pigmentosum
@nl
type
label
Xeroderma pigmentosum (complem ...... strophy with photosensitivity.
@en
Xeroderma pigmentosum
@nl
prefLabel
Xeroderma pigmentosum (complem ...... strophy with photosensitivity.
@en
Xeroderma pigmentosum
@nl
P2093
P356
P1433
P1476
Xeroderma pigmentosum (complem ...... strophy with photosensitivity.
@en
P2093
C F Arlett
G Trevisan
M Stefanini
P Lagomarsini
S Marinoni
P2860
P2888
P304
P356
10.1007/BF00282072
P577
1986-10-01T00:00:00Z