Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum
نویسندگان
چکیده
منابع مشابه
Relationship of DNA repair to carcinogenesis in xeroderma pigmentosum.
Radioautograms of intact ultraviolet (UV)-irradiated epider mis from a patient with xeroderma pigmentosum showed no detectable abnormality in UV-induced thymidine-3H incorpo ration. This result is consistent with findings in this patient's UV-irradiated skin fibroblasts and lymphocytes and contrasts with findings in cells from typical xeroderma pigmentosum patients, all of which exhibit an impa...
متن کاملRegulation of DNA repair in serum-stimulated xeroderma pigmentosum cells
The regulation of DNA repair during serum stimulation of quiescent cells was examined in normal human cells, in fibroblasts from three xeroderma pigmentosum complementation groups (A, C, and D), in xeroderma pigmentosum variant cells, and in ataxia telangiectasia cells. The regulation of nucleotide excision repair was examined by exposing cells to ultraviolet irradiation at discrete intervals a...
متن کاملRegulation of DNA Pigmentosum Cells Repair in Serum-stimulated Xeroderma
The regulation of DNA repair during serum stimulation of quiescent cells was examined in normal human cells, in fibroblasts from three xeroderma pigmentosum complementation groups (A, C, and D), in xeroderma pigmentosum variant cells, and in ataxia telangiectasia cells. The regulation of nucleotide excision repair was examined by exposing cells to ultraviolet irradiation at discrete intervals a...
متن کاملClues to epidermal cancer proneness revealed by reconstruction of DNA repair-deficient xeroderma pigmentosum skin in vitro.
Sun exposure has been clearly implicated in premature skin aging and neoplastic development. These features are exacerbated in patients with xeroderma pigmentosum (XP), a hereditary disease, the biochemical hallmark of which is a severe deficiency in the nucleotide excision repair of UV-induced DNA lesions. To develop an organotypic model of DNA repair deficiency, we have cultured several strai...
متن کاملGenetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.
Fibroblast strains from 12 patients with xeroderma pigmentosum had lower than normal rates of DNA repair, as determined by autoradiographic studies of ultraviolet-induced unscheduled nuclear DNA synthesis. The nuclei in binuclear cells, obtained by fusing fibroblasts from certain pairs of these strains, had a greater rate of DNA repair than the nuclei of either strain's unfused mononuclear cell...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Blood
سال: 2019
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2019-01-895698