Zobrazeno 1 - 10
of 31
pro vyhledávání: '"J H, Robbins"'
Autor:
J. H. Robbins, Kenneth H. Kraemer, Dennis W. Dickson, Isabelle Rapin, Y Lindenbaum, Pearl S. Rosenbaum
Publikováno v:
European Journal of Paediatric Neurology. 5:225-242
This is the first detailed description of the neuropathology of a patient with xeroderma pigmentosum/Cockayne syndrome complex (XP/CS). This 6-year-old boy's clinical course, followed from infancy to death, is compared with that of the eight other kn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f5a1a398da2199f7e3fc20bec362ec6
https://doi.org/10.1053/ejpn.2001.0523
https://doi.org/10.1053/ejpn.2001.0523
Publikováno v:
Neurology. 55:1442-1449
Objectives: To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the nervous system, and to illustrate them by the first case of xeroderma pigmentosum–Cockayne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95d1fe5fce88ce2ebbf034119b91fbab
https://doi.org/10.1212/wnl.55.10.1442
https://doi.org/10.1212/wnl.55.10.1442
Publikováno v:
Clinical neuropathology. 21(1)
Xeroderma pigmentosum (XP) is an inherited disease with defective DNA repair. Patients develop skin cancer because of unrepaired DNA damage produced by the ultraviolet radiation (UV) in sunlight. Many XP children also develop XP neurological disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a21326c24962c0fde7788fd49f06c402
https://pubmed.ncbi.nlm.nih.gov/11846040
https://pubmed.ncbi.nlm.nih.gov/11846040
Publikováno v:
The Journal of biological chemistry. 276(38)
8,5'-Cyclopurine-2'-deoxynucleotides, which are strong blocks to mammalian DNA and RNA polymerases, represent a novel class of oxidative DNA lesion in that they are specifically repaired by nucleotide excision repair but not by base excision repair o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::25a76f1554c0aa8a0f7934d41c8ce682
https://pubmed.ncbi.nlm.nih.gov/11454870
https://pubmed.ncbi.nlm.nih.gov/11454870
Publikováno v:
Neurology. 55(10)
To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the nervous system, and to illustrate them by the first case of xeroderma pigmentosum-Cockayne syndrome (XP-C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3c6b3f19e0432f63720dfbcbb6a81a94
https://pubmed.ncbi.nlm.nih.gov/11185579
https://pubmed.ncbi.nlm.nih.gov/11185579
Publikováno v:
The Journal of biological chemistry. 268(7)
We have examined the gene- and strand-specific DNA repair of UV-induced cyclobutane pyrimidine dimers in fibroblasts from normal individuals and from patients with the DNA repair-deficient disorder xeroderma pigmentosum (XP). Cells were studied from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d9e48eacdf5e47472ef1df739e2cfa81
https://pubmed.ncbi.nlm.nih.gov/8444862
https://pubmed.ncbi.nlm.nih.gov/8444862
Publikováno v:
Cancer genetics and cytogenetics. 60(2)
Ultraviolet radiation (UV) in sunlight induces an abnormally high incidence of skin cancer in patients with xeroderma pigmentosum (XP), an autosomal recessive disease with defects in the repair of damaged DNA. We determined the frequency of UV-induce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e3a8228774b7259a82bee8f6f6f6817
https://pubmed.ncbi.nlm.nih.gov/1606553
https://pubmed.ncbi.nlm.nih.gov/1606553
Publikováno v:
Biochemical Journal. 241:929-932
Epstein-Barr-virus-transformed peripheral-blood B-lymphocytes were gamma-irradiated at 0 degree C at doses from 10 to 100 Gy. The cells were immediately lysed and the DNA was isolated. Subsequently, the DNA was hydrolysed to 2′-deoxyribonucleosides
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c21ab211b85a4d788bd3d4692dbf1b97
https://doi.org/10.1042/bj2410929
https://doi.org/10.1042/bj2410929
Autor:
J. H. Robbins
Publikováno v:
Archives of Neurology. 44:581-583
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8df0e7433cde7f9b5abb95cb2274cfd4
https://doi.org/10.1001/archneur.1987.00520180007006
https://doi.org/10.1001/archneur.1987.00520180007006
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 72(1)
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 f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::31f1da0e29fe17979f16fdabaf2006a1
https://pubmed.ncbi.nlm.nih.gov/164028
https://pubmed.ncbi.nlm.nih.gov/164028