Výsledky vyhledávání - "J H, Robbins"

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Autor: Robert T. Johnson

Publikováno v: Human Genetics. 84:101-101

We are grateful to Dr. Robbins for his comments on our recent paper (Johnson et al. 1989), and for bringing to our attention reports of the complete complementation of unscheduled DNA synthesis (UDS) in heterokaryons formed between fibroblasts from x

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d9b299501efe296345fea520dbcf72c2
https://doi.org/10.1007/bf00210686

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Xeroderma pigmentosum/Cockayne syndrome complex: first neuropathological study and review of eight other cases

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

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Cockayne syndrome and xeroderma pigmentosum: DNA repair disorders with overlaps and paradoxes

Autor: Isabelle Rapin, Dennis W. Dickson, Y. Lindenbaum, Kenneth H. Kraemer, J. H. Robbins

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

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Adult-onset xeroderma pigmentosum neurological disease--observations in an autopsy case

Autor: J H, Robbins, K H, Kraemer, S N, Merchant, R A, Brumback

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

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A 32P-postlabeling assay for the oxidative DNA lesion 8,5'-cyclo-2'-deoxyadenosine in mammalian tissues: evidence that four type II I-compounds are dinucleotides containing the lesion in the 3' nucleotide

Autor: K, Randerath, G D, Zhou, R L, Somers, J H, Robbins, P J, Brooks

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

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Cockayne syndrome and xeroderma pigmentosum

Autor: I, Rapin, Y, Lindenbaum, D W, Dickson, K H, Kraemer, J H, Robbins

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

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Gene-specific DNA repair in xeroderma pigmentosum complementation groups A, C, D, and F. Relation to cellular survival and clinical features

Autor: M K, Evans, J H, Robbins, M B, Ganges, R E, Tarone, R S, Nairn, V A, Bohr

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

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Skin cancer and chromosomal aberrations induced by ultraviolet radiation. Evidence for lack of correlation in xeroderma pigmentosum variant and group E patients

Autor: L R, Seguin, M B, Ganges, R E, Tarone, J H, Robbins

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

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