Publications | DOI=10.5962/bhl.title.4090 Lewis Lemon Coriell, Arthur E. Greene; The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977. (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) PubMed=198418; DOI=10.1002/jcp.1040930116 Robert G. Oshima, Ocean L. Pellett, James Arthur Robb, Jerry A. Schneider; Transformation of human cystinotic fibroblasts by SV40: characteristics of transformed cells with limited and unlimited growth potential. J. Cell. Physiol. 93:129-136(1977) PubMed=6256643; DOI=10.1038/288724a0 Rufus S. Day 3rd, Chuck H.J. Ziolkowski, Dominic A. Scudiero, Sharon A. Meyer, Anthony S. Lubiniecki, Anthony Joseph Girardi, Sheila Margaret Galloway, Gaither D. Bynum; Defective repair of alkylated DNA by human tumour and SV40-transformed human cell strains. Nature 288:724-727(1980) DOI=10.2307/1308677 Rufus S. Day 3rd; Adenovirus: a probe for human cells deficient in DNA repair. BioScience 31:807-813(1981) PubMed=7273335; DOI=10.1093/carcin/2.6.567 Louise Simon, Royce M. Hazard, Veronica M. Maher, J. Justin McCormick; Enhanced cell killing and mutagenesis by ethylnitrosourea in xeroderma pigmentosum cells. Carcinogenesis 2:567-570(1981) PubMed=2821020; DOI=10.1242/jcs.1984.Supplement_6.8 Michael H.L. Green, Jill E. Lowe, Colin Francis Arlett, Susan A. Harcourt, Julian F. Burke, Michael R. James, Alan R. Lehmann, Susan Povey; A gamma-ray-resistant derivative of an ataxia telangiectasia cell line obtained following DNA-mediated gene transfer. J. Cell Sci. Suppl. 6:127-137(1987) PubMed=3023120; DOI=10.1016/0014-4827(87)90418-6 Peter Hahn, Leon N. Kapp, Robert Blair Painter; Establishment and characterization of two human cell lines with amplified dihydrofolate reductase genes. Exp. Cell Res. 168:89-94(1987) PubMed=2903889; DOI=10.1080/09553008814552321 Colin Francis Arlett, Michael H.L. Green, Anne Priestley, Susan A. Harcourt, Lynne V. Mayne; Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes. Int. J. Radiat. Biol. 54:911-928(1988) PubMed=3180052 Alan R. Lehmann, Anne Elizabeth Willis, Bernard C. Broughton, Michael R. James, Herdis Steingrimsdottir, Susan A. Harcourt, Colin Francis Arlett, Tomas Robert Lindahl; Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome. Cancer Res. 48:6343-6347(1988) PubMed=2762303; DOI=10.1073/pnas.86.15.5893; PMCID=PMC297737 Ken-ichiro Fukuchi, George M. Martin, Raymond J. Monnat Jr.; Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc. Natl. Acad. Sci. U.S.A. 86:5893-5897(1989) PubMed=2011574; DOI=10.1073/pnas.88.7.2633; PMCID=PMC51292 Juergen K.V. Reichardt, Savio L.C. Woo; Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991) CLPUB00447 Richard A. Mulivor, Sharon F. Suchy; 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=8464385; DOI=10.1093/mutage/8.2.155 Mindy L. McDowell, Thai Nguyen, James Edward Cleaver; A single-site mutation in the XPAC gene alters photoproduct recognition. Mutagenesis 8:155-161(1993) PubMed=8069455; DOI=10.1007/BF02631450 Ken-ichiro Fukuchi, Mark G. Hearn, Samir S. Deeb, Annette C. Smith, Dang Ngoc Thao, Jun-ichi Miyazaki, Mark Bothwell, George M. Martin; Activity assays of nine heterogeneous promoters in neural and other cultured cells. In Vitro Cell. Dev. Biol. Anim. 30:300-305(1994) PubMed=8808599; PMCID=PMC1914811 Jocyndra Wright, Sharon Teraoka, Suna Onengut, Aslihan Tolun, Richard A. Gatti, Hans D. Ochs, Patrick Concannon; A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. Am. J. Hum. Genet. 59:839-846(1996) PubMed=9650596; DOI=10.2307/3579639 Louise Enns, Randy D.C. Barley, Malcolm C. Paterson, Razmik Mirzayans; Radiosensitivity in ataxia telangiectasia fibroblasts is not associated with deregulated apoptosis. Radiat. Res. 150:11-16(1998) PubMed=10521302; DOI=10.1086/302616; PMCID=PMC1288289 Nathan A. Ellis, Maria Proytcheva, Maureen M. Sanz, Tian-Zhang Ye, James Lafayette German 3rd; Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. Am. J. Hum. Genet. 65:1368-1374(1999) PubMed=11172010; DOI=10.1073/pnas.98.4.1676; PMCID=PMC29316 Shani Peretz, Ryan B. Jensen, Renato Baserga, Peter M. Glazer; ATM-dependent expression of the insulin-like growth factor-I receptor in a pathway regulating radiation response. Proc. Natl. Acad. Sci. U.S.A. 98:1676-1681(2001) PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x Steffen Emmert, Hanoch Slor, David B. Busch, Sima Batko, Roberta B. Albert, Donna M. Coleman, Sikandar G. Khan, Bassam Abu-Libdeh, John Joseph DiGiovanna, Bari Bickel Cunningham, Myung-Moo Lee ...Show all 19 authors... , Jill Crollick, Hiroki Inui, Takahiro Ueda, Mohammad Hedayati, Lawrence Grossman, Tala Shahlavi, James Edward Cleaver, Kenneth H. Kraemer; Show fewer authors Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J. Invest. Dermatol. 118:972-982(2002) PubMed=12361951; DOI=10.1074/jbc.M207937200 Sarah L. Donahue, Colin Campbell; A DNA double strand break repair defect in Fanconi anemia fibroblasts. J. Biol. Chem. 277:46243-46247(2002) PubMed=14662655; DOI=10.1093/hmg/ddh026 Sikandar G. Khan, Ahmet Metin, Engin Mevlut Gozukara, Hiroki Inui, Tala Shahlavi, Vanessa Muniz-Medina, Carl C. Baker, Takahiro Ueda, Juliet R. Aiken, Thomas D. Schneider, Kenneth H. Kraemer; Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum. Mol. Genet. 13:343-352(2004) CLPUB00712 Jeremy David Henson; The role of alternative lengthening of telomeres in human cancer. Thesis PhD (2006); University of Sydney; Sydney; Australia PubMed=16081512; DOI=10.1093/carcin/bgi204 Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94(2006) PubMed=16520097; DOI=10.1016/j.dnarep.2006.01.008 Severine Cruet-Hennequart, Seamus Coyne, Macdara T. Glynn, Gregory G. Oakley, Michael P. Carty; UV-induced RPA phosphorylation is increased in the absence of DNA polymerase eta and requires DNA-PK. DNA Repair 5:491-504(2006) PubMed=16714754; DOI=10.1259/bjr/83726649 Colin Francis Arlett, Piers N. Plowman, Paul Bryan Rogers, Christopher N. Parris, Fatemeh Abbaszadeh, Michael H.L. Green, Trevor J. McMillan, Cyd Bush, Nicolas Foray, Alan R. Lehmann; Clinical and cellular ionizing radiation sensitivity in a patient with xeroderma pigmentosum. Br. J. Radiol. 79:510-517(2006) PubMed=18433479; DOI=10.1186/1748-717X-3-12; PMCID=PMC2387149 Silke B. Schwarz, Pamela M. Schaffer, Ulrike Kulka, Birgit Ertl-Wagner, Roswitha Hell, Moshe Schaffer; The effect of radio-adaptive doses on HT29 and GM637 cells. Radiat. Oncol. 3:12.1-12.6(2008) PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783 Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, Kyoko Imoto, Deborah Tamura, Jared Jagdeo, Sikandar G. Khan, Carine Nadem, John Joseph DiGiovanna, Kenneth H. Kraemer; Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum. Mutat. 29:1194-1208(2008) PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809 Sikandar G. Khan, Kyu-Seon Oh, Steffen Emmert, Kyoko Imoto, Deborah Tamura, John Joseph DiGiovanna, Tala Shahlavi, Najealicka Armstrong, Carl C. Baker, Marcy Neuburg, Christopher Zalewski ...Show all 15 authors... , Carmen C. Brewer, Edythe Wiggs, Raphael Schiffmann, Kenneth H. Kraemer; Show fewer authors XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair 8:114-125(2009) PubMed=19935656; DOI=10.1038/nbt.1587 Jeremy David Henson, Ying Cao, Lily I. Huschtscha, Andy C.-M. Chang, Amy Y.M. Au, Hilda A. Pickett, Roger Robert Reddel; DNA C-circles are specific and quantifiable markers of alternative-lengthening-of-telomeres activity. Nat. Biotechnol. 27:1181-1185(2009) |