| Publications | DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977) PubMed=198418; DOI=10.1002/jcp.1040930116
Oshima R.G., Pellett O.L., Robb J.A., Schneider J.A.
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
Day R.S. III, Ziolkowski C.H.J., Scudiero D.A., Meyer S.A., Lubiniecki A.S., Girardi A.J., Galloway S.M., Bynum G.D.
Defective repair of alkylated DNA by human tumour and SV40-transformed human cell strains.
Nature 288:724-727(1980) DOI=10.2307/1308677
Day R.S. III
Adenovirus: a probe for human cells deficient in DNA repair.
BioScience 31:807-813(1981) PubMed=7273335; DOI=10.1093/carcin/2.6.567
Simon L., Hazard R.M., Maher V.M., McCormick J.J.
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
Green M.H.L., Lowe J.E., Arlett C.F., Harcourt S.A., Burke J.F., James M.R., Lehmann A.R., Povey S.
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
Hahn P., Kapp L.N., Painter R.B.
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
Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.
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
Lehmann A.R., Willis A.E., Broughton B.C., James M.R., Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.
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
Fukuchi K.-i., Martin G.M., Monnat R.J. 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
Reichardt J.K.V., Woo S.L.C.
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
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992) PubMed=8464385; DOI=10.1093/mutage/8.2.155
McDowell M.L., Nguyen T., Cleaver J.E.
A single-site mutation in the XPAC gene alters photoproduct recognition.
Mutagenesis 8:155-161(1993) PubMed=8069455; DOI=10.1007/BF02631450
Fukuchi K.-i., Hearn M.G., Deeb S.S., Smith A.C., Ngoc Thao D., Miyazaki J.-i., Bothwell M., Martin G.M.
Activity assays of nine heterogeneous promoters in neural and other cultured cells.
In Vitro Cell. Dev. Biol. Anim. 30:300-305(1994) PubMed=8808599
Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D., Concannon P.
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
Enns L., Barley R.D.C., Paterson M.C., Mirzayans R.
Radiosensitivity in ataxia telangiectasia fibroblasts is not associated with deregulated apoptosis.
Radiat. Res. 150:11-16(1998) PubMed=10521302; DOI=10.1086/302616
Ellis N.A., Proytcheva M., Sanz M.M., Ye T.-Z., German J.L. III
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.041416598
Peretz S., Jensen R., Baserga R., Glazer P.M.
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
Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M., Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M., Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T., Cleaver J.E., Kraemer K.H.
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
Donahue S.L., Campbell C.
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
Khan S.G., Metin A., Gozukara E.M., Inui H., Shahlavi T., Muniz-Medina V., Baker C.C., Ueda T., Aiken J.R., Schneider T.D., Kraemer K.H.
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
Henson J.D.
The role of alternative lengthening of telomeres in human cancer.
Thesis PhD (2006), University of Sydney, Australia PubMed=16081512; DOI=10.1093/carcin/bgi204
Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A., Kraemer K.H.
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
Cruet-Hennequart S., Coyne S., Glynn M.T., Oakley G.G., Carty M.P.
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
Arlett C.F., Plowman P.N., Rogers P.B., Parris C.N., Abbaszadeh F., Green M.H.L., McMillan T.J., Bush C., Foray N., Lehmann A.R.
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
Schwarz S.B., Schaffer P.M., Kulka U., Ertl-Wagner B., Hell R., Schaffer M.
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
Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G., Nadem C., DiGiovanna J.J., Kraemer K.H.
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
Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J., Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C., Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H.
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
Henson J.D., Cao Y., Huschtscha L.I., Chang A.C.-M., Au A.Y.M., Pickett H.A., Reddel R.R.
DNA C-circles are specific and quantifiable markers of alternative-lengthening-of-telomeres activity.
Nat. Biotechnol. 27:1181-1185(2009) |
|---|