Search Results - "Ellis, N A"

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants by Theodoratou, E, Campbell, H, Tenesa, A, Houlston, R, Webb, E, Lubbe, S, Broderick, P, Gallinger, S, Croitoru, E M, Jenkins, M A, Win, A K, Cleary, S P, Koessler, T, Pharoah, P D, Küry, S, Bézieau, S, Buecher, B, Ellis, N A, Peterlongo, P, Offit, K, Aaltonen, L A, Enholm, S, Lindblom, A, Zhou, X-L, Tomlinson, I P, Moreno, V, Blanco, I, Capellà, G, Barnetson, R, Porteous, M E, Dunlop, M G, Farrington, S M

“…Background: Defective DNA repair has a causal role in hereditary colorectal cancer (CRC). Defects in the base excision repair gene MUTYH are responsible for…”
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Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families by Kauff, N D, Perez-Segura, P, Robson, M E, Scheuer, L, Siegel, B, Schluger, A, Rapaport, B, Frank, T S, Nafa, K, Ellis, N A, Parmigiani, G, Offit, K

“…Table 1 Proband demographics Sex Female 70 (100%) Male 0 (0%) Mean age at time of counselling 51.4 (range 32-84) Mean age at initial cancer diagnosis 46.8…”
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Binding and Melting of D-Loops by the Bloom Syndrome Helicase by van Brabant, Anja J, Ye, Tian, Sanz, Maureen, German, James L, Ellis, Nathan A, Holloman, William K

“…Bloom syndrome is a rare autosomal disorder characterized by predisposition to cancer and genomic instability. BLM, the structural gene mutated in individuals…”
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A role for PML and the nuclear body in genomic stability by SUE ZHONG, PENG HU, YE, T.-Z, STAN, R, ELLIS, N. A, PANDOLFI, P. P

“…The PML gene of acute promyelocytic leukemia (APL) encodes a cell-growth and tumor suppressor. PML localizes to discrete nuclear bodies (NBs) that are…”
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DNA helicases in inherited human disorders by Ellis, Nathan A

“…Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome,…”
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The Founder Mutation MSH21906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population by Foulkes, W.D., Thiffault, I., Gruber, S.B., Horwitz, M., Hamel, N., Lee, C., Shia, J., Markowitz, A., Figer, A., Friedman, E., Farber, D., Greenwood, C. M.T., Bonner, J.D., Nafa, K., Walsh, T., Marcus, V., Tomsho, L., Gebert, J., Macrae, F.A., Gaff, C.L., Paillerets, B. Bressac-de, Gregersen, P.K., Weitzel, J.N., Gordon, P.H., MacNamara, E., King, M.-C., Hampel, H., de la Chapelle, A., Boyd, J., Offit, K., Rennert, G., Chong, G., Ellis, N.A.

“…Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by mutations in the mismatch-repair genes. We report here the identification and characterization…”
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Molecular genetics of Bloom's syndrome by Ellis, Nathan A., German, James

“…Mutation of the Bloom's syndrome (BS) gene, BLM, results in genomic instability. As the first step toward positional cloning of the gene, tight linkage of BLM…”
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Genetic evidence that ZFY is not the testis-determining factor by Palmer, M. S, Sinclair, A. H, Berta, P, Ellis, N. A, Goodfellow, P. N, Abbas, N. E, Fellous, M

“…In mammals, the testis determining gene (TDF), present on the Y chromosome, induces the undifferentiated gonads to form testes. The position of TDF on the…”
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BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins by Sanz, M M, Proytcheva, M, Ellis, N A, Holloman, W K, German, J

“…BLM, the protein encoded by the gene mutated in Bloom's syndrome (BS), is a phylogenetically highly conserved DNA helicase that varies in amount and…”
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Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells by ELLIS, N. A, LENNON, D. J, PROYTCHEVA, M, BECKY ALHADEFF, HENDERSON, E. E, GERMAN, J

“…Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood…”
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Transfection of BLM into Cultured Bloom Syndrome Cells Reduces the Sister-Chromatid Exchange Rate toward Normal by Ellis, Nathan A., Proytcheva, Maria, Sanz, Maureen M., Ye, Tian-Zhang, German, James

“…The gene BLM, mutated in Bloom syndrome (BS), encodes the nuclear protein BLM, which when absent, as it is from most BS cells, results in genomic instability…”
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Mutation-causing mutations by Ellis, Nathan A

“…Ellis discusses the gene that causes Werner's syndrome (WS). The gene, which is a member of the of the RecQ helicase family, was cloned recently…”
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The human Y chromosome homologue of XG: transcription of a naturally truncated gene by Weller, P A, Critcher, R, Goodfellow, P N, German, J, Ellis, N A

“…The XG blood group gene spans PABX1, the pseudoautosomal boundary on the X chromosome. The first three exons are pseudoautosomal and the remaining seven are…”
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Demethylation of specific sites in the 5' region of the inactive X-linked human phosphoglycerate kinase gene correlates with the appearance of nuclease sensitivity and gene expression by HANSEN, R. S, ELLIS, N. A, GARTLER, S. M

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Regulation and Localization of the Bloom Syndrome Protein in Response to DNA Damage by Bischof, Oliver, Kim, Sahn-Ho, Irving, John, Beresten, Sergey, Ellis, Nathan A., Campisi, Judith

“…Bloom syndrome (BS) is an autosomal recessive disorder characterized by a high incidence of cancer and genomic instability. BLM, the protein defective in BS,…”
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Bloom Syndrome: An Analysis of Consanguineous Families Assigns the Locus Mutated to Chromosome Band 15q26.1 by German, James, Roe, Anne Marie, Leppert, Mark F., Ellis, Nathan A.

“…By the principle of identity by descent, parental consanguinity in individuals with rare recessively transmitted disorders dictates homozygosity not just at…”
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The Bloom's syndrome gene product is homologous to RecQ helicases by Ellis, Nathan A., Groden, Joanna, Ye, Tian-Zhang, Straughen, Joel, Lennon, David J., Ciocci, Susan, Proytcheva, Maria, German, James

“…The Bloom's syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. A candidate for BLM was identified by…”
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Cloning of PBDX , an MIC2 -related gene that spans the pseudoautosomal boundary on chromosome Xp by Ellis, Nathan A, Ye, Tian-Zhang, Patton, Susan, German, James, Goodfellow, Peter N, Weller, Polly

“…The pseudoautosomal boundaries are the interface between pseudoautosomal and sex chromosome-specific DNA sequences. We have isolated a gene, PBDX, from the…”
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Increased frequency of disease-causing MYH mutations in colon cancer families by Peterlongo, Paolo, Mitra, Nandita, Abajo, Ana Sanchez de, Hoya, Miguel de la, Bassi, Chiara, Bertario, Lucio, Radice, Paolo, Glogowski, Emily, Nafa, Khedoudja, Caldes, Trinidad, Offit, Kenneth, Ellis, Nathan A.

“…The genetic factors that cause clustering of colorectal cancers (CRCs) other than mutations in the mismatch repair (MMR) genes are not well understood…”
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The Xg blood group system: A review by Tippett, Patricia, Ellis, Nathan A.

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