Search Results - "Doggett, NA"

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever by Aksentijevich, I, Centola, M, Deng, Zuoming, Sood, R, Balow, JE Jr, Wood, G, Zaks, N, Mansfield, E, Chen, Xiang, Eisenberg, S, Vedula, A, Shafran, N, Raben, N, Pras, E, Pras, M

“…Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by dramatic episodes of fever and serosal inflammation. This report…”
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Comparison of human genetic and sequence-based physical maps by Mungall, Andrew J, Fan, Ying, Deloukas, Panos, Zhao, Chengfeng, Ghebranious, Nader, Yu, Adong, Doggett, Norman A, Olsen, Anne, Jang, Wonhee, Weber, James L, Broman, Karl W

“…Recombination is the exchange of information between two homologous chromosomes during meiosis. The rate of recombination per nucleotide, which profoundly…”
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MLL is Fused to CBP, a Histone Acetyltransferase, in Therapy-Related Acute Myeloid Leukemia with a t(11;16)(q23;p13.3) by Sobulo, Olatoyosi M., Borrow, Julian, Tomek, Ronald, Reshmi, Shalini, Harden, Alanna, Schlegelberger, Brigitte, Housman, David, Doggett, Norman A., Rowley, Janet D., Zeleznik-Le, Nancy J.

“…The recurring translocation t(11;16)(q23;p13.3) has been documented only in cases of acute leukemia or myelodysplasia secondary to therapy with drugs targeting…”
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Integration of high-resolution array comparative genomic hybridization analysis of chromosome 16q with expression array data refines common regions of loss at 16q23-qter and identifies underlying candidate tumor suppressor genes in prostate cancer by WATSON, J. E, DOGGETT, Norman A, KOWBEL, David, PINKEL, Daniel, SCHMITT, Lars, SIMKO, Jeffry P, VOLIK, Stanislav, WEINBERG, Vivian K, PARIS, Pamela L, COLLINS, Colin, ALBERTSON, Donna G, ANDAYA, Armann, CHINNAIYAN, Arul, VAN DEKKEN, Herman, GINZINGER, David, HAQQ, Christopher, JAMES, Karen, KAMKAR, Sherwin

“…We have constructed a high-resolution genomic microarray of human chromosome 16q, and used it for comparative genomic hybridization analysis of 16 prostate…”
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Isolation of a novel gene underlying batten disease, CLN3 by Lerner, Terry J, Boustany, Rose-Mary N, Anderson, John W, D'Arigo, Kenneth L, Schlumpf, Karen, Buckler, Alan J, Gusella, James F, Haines, Jonathan L

“…Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by…”
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Two variants of MutS homolog hMSH5: Prevalence in humans and effects on protein interaction by Yi, Wei, Wu, Xiling, Lee, Tai-Hsien, Doggett, Norman A., Her, Chengtao

“…MSH5 is known to play functional roles in an array of cellular processes such as DNA damage response and meiotic homologous recombination. Here, we report the…”
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A 360-kb interchromosomal duplication of the human HYDIN locus by Doggett, Norman A., Xie, Gary, Meincke, Linda J., Sutherland, Robert D., Mundt, Mark O., Berbari, Nicolas S., Davy, Brian E., Robinson, Michael L., Rudd, M. Katharine, Weber, James L., Stallings, Raymond L., Han, Cliff

“…The HYDIN gene located in human chromosome band 16q22.2 is a large gene encompassing 423 kb of genomic DNA that has been suggested as a candidate for an…”
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All patients with the T(11;16)(q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders by ROWLEY, J. D, RESHMI, S, BEHM, F, DOGGETT, N. A, BORROW, J, ZELEZNIK-LE, N, SOBULO, O, MUSVEE, T, ANASTASI, J, RAIMONDI, S, SCHNEIDER, N. R, BARREDO, J. C, CANTU, E. S, SCHLEGELBERGER, B

“…The involvement of 11q23-balanced translocations in acute leukemia after treatment with drugs that inhibit the function of DNA topoisomerase II (topo II) is…”
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Positional cloning of the Fanconi anaemia group A gene by Jansen, Stander, Easton, Douglas F, Memeo, Elena, Deaven, Larry L, D'Apolito, Maria, Pronk, Jan C, Cleton-Jansen, Anne-Marie, Verlander, Peter C, Batish, Sat Dev, Mathew, Christopher G, Notarangeio, Angelo, Cornelisse, Cees J, Moyzis, Robert K, Auerbach, Arleen D, Lennon, Gregory, lanzano, Leonarda, Whitmore, Scott A, Callen, David F, Sutherland, Grant R, Doggett, Norman A, Savino, Maria, Apostolou, Sinoula, Morgan, Neil V, de Ravel, Thomy J, Gibson, Rachel A, Crawford, Joanna, Zelante, Leopoldo, Tipping, Alex J, Moerland, Elna W, Levran, Orna, Savoia, Anna, Van Berkell, Carola, Piemontese, Maria Rosaria, Hassock, Sheila, Erlich, Tamar

“…Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and…”
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Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat by Yu, Sui, Mangelsdorf, Marie, Hewett, Duncan, Hobson, Lynne, Baker, Elizabeth, Eyre, Helen J, Lapsys, Naras, Le Paslier, Denis, Doggett, Norman A, Sutherland, Grant R, Richards, Robert I

“…Fragile sites are nonstaining gaps in chromosomes induced by specific tissue culture conditions. They vary both in population frequency and in the culture…”
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Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16 by DANIELS, Rachael J, PEDEN, John F, HIGGS, Douglas R, LLOYD, Christine, HORSLEY, Sharon W, CLARK, Kevin, TUFARELLI, Cristina, KEARNEY, Lyndal, BUCKLE, Veronica J, DOGGETT, Norman A, FLINT, Jonathan

“…We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric…”
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A case for evolutionary genomics and the comprehensive examination of sequence biodiversity by Pollock, D D, Eisen, J A, Doggett, N A, Cummings, M P

“…Comparative analysis is one of the most powerful methods available for understanding the diverse and complex systems found in biology, but it is often limited…”
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The relationship between chromosome structure and function at a human telomeric region by Flint, Jonathan, Thomas, Karen, Micklem, Gos, Raynham, Helen, Clark, Kevin, Doggett, Norman A, Andrew, Andrew, Higgs, Douglas R

“…We have sequenced a contiguous 284,495-bp segment of DNA extending from the terminal (TTAGGG)n repeats of the short arm of chromosome 16, providing a full…”
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Interchromosomal Duplications of the Adrenoleukodystrophy Locus: A Phenomenon of Pericentromeric Plasticity by Eichler, Evan E., Budarf, Marcia L., Rocchi, Mariano, Deaven, Larry L., Doggett, Norman A., Baldini, Antonio, Nelson, David L., Mohrenweiser, Harvey W.

“…A 9.7 kb segment encompassing exons 7–10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has duplicated to specific locations near the…”
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Cloning, structural characterization, and chromosomal localization of the human orthologue of Saccharomyces cerevisiae MSH5 gene by CHENGTAO HER, DOGGETT, N. A

“…We have cloned and characterized the human orthologue of the Saccharomyces cerevisiae MutS homologue 5 (MSH5) cDNA, as well as the human gene that encodes the…”
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Duplication of a Gene-Rich Cluster between 16p11.1 and Xq28: A Novel Pericentromeric-Directed Mechanism for Paralogous Genome Evolution by Eichler, Evan E., Lu, Fei, Shen, Ying, Antonacci, Rachele, Jurecic, Vesna, Doggett, Norman A., Moyzis, Robert K., Baldini, Antonio, Gibbs, Richard A., Nelson, David L.

“…We have identified a 26.5 kb gene-rich duplication shared by human Xq28 and 16p11.1. Complete comparative sequence analysis of cosmids from both loci has…”
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Sequencing, Transcript Identification, and Quantitative Gene Expression Profiling in the Breast Cancer Loss of Heterozygosity Region 16q24.3 Reveal Three Potential Tumor-Suppressor Genes by Powell, Jason A., Gardner, Alison E., Bais, Anthony J., Hinze, Susan J., Baker, Elizabeth, Whitmore, Scott, Crawford, Joanna, Kochetkova, Marina, Spendlove, Hayley E., Doggett, Norman A., Sutherland, Grant R., Callen, David F., Kremmidiotis, Gabriel

“…Loss of heterozygosity (LOH) of chromosome 16q24.3 is a common genetic alteration observed in invasive ductal and lobular breast carcinomas. We constructed a…”
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Loss of Heterozygosity and Internal Tandem Duplication Mutations of the CBP Gene Are Frequent Events in Human Esophageal Squamous Cell Carcinoma by SO, Chi-Kwong, YAN NIE, YUNLONG SONG, YANG, Guang-Yu, CHEN, Suzie, WEI, Caroline, WANG, Li-Dong, DOGGETT, Norman A, YANG, Chung S

“…Purpose: Cyclic AMP response element binding protein binding protein (CBP), a nuclear transcriptional coactivator protein, is an important component of the…”
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Implications of FRA16A Structure for the Mechanism of Chromosomal Fragile Site Genesis by Nancarrow, J. K., Kremer, E., Holman, K., Eyre, H., Doggett, N. A., Le Paslier, D., Callen, D. F., Sutherland, G. R., Richards, R. I.

“…Fragile sites are chemically induced nonstaining gaps in chromosomes. Different fragile sites vary in frequency in the population and in the chemistry of their…”
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Construction of a BAC contig map of chromosome 16q by two-dimensional overgo hybridization by Han, C S, Sutherland, R D, Jewett, P B, Campbell, M L, Meincke, L J, Tesmer, J G, Mundt, M O, Fawcett, J J, Kim, U J, Deaven, L L, Doggett, N A

“…We have used sequence-based markers from an integrated YAC STS-content/somatic cell hybrid breakpoint physical map and radiation hybrid maps of human…”
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