Search Results - "SHERRINGTON, R"

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics by Goldberg, YP, Pimstone, SN, Namdari, R, Price, N, Cohen, C, Sherrington, RP, Hayden, MR

“…We have utilized a novel application of human genetics, illuminating the important role that rare genetic disorders can play in the development of novel drugs…”
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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations by Goldberg, YP, MacFarlane, J, MacDonald, ML, Thompson, J, Dube, M-P, Mattice, M, Fraser, R, Young, C, Hossain, S, Pape, T, Payne, B, Radomski, C, Donaldson, G, Ives, E, Cox, J, Younghusband, HB, Green, R, Duff, A, Boltshauser, E, Grinspan, GA, Dimon, JH, Sibley, BG, Andria, G, Toscano, E, Kerdraon, J, Bowsher, D, Pimstone, SN, Samuels, ME, Sherrington, R, Hayden, MR

“…Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We…”
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A genome-wide scan points to a susceptibility locus for bipolar disorder on chromosome 12 by SHINK, E, MORISSETTE, J, SHERRINGTON, R, BARDEN, N

“…Our previous results pointed to a putative gene for susceptibility to bipolar affective disorder located on the chromosomal region 12q23-q24 that segregated in…”
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Genomewide Genetic Linkage Analysis Confirms the Presence of Susceptibility Loci for Schizophrenia, on Chromosomes 1q32.2, 5q33.2, and 8p21-22 and Provides Support for Linkage to Schizophrenia, on Chromosomes 11q23.3-24 and 20q12.1-11.23 by Gurling, Hugh M.D., Kalsi, Gursharan, Brynjolfson, Jon, Sigmundsson, Thordur, Sherrington, Robin, Mankoo, Baljinder S., Read, Timothy, Murphy, Patrice, Blaveri, Ekaterina, McQuillin, Andrew, Petursson, Hannes, Curtis, David

“…We have performed genetic linkage analysis in 13 large multiply affected families, to test the hypothesis that there is extensive heterogeneity of linkage for…”
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Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease by Cruts, Marc, van Duijn, Cornelia M., Backhovens, Hubert, Van den Broeck, Marleen, Wehnert, Anita, Serneels, Sally, Sherrington, Robin, Hutton, Michael, Hardy, John, St George-Hyslop, Peter H., Hofman, Albert, Van Broeckhoven, Christine

“…Two closely related genes, the presenilins (PS), located at chromosomes 14q24.3 and 1q42.1, have been identified for autosomal dominant Alzheimer disease (AD)…”
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Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene by Rogaev, E. I, Sherrington, R, Rogaeva, E. A, Levesque, G, Ikeda, M, Liang, Y, Chi, H, Lin, C, Holman, K, Tsuda, T, Mar, L, Sorbi, S, Nacmias, B, Piacentini, S, Amaducci, L, Chumakov, I, Cohen, D, Lannfelt, L, Fraser, P. E, Rommens, J. M, George-Hyslop, P. H. St

“…We report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence similarity to the S182 gene on…”
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Alzheimer's Disease Associated with Mutations in Presenilin 2 is Rare and Variably Penetrant by Sherrington, R., Froelich, S., Sorbi, S., Campion, D., Chi, H., Rogaeva, E. A., Levesque, G., Rogaev, E. I., Lin, C., Liang, Y., Ikeda, M., Mar, L., Brice, A., Agid, Y., Percy, M.E., Clerget-Darpoux, F., Piacentini, S., Marcon, G., Nacmias, B., Amaducci, L., Frebourg, T., Lannfelt, L., Rommens, J. M., St George-Hyslop, P. H.

“…Missense mutations in the presenilin 2 (PS-2) gene on chromosome 1 were sought by direct nucleotide sequence analysis of the open reading frame of 60 pedigrees…”
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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease by Sherrington, R, Rogaev, E. I, Liang, Y, Rogaeva, E. A, Levesque, G, Ikeda, M, Chi, H, Lin, C, Li, G, Holman, K, Tsuda, T, Mar, L, Foncin, J.-F, Bruni, A. C, Montesi, M. P, Sorbi, S, Rainero, I, Pinessi, L, Nee, L, Chumakov, I, Pollen, D, Brookes, A, Sanseau, P, Polinsky, R. J, Wasco, W, Da Silva, H. A. R, Haines, J. L, Pericak-Vance, M. A, Tanzi, R. E, Roses, A. D, Fraser, P. E, Rommens, J. M, St George-Hyslop, P. H

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Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease by ROGAEV, E. I, SHERRINGTON, R, DE JONG, P. J, FRASER, P. E, ROMMENS, J. M, ST GEORGE-HYSLOP, P, WU, C, LEVESQUE, G, LIANG, Y, ROGAEVA, E. A, IKEDA, M, HOLMAN, K, LIN, C, LUKIW, W. J

“…Mutations in the human presenilin genes (PSEN1 and PSEN2) are associated with early onset familial Alzheimer disease. The presenilin genes encode integral…”
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Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease by Takiyama, Y, Igarashi, S, Rogaeva, E A, Endo, K, Rogaev, E I, Tanaka, H, Sherrington, R, Sanpei, K, Liang, Y, Saito, M

“…The size of the (CAG)n repeat array in the 3' end of the MJD1 gene and the haplotype at a series of microsatellite markers surrounding the MJD1 gene were…”
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No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins by VINCENT, J. B, KALSI, G, GOTTESMAN, I. I, TORREY, E. F, PETRONIS, A, KENNEDY, J. L, KLEMPAN, T, TATUCH, Y, SHERRINGTON, R. P, BRESCHEL, T, MCINNIS, M. G, BRYNJOLFSSON, J, PETURSSON, H, GURLING, H. M. D

“…Many diseases caused by trinucleotide expansion exhibit increased severity and decreased age of onset (genetic anticipation) in successive generations…”
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Failure to establish linkage on the X chromosome in 301 families with schizophrenia or schizoaffective disorder by DeLisi, L.E., Shaw, S., Sherrington, R., Nanthakumar, B., Shields, G., Smith, A.B., Wellman, N., Larach, V.W., Loftus, J., Razi, K., Stewart, J., Comazzi, M., Vita, A., De Hert, M., Crow, T.J.

“…The hypothesis that a gene for susceptibility to psychosis (specifically in the X‐Y homologous class) is located on the sex chromosomes has been proposed. Such…”
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Intergenerational Instability of the CAG Repeat of the Gene for Machado-Joseph Disease (MJD1) is Affected by the Genotype of the Normal Chromosome: Implications for the Molecular Mechanisms of the Instability of the CAG Repeat by Igarashi, S., Takiyama, Y., Cancel, G., Rogaeva, E. A., Sasaki, H., Wakisaka, A., Zhou, Y.-X., Takano, H., Endo, K., Sanpei, K., Oyake, M., Tanaka, H., Stevanin, G., Abbas, N., Dürr, A., Rogaev, E. I., Sherrington, R., Tsuda, T., Ikeda, M., Cassa, E., Nishizawa, M., Benomar, A., Julien, J., Weissenbach, J., Wang, G.-X., Agid, Y., St. George-Hyslop, P. H., Brice, A., Tsuji, S.

“…Machado-Joseph disease (MJD) is an autosomal dominant multisystem neurodegenerative disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at…”
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Conservation of Synteny between the Genome of the Pufferfish (Fugu rubripes) and the Region on Human Chromosome 14 (14q24.3) Associated with Familial Alzheimer Disease (AD3 Locus) by Trower, Michael K., Orton, Suzanne M., Purvis, Ian J., Sanseau, Philippe, Riley, John, Christodoulou, Chris, Burt, Doreen, See, Chee Gee, Elgar, Greg, Sherrington, Robin, Rogaev, Evgeny I., St. George-Hyslop, Peter, Brenner, Sydney, Dykes, Colin W.

“…The genome of the pufferfish (Fugu rubripes) (400 Mb) is ≈ 7.5 times smaller than the human genome, but it has a similar gene repertoire to that of man. If…”
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Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1 by Sherrington, R, Mankoo, B, Attwood, J, Kalsi, G, Curtis, D, Buetow, K, Povey, S, Gurling, H

“…We identified a cosmid clone with exact sequence homology to part of the human dopamine D5 receptor gene (DRD5) after screening a cosmid library with the human…”
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Linkage analysis of manic depression (bipolar affective disorder) in Icelandic and British kindreds using markers on the short arm of chromosome 18 by Kalsi, G, Smyth, C, Brynjolfsson, J, Sherrington, R S, O'Neill, J, Curtis, D, Rifkin, L, Murphy, P, Petursson, H, Gurling, H M

“…Attempts were made to follow up results of a previous linkage study which suggested that a locus-modifying susceptibility to bipolar and related unipolar…”
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Demonstration of cerebral perfusion abnormalities in moyamoya disease using susceptibility perfusion- and diffusion-weighted MRI by ADAMS, W. M, LAITT, R. D, LI, K. L, JACKSON, A, SHERRINGTON, C. R, TALBOT, P

“…We describe the use of diffusion-weighted imaging and perfusion MRI using a contrast-medium bolus in the preoperative investigation for young man presenting…”
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Linkage analysis of chromosome 22q12-13 in a United Kingdom/Icelandic sample of 23 multiplex schizophrenia families by Kalsi, G, Brynjolfsson, J, Butler, R, Sherrington, R, Curtis, D, Sigmundsson, T, Read, T, Murphy, P, Sharma, T, Petursson, H

“…A possible linkage to a genetic subtype of schizophrenia and related disorders has been reported on the long arm of chromosome 22 at q12-13. (Pulver et al.,…”
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Failure to detect missense mutations in the S182 gene in a series of late-onset Alzheimer's disease cases by Tsuda, T., Chi, H., Liang, Y., Rogaeva, E.A., Sherrington, R., Levesque, G., Ikeda, M., Rogaev, E.I., Pollen, D., Freedman, M., Duara, R., St. George-Hyslop, P.H.

“…The possibility of an interaction of multiple genes has been speculated in pathogenesis of Alzheimer's disease (AD). Because we have recently cloned a novel…”
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New DNA markers with increased informativeness show diminished support for a chromosome 5q11–13 schizophrenia susceptibility locus and exclude linkage in two new cohorts of British and Icelandic families by KALSI, G., MANKOO, B., CURTIS, D., SHERRINGTON, R., MELMER, G., BRYNJOLFSSON, J., SIGMUNDSSON, T., READ, T., MURPHY, P., PETURSSON, H., GURLING, H.

“…Genetic linkage of schizophrenia to markers at 5q11.2–13.3 had been reported previously in five Icelandic and two British families, but attempts at replication…”
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