Crawford, Dana C. Schwartz, Charles E. Meadows, Kellen L. Newman, James L. Taft, Lisa F. Gunter, Chris Brown, W. Ted Carpenter, Nancy J. Howard-Peebles, Patricia N. Monaghan, Kristin G.
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Published in
The American Journal of Human Genetics
Sesti, Federico Abbott, Geoffrey W Wei, Jian Murray, Katherine T Saksena, Sanjeev Schwartz, Peter J Priori, Silvia G Roden, Dan M George, Alfred L Goldstein, Steve AN
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Drug-induced long QT syndrome (LQTS) is a prevalent disorder of uncertain etiology that predisposes to sudden death. KCNE2 encodes MinK-related peptide 1 (MiRP1), a subunit of the cardiac potassium channel I(Kr) that has been associated previously with inherited LQTS. Here, we examine KCNE2 in 98 patients with drug-induced LQTS, identifying three i...
Nyholt, D.R.
Jamain, S Quach, H Fellous, M Bourgeron, T
Published in
Genomics
Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of Drosophila kinesin-73. Several ...
Crane, A.M. Bradbury, L.A. Van Heel, D.A. McGovern, D.P.B. Brophy, S. Rubin, L. Siminovitch, K.A. Wordsworth, B.P. Calin, A. Brown, M.A.
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Objective
To investigate the role of the gene NOD2 in susceptibility to, and clinical manifestations of, ankylosing spondylitis (AS). Methods
A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro268Ser, Arg702Trp, Gly908Arg, and Leu1007fsinsC) was performed in 229 cases of primary AS with no diagnosed infl...
Johnson, Matthew Lea, Rodney Curtain, Robert Macmillan, John Griffiths, Lyn
Migraine is a common complex disorder, currently classified into two main subtypes, migraine with aura (MA) and migraine without aura (MO). The strong preponderance of females to males suggests an X-linked genetic component. Recent studies have identified an X chromosomal susceptibility region (Xq24-q28) in two typical migraine pedigrees. This regi...
Johnson, Matthew Lea, Rodney Curtain, Robert Macmillan, John Griffiths, Lyn
Migraine is a common complex disorder, currently classified into two main subtypes, migraine with aura (MA) and migraine without aura (MO). The strong preponderance of females to males suggests an X-linked genetic component. Recent studies have identified an X chromosomal susceptibility region (Xq24-q28) in two typical migraine pedigrees. This regi...
Goedecke, V. Crane, A. M. Jaakkola, E. Kaluza, W. Laiho, K. Weeks, D. E. Wilson, J. Kauppi, M. Kaarela, K. Tuomilehto, J.
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Genetic polymorphisms of the IL10 promoter region have been implicated in many autoimmune diseases, including seronegative spondyloarthropathies. We studied three SNPs (IL10-1087,-824, and -597) and two microsafellites(IL10R and IL10G) lying within the promoter region of IL10 for association with susceptibility to and clinical manifestations of ank...
Jaakkola, E. Crane, A. M. Laiho, K. Herzberg, I. Sims, A. M. Bradbury, L. Calin, A. Brophy, S. Kauppi, M. Kaarela, K.
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Objectives. To determine whether genetic polymorphisms in or near the transforming growth factor β1 (TGFB1) locus were associated d with susceptibility to or severity of ankylosing spondylitis (AS). Methods. Five intragenic single-nucleotide polymorphisms (SNP) and three microsatellite markers flanking the TGFB1 locus were genotyped. Seven hundred ...
Nielsen, Rasmus
The large single nucleotide polymorphism (SNP) typing projects have provided an invaluable data resource for human population geneticists. Almost all of the available SNP loci, however, have been identified through a SNP discovery protocol that will influence the allelic distributions in the sampled loci. Standard methods for population genetic ana...
