1 to 10 of 229 literature results

• Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

  The most severe forms of motoneuron disease manifest in utero are characterized by marked atrophy of spinal cord motoneurons and fetal immobility. Her…

  Authors: Heidi O Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi, Heli Honkala, Satu Kuure, Jonna Tallila, Katri Vuopala, Jaakko Ignatius, Riitta Herva, Leena Peltonen

  Source: Nature genetics. 2008 Feb

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• Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure.

  We examined the association of common variants at the NPPA-NPPB locus with circulating concentrations of the natriuretic peptides, which have blood pr…

  Authors: Christopher Newton-Cheh, Martin G Larson, Ramachandran S Vasan, Daniel Levy, Kenneth D Bloch, Aarti Surti, Candace Guiducci, Sekar Kathiresan, Emelia J Benjamin, Joachim Struck,…

  Source: Nature genetics. 2009 Mar

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• Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

  We carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely asso…

  Authors: John C Chambers, Weihua Zhang, Yun Li, Joban Sehmi, Mark N Wass, Delilah Zabaneh, Clive Hoggart, Henry Bayele, Mark I McCarthy, Leena Peltonen,…

  Source: Nature genetics. 2009 Nov

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• MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

  Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele…

  Authors: Mira Kyttälä, Jonna Tallila, Riitta Salonen, Outi Kopra, Nicolai Kohlschmidt, Paulina Paavola-Sakki, Leena Peltonen, Marjo Kestilä

  Source: Nature genetics. 2006 Feb

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• Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

  To identify susceptibility loci for ankylosing spondylitis, we undertook a genome-wide association study in 2,053 unrelated ankylosing spondylitis cas…

  Authors: Australo-Anglo-American Spondyloarthritis Consortium (TASC), John D Reveille, Anne-Marie Sims, Patrick Danoy, David M Evans, Paul Leo, Jennifer J Pointon, Rui Jin, Xiaodong Zhou, Linda A Bradbury,…

  Source: Nature genetics. 2010 Feb

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• Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

  Genome-wide association studies (GWAS) of longitudinal birth cohorts enable joint investigation of environmental and genetic influences on complex tra…

  Authors: Chiara Sabatti, Susan K Service, Anna-Liisa Hartikainen, Anneli Pouta, Samuli Ripatti, Jae Brodsky, Chris G Jones, Noah A Zaitlen, Teppo Varilo, Marika Kaakinen,…

  Source: Nature genetics. 2009 Jan

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• Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

  Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also o…

  Authors: Jonna Tallila, Eveliina Jakkula, Leena Peltonen, Riitta Salonen, Marjo Kestilä

  Source: American journal of human genetics. 2008 Jun

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• Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

  Blood concentrations of lipoproteins and lipids are heritable risk factors for cardiovascular disease. Using genome-wide association data from three s…

  Authors: Sekar Kathiresan, Olle Melander, Candace Guiducci, Aarti Surti, Noël P Burtt, Mark J Rieder, Gregory M Cooper, Charlotta Roos, Benjamin F Voight, Aki S Havulinna,…

  Source: Nature genetics. 2008 Feb

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• Aire regulates negative selection of organ-specific T cells.

  Autoimmune polyendocrinopathy syndrome type 1 is a recessive Mendelian disorder resulting from mutations in a novel gene, AIRE, and is characterized b…

  Authors: Adrian Liston, Sylvie Lesage, Judith Wilson, Leena Peltonen, Christopher C Goodnow

  Source: Nature immunology. 2003 Apr

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• Identification of ten loci associated with height highlights new biological pathways in human growth.

  Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis…

  Authors: Guillaume Lettre, Anne U Jackson, Christian Gieger, Fredrick R Schumacher, Sonja I Berndt, Serena Sanna, Susana Eyheramendy, Benjamin F Voight, Johannah L Butler, Candace Guiducci,…

  Source: Nature genetics. 2008 May

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