Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Autor: Rhodes CJ; Department of Medicine, Imperial College London, London, UK., Batai K; Department of Surgery, University of Arizona, Tucson, AZ, USA., Bleda M; Department of Medicine, University of Cambridge, Cambridge, UK., Haimel M; Department of Medicine, University of Cambridge, Cambridge, UK., Southgate L; Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK., Germain M; Sorbonne Universités, UPMC, INSERM, Paris, France., Pauciulo MW; Human Genetics, Cincinnati, OH, USA., Hadinnapola C; Department of Medicine, University of Cambridge, Cambridge, UK., Aman J; Department of Medicine, Imperial College London, London, UK., Girerd B; University Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France., Arora A; Department of Surgery, University of Arizona, Tucson, AZ, USA., Knight J; Data Science Institute, Lancaster University, Lancaster, UK., Hanscombe KB; Genetics and Molecular Medicine, King's College London, London, UK., Karnes JH; Pharmacy Practice and Science, University of Arizona, Tucson, AZ, USA., Kaakinen M; Department of Medicine, Imperial College London, London, UK., Gall H; University of Giessen and Marburg Lung Center, Giessen, Germany., Ulrich A; Department of Medicine, Imperial College London, London, UK., Harbaum L; Department of Medicine, Imperial College London, London, UK., Cebola I; Department of Medicine, Imperial College London, London, UK., Ferrer J; Department of Medicine, Imperial College London, London, UK., Lutz K; Human Genetics, Cincinnati, OH, USA., Swietlik EM; Department of Medicine, University of Cambridge, Cambridge, UK., Ahmad F; University of Iowa, Iowa City, IA, USA., Amouyel P; University of Lille, Lille, France., Archer SL; Queen's University, Kingston, ON, Canada., Argula R; Medical University of South Carolina, Charleston, SC, USA., Austin ED; Vanderbilt University, Nashville, TN, USA., Badesch D; University of Colorado Denver, Denver, CO, USA., Bakshi S; Baylor Research Institute, Plano, TX, USA., Barnett C; Medstar Health, Washington, DC, USA., Benza R; Allegheny-Singer Research Institute, Pittsburgh, PA, USA., Bhatt N; Ohio State University, Columbus, OH, USA., Bogaard HJ; VU University Medical Center, Amsterdam, Netherlands., Burger CD; Mayo Clinic Florida, Jacksonville, FL, USA., Chakinala M; Washington University, St Louis, MO, USA., Church C; Golden Jubilee National Hospital, Glasgow, UK., Coghlan JG; Royal Free Hospital, London, UK., Condliffe R; Royal Hallamshire Hospital, Sheffield, UK., Corris PA; University of Newcastle, Newcastle, UK., Danesino C; University of Pavia, Pavia, Italy., Debette S; University of Bordeaux, Bordeaux, France., Elliott CG; Intermountain Medical Center, Murray, UT, USA., Elwing J; University of Cincinnati, Cincinnati OH, USA., Eyries M; Sorbonne Universités, UPMC, INSERM, Paris, France., Fortin T; Duke University Medical Center, Durham, NC, USA; University of Kiel, Kiel, Germany., Franke A; University of Kiel, Kiel, Germany., Frantz RP; Mayo Clinic, Rochester, MN, USA., Frost A; Houston Methodist Research Institute, Houston, TX, USA., Garcia JGN; Department of Medicine, University of Arizona, Tucson, AZ, USA., Ghio S; Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Ghofrani HA; University of Giessen and Marburg Lung Center, Giessen, Germany., Gibbs JSR; National Heart and Lung Institute, Imperial College London, London, UK., Harley J; CAGE, Cincinnati, OH, USA., He H; Human Genetics, Cincinnati, OH, USA., Hill NS; Tufts-New England Medical Center, Boston, MA, USA., Hirsch R; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; University of Cincinnati, Cincinnati OH, USA., Houweling AC; VU University Medical Center, Amsterdam, Netherlands., Howard LS; National Heart and Lung Institute, Imperial College London, London, UK., Ivy D; Health Sciences Center, University of Colorado, Aurora, CO, USA., Kiely DG; Royal Hallamshire Hospital, Sheffield, UK., Klinger J; Rhode Island Hospital, Providence, RI, USA., Kovacs G; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Lahm T; Indiana University, Indianapolis, IN, USA., Laudes M; University of Kiel, Kiel, Germany., Machado RD; University of Lincoln, Lincoln, UK., MacKenzie Ross RV; Royal United Hospitals Bath NHS Foundation Trust, Bath, UK., Marsolo K; Biomedical Informatics, Cincinnati, OH, USA., Martin LJ; Human Genetics, Cincinnati, OH, USA., Moledina S; Great Ormond Street Hospital, London, UK., Montani D; University Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France., Nathan SD; Inova Heart and Vascular Institute, Falls Church, VA, USA., Newnham M; Department of Medicine, University of Cambridge, Cambridge, UK; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Olschewski A; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Olschewski H; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Oudiz RJ; Harbor-UCLA Medical Center, Torrance, CA, USA., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge, UK., Peacock AJ; Golden Jubilee National Hospital, Glasgow, UK., Pepke-Zaba J; Papworth Hospital, Papworth, UK., Rehman Z; East Carolina University, Greenville, NC, USA., Robbins I; Vanderbilt University School of Medicine, Nashville, TN, USA., Roden DM; Vanderbilt University School of Medicine, Nashville, TN, USA., Rosenzweig EB; Columbia University, New York, NY, USA., Saydain G; Wayne State University, Detroit, MI, USA., Scelsi L; Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Schilz R; University Hospital of Cleveland, Cleveland, OH, USA., Seeger W; University of Giessen and Marburg Lung Center, Giessen, Germany., Shaffer CM; Vanderbilt University School of Medicine, Nashville, TN, USA., Simms RW; Boston University School of Medicine, Boston, MA, USA., Simon M; University of Pittsburgh, Pittsburgh, PA, USA., Sitbon O; University Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France., Suntharalingam J; Royal United Hospitals Bath NHS Foundation Trust, Bath, UK., Tang H; Department of Medicine, University of Arizona, Tucson, AZ, USA., Tchourbanov AY; Ambry Genetics, Aliso Viejo, CA, USA., Thenappan T; University of Minnesota, Minneapolis, MN, USA., Torres F; University of Texas Southwestern Medical Center, Dallas, TX, USA., Toshner MR; Department of Medicine, University of Cambridge, Cambridge, UK., Treacy CM; Department of Medicine, University of Cambridge, Cambridge, UK., Vonk Noordegraaf A; VU University Medical Center, Amsterdam, Netherlands., Waisfisz Q; VU University Medical Center, Amsterdam, Netherlands., Walsworth AK; Human Genetics, Cincinnati, OH, USA., Walter RE; Louisiana State University Health, Shreveport, LA, USA., Wharton J; Department of Medicine, Imperial College London, London, UK., White RJ; University of Rochester Medical Center, Rochester, NY, USA., Wilt J; Spectrum Health Hospitals, Grand Rapids, MI, USA., Wort SJ; National Heart and Lung Institute, Imperial College London, London, UK., Yung D; Seattle Children's Hospital, Seattle, WA, USA., Lawrie A; University of Sheffield, Sheffield, UK., Humbert M; University Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France., Soubrier F; Sorbonne Universités, UPMC, INSERM, Paris, France., Trégouët DA; Sorbonne Universités, UPMC, INSERM, Paris, France., Prokopenko I; Department of Medicine, Imperial College London, London, UK., Kittles R; City of Hope, Duarte, CA, USA., Gräf S; Department of Medicine, University of Cambridge, Cambridge, UK., Nichols WC; Human Genetics, Cincinnati, OH, USA., Trembath RC; Genetics and Molecular Medicine, King's College London, London, UK., Desai AA; Indiana University, Indianapolis, IN, USA. Electronic address: ankdesai@iu.edu., Morrell NW; Department of Medicine, University of Cambridge, Cambridge, UK. Electronic address: nwm23@cam.ac.uk., Wilkins MR; Department of Medicine, Imperial College London, London, UK. Electronic address: m.wilkins@imperial.ac.uk.

Publikováno v: The Lancet. Respiratory medicine [Lancet Respir Med] 2019 Mar; Vol. 7 (3), pp. 227-238. Date of Electronic Publication: 2018 Dec 05.

Mechanical Stress and Single Nucleotide Variants Regulate Alternative Splicing of the MYLK Gene.

Autor: Mascarenhas JB; 1 Department of Medicine, and., Tchourbanov AY; 2 Arizona Research Laboratory, University of Arizona, Tucson, Arizona; and., Fan H; 3 Department of Anesthesiology, University of Illinois at Chicago, Chicago, Illinois., Danilov SM; 1 Department of Medicine, and.; 3 Department of Anesthesiology, University of Illinois at Chicago, Chicago, Illinois., Wang T; 1 Department of Medicine, and., Garcia JG; 1 Department of Medicine, and.

Publikováno v: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2017 Jan; Vol. 56 (1), pp. 29-37.