ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families

Autor: Wc, Nichols, Vh, Terry, Ma, Wheatley, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, Nb, Bosch, Ruiz-Saez A, Torres A, Seligsohn U

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3342a264908ec803ca38c1dace17d327
http://europepmc.org/abstract/med/10090935

Equivalency of Multiple Biomarkers to Clinical Pulmonary Arterial Hypertension Survival Risk Models.

Autor: Griffiths M; Blalock-Taussig-Thomas Congenital Heart Center, Department of Pediatrics, Johns Hopkins University, Baltimore, MD; Division of Pediatric Cardiology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX. Electronic address: Megan.Griffiths@UTSouthwestern.edu., Simpson CE; Division of Pulmonary and Critical Care Medicine, Johns Hopkins University, Baltimore, MD., Yang J; Blalock-Taussig-Thomas Congenital Heart Center, Department of Pediatrics, Johns Hopkins University, Baltimore, MD., Vaidya D; Department of Internal Medicine, Johns Hopkins University, Baltimore, MD., Nies MK; Blalock-Taussig-Thomas Congenital Heart Center, Department of Pediatrics, Johns Hopkins University, Baltimore, MD., Brandal S; Blalock-Taussig-Thomas Congenital Heart Center, Department of Pediatrics, Johns Hopkins University, Baltimore, MD., Damico R; Division of Pulmonary and Critical Care Medicine, Johns Hopkins University, Baltimore, MD., Hassoun P; Division of Pulmonary and Critical Care Medicine, Johns Hopkins University, Baltimore, MD., Ivy DD; Division of Pediatric Cardiology, Children's Hospital Colorado, Denver, CO., Austin ED; Division of Allergy, Immunology, and Pulmonary Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN., Pauciulo MW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Lutz KA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Martin LJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Rosenzweig EB; Division of Pediatric Cardiology, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Benza RL; Division of Cardiology, Department of Internal Medicine, The Ohio State University, Columbus, OH., Nichols WC; Division of Human Genetics, Cincinnati Children's Hospital Medical Center; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Manlhiot C; Blalock-Taussig-Thomas Congenital Heart Center, Department of Pediatrics, Johns Hopkins University, Baltimore, MD., Everett AD; Blalock-Taussig-Thomas Congenital Heart Center, Department of Pediatrics, Johns Hopkins University, Baltimore, MD.

Publikováno v: Chest [Chest] 2024 Dec; Vol. 166 (6), pp. 1511-1531. Date of Electronic Publication: 2024 Aug 16.

Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension.

Autor: Hong J; Division of Pulmonary and Critical Care Medicine (J.H., B.W., A.B., L.L.L., A.V., R.S., R.C.), University of California, Los Angeles., Medzikovic L; Departments of Anesthesiology & Perioperative Medicine (L.M., W.S., G.R., L.A., M.L., S.U., M. Eghbali), University of California, Los Angeles., Sun W; Departments of Anesthesiology & Perioperative Medicine (L.M., W.S., G.R., L.A., M.L., S.U., M. Eghbali), University of California, Los Angeles., Wong B; Division of Pulmonary and Critical Care Medicine (J.H., B.W., A.B., L.L.L., A.V., R.S., R.C.), University of California, Los Angeles., Ruffenach G; Departments of Anesthesiology & Perioperative Medicine (L.M., W.S., G.R., L.A., M.L., S.U., M. Eghbali), University of California, Los Angeles., Rhodes CJ; National Heart and Lung Institute, Imperial College London, UK (C.J.R., M.R.W.)., Brownstein A; Division of Pulmonary and Critical Care Medicine (J.H., B.W., A.B., L.L.L., A.V., R.S., R.C.), University of California, Los Angeles., Liang LL; Division of Pulmonary and Critical Care Medicine (J.H., B.W., A.B., L.L.L., A.V., R.S., R.C.), University of California, Los Angeles., Aryan L; Departments of Anesthesiology & Perioperative Medicine (L.M., W.S., G.R., L.A., M.L., S.U., M. Eghbali), University of California, Los Angeles., Li M; Departments of Anesthesiology & Perioperative Medicine (L.M., W.S., G.R., L.A., M.L., S.U., M. Eghbali), University of California, Los Angeles., Vadgama A; Division of Pulmonary and Critical Care Medicine (J.H., B.W., A.B., L.L.L., A.V., R.S., R.C.), University of California, Los Angeles., Kurt Z; Northumbria University, Newcastle Upon Tyne, UK (Z.K.)., Schwantes-An TH; Department of Medicine, Indiana University, Indianapolis (T.-H.S.-A., E.A.M., M.A.A., A.A.D., R.S.S.)., Mickler EA; Department of Medicine, Indiana University, Indianapolis (T.-H.S.-A., E.A.M., M.A.A., A.A.D., R.S.S.)., Gräf S; Department of Medicine, Victor Phillip Dahdaleh Heart & Lung Research Institute, University of Cambridge, UK (S.G., N.W.M.)., Eyries M; Hôpital Pitié-Salpêtrière, AP-HP, Département de Génétique, Paris, France (M. Eyries)., Lutz KA; Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, OH (K.A.L., M.W.P., W.C.N.)., Pauciulo MW; Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, OH (K.A.L., M.W.P., W.C.N.)., Trembath RC; Department of Medical & Molecular Genetics, Faculty of Life Sciences & Medicine, King's College London, UK (R.C.T.)., Perros F; CarMeN Laboratory, INSERM U1060, INRAE U1397, Université Claude Bernard Lyon 1, Pierre-Bénite, France (F.P.)., Montani D; AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France (D.M.).; Université Paris-Saclay, Le Kremlin Bicêtre, France (D.M.).; UMR_S 999, Université Paris-Saclay, INSERM, Groupe Hospitalier Marie-Lannelongue-Saint Joseph, Le Plessis-Robinson, France (D.M.)., Morrell NW; Department of Medicine, Victor Phillip Dahdaleh Heart & Lung Research Institute, University of Cambridge, UK (S.G., N.W.M.)., Soubrier F; UMR_S 1166, Sorbonne Université, INSERM, Paris, France (F.S.)., Wilkins MR; National Heart and Lung Institute, Imperial College London, UK (C.J.R., M.R.W.)., Nichols WC; Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, OH (K.A.L., M.W.P., W.C.N.)., Aldred MA; Department of Medicine, Indiana University, Indianapolis (T.-H.S.-A., E.A.M., M.A.A., A.A.D., R.S.S.)., Desai AA; Department of Medicine, Indiana University, Indianapolis (T.-H.S.-A., E.A.M., M.A.A., A.A.D., R.S.S.)., Trégouët DA; Bordeaux Population Health Research Center, INSERM, Université Bordeaux, France (D.-A.T.)., Umar S; Departments of Anesthesiology & Perioperative Medicine (L.M., W.S., G.R., L.A., M.L., S.U., M. Eghbali), University of California, Los Angeles., Saggar R; Division of Pulmonary and Critical Care Medicine (J.H., B.W., A.B., L.L.L., A.V., R.S., R.C.), University of California, Los Angeles., Channick R; Division of Pulmonary and Critical Care Medicine (J.H., B.W., A.B., L.L.L., A.V., R.S., R.C.), University of California, Los Angeles., Tuder RM; Division of Pulmonary Sciences and Critical Care Medicine, Department of Medicine, University of Colorado, Aurora (R.M.T.)., Geraci MW; Department of Medicine, University of Pittsburgh, PA (M.W.G.)., Stearman RS; Department of Medicine, Indiana University, Indianapolis (T.-H.S.-A., E.A.M., M.A.A., A.A.D., R.S.S.)., Yang X; Integrative Biology and Physiology (X.Y.), University of California, Los Angeles., Eghbali M; Departments of Anesthesiology & Perioperative Medicine (L.M., W.S., G.R., L.A., M.L., S.U., M. Eghbali), University of California, Los Angeles.

Publikováno v: Circulation [Circulation] 2024 Oct 15; Vol. 150 (16), pp. 1268-1287. Date of Electronic Publication: 2024 Aug 21.

Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension.

Autor: Tang H; State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, Department of Clinical Laboratory, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China (H.T., C.B., S.L.)., Gupta A; Department of Medicine and Arizona Health Sciences Center, Department of Cellular and Molecular Medicine, College of Medicine-Tucson, University of Arizona (A.G., G.G., N.A.W.)., Morrisroe SA; Krannert Cardiovascular Research Center (S.A.M., S.S., Y. Shi, S.R.N., S.C.-Y., R.D., A.A.D.), Indiana University, Indianapolis., Bao C; State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, Department of Clinical Laboratory, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China (H.T., C.B., S.L.).; College of Veterinary Medicine, Northwest A & F University, Yangling, China (C.B., Y. Sun, A.L., Y. Shi)., Schwantes-An TH; Department of Medicine, and Departments of Medical & Molecular Genetics (T.-H.S.-A.), Indiana University, Indianapolis., Gupta G; Department of Medicine and Arizona Health Sciences Center, Department of Cellular and Molecular Medicine, College of Medicine-Tucson, University of Arizona (A.G., G.G., N.A.W.)., Liang S; State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, Department of Clinical Laboratory, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China (H.T., C.B., S.L.)., Sun Y; College of Veterinary Medicine, Northwest A & F University, Yangling, China (C.B., Y. Sun, A.L., Y. Shi)., Chu A; Department of Echocardiography, Gansu Provincial Hospital, Lanzhou, China (A.C.)., Luo A; College of Veterinary Medicine, Northwest A & F University, Yangling, China (C.B., Y. Sun, A.L., Y. Shi).; Institute of Zoology, Guangdong Academy of Sciences, Guangzhou, China (A.L.)., Ramamoorthi Elangovan V; Department of Pediatrics, University of Michigan, Ann Arbor (V.R.E.)., Sangam S; Krannert Cardiovascular Research Center (S.A.M., S.S., Y. Shi, S.R.N., S.C.-Y., R.D., A.A.D.), Indiana University, Indianapolis., Shi Y; Krannert Cardiovascular Research Center (S.A.M., S.S., Y. Shi, S.R.N., S.C.-Y., R.D., A.A.D.), Indiana University, Indianapolis.; College of Veterinary Medicine, Northwest A & F University, Yangling, China (C.B., Y. Sun, A.L., Y. Shi)., Naidu SR; Krannert Cardiovascular Research Center (S.A.M., S.S., Y. Shi, S.R.N., S.C.-Y., R.D., A.A.D.), Indiana University, Indianapolis., Jheng JR; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine (J.-R.J., Y.-C.L.), Indiana University, Indianapolis., Ciftci-Yilmaz S; Krannert Cardiovascular Research Center (S.A.M., S.S., Y. Shi, S.R.N., S.C.-Y., R.D., A.A.D.), Indiana University, Indianapolis., Warfel NA; Department of Medicine and Arizona Health Sciences Center, Department of Cellular and Molecular Medicine, College of Medicine-Tucson, University of Arizona (A.G., G.G., N.A.W.)., Hecker L; Department of Medicine, Emory University, and Atlanta VA Healthcare System, GA (L.H.)., Mitra S; Department of Obstetrics and Gynecology (S.M.), Department of Medicine, Washington University in St. Louis and John Cochran VA Hospital, St Louis, MO (A.J.)., Coleman AW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, OH (A.W.C., K.A.L., M.W.P., W.C.N.)., Lutz KA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, OH (A.W.C., K.A.L., M.W.P., W.C.N.)., Pauciulo MW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, OH (A.W.C., K.A.L., M.W.P., W.C.N.)., Lai YC; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine (J.-R.J., Y.-C.L.), Indiana University, Indianapolis., Javaheri A; Department of Obstetrics and Gynecology (S.M.), Department of Medicine, Washington University in St. Louis and John Cochran VA Hospital, St Louis, MO (A.J.)., Dharmakumar R; Krannert Cardiovascular Research Center (S.A.M., S.S., Y. Shi, S.R.N., S.C.-Y., R.D., A.A.D.), Indiana University, Indianapolis., Wu WH; Department of Medicine, Institut Universitaire de Cardiologie et de Pneumologie de Québec, Université Laval, Quebec, Canada (W.-H.W., S.B.-B., O.B., S.B.)., Flaherty DP; Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, Lafayette, IN (D.P.F.)., Karnes JH; Department of Pharmacy Practice and Science, R Ken Coit College of Pharmacy, University of Arizona, Tucson (J.H.K.)., Breuils-Bonnet S; Department of Medicine, Institut Universitaire de Cardiologie et de Pneumologie de Québec, Université Laval, Quebec, Canada (W.-H.W., S.B.-B., O.B., S.B.)., Boucherat O; Department of Medicine, Institut Universitaire de Cardiologie et de Pneumologie de Québec, Université Laval, Quebec, Canada (W.-H.W., S.B.-B., O.B., S.B.)., Bonnet S; Department of Medicine, Institut Universitaire de Cardiologie et de Pneumologie de Québec, Université Laval, Quebec, Canada (W.-H.W., S.B.-B., O.B., S.B.)., Yuan JX; Department of Medicine, University of California, San Diego, La Jolla (J.X.-J.Y.)., Jacobson JR; Department of Medicine, University of Illinois at Chicago (J.R.J.)., Duarte JD; Center for Pharmacogenomics and Precision Medicine, Department of Pharmacotherapy and Translational Research, University of Florida, Gainesville (J.D.D.)., Nichols WC; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, OH (A.W.C., K.A.L., M.W.P., W.C.N.)., Garcia JGN; The Herbert Wertheim UF Scripps Institute for Biomedical Innovation and Technology, University of Florida, Jupiter (J.G.N.G.)., Desai AA; Krannert Cardiovascular Research Center (S.A.M., S.S., Y. Shi, S.R.N., S.C.-Y., R.D., A.A.D.), Indiana University, Indianapolis.

Publikováno v: Circulation [Circulation] 2024 Jul 23; Vol. 150 (4), pp. 302-316. Date of Electronic Publication: 2024 May 02.

Genetic regulation and targeted reversal of lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension.

Autor: Harvey LD, Alotaibi M, Kim HJ, Tai YY, Tang Y, Sun W, El Khoury W, Woodcock CC, Aaraj YA, St Croix CM, Stolz DB, Lee J, Cheng MH, Schwantes-An TH, Desai AA, Pauciulo MW, Nichols WC, Webb A, Lafyatis R, Nouraie M, Wu H, McDonald JG, Chauvet C, Cheng S, Bahar I, Bertero T, Benza RL, Jain M, Chan SY

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Mar 01. Date of Electronic Publication: 2024 Mar 01.