المؤلفون: Aly, DM, Dwivedi, OP, Prasad, RB, Karajamaki, A, Hjort, R, Thangam, M, Akerlund, M, Mahajan, A, Udler, MS, Florez, JC, McCarthy, MI, Center, RG, Brosnan, J, Melander, O, Carlsson, S, Hansson, O, Tuomi, T, Groop, L, Ahlqvist, E

المصدر: Nature genetics. 53(11):1534-1542

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:148379480

المؤلفون: Immadisetty K; Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA., Fang X; Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA., Ramon GS; Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA., Hartle CM; Geisinger Medical Center, Danville, PA, USA., McCoy TP; University of North Carolina, Greensboro, USA., Center RG; Geisinger Medical Center, Danville, PA, USA., Mirshahi T; Geisinger Medical Center, Danville, PA, USA., Delisle BP; University of Kentucky, Lexington, KY, USA., Kekenes-Huskey PM; Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA. Electronic address: pkekeneshuskey@luc.edu.

المصدر: Journal of molecular and cellular cardiology [J Mol Cell Cardiol] 2023 Jul; Vol. 180, pp. 69-83. Date of Electronic Publication: 2023 May 13.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0262322 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-8584 (Electronic) Linking ISSN: 00222828 NLM ISO Abbreviation: J Mol Cell Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: KCNQ1 Potassium Channel*/genetics , Long QT Syndrome*/diagnosis , Long QT Syndrome*/genetics , Machine Learning*, Humans ; Mutation, Missense ; Phenotype

المؤلفون: Lynch MT; Department of Medicine Baltimore, University of Maryland School of Medicine, Maryland, MD, USA. mlynch42@jhu.edu.; University of Maryland School of Medicine, Program for Personalized and Genomic Medicine, Baltimore, MD, USA. mlynch42@jhu.edu., Maloney KA; Department of Medicine Baltimore, University of Maryland School of Medicine, Maryland, MD, USA.; University of Maryland School of Medicine, Program for Personalized and Genomic Medicine, Baltimore, MD, USA., Xu H; Department of Medicine Baltimore, University of Maryland School of Medicine, Maryland, MD, USA.; University of Maryland School of Medicine, Program for Personalized and Genomic Medicine, Baltimore, MD, USA., Perry JA; Department of Medicine Baltimore, University of Maryland School of Medicine, Maryland, MD, USA.; University of Maryland School of Medicine, Program for Personalized and Genomic Medicine, Baltimore, MD, USA., Center RG; Regeneron Genetics Center LLC, Tarrytown, NY, USA., Shuldiner AR; Regeneron Genetics Center LLC, Tarrytown, NY, USA., Mitchell BD; Department of Medicine Baltimore, University of Maryland School of Medicine, Maryland, MD, USA.; University of Maryland School of Medicine, Program for Personalized and Genomic Medicine, Baltimore, MD, USA.; Baltimore Veterans Administration Medical Center Geriatrics Research and Education Clinical Center, Baltimore, MD, USA.

المصدر: BMC genomics [BMC Genomics] 2023 Mar 20; Vol. 24 (1), pp. 134. Date of Electronic Publication: 2023 Mar 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Amish*/genetics , Multifactorial Inheritance*, Humans ; Polymorphism, Single Nucleotide ; Genome ; Homozygote ; Inbreeding

المؤلفون: Zaigham S; Department of Clinical Sciences Malmö, Lund University, Malmo, Sweden. suneela.zaigham@med.lu.se.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden. suneela.zaigham@med.lu.se., Gonçalves I; Department of Clinical Sciences Malmö, Lund University, Malmo, Sweden.; Department of Cardiology, Skåne University Hospital, Malmo, Sweden., Center RG; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA., Engström G; Department of Clinical Sciences Malmö, Lund University, Malmo, Sweden., Sun J; Department of Clinical Sciences Malmö, Lund University, Malmo, Sweden.

المصدر: Cardiovascular diabetology [Cardiovasc Diabetol] 2022 Nov 03; Vol. 21 (1), pp. 230. Date of Electronic Publication: 2022 Nov 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101147637 Publication Model: Electronic Cited Medium: Internet ISSN: 1475-2840 (Electronic) Linking ISSN: 14752840 NLM ISO Abbreviation: Cardiovasc Diabetol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Diabetes Mellitus*, Middle Aged ; Adult ; Humans ; Risk Factors ; Lung ; Outcome Assessment, Health Care

المؤلفون: Strowd RE; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Strauss L; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Graham R; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Dodenhoff K; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Schreiber A; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Thomson S; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Ambrosini A; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Thurman AM; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Olszewski C; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Smith LD; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Cartwright MS; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Guzik A; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Wells RE; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Munger Clary H; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Malone J; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Ezzeddine M; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Duncan PW; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC., Tegeler CH; Wake Forest School of Medicine (RES, LS, KD, AS, ST, AA, AMT, CO, LDS, MSC, HMC, JM, ME, CT); and Wake Forest Baptist Medical Center (RG, AG, RW, PD), Winston-Salem, NC.

المصدر: Neurology. Clinical practice [Neurol Clin Pract] 2021 Jun; Vol. 11 (3), pp. 232-241.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE

المؤلفون: Bajaj A; Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ihegword A; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Qiu C; Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Renal Electrolyte and Hypertension Division, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Small AM; Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Department of Medicine, Yale-New Haven Hospital, New Haven, Connecticut, USA., Wei WQ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Feng Q; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Kember RL; Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA; VISN 4 Mental Illness Research, Education, and Clinical Center, Corporal Michael Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania, USA., Risman M; Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bloom RD; Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Renal Electrolyte and Hypertension Division, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Birtwell DL; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Williams H; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Shaffer CM; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Chen J; Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Center RG; Regeneron Genetics Center, Tarrytown, New York, USA., Denny JC; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Rader DJ; Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Stein CM; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA; Department of Pharmacology, Vanderbilt University, Nashville, Tennessee, USA., Damrauer SM; Department of Surgery, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Department of Surgery, Corporal Michael Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania, USA. Electronic address: scott.damrauer@uphs.upenn.edu., Susztak K; Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Renal Electrolyte and Hypertension Division, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: ksusztak@pennmedicine.upenn.edu.

المصدر: Kidney international [Kidney Int] 2020 May; Vol. 97 (5), pp. 1032-1041. Date of Electronic Publication: 2020 Feb 17.

نوع المنشور: Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Apolipoprotein L1*/genetics , Kidney*, Creatinine ; Genetic Predisposition to Disease ; Genotype ; Glomerular Filtration Rate ; Humans ; Risk Factors

المؤلفون: Stévenin V; Institut Pasteur, Dynamics of Host-Pathogen Interactions Unit, 25 Rue du Dr. Roux, Paris, France., Chang YY; Institut Pasteur, Dynamics of Host-Pathogen Interactions Unit, 25 Rue du Dr. Roux, Paris, France., Le Toquin Y; Institut Pasteur, Dynamics of Host-Pathogen Interactions Unit, 25 Rue du Dr. Roux, Paris, France., Duchateau M; Institut Pasteur, Plateforme Protéomique, Unité de Spectrométrie de Masse pour la Biologie, C2RT, USR 2000 CNRS, Paris, France., Gianetto QG; Institut Pasteur, Plateforme Protéomique, Unité de Spectrométrie de Masse pour la Biologie, C2RT, USR 2000 CNRS, Paris, France; Institut Pasteur, Bioinformatics and Biostatistics HUB, C3BI, USR CNRS 3756, Paris, France., Luk CH; Institut Pasteur, Dynamics of Host-Pathogen Interactions Unit, 25 Rue du Dr. Roux, Paris, France., Salles A; Institut Pasteur, UtechS Photonic BioImaging PBI (Imagopole), Centre de Recherche et de Ressources Technologiques C2RT, Paris, France., Sohst V; Research Center Borstel, Leibniz Lung Center, RG Microbial Interface Biology, Parkallee 22, 23845 Borstel, Germany., Matondo M; Institut Pasteur, Plateforme Protéomique, Unité de Spectrométrie de Masse pour la Biologie, C2RT, USR 2000 CNRS, Paris, France., Reiling N; Research Center Borstel, Leibniz Lung Center, RG Microbial Interface Biology, Parkallee 22, 23845 Borstel, Germany; German Center for Infection Research (DZIF), Partner Site Hamburg-Lübeck-Borstel-Riems, Borstel, Germany., Enninga J; Institut Pasteur, Dynamics of Host-Pathogen Interactions Unit, 25 Rue du Dr. Roux, Paris, France. Electronic address: jost.enninga@pasteur.fr.

المصدر: Cell reports [Cell Rep] 2019 Dec 17; Vol. 29 (12), pp. 3958-3973.e7.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Cytosol/*pathology , Qa-SNARE Proteins/*metabolism , Salmonella Infections/*pathology , Salmonella typhimurium/*growth & development , Synaptosomal-Associated Protein 25/*metabolism , Vacuoles/*pathology, Caco-2 Cells ; Cytosol/metabolism ; Cytosol/microbiology ; HeLa Cells ; Humans ; Qa-SNARE Proteins/genetics ; Salmonella Infections/metabolism ; Salmonella Infections/microbiology ; Salmonella typhimurium/metabolism ; Synaptosomal-Associated Protein 25/genetics ; Vacuoles/metabolism ; Vacuoles/microbiology