Zobrazeno 1 - 10
of 160
pro vyhledávání: '"NIH Undiagnosed Diseases Program"'
Autor:
Brudno, Michael, Girdea, Marta, Dumitriu, Sergiu, Buske, Orion, Köhler, Sebastian, Robinson, Peter N., Brookes, Andrew J., Boycott, Kym, Boerkoel, Cornelius F., Gahl, William A., Canadian CARE For RARE Consortium (FORGE), NIH Undiagnosed Diseases Program
The availability of low-cost genome sequencing has allowed for the identification of the molecular cause of hundreds of rare genetic disorders. Solved disorders, however, only represent the “tip of the iceberg”. Because the discovery of disease-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb091a34c7a88d85131907e01c52793a
Autor:
Sharma P; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. sharmap@nih.gov., McFadden JR; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Frost FG; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Markello TC; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA., Introne WJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Publikováno v:
Human genetics [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1445-1457. Date of Electronic Publication: 2024 Oct 25.
Autor:
Roychaudhury A; Department of Biology, Chungnam National University, Daejeon, South Korea., Lee YR; Department of Biology, Chungnam National University, Daejeon, South Korea., Choi TI; Department of Biology, Chungnam National University, Daejeon, South Korea., Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK., Khan TN; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Yousaf H; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Skinner C; Greenwood Genetic Center, Greenwood, SC, USA., Maconachie G; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK.; Division of Ophthalmology and Orthoptics, Health Science School, University of Sheffield, Sheffield, UK., Crosier M; Human Developmental Biology Resource, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Horak H; Department of Neurology, University of Arizona, Tucson, AZ, USA., Constantinescu CS; Academic Unit of Mental Health and Clinical Neuroscience, University of Nottingham, Nottingham, UK.; Cooper Neurological Institute and Cooper Medical School of Rowan University, Camden, NJ, USA., Kim TY; Department of Biology, Chungnam National University, Daejeon, South Korea., Lee KH; Department of Biology, Chungnam National University, Daejeon, South Korea., Kyung JJ; Department of Biology, Chungnam National University, Daejeon, South Korea., Wang T; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Ku B; Disease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, South Korea., Chodirker BN; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Hammer MF; BIO5 Institute, University of Arizona, Tucson, AZ, USA., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK.; Cooper Neurological Institute and Cooper Medical School of Rowan University, Camden, NJ, USA., Norton WHJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Gerlai R; Department of Psychology, University of Toronto Mississauga, Mississauga, ON, Canada., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Graziano C; Medical Genetics Unit, AUSL Romagna, Cesena, Italy., Pippucci T; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Iovino E; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Montanari F; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Severi G; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Toro C; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA., Boerkoel CF; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA., Cha HS; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea., Choi CY; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea., Kim S; Department of Microbiology & Molecular Biology, Chungnam National University, Daejeon, South Korea., Yoon JH; Department of Oncology Science, University of Oklahoma, Oklahoma City, OK, USA., Gilmore K; Division of Maternal Fetal Medicine, Department of Ob/Gyn, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Vora NL; Division of Maternal Fetal Medicine, Department of Ob/Gyn, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Chudley AE; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Schwartz CE; Greenwood Genetic Center, Greenwood, SC, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA., Kim CH; Department of Biology, Chungnam National University, Daejeon, South Korea.
Publikováno v:
Annals of neurology [Ann Neurol] 2024 Nov; Vol. 96 (5), pp. 914-931. Date of Electronic Publication: 2024 Jul 29.
Autor:
Sabir MS; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK., Leoyklang P; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hackbarth ME; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pak E; Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Dutra A; Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tait R; ALSTEM, Inc., Richmond, CA, USA., Pollard L; Biochemical Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, USA., Adams DR; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gahl WA; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Oct 22; Vol. 81, pp. 103600. Date of Electronic Publication: 2024 Oct 22.
Autor:
Saettini F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. f.saettini@gmail.com., Guerra F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom., Mauri M; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Salter CG; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Adam MP; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Adams D; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK., Barredo E; Neuropediatric Department, Hospital Universitario Gregorio Marañón, Madrid, Spain., Bhatia S; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Borkhardt A; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Bugarin C; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Chinello C; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK., D'Souza P; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Denti V; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Fazio G; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Giuliani S; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Kuehn HS; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Amel H; Pediatric Allergy and Immunology Department, Sidra Medicine, Doha, Qatar., Elmi A; Research Branch, Sidra Medicine, Doha, Qatar., Lo B; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Malighetti F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Mandrile G; Department of Medical Sciences, University of Turin, Turin, Italy., Martín-Nalda A; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Mefford HC; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Moratto D; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy., Emam Mousavi F; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Nelson Z; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA, USA., Gutiérrez-Solana LG; Hospital Infantil Niño Jesús, Madrid, Madrid, Spain., Macnamara E; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Michaud V; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, Aquitaine, France. INSERM U1211, Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Aquitaine, Talence, France., O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pagani L; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Pavinato L; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Santamaria PV; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Quadri M; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Raspall-Chaure M; Department of Paediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Rebellato S; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Rosenzweig SD; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Roubertie A; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U 1298, Montpellier, France., Holzinger D; Department of Pediatric Haematology-Oncology, Pediatrics III, University of Duisburg-Essen, Essen, Germany.; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany., Deal C; Division of Pediatric Allergy and Immunology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Vockley CW; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Savino AM; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., L Stoddard J; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Uhlig HH; Translational Gastroenterology Unit, NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, University of Oxford, Oxfordshire, UK.; Department of Paediatrics, University of Oxford, Oxfordshire, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain., Magni F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Paglia G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Cazzaniga G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Piazza R; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Barberis M; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Biondi A; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2024 Sep 23; Vol. 45 (1), pp. 15. Date of Electronic Publication: 2024 Sep 23.
Autor:
Ochoa S; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Hsu AP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD 20892, USA., Kumar D; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Chauss D; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., van Hamburg JP; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., van Laar GG; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., Oikonomou V; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Ganesan S; Biological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD 20892, USA., Ferré EMN; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Schmitt MM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., DiMaggio T; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Barber P; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Constantine GM; Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, MD 20892, USA., Rosen LB; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Auwaerter PG; Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Gandhi B; Division of Internal Medicine-Pediatrics, Department of Medicine, Medstar Georgetown University Hospital, Washington, DC 20007, USA., Miller JL; Division of Pediatric Endocrinology, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Eisenberg R; Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA., Rubinstein A; Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA.; Department of Microbiology and Immunology, Montefiore Medical Center, Bronx, NY 10467, USA., Schussler E; Division of Pulmonary, Allergy, and Immunology, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10065, USA., Balliu E; Department of Endocrinology, Diabetes and Metabolism, Lakeland Regional Health Grasslands Campus, Lakeland, FL 33803, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.; Undiagnosed Diseases Network, Duke University Medical Center, Durham, NC 27710, USA., Neth O; Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, 'Red de Investigación Translacional en Infectología Pediátrica,' Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain., Olbrich P; Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, 'Red de Investigación Translacional en Infectología Pediátrica,' Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain.; Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Seville 41004, Spain., Le KM; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Mamia N; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Laakso S; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.; Folkhälsan Research Center, Helsinki 00250, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland., Nevalainen PI; JJP Biologics, Warsaw 00-728, Poland., Grönholm J; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Seppänen MRJ; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.; European Reference Network Rare Immunodeficiency Autoinflammatory and Autoimmune Diseases Network (ERN RITA) Core Center, Utrecht, 3584 CX, Netherlands., Boon L; JJP Biologics, Warsaw 00-728, Poland., Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Franco LM; Functional Immunogenomics Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA., Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Winer KK; Pediatric Growth and Nutrition Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA., Ghosh R; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Seifert BA; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Walkiewicz M; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Zhou Q; Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Askentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Gahl W; Medical Genetics Branch, National Human Genome Research Institute, and NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA., Dalgard CL; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.; American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA., Perera L; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA., Afzali B; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Tas SW; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Lionakis MS; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Publikováno v:
Science translational medicine [Sci Transl Med] 2024 Sep 18; Vol. 16 (765), pp. eadk0845. Date of Electronic Publication: 2024 Sep 18.
Autor:
Cinar R; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Basu A; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Arif M; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA.; Laboratory of Cardiovascular Physiology and Tissue Injury, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Park JK; Laboratory of Physiologic Studies, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD 20852, USA., Zawatsky CN; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Zuo BLG; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Zuo MXG; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., O'Brien KJ; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Behan M; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Introne W; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Iyer MR; Section on Medicinal Chemistry, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Gahl WA; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Malicdan MCV; NIH Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Gochuico BR; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 17. Date of Electronic Publication: 2024 May 17.
Autor:
Sharma P; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Serra-Vinardell J; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Publikováno v:
Neural regeneration research [Neural Regen Res] 2024 May; Vol. 19 (5), pp. 957-958.
Autor:
Vishnu N; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Venkatesan M; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Madaris TR; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Venkateswaran MK; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Stanley K; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Ramachandran K; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Chidambaram A; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Madesh AK; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Yang W; Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Nair J; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Narkunan M; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Muthukumar T; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Karanam V; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Joseph LC; Department of Medicine, College of Physicians and Surgeons of Columbia University, 650 W 168 Street, New York, NY 10032, USA., Le A; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Osidele A; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Aslam MI; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA., Morrow JP; Department of Medicine, College of Physicians and Surgeons of Columbia University, 650 W 168 Street, New York, NY 10032, USA., Malicdan MC; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA., Stathopulos PB; Department of Physiology and Pharmacology, Western University, London, ON N6A 5C1, Canada., Madesh M; Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA; Center for Mitochondrial Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA. Electronic address: muniswamy@uthscsa.edu.
Publikováno v:
Molecular cell [Mol Cell] 2024 Apr 04; Vol. 84 (7), pp. 1321-1337.e11. Date of Electronic Publication: 2024 Mar 20.
Autor:
Franchino CA; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Brughera M; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Baderna V; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., De Ritis D; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Rocco A; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Seneca S; Medical Center of Genetic, UZ-VUB, Vrije Universiteit Brussels, 1090 Brussels Jette, Belgium., Regal L; Pediatric Neurology and Metabolism, UZ-VUB, Vrije Universiteit Brussels, 1090 Brussels Jette, Belgium., Podini P; Experimental Neuropathology Unit, Division of Neuroscience and Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., D'Antonio M; Biology of Myelin Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Toro C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Quattrini A; Experimental Neuropathology Unit, Division of Neuroscience and Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Scalais E; Department of Pediatric, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, L1210 Luxembourg, Luxembourg., Maltecca F; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.; Università Vita-Salute San Raffaele, 20132 Milan, Italy.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Mar 01; Vol. 147 (3), pp. 1043-1056.