McSweeney MD; Inhalon Biopharma, Research Triangle Park, NC, 27707, USA. Alnajjar S; Department of Comparative Biomedical Sciences, School of Veterinary Medicine, Faculty of Health and Medical Sciences, University of Surrey, Guildford, GU2 7AL, UK. SchaeferAM; Division of Pharmacoengineering and Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina-Chapel Hill, Chapel Hill, NC, 27599, USA. Richardson Z; Inhalon Biopharma, Research Triangle Park, NC, 27707, USA. Wolf W; Division of Pharmacoengineering and Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina-Chapel Hill, Chapel Hill, NC, 27599, USA. Stewart I; RTI International, Research Triangle Park, NC, 27709, USA. Sriboonyapirat P; Oregon State University, Corvallis, Oregon, 97331, USA. McCallen J; Division of Pharmacoengineering and Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina-Chapel Hill, Chapel Hill, NC, 27599, USA. Farmer E; Inhalon Biopharma, Research Triangle Park, NC, 27707, USA. Nzati B; Inhalon Biopharma, Research Triangle Park, NC, 27707, USA. Lord S; Inhalon Biopharma, Research Triangle Park, NC, 27707, USA. Farrer B; Inhalon Biopharma, Research Triangle Park, NC, 27707, USA. Moench TR; Inhalon Biopharma, Research Triangle Park, NC, 27707, USA. Kumar PA; Department of Anesthesiology, School of Medicine, University of North Carolina, Chapel Hill, NC, 27599, USA.; Outcomes Research Consortium, Cleveland, OH, 44195, USA. Arora H; Department of Anesthesiology, University of Mississippi Medical Center, Jackson, MS, 39216, USA. Pickles RJ; Department of Microbiology & Immunology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. Hickey AJ; RTI International, Research Triangle Park, NC, 27709, USA. Ackermann M; USDA/ARS-National Animal Disease Center, Ames, IA, 50010, USA. Lai SK; Inhalon Biopharma, Research Triangle Park, NC, 27707, USA.; Division of Pharmacoengineering and Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina-Chapel Hill, Chapel Hill, NC, 27599, USA.; Department of Microbiology & Immunology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
Is Genetic Testing Indicated in a Pediatric Patient with Unilateral Hearing Loss or Single-Sided Deafness?
Autorzy:
Kocharyan A; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine University of Iowa, Iowa City, Iowa, USA. SchaeferAM; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine University of Iowa, Iowa City, Iowa, USA.; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, Iowa, USA. Smith RJH; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine University of Iowa, Iowa City, Iowa, USA.; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, Iowa, USA. Hansen MR; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine University of Iowa, Iowa City, Iowa, USA.
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Źródło:
The Laryngoscope [Laryngoscope] 2023 Sep; Vol. 133 (9), pp. 2042-2043. Date of Electronic Publication: 2023 Apr 25.
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Autorzy:
Tollefson MR; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA.; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. Gogal RA; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA. Weaver AM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. SchaeferAM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. Marini RJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. Wang D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. Weaver AE; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. Casavant TL; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA. Braun TA; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA. Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. . Schnieders MJ; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA. .; Department of Biochemistry and Molecular Biology, University of Iowa, Iowa City, IA, 52242, USA. .
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Źródło:
Human genetics [Hum Genet] 2023 Jun; Vol. 142 (6), pp. 819-834. Date of Electronic Publication: 2023 Apr 22.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Autorzy:
Erdinc D; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. Rodríguez-Luis A; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. Fassad MR; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. Mackenzie S; The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Watson CM; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK. Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. Xie X; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. Menger KE; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. Sergeant K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. Craig K; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Hopton S; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Falkous G; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Poulton J; Nuffield Department of Women's & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK. Garcia-Moreno H; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK. Giunti P; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK. de Moura Aschoff CA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. Morales Saute JA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Kirby AJ; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC, USA. Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Wolfe L; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Novacic D; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Barel O; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel Hashomer, Israel. Anikster Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. McFarland R; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. Gorman GS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. SchaeferAM; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden. Taylor RW; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. Nicholls TJ; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy.
Autorzy:
Elwan M; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK. SchaeferAM; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK. Craig K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK. Hopton S; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK. Falkous G; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK. Blakely EL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK. Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle University, Newcastle upon Tyne, UK. Warren N; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
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Źródło:
BMJ neurology open [BMJ Neurol Open] 2022 Dec 08; Vol. 4 (2), pp. e000352. Date of Electronic Publication: 2022 Dec 08 (Print Publication: 2022).
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Autorzy:
Folland C; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia. Johnsen R; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia. Botero Gomez A; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia. Trajanoski D; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia. Davis MR; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia. Moore U; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK. Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK. Barresi R; IRCCS San Camillo Hospital, Venice, Italy. Guglieri M; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK. Hayhurst H; Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. SchaeferAM; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Laing NG; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia. Lamont PJ; Neurogenetic Unit, Royal Perth Hospital, Perth, Western Australia, Australia. Ravenscroft G; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
Measurement of Microcystin Activity in Human Plasma Using Immunocapture and Protein Phosphatase Inhibition Assay.
Autorzy:
Cunningham BR; Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA. Wharton RE; Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA. Lee C; Division of Foodborne, Waterborne, and Environmental Diseases, National Center Emerging and Zoonotic Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA. Mojica MA; Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA. Krajewski LC; Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA. Gordon SC; Christine E. Lynn College of Nursing, Florida Atlantic University, Boca Raton, FL 33431, USA. SchaeferAM; Abt Associates Inc., Fort Myers, FL 33916, USA. Johnson RC; Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA. Hamelin EI; Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.
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Źródło:
Toxins [Toxins (Basel)] 2022 Nov 21; Vol. 14 (11). Date of Electronic Publication: 2022 Nov 21.
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