cGAS deficient mice display premature aging associated with de-repression of LINE1 elements and inflammation.

Autor: Martinez JC; Translational Biomedical Sciences Program, University of Rochester, NY, 14627, USA.; Department of Biology, University of Rochester, NY, 14627, USA., Morandini F; Department of Biology, University of Rochester, NY, 14627, USA., Fitzgibbons L; Department of Biology, University of Rochester, NY, 14627, USA., Sieczkiewicz N; Department of Biology, University of Rochester, NY, 14627, USA., Bae SJ; Department of Biology, University of Rochester, NY, 14627, USA., Meadow ME; Department of Biology, University of Rochester, NY, 14627, USA., Hillpot E; Department of Biology, University of Rochester, NY, 14627, USA., Cutting J; Department of Biology, University of Rochester, NY, 14627, USA., Paige V; Department of Biology, University of Rochester, NY, 14627, USA., Biashad SA; Department of Biology, University of Rochester, NY, 14627, USA., Simon M; Department of Biology, University of Rochester, NY, 14627, USA., Sedivy J; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, RI, 02912, USA., Seluanov A; Department of Biology, University of Rochester, NY, 14627, USA.; Department of Medicine, University of Rochester, NY, 14627, USA., Gorbunova V; Department of Biology, University of Rochester, NY, 14627, USA.; Department of Medicine, University of Rochester, NY, 14627, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Oct 11. Date of Electronic Publication: 2024 Oct 11.

Assessing the Effectiveness of a Primary Care Provider Office-Based Intervention for Increasing Organ Donor Registration Rates in Two New York State Counties.

Autor: McCabe M; University of Rochester, School of Medicine and Dentistry, Rochester NY, USA., Dokus MK; Department of Surgery, Univesrity of Rochester Medical Center, , Rochester, NY, USA., Ryan NJ; Finger Lakes Donor Recovery Network, Rochester NY, USA., Shi H; University of Rochester, School of Medicine and Dentistry, Rochester NY, USA., James A; Finger Lakes Donor Recovery Network, Rochester NY, USA., Meadow ME; University of Rochester, School of Medicine and Dentistry, Rochester NY, USA., Dolan JG; Department of Public Health Sciences, 12299University of Rochester School of Medicine and Dentistry, Rochester, NY, USA., Veazie P; Department of Public Health Sciences, 12299University of Rochester School of Medicine and Dentistry, Rochester, NY, USA., Judge S; 227713Department of Medicine, University of Rochester Medical Center, Rochester, NY, USA., Orloff M; Department of Surgery, Univesrity of Rochester Medical Center, , Rochester, NY, USA., McIntosh S; Department of Public Health Sciences, 12299University of Rochester School of Medicine and Dentistry, Rochester, NY, USA., Kashyap R; Department of Surgery, Univesrity of Rochester Medical Center, , Rochester, NY, USA.

Publikováno v: Progress in transplantation (Aliso Viejo, Calif.) [Prog Transplant] 2022 Dec; Vol. 32 (4), pp. 292-299. Date of Electronic Publication: 2022 Aug 29.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Autor: Metz KA; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD., Teng X; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China., Coppens I; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD., Lamb HM; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD., Wagner BE; Histopathology Department, Royal Hallamshire Hospital, Sheffield, United Kingdom., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Chen X; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China., Zhang Y; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China., Kim HJ; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA., Meadow ME; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA., Wang TS; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD., Haberlandt ED; Clinical Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.; Department of Child and Youth Health, Hospital of Dornbirn, Dornbirn, Austria., Anderson GW; Histopathology Department, Great Ormond Street Hospital for Children, London, United Kingdom., Leshinsky-Silver E; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Markello TC; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Pratt M; Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, OK., Makhseed N; Department of Pediatrics, Jahra Hospital, Ministry of Health, Al Jahra, Kuwait., Garnica A; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR., Danylchuk NR; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR., Burrow TA; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL., McKnight D; GeneDx, Gaithersburg, MD., Agadi S; Department of Neurology, Texas Children's Hospital, Houston, TX., Gbedawo H; Vital Kids Medicine, Seattle, WA., Stanley C; Courtagen Life Sciences, Woburn, MA., Alber M; Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Prehl I; Practice for Human Genetics, CeGaT, Tübingen, Germany., Peariso K; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Ong MT; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom., Mordekar SR; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom., Crooks D; Department of Neuropathology, Walton Centre National Health Service Foundation Trust, Liverpool, United Kingdom., Agrawal PB; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA., Berry GT; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA., Loddenkemper T; Department of Neurology, Boston Children's Hospital, Boston, MA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Maegawa GHB; Department of Pediatrics/Genetics and Metabolism, University of Florida, Gainesville, FL., Aouacheria A; Montpellier Institute of Evolution Sciences, University of Montpellier, CNRS, EPHE, IRD, Montpellier, France., Markle JG; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD., Wohlschlegel JA; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA., Hartman AL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD., Hardwick JM; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.

Publikováno v: Annals of neurology [Ann Neurol] 2018 Nov; Vol. 84 (5), pp. 766-780. Date of Electronic Publication: 2018 Nov 08.