RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

Autor: Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano

Publikováno v: Journal of Clinical Investigation, 132(13):e145660. American Society for Clinical Investigation
Scientia
Journal of Clinical Investigation, 132(13):e145660. The American Society for Clinical Investigation
Journal of Clinical Investigation, 132, 13
Journal of Clinical Investigation, 132

Genetic diseases; Mitochondria; Molecular pathology Enfermedades genéticas; Mitocondrias; Patología molecular Malalties genètiques; Mitocondris; Patologia molecular Mitochondrial DNA (mtDNA) depletion/deletions syndromes (MDDS) encompass a clinica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94350c4a9c565f094b05785f6c12f6cb
http://www.scopus.com/inward/record.url?scp=85133677836&partnerID=8YFLogxK

Comparative evaluation of axillary and rectal temperatures across different gestational ages in newborns admitted to the neonatal intensive care unit: a cross-sectional study.

Autor: Halabi S; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, 11481, Kingdom of Saudi Arabia., Almuqati R; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Al Essa A; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Althubaiti M; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Alshareef M; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Homedi A; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Alwatban A; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Alrahili M; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Alsaif S; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, 11481, Kingdom of Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Ali K; Neonatal Intensive Care Department, King Abdulaziz Medical City-Riyadh, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia. alika@ngha.med.sa.; King Abdullah International Medical Research Center, Riyadh, 11481, Kingdom of Saudi Arabia. alika@ngha.med.sa.; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. alika@ngha.med.sa.

Publikováno v: BMC pediatrics [BMC Pediatr] 2024 Nov 12; Vol. 24 (1), pp. 727. Date of Electronic Publication: 2024 Nov 12.

The incidence and risk factors of post-transplant diabetes mellitus in living donor kidney transplantation patients: a retrospective study.

Autor: Alanazi NF; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. noraalenzi5@gmail.com.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia. noraalenzi5@gmail.com., Almutairi M; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., Aldohayan L; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., AlShareef A; Hepatobiliary Sciences and Organ Transplantation, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., Ghallab B; Hepatobiliary Sciences and Organ Transplantation, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., Altamimi A; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Hepatobiliary Sciences and Organ Transplantation, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

Publikováno v: BMC nephrology [BMC Nephrol] 2024 Nov 01; Vol. 25 (1), pp. 394. Date of Electronic Publication: 2024 Nov 01.

Safety and Effectiveness of Direct Oral Anticoagulants Versus Warfarin in Patients with Venous Thromboembolism using Real-World Data: A Systematic Review and Meta-Analysis.

Autor: Alshahrani WA; Department of Pharmacy Practice, College of Pharmacy, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alshahrani RS; Department of Clinical Pharmacy, King Saud Medical City, Riyadh, Saudi Arabia., Alkathiri MA; Department of Clinical Pharmacy, King Saud Medical City, Riyadh, Saudi Arabia., Alay SM; Department of Pharmacy Practice, College of Pharmacy, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alabkka AM; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia., Alaraj SA; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia., Al Yami MS; Department of Pharmacy Practice, College of Pharmacy, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Pharmaceutical Care Department, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia., Altayyar WA; Drug Sector, Saudi Food and Drug Authority, Riyadh, Saudi Arabia., Alfayez OM; Department of Pharmacy Practice, College of Pharmacy, Qassim University, Qassim, Saudi Arabia. oalfayez@qu.edu.sa., Basoodan MS; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia., Almutairi AR; Drug Sector, Saudi Food and Drug Authority, Riyadh, Saudi Arabia., Almohammed OA; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.; Pharmacoeconomics Research Unit, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.

Publikováno v: American journal of cardiovascular drugs : drugs, devices, and other interventions [Am J Cardiovasc Drugs] 2024 Nov; Vol. 24 (6), pp. 823-839. Date of Electronic Publication: 2024 Sep 10.

Global outcomes and prognosis for relapsed/refractory mature T-cell and NK-cell lymphomas: Results from PETAL consortium.

Autor: Han JX; Massachusetts Institute of Technology, Cambridge, Massachusetts, United States., Koh MJ; Georgetown University, Washington, District of Columbia, United States., Boussi L; Memorial Sloan Kettering Cancer Center, New York, New York, United States., Sorial M; Massachusetts General Hospital, Boston, Massachusetts, United States., McCabe SM; Massachusetts General Hospital, Boston, Massachusetts, United States., Peng L; University of Colorado Anschutz Medical Campus, Denver, Colorado, United States., Singh S; Massachusetts General Hospital, Boston, Massachusetts, United States., Eche-Ugwu IJ; Dana-Farber Cancer Institute, Boston, Massachusetts, United States., Gabler J; Massachusetts General Hospital, Boston, Massachusetts, United States., Fernandez Turizo MJ; Beth Israel Deaconess Medical Center, Brookline, Massachusetts, United States., MacVicar CT; Massachusetts General Hospital, Boston, Massachusetts, United States., Garg AR; Massachusetts General Hospital, Boston, Massachusetts, United States., Disciullo A; Massachusetts General Hospital, Boston, Massachusetts, United States., Chopra K; Massachusetts General Hospital, Boston, Massachusetts, United States., Lenart AW; Massachusetts General Hospital, Boston, Massachusetts, United States., Nwodo E; Massachusetts General Hospital, Boston, Massachusetts, United States., Barnes JA; Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States., Koh MJ; Brown University, Providence, Rhode Island, United States., Miranda ECM; Universidade Estadual de Campinas - UNICAMP, Campinas, Brazil., Chiattone CS; Santa Casa Medical School, Sao Paulo, Brazil., Stuver RN; Memorial Sloan Kettering Cancer Center, New York, New York, United States., Horwitz SM; Memorial Sloan Kettering Cancer Center, New York, New York, United States., Merrill MH; University of California, San Francisco, San Francisco, California, United States., Jacobsen ED; Dana-Farber Cancer Institute, Boston, Massachusetts, United States., Manni M; University of Modena and Reggio Emilia, Modena, Italy., Civallero M; CHIMOMO, Modena, Italy., Skrypets T; Istituto Tumori Giovanni Paolo II, Bari, Italy., Lymboussaki A; University of Modena and Reggio Emilia, MODENA, Italy., Federico M; University of Modena and Reggio Emilia, Modena, Italy., Kim YR; Yonsei University College of Medicine, Seoul, Korea, Republic of., Kim JS; Yonsei University College of Medicine, Seoul, Korea, Republic of., Cho JY; Yonsei University College of Medicine, Seoul, Korea, Republic of., Eipe T; Tata Memorial Centre, Mumbai, India., Shet T Dr; Tata Memorial Centre, Mumbai, India., Epari S; ACTREC and Tata Memorial Hospital, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Shetty A; Tata Memorial Centre, Homi Bhabha National University, Mumbai, India., Saha S; Tata Memorial Centre, Mumbai, India., Jain H Dr; Tata Memorial Hospital, Mumbai, India., Sengar M MD, DM; Tata Memorial Centre, Mumbai, India., Van Der Weyden C; Peter MacCallum Cancer Centre, Melbourne, Australia., Prince HM; Sir Peter MacCallum Department of Oncology, University of Melboure, Melbourne, Australia., Hamouche R; Yale Cancer Center, New Haven, Connecticut, United States., Muradashvili T; Emory University School of Medicine, Atlanta, Connecticut, United States., Foss FM; Yale Cancer Center, New Haven, Connecticut, United States., Gentilini M; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia 'Seràgnoli', BOLOGNA, Italy., Casadei B; IRCCS Azienda Ospedaliero Universitaria di Bologna, Bologna, Italy., Zinzani PL; University of Bologna, Bologna, Italy., Okatani T; Hiroshima Red Cross Hospital, Hiroshima, Japan., Yoshida N; Radiation Effects Research Foundation, Hiroshima, Japan., Yoon SE; Samsung Medical Center, SEOUL, Korea, Republic of., Kim WS; Sungkyunkwan university school of medicine, Samsung Medical Center, Seoul, Korea, Republic of., Panchoo G; University of Cape Town and Groote Schuur Hospital, Capetown, South Africa., Mohamed Z; University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa., Verburgh E; University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa., Alturas JC; King Abdulaziz Medical City, Jeddah, Saudi Arabia., Al-Mansour M; King Abdulaziz Medical City, Riyadh, Saudi Arabia., Ford J; Massachusetts General Hospital Cancer Center, Boston, Massachusetts, United States., Cabrera ME; Hospital del Salvador, Universidad de Chile, Santiago, Chile., Ku A; Columbia University Irving Medical Center, New York, New York, United States., Bhagat G; Columbia University Medical Center, New York, New York, United States., Ma H; VA Long Beach Healthcare System, Long Beach, California, United States., Sawas A; Columbia Medical Center, New York, New York, United States., Kariya KM; Massachusetts General Hospital, Boston, Massachusetts, United States., Iwasaki M; Massachusetts General Hospital Cancer Center, Cambridge, Massachusetts, United States., Bhanushali F; Massachusetts General Hospital, Boston, Massachusetts, United States., O'Connor OA; University of Virginia Cancer Center, Charlottesville, Virginia, United States., Marchi E; University of Virginia Cancer Center, Charlottesville, Virginia, United States., Shen C; Biogen, Cambridge, Massachusetts, United States., Shah D; Massachusetts Institute of Technology, Cambridge, Massachusetts, United States., Jain S; Massachusetts General Hospital, Boston, Massachusetts, United States.

Publikováno v: Blood advances [Blood Adv] 2024 Oct 31. Date of Electronic Publication: 2024 Oct 31.