Exploring the Role of Plasma Lipids and Statin Interventions on Multiple Sclerosis Risk and Severity: A Mendelian Randomization Study.

Autor: Almramhi MM; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands., Finan C; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands., Storm CS; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands., Schmidt AF; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands., Kia DA; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands., Coneys R; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands., Chopade S; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands., Hingorani AD; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands., Wood NW; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands. n.wood@ucl.ac.uk.

Publikováno v: Neurology [Neurology] 2023 Oct 24; Vol. 101 (17), pp. e1729-e1740. Date of Electronic Publication: 2023 Sep 01.

Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.

Autor: Storm CS; Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, UK., Kia DA; Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, UK., Almramhi MM; Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, UK.; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia., Bandres-Ciga S; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Finan C; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London WC1E 6BT, UK.; University College London British Heart Foundation Research Accelerator Centre, New Delhi, India.; Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Heidelberglaan 100, 3584, CX Utrecht, the Netherlands., Hingorani AD; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London WC1E 6BT, UK.; University College London British Heart Foundation Research Accelerator Centre, New Delhi, India.; Health Data Research UK, 222 Euston Road, London, UK., Wood NW; Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, UK. n.wood@ucl.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2021 Dec 20; Vol. 12 (1), pp. 7342. Date of Electronic Publication: 2021 Dec 20.

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Autor: Alkhiary YM; Oral and Maxillofacial Prosthodontics Department, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia., Jelani M; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan., Almramhi MM; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Mohamoud HS; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Human Genetics Research Centre, Division of Biomedical Sciences (BMS), St. George's University of London (SGUL), London SW17 0RE, United Kingdom., Al-Rehaili R; Oral and Maxillofacial Prosthodontics Department, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Zahrani HS; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Serafi R; Department of Dermatology, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Yang H; Oral and Maxillofacial Prosthodontics Department, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Aama JY; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; BGI-Shenzhen, Shenzhen 518083, China.

Publikováno v: Saudi journal of biological sciences [Saudi J Biol Sci] 2016 Sep; Vol. 23 (5), pp. 571-6. Date of Electronic Publication: 2015 Jun 16.

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.

Autor: Alrayes N; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Cell Sciences and Genetics Research Centre, St. George's University of London (SGUL), London SW17 0RE, United Kingdom., Mohamoud HS; Cell Sciences and Genetics Research Centre, St. George's University of London (SGUL), London SW17 0RE, United Kingdom., Ahmed S; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Almramhi MM; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Shuaib TM; Department of Paediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Wang J; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; BGI-Shenzhen, Shenzhen 518083, China., Al-Aama JY; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Everett K; Cell Sciences and Genetics Research Centre, St. George's University of London (SGUL), London SW17 0RE, United Kingdom., Nasir J; Cell Sciences and Genetics Research Centre, St. George's University of London (SGUL), London SW17 0RE, United Kingdom., Jelani M; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan. Electronic address: mjelani@kau.edu.sa.

Publikováno v: Journal of the neurological sciences [J Neurol Sci] 2016 Apr 15; Vol. 363, pp. 240-4. Date of Electronic Publication: 2016 Mar 02.

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.

Autor: Gaboon NE; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Medical Genetic Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Jelani M; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan., Almramhi MM; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Mohamoud HS; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Human Genetics Research Centre, Division of Biomedical Sciences (BMS), St George's University of London, London, UK., Al-Aama JY; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

Publikováno v: The Journal of dermatology [J Dermatol] 2015 Jul; Vol. 42 (7), pp. 706-9. Date of Electronic Publication: 2015 Apr 09.