The study of rs324420 (C385A) polymorphism of the FAAH gene of the endocannabinoid system in patients with epilepsy and ADHD.

Autor: Anvar LH; Research Center of Psychiatry and Behavioral Sciences, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran; Aging Research Institute, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran., Alejafar A; Department of Neurology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran., Moosavi SE; Department of Neurology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran., Charsouei S; Department of Neurology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran. Electronic address: scharsouei@gmail.com., Zeynalzadeh N; Department of Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, the Islamic Republic of Iran., Fanid LM; Division of Cognitive Neuroscience, Department of Psychology, Faculty of Educational Sciences and Psychology, University of Tabriz, Tabriz, the Islamic Republic of Iran., Emamalizadeh B; Department of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran., Aydinlou ZH; Department of Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, the Islamic Republic of Iran., Vaezi H; Department of Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, the Islamic Republic of Iran., Kashefi A; Laboratory of Neurosciences and Behavior, Department of Physiological Sciences, University of Brasília, Brasília, DF, Brazil., Tomaz C; Laboratory of Neurosciences and Behavior and Graduate Program in Environment, CEUMA University -UniCEUMA, São Luís, MA, Brazil., Nikanfar M; Department of Neurology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran. Electronic address: masoudnikanfar@yahoo.com., Ahmadalipour A; Research Center of Psychiatry and Behavioral Sciences, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran; Aging Research Institute, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran. Electronic address: ali.ahmadalipour1@gmail.com.

Publikováno v: Epilepsy research [Epilepsy Res] 2023 May; Vol. 192, pp. 107100. Date of Electronic Publication: 2023 Feb 03.

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Autor: Karimi K; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Weis D; Department of Medical Genetics, Med Campus IV, Kepler University Hospital, Johannes Kepler, University, Linz, Austria., Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Horackova M; Department of Medical Genetics, Med Campus IV, Kepler University Hospital, Johannes Kepler, University, Linz, Austria., Paulsen J; Department of Medical Genetics, St. Olav's hospital, Trondheim University Hospital, Trondheim, Norway., Mendoza Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Dickson M; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Lesman H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lau T; Institute of Neurology, University College London, London, UK., Murphy D; Institute of Neurology, University College London, London, UK., Hama Salih K; Department of Pediatrics, College of Medicine, Sulaimani University, Sulaymaniyah, 46001, Iraq., Al-Musawi BMS; College of Medicine, University of Baghdad, Baghdad, Iraq., Al-Obaidi RGY; College of Medicine, University of Baghdad, Baghdad, Iraq.; The Teaching Laboratories, Medical city complex, Baghdad, Iraq., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Biela M; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, Wroclaw, Poland., Santos MS; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Aldeeri A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Gazda HT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Takeda Development Center Americas, Inc., Cambridge, MA, USA., Pais L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Døllner H; Department of Medical Genetics, St. Olav's hospital, Trondheim University Hospital, Trondheim, Norway.; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway., Bartakke S; Department of Clinical Hematology, Aditya Birla Memorial Hospital, Pune, India., Laccone F; Department of Pediatrics, Hospital of the Sister of Merci, Linz, Austria., Soltysova A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.; Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia., Kitzler T; Department of Human Genetics, McGill University, Montreal, QC, Canada., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Cairo University, Egyptian Group for Orphan Renal Diseases, Cairo, Egypt., Relator R; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Levy MA; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kerkhof J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Rzasa J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Houlden H; Institute of Neurology, University College London, London, UK., Pilshofer GV; Department of Pediatrics, Hospital of the Sister of Merci, Linz, Austria., Jobst-Schwan T; Harvard Medical School, Boston, MA, USA.; Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal., Maroofian R; Institute of Neurology, University College London, London, UK., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Sadikovic B; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada. bekim.sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, Canada. bekim.sadikovic@lhsc.on.ca., Douzgou Houge S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. sofia.douzgou.houge@helse-bergen.no.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec; Vol. 32 (12), pp. 1574-1582. Date of Electronic Publication: 2024 Oct 19.

FAAH rs324420 Polymorphism: Biological Pathways, Impact on Elite Athletic Performance and Insights for Sport Medicine.

Autor: Silva, Hugo-Henrique, Tavares, Valéria, Neto, Beatriz Vieira, Cerqueira, Fátima, Medeiros, Rui, Silva, Maria-Raquel G.

Publikováno v: Genes; Oct2023, Vol. 14 Issue 10, p1946, 18p