Cure from the cave: volcanic cave actinomycetes and their potential in drug discovery

Autor: Cheeptham N., Sadoway T., Rule D., Watson K., Moote P., Soliman L.C., Azad N., Donkor K.K., Horne D.

Publikováno v: International Journal of Speleology, Vol 42, Iss 1, Pp 35-47 (2013)

Volcanic caves have been little studied for their potential as sources of novel microbial species and bioactive compounds with new scaffolds. We present the f irst study of volcanic cave microbiology from Canada and suggest that this habitat has grea

Externí odkaz: https://doaj.org/article/32b8f502fa8849b9824c215bfb0d6cfc

Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load

Autor: Perucca, P., Anderson, A., Jazayeri, D., Hitchcock, A., Graham, J., Todaro, M., Tomson, T., Battino, D., Perucca, E., Ferri, M. M., Rochtus, A., Lagae, L., Canevini, M. P., Zambrelli, E., Campbell, E., Koeleman, B. P. C., Scheffer, I. E., Berkovic, S. F., Kwan, P., Sisodiya, S. M., Goldstein, D. B., Petrovski, S., Craig, J., Vajda, F. J. E., O'Brien, T. J., Leu, C., Wolking, S., Peter, S., Weber, Y. G., Weckhuysen, S., Moller, R. S., Nikanorova, M., Muhle, H., Avbersek, A., Heggeli, K., Striano, P., Gambardella, A., Langley, S. R., Krenn, M., Klein, K. M., Mccormack, M., Borghei, M., Willis, J., Berghuis, B., Jorgensen, A., Auce, P., Francis, B., Srivastava, P., Sonsma, A. C. M., Sander, Jw., Zimprich, F., Depondt, C., Johnson, M. M., Marson, A. G., Sills, G. J., Kunz, W. S., Cavalleri, G. L., Delanty, N., Zara, F., Krause, R., Lerche, H., Andrade, D., Sen, A., Bazil, C. W., Boland, M., Cavalleri, G., Choi, H., Colombo, S., Costello, D., Devinsky, O., Doherty, C. P., Dugan, P., Frankel, W., Heinzen, E., Johnson, M., Marson, T., Mikati, M., Ottman, R., Pandolfo, M., Radtke, R., Rees, M., Sadoway, T., Valley, N., Walley, N., Wood, N., Zuberi, S.

OBJECTIVE: The mechanisms by which antiepileptic drugs (AEDs) cause birth defects (BDs) are unknown. Data suggest that AED-induced BDs may result from a genome-wide increase of de novo variants in the embryo, a mechanism which we investigated. METHOD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d00056b271fc1c143d3428130add6a
http://hdl.handle.net/11567/1021849

Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.

Autor: Qaiser F; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, Canada.; Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.; Adult Epilepsy Genetics Research Program, Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Toronto, Canada., Sadoway T; Adult Epilepsy Genetics Research Program, Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Toronto, Canada., Yin Y; Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Zulfiqar Ali Q; Adult Epilepsy Genetics Research Program, Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Toronto, Canada., Nguyen CM; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, Canada.; Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Shum N; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, Canada.; Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Backstrom I; Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Marques PT; Adult Epilepsy Genetics Research Program, Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Toronto, Canada., Tabarestani S; Adult Epilepsy Genetics Research Program, Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Toronto, Canada., Munhoz RP; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Canada.; Neuromodulation Unit and Ataxia Clinic, Toronto Western Hospital, University Health Network, Toronto, Canada., Krings T; Department of Medical Imaging, University of Toronto, Toronto, Canada.; Division of Neuroradiology, Toronto Western Hospital, University Health Network, Toronto, Canada., Pearson CE; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, Canada.; Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Yuen RKC; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, Canada.; Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Andrade DM; Adult Epilepsy Genetics Research Program, Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Toronto, Canada.; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Canada.; Epilepsy Program, Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, University of Toronto, Toronto, Canada.

Publikováno v: Brain communications [Brain Commun] 2021 Sep 14; Vol. 3 (3), pp. fcab207. Date of Electronic Publication: 2021 Sep 14 (Print Publication: 2021).

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Autor: Stamberger H; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; Applied and Translational Neurogenomics group, Center for Molecular Neurology, VIB, and Department of Neurology, University Hospital of Antwerp, University of Antwerp, Antwerpen, Belgium., Hammer TB; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Clinical Genetic Department, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gardella E; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Vlaskamp DRM; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Bertelsen B; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Mandelstam S; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia.; Department of Radiology, University of Melbourne, Melbourne, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia., de Lange I; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Zhang J; Department of Pediatrics, Peking University First Hospital, Beijing, China., Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Fenger C; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark., Afawi Z; Tel Aviv University Medical School, Tel Aviv, Israel., Almanza Fuerte EP; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Andrade DM; Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada., Balcik Y; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Ben Zeev B; Edmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israel.; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel., Bennett MF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; Department of Medical Biology University of Melbourne, Melbourne, VIC, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Isidor B; Service de génétique médicale, CHU Nantes, Nantes, France., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Busk ØL; Section for Medical Genetics, Telemark Hospital, Skien, Norway., Cairns A; Department of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australia., Caumes R; Service de Neuropédiatrie, Pôle de Médecine et Spécialités Médicales, CHRU de Lille, Lille, France., Chatron N; Lyon University Hospitals, Departments of Genetics, Lyon, France., Dale RC; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., de Geus C; University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands., Edery P; Lyon University Hospitals, Departments of Genetics, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Bron, France., Gill D; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Granild-Jensen JB; Child and Youth, Randers Regional Hospital, Randers, Denmark., Gunderson L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands., Heimer G; Edmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israel.; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel., Helle JR; Section for Medical Genetics, Telemark Hospital, Skien, Norway., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Hollingsworth G; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Kharytonov V; Clinical Hospital 'Psychiatry', Kyiv, Ukraine., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Koeleman BPC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Korff C; Pediatric Neurology Unit, University Hospitals, Geneva, Switzerland., Küry S; Service de génétique médicale, CHU Nantes, Nantes, France., Lesca G; Lyon University Hospitals, Departments of Genetics, Lyon, France., Lev D; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel., Leventer RJ; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia., Mackay MT; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia., Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, Cranmer Tce, London, United Kingdom., Mohammad SS; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Monin P; Lyon University Hospitals, Departments of Genetics, Lyon, France., Montomoli M; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.; INSERM UMR1231 GAD, FHU-TRANSLAD, Université de Bourgogne, Dijon, France., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Parrini E; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Procopis P; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Reed L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Reif PS; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Rosenow F; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Rossi M; Lyon University Hospitals, Departments of Genetics, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Bron, France., Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand., Sadoway T; Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada., Schelhaas HJ; Stichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands., Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Shah K; One Centre of Genetics, Vadodara, India., Shalev R; Neuropaediatric Unit, Shaare Zedek Medical Centre, Hebrew University School of Medicine, Jerusalem, Israel., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom and Chalfont Centre for Epilepsy, Bucks, UK., Smol T; Institut de Génétique Médicale, Hopital Jeanne de Flandre, Lille University Hospital, Lille, France., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., Mau-Them FT; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 GAD, Dijon, France., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verhoeven JS; Academic Center for Epileptology, Kempenhaege, Department of Neurology, Heeze, The Netherlands., Wallace G; Department of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australia.; School of Medicine, University of Queensland, Brisbane, QLD, Australia., Yosovich K; Molecular Genetics Lab, Wolfson Medical Center, Holon, Israel., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Zerem A; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.; White Matter Disease Care, Pediatric Neurology Unit, Dana-Dwak Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., Guerrini R; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Zhang YH; Department of Pediatrics, Peking University First Hospital, Beijing, China., Møller RS; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Royal Children's Hospital, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Murdoch Children's Research Institute, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 363-373. Date of Electronic Publication: 2020 Nov 04.