المؤلفون: Benoît Sessinou Assogba, Salimina Sillah, Kevin O. Opondo, Sheikh Tijan Cham, Muhammed M. Camara, Lamin Jadama, Lamin Camara, Assane Ndiaye, Miriam Wathuo, Musa Jawara, Abdoulaye Diabaté, Jane Achan, Umberto D’Alessandro

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/f025576e1cd2403a824088af6a5d269e

المؤلفون: Mok RSF; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A8, Canada.; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Zhang W; Neurosciences & Mental Health Program, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada., Sheikh TI; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada., Pradeepan K; Department of Physiology and Pharmacology, Department of Psychiatry, Neuroscience Graduate Program, Robarts Research and Brain and Mind Institutes, Schulich School of Medicine and Dentistry, Western University, London, ON, N6A 5B7, Canada., Fernandes IR; University of California San Diego, School of Medicine, Department of Pediatrics/Rady Children's Hospital San Diego, Department of Cellular & Molecular Medicine, Stem Cell Program, La Jolla, CA, 92037-0695, USA., DeJong LC; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A8, Canada.; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Benigno G; Department of Applied Mathematics, Robarts Research Institute, Brain and Mind Institute, Western University, London, ON, N6A 5B7, Canada., Hildebrandt MR; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Mufteev M; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A8, Canada.; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Rodrigues DC; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Wei W; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Piekna A; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Liu J; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Muotri AR; University of California San Diego, School of Medicine, Department of Pediatrics/Rady Children's Hospital San Diego, Department of Cellular & Molecular Medicine, Stem Cell Program, La Jolla, CA, 92037-0695, USA.; Department of Pediatrics/Rady Children's Hospital, Department of Cellular & Molecular Medicine, Center for Academic Research and Training in Anthropogeny, Archealization Center, Kavli Institute, University of California San Diego, La Jolla, CA, 92037, USA., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada., Muller L; Department of Applied Mathematics, Robarts Research Institute, Brain and Mind Institute, Western University, London, ON, N6A 5B7, Canada., Martinez-Trujillo J; Department of Physiology and Pharmacology, Department of Psychiatry, Neuroscience Graduate Program, Robarts Research and Brain and Mind Institutes, Schulich School of Medicine and Dentistry, Western University, London, ON, N6A 5B7, Canada., Salter MW; Neurosciences & Mental Health Program, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Department of Physiology, University of Toronto, Toronto, ON, M5S 1A8, Canada., Ellis J; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A8, Canada. jellis@sickkids.ca.; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada. jellis@sickkids.ca.

المصدر: Translational psychiatry [Transl Psychiatry] 2022 Oct 18; Vol. 12 (1), pp. 450. Date of Electronic Publication: 2022 Oct 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Methyl-CpG-Binding Protein 2*/genetics , Rett Syndrome*/genetics, Humans ; Induced Pluripotent Stem Cells/metabolism ; Mutation ; Neurons/metabolism ; Phenotype

المؤلفون: Sheikh TI; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada., Harripaul R; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada., Vasli N; Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Ghadami M; Department of Educational Sciences, Farhangian University, Tehran 19989-63341, Iran., Santangelo SL; Center for Psychiatric Research, Maine Medical Center Research Institute, Portland, ME 04101, USA.; Department of Psychiatry, Tufts University School of Medicine, Boston, MA 02110, USA.; Department of Psychiatry, Maine Medical Center, Portland, ME 04102, USA., Ayub M; Department of Psychiatry, Queen's University, Kingston, ON K7L 7X3, Canada.; Department of Academic Psychiatry, University College London, London WC1E 6BT, UK., Sasanfar R; Department of Psychiatry, Harvard Medical School, Boston, MA 02215, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.

المصدر: Genes [Genes (Basel)] 2021 Dec 24; Vol. 13 (1). Date of Electronic Publication: 2021 Dec 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Heterozygote* , Mutation*, Autism Spectrum Disorder/*pathology , Cell Nucleolus/*metabolism , Phosphoproteins/*genetics , RNA-Binding Proteins/*genetics, Autism Spectrum Disorder/genetics ; HEK293 Cells ; Humans ; Male ; Nucleolin

المؤلفون: Sheikh TI; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Molecular Genetics Laboratory, North York General Hosptial Genetics Program, Toronto, ON, M2K 1E1, Canada., Vasli N; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada., Pastore S; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Kharizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, 19834, Iran., Harripaul R; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, 19834, Iran., Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India., Naeem F; General and Health Systems Psychiatry, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, M5T 1R8, Canada., Hussain A; Human Molecular Genetics Lab, Department of Biological Sciences, FBAS, International Islamic University, Islamabad, Pakistan., Mir A; Human Molecular Genetics Lab, Department of Biological Sciences, FBAS, International Islamic University, Islamabad, Pakistan., Islam O; Department of Diagnostic Radiology, Queens University, Kingston, ON, K7L 2V7, Canada., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India., Irfan M; Department of Mental Health, Psychiatry and Behavioural Sciences, Peshawar Medical College, Riphah International University, Islamabad, Pakistan., Ayub M; Lahore Institute of Research & Development, Lahore, 51000, Pakistan.; Department of Psychiatry, Queen's University, Kingston, ON, K7L 3N6, Canada., Schwarzer C; Department of Pharmacology, Medical University of Innsbruck, Innsbruck, Austria., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, 19834, Iran.; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, 14667, Iran., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India., Sladky VC; Institute for Developmental Immunology, Biocenter Medical University of Innsbruck, Innsbruck, Austria., Braun VZ; Institute for Developmental Immunology, Biocenter Medical University of Innsbruck, Innsbruck, Austria., Garcia-Carpio I; Institute for Developmental Immunology, Biocenter Medical University of Innsbruck, Innsbruck, Austria., Villunger A; Institute for Developmental Immunology, Biocenter Medical University of Innsbruck, Innsbruck, Austria. andreas.villunger@i-med.ac.at.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. andreas.villunger@i-med.ac.at.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria. andreas.villunger@i-med.ac.at., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada. john.vincent@camh.ca.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada. john.vincent@camh.ca.; Department of Psychiatry, University of Toronto, Toronto, ON, M5T 1R8, Canada. john.vincent@camh.ca.

المصدر: Translational psychiatry [Transl Psychiatry] 2021 Jan 05; Vol. 11 (1), pp. 1. Date of Electronic Publication: 2021 Jan 05.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: CRADD Signaling Adaptor Protein*/genetics , CRADD Signaling Adaptor Protein*/metabolism , Intellectual Disability*/genetics, Animals ; Caspase 2/genetics ; Caspase 2/metabolism ; Death Domain ; Death Domain Receptor Signaling Adaptor Proteins/genetics ; HEK293 Cells ; Humans ; India ; Mice ; Mutation

المؤلفون: Martínez de Paz A; Department of Biochemistry and Microbiology, University of Victoria, Petch Building 260, Victoria, BC, V8W 3P6, Canada.; Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, Cornell University, New York, NY, 10065, USA., Khajavi L; Unité de Mathématiques et Informatique Appliquées, Toulouse INRA, Auzeville, BP 52627, 31326, Castanet-Tolosan Cedex, France.; Centre de Physiopathologie de Toulouse Purpan, INSERM, UMR 1043, CNRS, UMR 5282, Université Toulouse III Paul Sabatier, Toulouse, France., Martin H; Centre de Physiopathologie de Toulouse Purpan, INSERM, UMR 1043, CNRS, UMR 5282, Université Toulouse III Paul Sabatier, Toulouse, France., Claveria-Gimeno R; Institute of Biocomputation and Physics of Complex Systems (BIFI), Joint Units IQFR-CSIC-BIFI and GBsC-CSC-BIFI, Universidad de Zaragoza, 50018, Saragossa, Spain.; Instituto Aragonés de Ciencias de la Salud (IACS), 50009, Saragossa, Spain.; Aragon Institute for Health Research (IIS Aragon), 50009, Saragossa, Spain., Tom Dieck S; Synaptic Plasticity Department, Max-Planck-Institute for Brain Research, Frankfurt/Main, Germany., Cheema MS; Department of Biochemistry and Microbiology, University of Victoria, Petch Building 260, Victoria, BC, V8W 3P6, Canada., Sanchez-Mut JV; School of Life Sciences, Brain Mind Institute, École Polytechnique Fédérale de Lausanne, 1015, Lausanne, Switzerland., Moksa MM; Michael Smith Laboratories, University of British Columbia, Vancouver, BC, V6T 1Z4, Canada.; Department of Microbiology and Immunology, University of British Columbia, Vancouver, BC, V6T 1Z4, Canada., Carles A; Michael Smith Laboratories, University of British Columbia, Vancouver, BC, V6T 1Z4, Canada.; Department of Microbiology and Immunology, University of British Columbia, Vancouver, BC, V6T 1Z4, Canada., Brodie NI; University of Victoria-Genome British Columbia Proteomics Centre, Vancouver Island Technology Park, #3101-4464 Markham Street, Victoria, BC, V8Z7X8, Canada., Sheikh TI; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, M5S 1A8, Canada., Freeman ME; Department of Biochemistry and Microbiology, University of Victoria, Petch Building 260, Victoria, BC, V8W 3P6, Canada., Petrotchenko EV; University of Victoria-Genome British Columbia Proteomics Centre, Vancouver Island Technology Park, #3101-4464 Markham Street, Victoria, BC, V8Z7X8, Canada., Borchers CH; University of Victoria-Genome British Columbia Proteomics Centre, Vancouver Island Technology Park, #3101-4464 Markham Street, Victoria, BC, V8Z7X8, Canada.; Department of Biochemistry and Microbiology, University of Victoria, Room 270d, Petch Building, 3800 Finnerty Road, Victoria, BC, V8P 5C2, Canada.; Gerald Bronfman Department of Oncology, Jewish General Hospital, Suite 720, 5100 de Maisonneuve Boulevard West, Montreal, QC, H4A 3T2, Canada.; Proteomics Centre, Segal Cancer Centre, Lady Davis Institute, Jewish General Hospital, McGill University, 3755 Côte-Sainte-Catherine Road, Montreal, QC, H3T 1E2, Canada., Schuman EM; Synaptic Plasticity Department, Max-Planck-Institute for Brain Research, Frankfurt/Main, Germany., Zytnicki M; Unité de Mathématiques et Informatique Appliquées, Toulouse INRA, Auzeville, BP 52627, 31326, Castanet-Tolosan Cedex, France., Velazquez-Campoy A; Institute of Biocomputation and Physics of Complex Systems (BIFI), Joint Units IQFR-CSIC-BIFI and GBsC-CSC-BIFI, Universidad de Zaragoza, 50018, Saragossa, Spain.; Instituto Aragonés de Ciencias de la Salud (IACS), 50009, Saragossa, Spain.; Department of Biochemistry and Molecular and Cell Biology, Universidad de Zaragoza, 50009, Saragossa, Spain.; Fundación ARAID, Government of Aragon, 50018, Saragossa, Spain.; Biomedical Reseach Networking Centre for Liver and Digestive Diseases (CIBERehd), Madrid, Spain., Abian O; Institute of Biocomputation and Physics of Complex Systems (BIFI), Joint Units IQFR-CSIC-BIFI and GBsC-CSC-BIFI, Universidad de Zaragoza, 50018, Saragossa, Spain.; Instituto Aragonés de Ciencias de la Salud (IACS), 50009, Saragossa, Spain.; Aragon Institute for Health Research (IIS Aragon), 50009, Saragossa, Spain.; Department of Biochemistry and Molecular and Cell Biology, Universidad de Zaragoza, 50009, Saragossa, Spain.; Biomedical Reseach Networking Centre for Liver and Digestive Diseases (CIBERehd), Madrid, Spain., Hirst M; School of Life Sciences, Brain Mind Institute, École Polytechnique Fédérale de Lausanne, 1015, Lausanne, Switzerland.; Michael Smith Laboratories, University of British Columbia, Vancouver, BC, V6T 1Z4, Canada.; Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada., Esteller M; Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Avinguda Gran Vía de L'Hospitalet 199-203. L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Physiological Sciences Department, School of Medicine and Health Sciences, University of Barcelona (UB), Catalonia, Spain.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Catalonia, Spain., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, M5S 1A8, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, M5T 1R8, Canada., Malnou CE; Centre de Physiopathologie de Toulouse Purpan, INSERM, UMR 1043, CNRS, UMR 5282, Université Toulouse III Paul Sabatier, Toulouse, France., Ausió J; Department of Biochemistry and Microbiology, University of Victoria, Petch Building 260, Victoria, BC, V8W 3P6, Canada. jausio@uvic.ca.

المصدر: Epigenetics & chromatin [Epigenetics Chromatin] 2019 Oct 10; Vol. 12 (1), pp. 63. Date of Electronic Publication: 2019 Oct 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101471619 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-8935 (Electronic) Linking ISSN: 17568935 NLM ISO Abbreviation: Epigenetics Chromatin Subsets: MEDLINE

مواضيع طبية MeSH: DNA/*metabolism , Methyl-CpG-Binding Protein 2/*metabolism, Animals ; Cell Line, Tumor ; Chromatin/metabolism ; Circadian Rhythm/genetics ; Humans ; Methyl-CpG-Binding Protein 2/chemistry ; Methyl-CpG-Binding Protein 2/genetics ; Mice ; Mice, Knockout ; Neurons/metabolism ; Protein Binding ; Protein Domains ; Protein Isoforms/chemistry ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Rats ; Rats, Sprague-Dawley ; Rett Syndrome/genetics ; Rett Syndrome/pathology

المؤلفون: Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Sheikh TI; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Center for Addiction and Mental Health, Toronto, ON, Canada., Musante L; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany., Rasheed M; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Taskiran II; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey., Harripaul R; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Center for Addiction and Mental Health, Toronto, ON, Canada., Hu H; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany., Kazeminasab S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Alam MR; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Hosseini M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Larti F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Ghaderi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Celik A; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey., Ayub M; Department of Psychiatry, Queen's University, Kingston, ON, Canada., Ansar M; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Haddadi M; Department of Biology, Faculty of Science, University of Zabol, Zabol, Iran., Wienker TF; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany., Ropers HH; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Center for Addiction and Mental Health, Toronto, ON, Canada., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

المصدر: Human molecular genetics [Hum Mol Genet] 2018 Sep 15; Vol. 27 (18), pp. 3177-3188.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability/*genetics , Nervous System/*metabolism , Repressor Proteins/*genetics , Spinal Cord/*metabolism , Zebrafish Proteins/*genetics, Animals ; Disease Models, Animal ; Drosophila melanogaster/genetics ; Gene Expression Regulation ; Gene Knockdown Techniques ; HEK293 Cells ; Humans ; Intellectual Disability/pathology ; Mutation, Missense/genetics ; Nervous System/pathology ; Phenotype ; Protein Binding ; Spinal Cord/pathology ; Zebrafish/genetics

المؤلفون: Sheikh TI; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada., Harripaul R; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada., Ayub M; Lahore Institute of Research & Development, Lahore, Pakistan.; Department of Psychiatry, Queen's University, Kingston, Ontario, Canada., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.

المصدر: Human mutation [Hum Mutat] 2018 May; Vol. 39 (5), pp. 717-728. Date of Electronic Publication: 2018 Mar 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: AT-Hook Motifs*, Chromatin/*metabolism , DNA/*metabolism , Intellectual Disability/*genetics , Methyl-CpG-Binding Protein 2/*chemistry , Methyl-CpG-Binding Protein 2/*genetics , Mutation/*genetics , Schizophrenia/*genetics, Adult ; Animals ; Base Sequence ; Cell Line ; Computer Simulation ; DNA/genetics ; DNA Mutational Analysis ; Female ; Humans ; Male ; Mice ; Middle Aged ; Pedigree ; Protein Domains ; Rett Syndrome/genetics

SCR Disease Name: Rett Syndrome, Atypical

المؤلفون: Harripaul R; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Vasli N; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Mikhailov A; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Rafiq MA; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan., Mittal K; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Windpassinger C; Institute of Human Genetics, Medical University of Graz, Graz, Austria., Sheikh TI; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Noor A; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Mahmood H; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Downey S; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Fleming College, Peterborough, ON, Canada., Johnson M; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Fleming College, Peterborough, ON, Canada., Vleuten K; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Fleming College, Peterborough, ON, Canada., Bell L; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Fleming College, Peterborough, ON, Canada., Ilyas M; Human Molecular Genetics Lab, Department of Bioinformatics and Biotechnology, FBAS, International Islamic University, Islamabad, Pakistan., Khan FS; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Khan V; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Moradi M; Qazvin University of Medical Science, Qazvin, Iran., Ayaz M; Lahore Institute of Research & Development, Lahore, Pakistan., Naeem F; Lahore Institute of Research & Development, Lahore, Pakistan.; Department of Psychiatry, Queen's University, Kingston, ON, Canada., Heidari A; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Division of Hematology/Oncology, Hospital for Sick Children, Toronto, ON, Canada., Ahmed I; Atta-ur-Rehman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan., Ghadami S; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Agha Z; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan., Zeinali S; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Qamar R; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Department of Biochemistry, Al-Nafees Medical College, Isra University, Islamabad, Pakistan., Mozhdehipanah H; Department of Neurology, Qazvin University of Medical Sciences, Qazvin, Iran., John P; Atta-ur-Rehman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan., Mir A; Human Molecular Genetics Lab, Department of Bioinformatics and Biotechnology, FBAS, International Islamic University, Islamabad, Pakistan., Ansar M; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., French L; Computational Neurobiology Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Ayub M; Lahore Institute of Research & Development, Lahore, Pakistan.; Department of Psychiatry, Queen's University, Kingston, ON, Canada., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.

المصدر: Molecular psychiatry [Mol Psychiatry] 2018 Apr; Vol. 23 (4), pp. 973-984. Date of Electronic Publication: 2017 Apr 11.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Consanguinity*, Intellectual Disability/*genetics, Adult ; Chromosome Mapping/methods ; DNA Copy Number Variations ; Family ; Female ; Genes, Recessive ; Genetic Heterogeneity ; Homozygote ; Humans ; Intellectual Disability/metabolism ; Iran ; Loss of Function Mutation ; Male ; Microarray Analysis/methods ; Middle Aged ; Mutation ; Pakistan ; Pedigree ; Exome Sequencing/methods

المؤلفون: Sheikh TI; Molecular Neuropsychiatry & Development (MiND) Lab, Brain Science Division, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada., de Paz AM; Department of Biochemistry and Microbiology, University of Victoria, BC V8P 5C2, Canada., Akhtar S; University of Engineering and Technology Taxila, Taxila, Punjab 47080, Pakistan., Ausió J; Department of Biochemistry and Microbiology, University of Victoria, BC V8P 5C2, Canada., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Brain Science Division, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.

المصدر: Human molecular genetics [Hum Mol Genet] 2017 Nov 01; Vol. 26 (21), pp. 4132-4141.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Methyl-CpG-Binding Protein 2/*genetics , Methyl-CpG-Binding Protein 2/*metabolism, Alternative Splicing ; Amino Acid Sequence ; Animals ; Cell Line ; Exons ; HEK293 Cells ; Humans ; Mice ; Mutation ; Mutation, Missense ; Protein Isoforms ; Protein Processing, Post-Translational ; Proteolysis ; RNA, Messenger/genetics ; Rett Syndrome/genetics ; Signal Transduction

المؤلفون: Sheikh TI; Molecular Neuropsychiatry &Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Ausió J; Department of Biochemistry and Microbiology, University of Victoria, BC, Canada., Faghfoury H; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON, Canada., Silver J; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON, Canada., Lane JB; Civitan International Research Center, University of Alabama at Birmingham, AL, USA., Eubanks JH; Division of Genetics and Development, Toronto Western Research Institute, University Health Network, Toronto, ON, Canada.; Department of Physiology, University of Toronto, Toronto, ON, Canada.; Department of Surgery (Neurosurgery), University of Toronto, Toronto, ON, Canada., MacLeod P; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Percy AK; Civitan International Research Center, University of Alabama at Birmingham, AL, USA., Vincent JB; Molecular Neuropsychiatry &Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.

المصدر: Scientific reports [Sci Rep] 2016 Dec 08; Vol. 6, pp. 38590. Date of Electronic Publication: 2016 Dec 08.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Mutation, Missense* , Phenotype*, Methyl-CpG-Binding Protein 2/*genetics , Rett Syndrome/*diagnosis , Rett Syndrome/*genetics, Alleles ; Amino Acid Sequence ; Amino Acid Substitution ; Animals ; DNA/chemistry ; DNA/metabolism ; Genotype ; Humans ; Male ; Methyl-CpG-Binding Protein 2/chemistry ; Methyl-CpG-Binding Protein 2/metabolism ; Mice ; Models, Molecular ; Myoblasts ; Nucleic Acid Conformation ; Protein Binding ; Protein Conformation ; Severity of Illness Index