المؤلفون: Klementieva NV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia., Lunev EA; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia., Shmidt AA; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia., Loseva EM; Marlin Biotech LLC, Sochi, Russia., Savchenko IM; Marlin Biotech LLC, Sochi, Russia.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia., Svetlova EA; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia., Galkin II; Marlin Biotech LLC, Sochi, Russia.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia., Polikarpova AV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia., Usachev EV; Laboratory of Translational Biomedicine, Gamaleya National Research Center for Epidemiology, Moscow, Russia., Vassilieva SG; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia., Marina VI; Marlin Biotech LLC, Sochi, Russia., Dzhenkova MA; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia., Romanova AD; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia., Agutin AV; State Budgetary Healthcare Institution of Moscow Region 'Balashikha Hospital,' Balashikha, Russia., Timakova AA; Institute for Regenerative Medicine, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia., Reshetov DA; Marlin Biotech LLC, Sochi, Russia., Egorova TV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia., Bardina MV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow, Russia.; Marlin Biotech LLC, Sochi, Russia.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia.

المصدر: Nucleic acid therapeutics [Nucleic Acid Ther] 2024 Apr; Vol. 34 (2), pp. 90-99. Date of Electronic Publication: 2024 Jan 12.

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

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101562758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2159-3345 (Electronic) Linking ISSN: 21593337 NLM ISO Abbreviation: Nucleic Acid Ther Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Therapy* , Brain Diseases*/genetics, Animals ; Humans ; RNA Interference ; RNA, Small Interfering/pharmacology ; Alleles ; Genetic Vectors/genetics ; GTP-Binding Protein alpha Subunits, Gi-Go/genetics

المؤلفون: Grigorenko AP; Center for Genetics and Life Science, Sirius University of Science and Technology, 354340 Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia.; Department of Psychiatry, UMass Chan Medical School, Shrewsbury, MA 01545, USA., Protasova MS; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia., Lisenkova AA; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia., Reshetov DA; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia., Andreeva TV; Center for Genetics and Life Science, Sirius University of Science and Technology, 354340 Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia.; Center for Genetics and Genetic Technologies, Department of Genetics, Faculty of Biology, Lomonosov Moscow State University, 119192 Moscow, Russia., Garcias GL; Catholic University of Pelotas, Pelotas 96015-560, RS, Brazil.; Federal University of Pelotas, Pelotas 96010-610, RS, Brazil., Martino Roth MDG; Catholic University of Pelotas, Pelotas 96015-560, RS, Brazil., Papassotiropoulos A; Transfaculty Research Platform, University of Basel, CH-4055 Basel, Switzerland.; Psychiatric University Clinics, University of Basel, CH-4055 Basel, Switzerland., Rogaev EI; Center for Genetics and Life Science, Sirius University of Science and Technology, 354340 Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia.; Department of Psychiatry, UMass Chan Medical School, Shrewsbury, MA 01545, USA.; Center for Genetics and Genetic Technologies, Department of Genetics, Faculty of Biology, Lomonosov Moscow State University, 119192 Moscow, Russia.

المصدر: Cells [Cells] 2022 Jan 25; Vol. 11 (3). Date of Electronic Publication: 2022 Jan 25.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Neurodevelopmental Disorders*/genetics , Receptors, Glutamate*/genetics , Speech Disorders*/genetics, Adult ; Exons ; Humans ; Syndrome

المؤلفون: Starikova AV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334., Skopenkova VV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334., Polikarpova AV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334., Reshetov DA; Research Centre for Genetic Medicine, Moscow, Russia, 117292., Vassilieva SG; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334., Velyaev OA; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334., Shmidt AA; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334., Savchenko IM; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334., Soldatov VO; Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University, Belgorod, Russia, 308007.; Institute of Gene Biology, Core Facility Centre, Russian Academy of Sciences, Moscow, Russia, 119334., Egorova TV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334. egorovatv@genebiology.ru.; Marlin Biotech LLC, Sochi, Russia, 354340. egorovatv@genebiology.ru., Bardina MV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia, 119334.; Marlin Biotech LLC, Sochi, Russia, 354340.

المصدر: Scientific reports [Sci Rep] 2022 Jan 17; Vol. 12 (1), pp. 848. Date of Electronic Publication: 2022 Jan 17.

نوع المنشور: Journal Article; 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: Codon*, Genetic Therapy/*methods , Muscular Dystrophy, Duchenne/*therapy , Utrophin/*therapeutic use, Animals ; Creatine Kinase ; Gene Expression ; Humans ; Injections, Intramuscular ; Mice ; Mice, Inbred mdx ; Muscles/metabolism ; Phenotype ; Utrophin/administration & dosage ; Utrophin/genetics ; Utrophin/metabolism

المؤلفون: Gusev FE; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia., Reshetov DA; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia., Mitchell AC; Department of Psychiatry and Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Andreeva TV; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia.; Faculty of Biology, Center for Genetics and Genetic Technologies, Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia., Dincer A; Department of Psychiatry and Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Grigorenko AP; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia., Fedonin G; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia., Halene T; Department of Psychiatry and Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Aliseychik M; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia.; Faculty of Biology, Center for Genetics and Genetic Technologies, Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia., Filippova E; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA., Weng Z; Program in Bioinformatics and Integrative Biology, University of Massachusetts Medical School, Worcester, MA, USA., Akbarian S; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.; Department of Psychiatry and Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Rogaev EI; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA. evgeny.rogaev@umassmed.edu.; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia. evgeny.rogaev@umassmed.edu.; Faculty of Biology, Center for Genetics and Genetic Technologies, Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia. evgeny.rogaev@umassmed.edu.; Sirius University of Science and Technology, 1 Olympic Ave, 354340, Sochi, Russia. evgeny.rogaev@umassmed.edu.

المصدر: Translational psychiatry [Transl Psychiatry] 2019 Oct 17; Vol. 9 (1), pp. 256. Date of Electronic Publication: 2019 Oct 17.

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: Chromatin/*genetics , Histones/*genetics , Neurons/*metabolism , Prefrontal Cortex/*metabolism , Schizophrenia/*genetics, Butyrophilins/genetics ; DNA Methylation ; Epigenesis, Genetic ; HLA-DRB5 Chains/genetics ; Humans ; Male ; Middle Aged ; RNA, Long Noncoding/genetics ; Schizophrenia/etiology ; Transcription Initiation Site ; Young Adult

المؤلفون: Gusev FE; Department of Psychiatry, University of Massachusetts Medical School, Worcester, Massachusetts, USA.; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia.; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics of Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia., Reshetov DA; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia.; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics of Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia., Mitchell AC; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Andreeva TV; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia.; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics of Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia., Dincer A; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Grigorenko AP; Department of Psychiatry, University of Massachusetts Medical School, Worcester, Massachusetts, USA.; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia.; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics of Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia., Fedonin G; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia., Halene T; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Aliseychik M; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia.; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Goltsov AY; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia., Solovyev V; Department of Cell Biology, Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences (SB RAS), Novosibirsk, Russia., Brizgalov L; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics of Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia., Filippova E; Department of Psychiatry, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Weng Z; Department of Cell Biology, Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences (SB RAS), Novosibirsk, Russia., Akbarian S; Department of Psychiatry, University of Massachusetts Medical School, Worcester, Massachusetts, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Rogaev EI; Department of Psychiatry, University of Massachusetts Medical School, Worcester, Massachusetts, USA.; Department of Human Genetics and Genomics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics of Russian Academy of Science, Moscow, Russia.; Center for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia.

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2019 Jul; Vol. 33 (7), pp. 8161-8173. Date of Electronic Publication: 2019 Apr 10.

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

بيانات الدورية: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

مواضيع طبية MeSH: Chromatin/*metabolism , Cognition/*physiology , Epigenesis, Genetic/*physiology , Neurons/*metabolism , Prefrontal Cortex/*metabolism, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Genetic Loci/physiology ; Histones/metabolism ; Humans ; Infant ; Infant, Newborn ; Male ; Methylation ; Middle Aged ; Neurons/cytology ; Nuclear Pore Complex Proteins/biosynthesis ; Prefrontal Cortex/cytology ; Pregnancy

المؤلفون: Egorova TV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, 119334, Russia t.dimitrieva@marlinbiotech.com.; Marlin Biotech LLC, Moscow, 143026, Russia., Zotova ED; Marlin Biotech LLC, Moscow, 143026, Russia., Reshetov DA; Research Centre for Genetic Medicine, Moscow, 117292, Russia., Polikarpova AV; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, 119334, Russia.; Marlin Biotech LLC, Moscow, 143026, Russia., Vassilieva SG; Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, 119334, Russia.; Marlin Biotech LLC, Moscow, 143026, Russia., Vlodavets DV; Veltischev Scientific Research Clinical Paediatric Institute, Moscow, 125412, Russia., Gavrilov AA; Group of Genome Spatial Organization, Institute of Gene Biology, Russian Academy of Sciences, Moscow, 119334, Russia., Ulianov SV; Laboratory of Structural and Functional Organization of Chromosomes, Institute of Gene Biology, Russian Academy of Sciences, Moscow, 119334, Russia.; Faculty of Biology, M.V. Lomonosov Moscow State University, Moscow, 119991, Russia., Buchman VL; School of Biosciences, Cardiff University, Cardiff, CF10 3AX, UK., Deykin AV; Core Facilities, Institute of Gene Biology, Russian Academy of Sciences, Moscow, 119334, Russia.

المصدر: Disease models & mechanisms [Dis Model Mech] 2019 Apr 25; Vol. 12 (4). Date of Electronic Publication: 2019 Apr 25.

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

بيانات الدورية: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

مواضيع طبية MeSH: Sequence Deletion*, Base Pairing/*genetics , CRISPR-Cas Systems/*genetics , Dystrophin/*genetics , Muscular Dystrophy, Duchenne/*genetics, Animals ; Biomechanical Phenomena ; Cell Line ; Child ; Chromatin/metabolism ; Disease Models, Animal ; Exons/genetics ; Female ; Humans ; Male ; Mice, Inbred C57BL ; Muscles/physiopathology ; Muscular Dystrophy, Duchenne/physiopathology ; Phenotype ; RNA, Guide, CRISPR-Cas Systems/metabolism

المؤلفون: Andreeva TV; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia., Tyazhelova TV; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia., Rykalina VN; Max-Planck Institute for Molecular Genetics, Berlin 14195, Germany.; Alacris Theranostics GmbH, Berlin 14195, Germany.; Freie Universitaät Berlin, Berlin 14195, Germany., Gusev FE; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia., Goltsov AY; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia., Zolotareva OI; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Faculty of Bioengineering and Bioinformatics, Center of Genetics and Genetic Technologies, Lomonosov Moscow State University, Moscow 119234, Russia., Aliseichik MP; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia., Borodina TA; Max-Planck Institute for Molecular Genetics, Berlin 14195, Germany.; Alacris Theranostics GmbH, Berlin 14195, Germany.; Freie Universitaät Berlin, Berlin 14195, Germany., Grigorenko AP; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.; Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, Massachusetts 01604, USA., Reshetov DA; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia., Ginter EK; Federal State Budgetary Institution «Research Centre for Medical Genetics», Moscow 115478, Russia., Amelina SS; The Rostov State Medical University, Rostov-on-Don 344022, Russia., Zinchenko RA; Federal State Budgetary Institution «Research Centre for Medical Genetics», Moscow 115478, Russia.; Pirogov Russian National Research Medical University, Moscow 117997, Russia., Rogaev EI; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.; Faculty of Bioengineering and Bioinformatics, Center of Genetics and Genetic Technologies, Lomonosov Moscow State University, Moscow 119234, Russia.; Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, Massachusetts 01604, USA.

المصدر: Scientific reports [Sci Rep] 2016 May 24; Vol. 6, pp. 26440. Date of Electronic Publication: 2016 May 24.

نوع المنشور: Journal Article; 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: Mutation, Missense*, Anoctamins/*genetics , Jaw Neoplasms/*genetics , Muscular Dystrophies/*genetics , Sequence Analysis, DNA/*methods , Exome Sequencing/*methods, Anoctamins/chemistry ; Cementoma/genetics ; Child ; Female ; Genetic Association Studies ; Humans ; Male ; Models, Molecular ; Osteogenesis Imperfecta/genetics ; Pedigree ; Russia

SCR Disease Name: Gigantiform Cementoma, Familial; Osteogenesis imperfecta, Levin type

المؤلفون: Protasova MS; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Grigorenko AP; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, MA, USA., Tyazhelova TV; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Andreeva TV; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Reshetov DA; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Gusev FE; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Laptenko AE; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Department of Bioinformatics, Moscow Institute of Physics and Technology, Dolgoprudny, Russia., Kuznetsova IL; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Goltsov AY; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Klyushnikov SA; Department of Neurogenetics, Research Center of Neurology, Russian Academy of Medical Sciences, Moscow, Russia., Illarioshkin SN; Department of Neurogenetics, Research Center of Neurology, Russian Academy of Medical Sciences, Moscow, Russia., Rogaev EI; Center of Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, MA, USA.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Apr; Vol. 24 (4), pp. 550-5. Date of Electronic Publication: 2015 Aug 05.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, ATP-Binding Cassette Transporters/*genetics , Genetic Diseases, X-Linked/*genetics , Spinocerebellar Ataxias/*genetics, Adenosine Triphosphatases/genetics ; Adult ; Cation Transport Proteins/genetics ; Child ; Copper-Transporting ATPases ; Female ; Genome, Human ; Heterozygote ; Humans ; Infant ; Male ; Pedigree

المؤلفون: Fantin YS; Federal State Institution of Science Central Research Institute of Epidemiology, Moscow, Russia., Neverov AD, Favorov AV, Alvarez-Figueroa MV, Braslavskaya SI, Gordukova MA, Karandashova IV, Kuleshov KV, Myznikova AI, Polishchuk MS, Reshetov DA, Voiciehovskaya YA, Mironov AA, Chulanov VP

المصدر: PloS one [PLoS One] 2013; Vol. 8 (1), pp. e54835. Date of Electronic Publication: 2013 Jan 28.

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Algorithms* , Sequence Analysis, DNA*, Computational Biology/*methods, Genotype ; HIV-1/genetics ; Hepatitis Viruses/classification ; Hepatitis Viruses/genetics ; Humans ; INDEL Mutation ; Mycobacterium tuberculosis/classification ; Mycobacterium tuberculosis/genetics ; Phylogeny ; RNA, Ribosomal, 16S

المؤلفون: Golenkina SA, Gol'tsov AIu, Kuznetsova IL, Grigorenko AP, Andreeva TV, Reshetov DA, Kunizheva SS, Shagam LI, Morozova IIu, Goldenkova-Pavlova IV, Shimshilashvili Kh, Viacheslavova AO, Faskhutdinova G, Gareeva AÉ, Zaĭnullina AG, Khusnutdinova ÉK, Puzyrev VP, Stepanov VA, Kolotvin AV, Samokhodskaia LM, Selezneva ND, Gavrilova SI, Rogaev EI

المصدر: Molekuliarnaia biologiia [Mol Biol (Mosk)] 2010 Jul-Aug; Vol. 44 (4), pp. 620-6.

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

بيانات الدورية: Publisher: Izdatelstvo Nauka Country of Publication: Russia (Federation) NLM ID: 0105454 Publication Model: Print Cited Medium: Print ISSN: 0026-8984 (Print) Linking ISSN: 00268984 NLM ISO Abbreviation: Mol Biol (Mosk) Subsets: MEDLINE

مواضيع طبية MeSH: Alleles*, Alzheimer Disease/*genetics , Clusterin/*genetics , Gene Frequency/*genetics , Polymorphism, Genetic/*genetics, Adult ; Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Cohort Studies ; Female ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Russia/epidemiology