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Genetic diversity, distribution and domestication history of the neglected GGA ^t A ^t genepool of wheat.

Autor: Badaeva ED; N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia. katerinabadaeva@gmail.com.; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia. katerinabadaeva@gmail.com., Konovalov FA; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.; Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, Germany., Knüpffer H; Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, Germany., Fricano A; Council for Agricultural Research and Economics - Research Centre for Genomics & Bioinformatics, Fiorenzuola d'Arda (PC), Italy., Ruban AS; Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, Germany.; KWS SAAT SE & Co. KGaA, Einbeck, Germany., Kehel Z; International Center for the Agricultural Research in the Dry Areas (ICARDA), Rabat, Morocco., Zoshchuk SA; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia., Surzhikov SA; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia., Neumann K; Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, Germany., Graner A; Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, Germany., Hammer K; Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, Germany., Filatenko A; Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, Germany.; Independent Researcher, St. Petersburg, Russia., Bogaard A; School of Archaeology, Oxford, UK., Jones G; Department of Archaeology, University of Sheffield, Sheffield, UK., Özkan H; Department of Field Crops, Faculty of Agriculture, University of Çukurova, Adana, Turkey., Kilian B; Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, Germany.; Global Crop Diversity Trust, Bonn, Germany.

Publikováno v: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2022 Mar; Vol. 135 (3), pp. 755-776. Date of Electronic Publication: 2021 Jul 20.

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.

Autor: Barashkov NA; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation. barashkov2004@mail.ru.; Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation. barashkov2004@mail.ru., Konovalov FA; Genomed Ltd, Moscow, Russian Federation., Borisova TV; Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Teryutin FM; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation., Solovyev AV; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation.; Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Pshennikova VG; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation., Sapojnikova NV; Department of Ophthalmology, Republican Hospital #1 - National Centre of Medicine, Yakutsk, Russian Federation., Vychuzhina LS; Department of Ophthalmology, Republican Hospital #1 - National Centre of Medicine, Yakutsk, Russian Federation., Romanov GP; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation.; Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Gotovtsev NN; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation., Morozov IV; SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation.; Novosibirsk State University, Novosibirsk, Russian Federation., Bondar AA; SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation., Platonov FA; Medical Institute, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Burtseva TE; Medical Institute, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.; Laboratory of the Children Health Monitoring and Medical-environmental Research, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation., Khusnutdinova EK; Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.; Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics, Ufa Federal Research Center of Russian Academy of Sciences, Ufa, Russian Federation.; Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russian Federation., Posukh OL; Novosibirsk State University, Novosibirsk, Russian Federation.; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation., Fedorova SA; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation.; Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jun; Vol. 29 (6), pp. 965-976. Date of Electronic Publication: 2021 Mar 25.

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Autor: Marakhonov AV; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia., Přechová M; Laboratory of Integrative Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.; Signalling and Transcription Laboratory, Francis Crick Institute, London, UK., Konovalov FA; Independent Clinical Bioinformatics Laboratory, Moscow, Russia., Filatova AY; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia., Zamkova MA; Laboratory of Regulatory Mechanisms in Immunity, Institute of Carcinogenesis, N.N. Blokhin Russian Cancer Research Center, Moscow, Russia., Kanivets IV; Laboratory of Molecular Pathology, Genomed Ltd., Moscow, Russia.; Medical Genetic Centre, Filatov Moscow Pediatric Clinical Hospital, Moscow, Russia., Solonichenko VG; Medical Genetic Centre, Filatov Moscow Pediatric Clinical Hospital, Moscow, Russia., Semenova NA; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia., Zinchenko RA; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia.; N.A. Semashko National Research Institute of Public Health, Moscow, Russia., Treisman R; Signalling and Transcription Laboratory, Francis Crick Institute, London, UK., Skoblov MY; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia.

Publikováno v: Clinical genetics [Clin Genet] 2021 May; Vol. 99 (5), pp. 673-683. Date of Electronic Publication: 2021 Jan 27.