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1.
Limborska  S. A. 《Molecular Biology》2004,38(1):100-109
The review covers selected research topics in the fields of medical and ethnic genomics conducted at the Department of Molecular Bases of Human Genetics, the Institute of Molecular Genetics. Primary concern is given to genetic causes of monogenic neurological disorders, among them hepatolenticular degeneration (Wilson disease), torsion dystonia, and myotonic dystrophy. Results of polymorphic DNA marker surveys in Russia and neighboring countries are also presented.  相似文献   

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The review covers selected research topics in fields of medical and ethnic genomics tackled at the Department of Molecular Basis of Human Genetics, the Institute of Molecular Genetics. Primary concern is given to genetic causes of monogenic neurological disorders, among them hepatolenticular degeneration (Wilson's disease), torsion dystonia, and myotonic dystrophy. Results of polymorphic DNA marker surveys in Russia and neighboring countries are also presented.  相似文献   

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Brain-specific human genes were studied over the recent years in the Department of Molecular Bases of Human Genetics, Institute of Molecular Genetics. Clones Hfb1, Hmob3, and Hmob33 were selected from human brain cDNA libraries by differential screening. The clones were sequenced, mapped, and tested for expression in various human tissues. In vitro and in silico experiments identified Hfb1 as an earlier unknown complexin 2 gene (CPLX2) fragment, which codes for the large 3'-untranslated region of the CPLX2 mRNA. Hmob3 proved to correspond to an earlier unknown fragment of the large 3'-untranslated region of the human MAP1B mRNA. With Hfb1 and Hmob3, new terminal exons were revealed and exact structures established for CPLX2 and MAP1B. Hmob33 was identified as a fragment of the 3'-terminal exon of a new gene, MOB, which codes for a thus far unknown evolutionarily conserved transmembrane protein. The structure of the deduced protein product was analyzed.  相似文献   

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Statistics in Human Genetics and Molecular Biology (C. Reilly) Xiang‐Yang Lou and David B. Allison Meta‐Analysis and Combining Information in Genetics and Genomics (R. Guerra and D. R. Goldstein) Peter H. Westfall Multivariate Nonparametric Methods with R. An Approach Based on Spatial Signs and Ranks (H. Oja) Mia Hubert Bayesian Analysis for Population Ecology (R. King, B. J. T. Morgan, O. Gimenez, and S. Brooks) Simon Bonner The Oxford Handbook of Functional Data Analysis (F. Ferraty and Y. Romain, Editors) Paul H. C. Eilers Design and Analysis of Experiments with SAS (J. Lawson) Francis Giesbrecht Spatial Statistics and Modeling (C. Gaetan and X. Guyon) Paulo J. Ribeiro Jr. Applied Statistical Genetics with R: For Population‐Based Association Studies (A. S. Foulkes) Kui Zhang  相似文献   

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Brain-specific human genes were studied over the recent years in the Department of Molecular Bases of Human Genetics, Institute of Molecular Genetics. Clones Hfb1, Hmob3, and Hmob33 were selected from human brain cDNA libraries by differential screening. The clones were sequenced, mapped, and tested for expression in various human tissues. In vitro and in silico experiments identified Hfb1 as an earlier unknown complexin 2 gene (CPLX2) fragment, which codes for the large 3"-untranslated region of the CPLX2 mRNA. Hmob3 proved to correspond to an earlier unknown fragment of the large 3"-untranslated region of the human MAP1B mRNA. With Hfb1 and Hmob3, new terminal exons were revealed and exact structures established for CPLX2 and MAP1B. Hmob33 was identified as a fragment of the 3"-terminal exon of a new gene, MOB, which codes for a yet unknown evolutionarily conserved transmembrane protein. The structure of the deduced protein product was analyzed.  相似文献   

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A report on the 12th International Congress of Human Genetics, joint with the 61st annual American Society of Human Genetics conference, Montreal, Quebec, 11-15 October 2011.  相似文献   

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A report on the 12th International Congress of Human Genetics, joint with the 61st annual American Society of Human Genetics conference, Montreal, Quebec, 11-15 October 2011.  相似文献   

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Physical chromosome mapping by fluorescence in situ hybridization (FISH) is among the major lines of research on the human genome (as well as genomes of numerous other organisms). To localize particular genes or anonymous DNA sequences on individual chromosomes or chromosome regions, FISH was developed in the late 1980s and early 1990s, when the International Human Genome Project and the Russian program Human Genome were launched. Now FISH continues to play a prominent part in studies of the human genome. The review considers the major steps of FISH development in Russia with special emphasis on the key roles of the Institute of Cytology and Genetics (Novosibirsk) and Engelhardt Institute of Molecular Biology (Moscow). Physical mapping of human chromosomes 3 and 13 by FISH is described in detail. The promotion of FISH in Russia contributed to the progress in the related fields such as comparative animal genomics (ZOO-FISH) and studies of plant chromosomes.  相似文献   

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Physical chromosome mapping by fluorescence in situ hybridization (FISH) is among the major lines of research on the human genome (as well as genomes of numerous other organisms). To localize particular genes or anonymous DNA sequences on individual chromosomes or chromosome regions, FISH was developed in the late 1980s and early 1990s, when the International Human Genome Project and the Russian program Human Genome were launched. Now FISH continues to play a prominent part in studies of the human genome. The review considers the major steps of FISH development in Russia, with special emphasis on the key roles of the Institute of Cytology and Genetics (Novosibirsk) and Engelhardt Institute of Molecular Biology (Moscow). Physical mapping of human chromosomes 3 and 13 by FISH is described in detail. The acquisition of FISH in Russia contributed to the progress in the related fields such as comparative animal genomics (ZOOFISH) and studies of plant chromosomes.  相似文献   

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Molecular Genetics and Genomics -  相似文献   

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Molecular Genetics and Genomics -  相似文献   

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Molecular Genetics and Genomics -  相似文献   

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