검색어 : 통합검색[Human molecular genetics 3]
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671
- Mutations in <i>CDK5RAP2</i> cause Seckel syndrome
- Yigit, Gö khan; Brown, Karen E; Kayserili, Hü lya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Bö gershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nü rnberg, Gudrun; Nü rnberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd; Institute of Human Genetics, University of Cologne Cologne, Germany; Chromosome Biology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital London, W12 0NN, UK; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey; Institute of Human Genetics, University of Cologne Cologne, Germany; Institute of Human Genetics, Christian-Albrechts-University of Kiel Kiel, Germany; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg Erlangen, Germany; Department of Clinical Genetics, Great Ormond Street Hospital for Children London, WC1N 3EH, UK; Institute of Human Genetics, University of Cologne Cologne, Germany; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germa; (Molecular genetics & genomic medicine, v.3, 2015, pp.467-480)
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672
- The peroxisome proliferator-activated receptor-γ agonist troglitazone inhibits transforming growth factor-β-mediated glioma cell migration and brain invasion
- Coras, Roland; Hö lsken, Annett; Seufert, Sebastian; Hauke, Jan; Eyü poglu, Ilker Y.; Reichel, Martin; Trä nkle, Christian; Siebzehnrü bl, Florian A.; Buslei, Rolf; Blü mcke, Ingmar; Hahnen, Eric; 1Neuropathology, Departments of; 1Neuropathology, Departments of; 4Institute of Human Genetics, Institute of Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; and; 4Institute of Human Genetics, Institute of Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; and; 2Neurosurgery, and; 3Experimental Medicine II, University of Erlangen, Erlangen, Germany; ; 5Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Bonn, Bonn, Germany; 1Neuropathology, Departments of; 1Neuropathology, Departments of; 1Neuropathology, Departments of; 1Neuropathology, Departments of; (Molecular cancer therapeutics, v.6, 2007, pp.1745-1754)
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673
- A Human Embryonic Kidney 293T Cell Line Mutated at the Golgi α-Mannosidase II Locus
- Crispin, Max; Chang, Veronica T.; Harvey, David J.; Dwek, Raymond A.; Evans, Edward J.; Stuart, David I.; Jones, E. Yvonne; Lord, J. Michael; Spooner, Robert A.; Davis, Simon J.; From the Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN,; Weatherall Institute of Molecular Medicine, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS,; Oxford Glycobiology Institute, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, and; Oxford Glycobiology Institute, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, and; Weatherall Institute of Molecular Medicine, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS,; From the Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN,; From the Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headin; (The Journal of biological chemistry, v.284, 2009, pp.21684-21695)
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674
- Activation and suppression of renin–angiotensin system in human dendritic cells
- Lapteva, Natalia; Ide, Kazuki; Nieda, Mie; Ando, Yoshitaka; Hatta-Ohashi, Yoko; Minami, Mutsuhiko; Dymshits, Grigory; Egawa, Koichi; Juji, Takeo; Tokunaga, Katsushi; Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-0033, Japan; Department of Immunology, Yokohama City University, School of Medicine, Tokyo, Japan; Department of Immunology, Yokohama City University, School of Medicine, Tokyo, Japan; Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-0033, Japan; Olympus Optical Co., Ltd., Tokyo, Japan; Department of Immunology, Yokohama City University, School of Medicine, Tokyo, Japan; Laboratory of Genome Structure, Institute of Cytology and Genetics, Novosibirsk, Russia; Laboratory of Molecular Immunology, MEDINET Co., Ltd., Tokyo, Japan; Research Section, Japanese Red Cross Central Blood Center, Tokyo, Japan; Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-0033, Japan; (Biochemical and biophysical research communications, v.296, 2002, pp.194-200)
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675
- Detecting epistasis in human complex traits
- Wei, Wen-Hua; Hemani, Gibran; Haley, Chris S.; 1] Arthritis Research UK Centre for Genetics and Genomics, Institute of Inflammation and Repair, University of Manchester, Manchester M13 9PT, UK. [2] Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. [3]; 1] MRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, UK. [2] Queensland Brain Institute Centre, University of Queensland, Brisbane, Queensland 4072, Australia. [3] University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland 4072, Australia. [4]; 1] Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. [2] The Roslin Institute and Royal (Dick) School of Veterinary Sciences, University of Edinburgh, Midlothian EH25 9RG, UK.; (Nature reviews. Genetics, v.15, 2014, pp.722-733)
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676
- The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease
- Reijns, Martin A. M.; Bubeck, Doryen; Gibson, Lucien C. D.; Graham, Stephen C.; Baillie, George S.; Jones, E. Yvonne; Jackson, Andrew P.; From the Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, United Kingdom,; the Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom,; the Institute of Neuroscience and Psychology, School of Life Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, Scotland, United Kingdom, and; the Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom,; the Institute of Neuroscience and Psychology, School of Life Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, Scotland, United Kingdom, and; the Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom,; From the Medical Research Council Human Genetics; (The Journal of biological chemistry, v.286, 2011, pp.10530-10539)
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677
- Temporal evolution of sulfadoxine-pyrimethamine resistance genotypes and genetic diversity in response to a decade of increased interventions against <i>Plasmodium falciparum</i> in northern Ghana
- Amenga-Etego, Lucas N.; Asoala, Victor; Agongo, Godfred; Jacob, Christopher; Goncalves, Sonia; Awandare, Gordon A.; Rockett, Kirk A.; Kwiatkowski, Dominic; West African Centre for Cell Biology of Infectious Pathogens, Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon, Accra, Ghana; Navrongo Health Research Centre, Ghana Health Service, P. O. Box 114, Navrongo, Ghana; Navrongo Health Research Centre, Ghana Health Service, P. O. Box 114, Navrongo, Ghana; Wellcome Centre for Human Genetics, University of Oxford, Headington, Oxford, OX3 7BN UK; Wellcome Centre for Human Genetics, University of Oxford, Headington, Oxford, OX3 7BN UK; West African Centre for Cell Biology of Infectious Pathogens, Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon, Accra, Ghana; Wellcome Centre for Human Genetics, University of Oxford, Headington, Oxford, OX3 7BN UK; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire UK; (Malaria journal, v.20, 2021, pp.152)
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678
- Two novel proteins recruited by synaptonemal complex protein 1 (SYCP1) are at the centre of meiosis
- Costa, Yael; Speed, Robert; Ö llinger, Rupert; Alsheimer, Manfred; Semple, Colin A.; Gautier, Philippe; Maratou, Klio; Novak, Ivana; Hö ö g, Christer; Benavente, Ricardo; Cooke, Howard J.; MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh, EH4 2XU, UK; MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh, EH4 2XU, UK; Department of Cell and Developmental Biology, Biocenter of the University of Wü rzburg, 97074 Wü rzburg, Germany; Department of Cell and Developmental Biology, Biocenter of the University of Wü rzburg, 97074 Wü rzburg, Germany; MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh, EH4 2XU, UK; MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh, EH4 2XU, UK; MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh, EH4 2XU, UK; Center for Genomics and Bioinformatics (CGB) and Department of Cell and Molecular Biology (CMB), Karolinska Institutet, Berzelius vä g 35, S-171 77 Stockholm, Sweden; Center for Genomics and Bioinformatics (CGB) and Department of Cell and Molecular Biology (CMB), Karolinska Institutet, Berzelius vä g 3; (Journal of cell science, v.118, 2005, pp.2755-2762)
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679
- MHC loci affecting cervical cancer risk: distinguishing the effects of HLA-DQB1 and non-HLA genes TNF, LTA, TAP1 and TAP2
- Ivansson, E L; Magnusson, J J; Magnusson, P K E; Erlich, H A; Gyllensten, U B; 1Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden; 1Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden; 2Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden; 3Department of Human Genetics, Roche Molecular Systems, Alameda, CA, USA; 1Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden; (Genes and immunity, v.9, 2008, pp.613-623)
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680
- Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase
- Cobbold, Christian; Ponnambalam, Sreenivasan; Francis, Michael J.; Monaco, Anthony P.; ; (Human molecular genetics, v.11, 2002, pp.2855-2866)
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