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검색어 : 통합검색[Human molecular genetics 3]

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601

PNPLA3 I148M variant and hepatocellular carcinoma: A common genetic variant for a rare disease

Valenti, L.; Dongiovanni, P.; Ginanni Corradini, S.; Burza, M.A.; Romeo, S.; ; (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, v.45, 2013, pp.619-624)
602

Fanconi Anemia Proteins Are Required To Prevent Accumulation of Replication-Associated DNA Double-Strand Breaks

Sobeck, Alexandra; Stone, Stacie; Costanzo, Vincenzo; de Graaf, Bendert; Reuter, Tanja; de Winter, Johan; Wallisch, Michael; Akkari, Yassmine; Olson, Susan; Wang, Weidong; Joenje, Hans; Christian, Jan L.; Lupardus, Patrick J.; Cimprich, Karlene A.; Gautier, Jean; Hoatlin, Maureen E.; Division of Biochemistry and Molecular Biology; Division of Biochemistry and Molecular Biology; Genome Stability Unit, Cancer Research UK, London Research Institute, Clare Hall Laboratories, South Mimms, Herts EN6 3LD, United Kingdom; Division of Biochemistry and Molecular Biology; Division of Biochemistry and Molecular Biology; Department of Clinical Genetics and Human Genetics, Free University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands; Division of Biochemistry and Molecular Biology; Department of Molecular and Medical Genetics; Department of Molecular and Medical Genetics; National Institute on Aging, National Institutes of Health, 333 Cassell Dr., TRIAD Center Room 3000, Baltimore, Maryland 21224; Department of Clinical Genetics and Human Genetics, Free University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands; Department of Cell and Developmental Biology, Oregon Health & Science University, 3181 SW; (Molecular and cellular biology, v.26, 2006, pp.425-437)
603

Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7

Ebert, Grit; Steininger, Anne; Weißmann, Robert; Boldt, Vivien; Lind-Thomsen, Allan; Grune, Jana; Badelt, Stefan; Heßler, Melanie; Peiser, Matthias; Hitzler, Manuel; Jensen, Lars R; Mü ller, Ines; Hu, Hao; Arndt, Peter F; Kuss, Andreas W; Tebel, Katrin; Ullmann, Reinhard; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstraße 42-44, 17475 Greifswald, Germany; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany; Unit Experimental Research, Department of Product Safety, Federal Institute for Bund; (BMC genomics, v.15, 2014, pp.537)
604

217. The neurobehavioral phenotype of the 22Q11.2 deletion syndrome

Bearden, C.E.; Woodin, M.; Moss, E.; Wang, P.; Emanuel, B.S.; McDonald-McGinn, D.M.; Cannon, T.D.; Zackai, E.H.; ; (Biological psychiatry, v.47, 2000, pp.S66-S66)
605

Concerted action of the PHD, chromo and motor domains regulates the human chromatin remodelling ATPase CHD4

Morra, Rosa; Lee, Benjamin M.; Shaw, Heather; Tuma, Roman; Mancini, Erika J.; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; Biochemistry Department, Oxford University, South Parks Road, Oxford OX1 3QU, United Kingdom; Ludwig Institute for Cancer Research Ltd., Oxford University, Old Road Campus Research Building, Headington, Oxford OX3 7DQ, United Kingdom; Astbury Centre for Structural Molecular Biology and Institute of Cellular and Molecular Biology, University of Leeds, LS2 9JT, United Kingdom; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; (FEBS letters, v.586, 2012, pp.2513-2521)
606

Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development

Mitsui, Silvia Naomi; Yasue, Akihiro; Masuda, Kiyoshi; Naruto, Takuya; Minegishi, Yoshiyuki; Oyadomari, Seiichi; Noji, Sumihare; Imoto, Issei; Tanaka, Eiji; Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School , 3-18-15 Kuramoto-cho, Tokushima 770-8504, Japan; Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School , 3-18-15 Kuramoto-cho, Tokushima 770-8504, Japan; Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan; Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan; Division of Molecular Medicine, Institute of Advanced Enzyme Research, Tokushima University , 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan; Division of Molecular Biology, Institute of Advanced Enzyme Re; (Scientific reports, v.6, 2016, pp.38398)
607

Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC

Sieber, O. M.; Heinimann, K.; Gorman, P.; Lamlum, H.; Crabtree, M.; Simpson, C. A.; Davies, D.; Neale, K.; Hodgson, S. V.; Roylance, R. R.; Phillips, R. K. S.; Bodmer, W. F.; Tomlinson, I. P. M.; Molecular and Population Genetics Laboratory, FACS Laboratory, Cancer Research UK, 44 Lincoln's Inn Fields, London WC2A 3PX, United Kingdom; Research Group Human Genetics, Division of Medical Genetics, Department of Clinical and Biological Sciences, Vesalgasse 1, 4031 Basel, Switzerland; Cancer Research UK Colorectal Cancer Unit and Polyposis Registry, St. Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, United Kingdom; Department of Clinical Genetics, Guy's Hospital, St. Thomas Street,...; Molecular and Population Genetics Laboratory, FACS Laboratory, Cancer Research UK, 44 Lincoln's Inn Fields, London WC2A 3PX, United Kingdom; Research Group Human Genetics, Division of Medical Genetics, Department of Clinical and Biological Sciences, Vesalgasse 1, 4031 Basel, Switzerland; Cancer Research UK Colorectal Cancer Unit and Polyposis Registry, St. Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, United Kingdom; Department of Clinical Genetics, Guy's Hospital, St. Thomas S; (Proceedings of the National Academy of Sciences of the United States of America, v.99, 2002, pp.16910-16915)
608

The structure of the negative transcriptional regulator NmrA reveals a structural superfamily which includes the short‐chain dehydrogenase/reductases

Stammers, D.K.; Ren, J.; Leslie, K.; Nichols, C.E.; Lamb, H.K.; Cocklin, S.; Dodds, A.; Hawkins, A.R.; ¹Structural Biology Division, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, ²Oxford Centre for Molecular Sciences, New Chemistry Building, South Parks Road, Oxford OX1 3QT and ⁴School of Biochemistry and Genetics, Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle NE2 4HH, UK ³Corresponding author e‐ mail: daves@strubi.ox.ac.uk; ¹Structural Biology Division, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, ²Oxford Centre for Molecular Sciences, New Chemistry Building, South Parks Road, Oxford OX1 3QT and ⁴School of Biochemistry and Genetics, Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle NE2 4HH, UK ³Corresponding author e‐ mail: daves@strubi.ox.ac.uk; ¹Structural Biology Division, The Wellcome Trust Centre f; (The EMBO journal, v.20, 2001, pp.6619-6626)
609

Structural basis for extracellular cis and trans RPTPσ signal competition in synaptogenesis

Coles, Charlotte H.; Mitakidis, Nikolaos; Zhang, Peng; Elegheert, Jonathan; Lu, Weixian; Stoker, Andrew W.; Nakagawa, Terunaga; Craig, Ann Marie; Jones, E. Yvonne; Aricescu, A. Radu; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford , Roosevelt Drive, Oxford OX3 7BN, UK; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford , Roosevelt Drive, Oxford OX3 7BN, UK; Brain Research Centre and Department of Psychiatry, University of British Columbia , Vancouver, British Columbia, Canada V6T 2B5; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford , Roosevelt Drive, Oxford OX3 7BN, UK; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford , Roosevelt Drive, Oxford OX3 7BN, UK; Cancer Section, Institute of Child Health, University College London , 30 Guilford Street, London WC1N 1EH, UK; Department of Molecular Physiology and Biophysics, Vanderbilt University,; (Nature communications, v.5, 2014, pp.5209)
610

Reversible infertility in male mice after oral administration of alkylated imino sugars: A nonhormonal approach to male contraception

van der Spoel, Aarnoud C.; Jeyakumar, Mylvaganam; Butters, Terry D.; Charlton, Harry M.; Moore, Harry D.; Dwek, Raymond A.; Platt, Frances M.; The Glycobiology Institute, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, United Kingdom, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom; and Department of Molecular Biology and Biotechnology, University of Sheffield, Sheffield S10 2UH, United Kingdom; The Glycobiology Institute, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, United Kingdom, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom; and Department of Molecular Biology and Biotechnology, University of Sheffield, Sheffield S10 2UH, United Kingdom; The Glycobiology Institute, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, United Kingdom, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom; and Department of Molecular Biology and Bi; (Proceedings of the National Academy of Sciences of the United States of America, v.99, 2002, pp.17173-17178)

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