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검색어 : 통합검색[Human molecular genetics 3]

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141

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability

Yeyati, Patricia L.; Schiller, Rachel; Mali, Girish; Kasioulis, Ioannis; Kawamura, Akane; Adams, Ian R.; Playfoot, Christopher; Gilbert, Nick; van Heyningen, Veronica; Wills, Jimi; von Kriegsheim, Alex; Finch, Andrew; Sakai, Juro; Schofield, Christopher J.; Jackson, Ian J.; Mill, Pleasantine; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU Scotland, UK; Department of Chemistry, Chemistry Research Laboratory, OX1 3TA Oxford, England, UK; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU Scotland, UK; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU Scotland, UK; Department of Chemistry, Chemistry Research Laboratory, OX1 3TA Oxford, England, UK; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU Scotland, UK; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western; (The Journal of cell biology, v.216, 2017, pp.999-1013)
142

A7.15 Lack of Association of Variants Previously Associated with Anti-TNF Medication Response in Rheumatoid Arthritis Patients: Results from a Homogeneous Greek Population

Zervou, MI; Sidiropoulos, P; Myrthianou, E; Flouri, I; Plant, D; Rapsomaniki, P; Barton, A; Boumpas, DT; Goulielmos, GN; ¹Laboratory of Molecular Medicine and Human Genetics, Medical School of Crete, Greece; ²Department of Rheumatology, Clinical Immunology and Allergy, University Hospital of Heraklion, Greece; ¹Laboratory of Molecular Medicine and Human Genetics, Medical School of Crete, Greece; ²Department of Rheumatology, Clinical Immunology and Allergy, University Hospital of Heraklion, Greece; ³; ²Department of Rheumatology, Clinical Immunology and Allergy, University Hospital of Heraklion, Greece; ³; ⁴Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology, Heraklion, Greece; ¹Laboratory of Molecular Medicine and Human Genetics, Medical School of Crete, Greece; (Annals of the rheumatic diseases : the official journal, v.72, 2013, pp.A53-A53)
143

Aging results in hypermethylation of ribosomal DNA in sperm and liver of male rats

Oakes, Christopher C.; Smiraglia, Dominic J.; Plass, Christoph; Trasler, Jacquetta M.; Robaire, Bernard; Departments of Pharmacology and Therapeutics, Obstetrics and Gynecology, Pediatrics, Human Genetics, and The Montreal Children's Hospital Research Institute, McGill University, Montreal, QC, Canada H3H 1P3; and Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210; Departments of Pharmacology and Therapeutics, Obstetrics and Gynecology, Pediatrics, Human Genetics, and The Montreal Children's Hospital Research Institute, McGill University, Montreal, QC, Canada H3H 1P3; and Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210; Departments of Pharmacology and Therapeutics, Obstetrics and Gynecology, Pediatrics, Human Genetics, and The Montreal Children's Hospital Research Institute, McGill University, Montreal, QC, Canada H3H 1P3; and Division of Human; (Proceedings of the National Academy of Sciences of the United States of America, v.100, 2003, pp.1775-1780)
144

Loss of microRNA cluster miR-29a/b-1 in sporadic Alzheimer's disease correlates with increased BACE1/β-secretase expression

Hé bert, Sé bastien S.; Horré , Katrien; Nicolaï , Laura; Papadopoulou, Aikaterini S.; Mandemakers, Wim; Silahtaroglu, Asli N.; Kauppinen, Sakari; Delacourte, André ; De Strooper, Bart; *Center for Human Genetics, Katholieke Universiteit Leuven and; *Center for Human Genetics, Katholieke Universiteit Leuven and; *Center for Human Genetics, Katholieke Universiteit Leuven and; *Center for Human Genetics, Katholieke Universiteit Leuven and; *Center for Human Genetics, Katholieke Universiteit Leuven and; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark; ; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark; ; Institut National de la Santé et de la Recherche Mé dicale, U. 837, Bâ timent G. Biserte, 1 Place de Verdun, 59045 Lille Cedex, France; *Center for Human Genetics, Katholieke Universiteit Leuven and; (Proceedings of the National Academy of Sciences of the United States of America, v.105, 2008, pp.6415-6420)
145

Deletion of the protein tyrosine phosphatase gene PTPN2 in T-cell acute lymphoblastic leukemia

Kleppe, Maria; Lahortiga, Idoya; El Chaar, Tiama; De Keersmaecker, Kim; Mentens, Nicole; Graux, Carlos; Van Roosbroeck, Katrien; Ferrando, Adolfo A; Langerak, Anton W; Meijerink, Jules P P; Sigaux, Franç ois; Haferlach, Torsten; Wlodarska, Iwona; Vandenberghe, Peter; Soulier, Jean; Cools, Jan; [1] Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium. [2] Center for Human Genetics, K.U. Leuven, Leuven, Belgium.; [1] Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium. [2] Center for Human Genetics, K.U. Leuven, Leuven, Belgium.; INSERM U944 and Hematology Laboratory, Hô pital Saint-Louis, Institut Universitaire d′Hé matologie, Paris, France.; [1] Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium. [2] Center for Human Genetics, K.U. Leuven, Leuven, Belgium. [3] Institute for Cancer Genetics, Columbia University Medical Center, New York, New York, USA.; [1] Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium. [2] Center for Human Genetics, K.U. Leuven, Leuven, Belgium.; Cliniques universitaires de Mont-Godinne, Yvoir, Belgium.; [1] Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium. [2] Center for Human Genetics, K.U. Leuven, Leuven, Belgium.; [1] Insti; (Nature genetics, v.42, 2010, pp.530-535)
146

The role of protein complexes in human genetic disease

Bergendahl, L. Therese; Gerasimavicius, Lukas; Miles, Jamilla; Macdonald, Lewis; Wells, Jonathan N.; Welburn, Julie P. I.; Marsh, Joseph A.; MRC Human Genetics Unit, Institute of Genetics & Molecular Medicine University of Edinburgh Edinburgh EH4 2XU United Kingdom; MRC Human Genetics Unit, Institute of Genetics & Molecular Medicine University of Edinburgh Edinburgh EH4 2XU United Kingdom; MRC Human Genetics Unit, Institute of Genetics & Molecular Medicine University of Edinburgh Edinburgh EH4 2XU United Kingdom; MRC Human Genetics Unit, Institute of Genetics & Molecular Medicine University of Edinburgh Edinburgh EH4 2XU United Kingdom; Department of Molecular Biology and Genetics Cornell University Ithaca New York 14850; Wellcome Trust Centre for Cell Biology, School of Biological Sciences University of Edinburgh Edinburgh EH9 3BF United Kingdom; MRC Human Genetics Unit, Institute of Genetics & Molecular Medicine University of Edinburgh Edinburgh EH4 2XU United Kingdom; (Protein science : a publication of the Protein Society, v.28, 2019, pp.1400-1411)
147

Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the <i>Tuba1a</i> mutant mouse

Edwards, A.; Treiber, C.D.; Breuss, M.; Pidsley, R.; Huang, G.-J.; Cleak, J.; Oliver, P.L.; Flint, J.; Keays, D.A.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK; Institute of Molecular Pathology, Dr. Bohr-Gasse 1030, Vienna, Austria; Institute of Molecular Pathology, Dr. Bohr-Gasse 1030, Vienna, Austria; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK; Medical Research Council, Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK; Medical Research Council, Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK; (Neuroscience, v.195, 2011, pp.191-200)
148

Rapid identification and 3D reconstruction of complex cardiac malformations in transgenic mouse embryos using fast gradient echo sequence magnetic resonance imaging

Schneider, Jü rgen E.; Bamforth, Simon D.; Farthing, Cassandra R.; Clarke, Kieran; Neubauer, Stefan; Bhattacharya, Shoumo; ; (Journal of molecular and cellular cardiology, v.35, 2003, pp.217-222)
149

Expression of Simian Virus 40 Large T Antigen in Embryonal Carcinoma Cell Hybrids

Tunnacliffe, A.; Crawford, L. V.; Goodfellow, P.; Laboratory of Human Molecular Genetics, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, United Kingdom; Laboratory of Molecular Virology, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, United Kingdom; Laboratory of Human Molecular Genetics, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, United Kingdom; (Molecular and cellular biology, v.4, 1984, pp.1657-1660)
150

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, Hossein; Hu, Hao; Garshasbi, Masoud; Zemojtel, Tomasz; Abedini, Seyedeh Sedigheh; Chen, Wei; Hosseini, Masoumeh; Behjati, Farkhondeh; Haas, Stefan; Jamali, Payman; Zecha, Agnes; Mohseni, Marzieh; P체ttmann, Lucia; Vahid, Leyla Nouri; Jensen, Corinna; Moheb, Lia Abbasi; Bienek, Melanie; Larti, Farzaneh; Mueller, Ines; Weissmann, Robert; Darvish, Hossein; Wrogemann, Klaus; Hadavi, Valeh; Lipkowitz, Bettina; Esmaeeli-Nieh, Sahar; Wieczorek, Dagmar; Kariminejad, Roxana; Firouzabadi, Saghar Ghasemi; Cohen, Monika; Fattahi, Zohreh; Rost, Imma; Mojahedi, Faezeh; Hertzberg, Christoph; Dehghan, Atefeh; Rajab, Anna; Banavandi, Mohammad Javad Soltani; Hoffer, Julia; Falah, Masoumeh; Musante, Luciana; Kalscheuer, Vera; Ullmann, Reinhard; Kuss, Andreas Walter; Tzschach, Andreas; Kahrizi, Kimia; Ropers, H. Hilger; 1] Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, 19857 Tehran, Iran [2] Kariminejad-Najmabadi Pathology & Genetics Centre, 14667 Tehran, Iran; 1] Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany [2]; 1] Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, 19857 Tehran, Iran [2] Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany [3]; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, 19857 Tehran, Iran; 1] Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany [2] Max-Delbrueck-Centrum f체r Molekulare Medizin, 13092 Berlin, Germany; Genetics Research Center, University of Social Welfare and Rehabilitation Science; (Nature, v.478, 2011, pp.57-63)

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