검색어 : 통합검색[Human molecular genetics 3]
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131
- DNA ligase gene disruptions can depress viral growth and replication in poxvirus-infected cells
- Parks, Robin J; Winchcombe-Forhan, C; DeLange, A.M; Xing, X; Evans, David H; ; (Virus research : an international journal of molecular and cellular virology, v.56, 1998, pp.135-147)
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132
- Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
- Ramirez, Alfredo; Heimbach, André ; Grü ndemann, Jan; Stiller, Barbara; Hampshire, Dan; Cid, L Pablo; Goebel, Ingrid; Mubaidin, Ammar F; Wriekat, Abdul-Latif; Roeper, Jochen; Al-Din, Amir; Hillmer, Axel M; Karsak, Meliha; Liss, Birgit; Woods, C Geoffrey; Behrens, Maria I; Kubisch, Christian; [1] Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany. [2] Institute for Genetics, University of Cologne, 50931 Cologne, Germany. [3] Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany. [4] Institute of Human Genetics, University of Bonn, 53111 Bonn, Germany.; [1] Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany. [2] Institute for Genetics, University of Cologne, 50931 Cologne, Germany. [3] Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.; Institute of Physiology, University of Marburg, 35037 Marburg, Germany.; [1] Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany. [2] Institute for Genetics, University of Cologne, 50931 Cologne, Germany. [3] Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.; Molecular Medicine Unit, University of Leeds, Leeds LS9 7TF, UK.; Centro de Estudios Cientí ficos (CECS); (Nature genetics, v.38, 2006, pp.1184-1191)
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133
- Replicative DNA polymerase mutations in cancer <sup>☆</sup>
- Heitzer, Ellen; Tomlinson, Ian; Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK; (Current opinion in genetics & development, v.24, 2014, pp.107-113)
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134
- A practical solution for preserving single cells for RNA sequencing
- Attar, Moustafa; Sharma, Eshita; Li, Shuqiang; Bryer, Claire; Cubitt, Laura; Broxholme, John; Lockstone, Helen; Kinchen, James; Simmons, Alison; Piazza, Paolo; Buck, David; Livak, Kenneth J.; Bowden, Rory; Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN UK; Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN UK; Broad Institute of MIT and Harvard, 415 Main St, Cambridge, MA 02142 USA; Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN UK; Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN UK; Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN UK; Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN UK; MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS UK; MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS UK; (Scientific reports, v.8, 2018, pp.2151)
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135
- A7DB: a relational database for mutational, physiological and pharmacological data related to the α7 nicotinic acetylcholine receptor
- Buckingham, Steven D; Pym, Luanda; Jones, Andrew K; Brown, Laurence; Sansom, Mark SP; Sattelle, David B; Biggin, Philip C; Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU. UK; MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX. UK; MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX. UK; MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX. UK; Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU. UK; MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX. UK; Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU. UK; (BMC neuroscience, v.6, 2005, pp.2-2)
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136
- Increased LIS1 expression affects human and mouse brain development
- Bi, Weimin; Sapir, Tamar; Shchelochkov, Oleg A; Zhang, Feng; Withers, Marjorie A; Hunter, Jill V; Levy, Talia; Shinder, Vera; Peiffer, Daniel A; Gunderson, Kevin L; Nezarati, Marjan M; Ann Shotts, Vern; Amato, Stephen S; Savage, Sarah K; Harris, David J; Day-Salvatore, Debra-Lynn; Horner, Michele; Lu, Xin-Yan; Sahoo, Trilochan; Yanagawa, Yuchio; Beaudet, Arthur L; Cheung, Sau Wai; Martinez, Salvador; Lupski, James R; Reiner, Orly; [1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. [2] Medical Genetics Laboratories, Baylor College of Medicine, Houston, Texas 77030, USA. [3] These authors contributed equally to this work.; [1] Department of Molecular Genetics, The Weizmann Institute of Science, 76100 Rehovot, Israel. [2] These authors contributed equally to this work.; [1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. [2] Texas Children's Hospital, Houston, Texas 77030, USA. [3] These authors contributed equally to this work.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Texas Children's Hospital, Houston, Texas 77030, USA.; Department of Molecular Genetics, The Weizmann Institute of Science, 76100 Rehovot, Israel.; Department of Chemical Research Supp; (Nature genetics, v.41, 2009, pp.168-177)
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137
- Reply to Inácio et al
- Khajavi, Mehrdad; Lupski, James R; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; [1] 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] 2Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA [3] 3Texas Children's Hospital, Houston, TX, USA. E-mail: jlupski@bcm.tmc.edu; (European journal of human genetics : EJHG, v.15, 2007, pp.534-534)
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138
- Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
- Koenekoop, Robert K; Wang, Hui; Majewski, Jacek; Wang, Xia; Lopez, Irma; Ren, Huanan; Chen, Yiyun; Li, Yumei; Fishman, Gerald A; Genead, Mohammed; Schwartzentruber, Jeremy; Solanki, Naimesh; Traboulsi, Elias I; Cheng, Jingliang; Logan, Clare V; McKibbin, Martin; Hayward, Bruce E; Parry, David A; Johnson, Colin A; Nageeb, Mohammed; Poulter, James A; Mohamed, Moin D; Jafri, Hussain; Rashid, Yasmin; Taylor, Graham R; Keser, Vafa; Mardon, Graeme; Xu, Huidan; Inglehearn, Chris F; Fu, Qing; Toomes, Carmel; Chen, Rui; 1] McGill Ocular Genetics Laboratory, McGill University Health Centre, Montreal, Quebec, Canada. [2]; 1] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. [2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [3]; Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; McGill Ocular Genetics Laboratory, McGill University Health Centre, Montreal, Quebec, Canada.; McGill Ocular Genetics Laboratory, McGill University Health Centre, Montreal, Quebec, Canada.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 1] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. [2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Chicago Lighthouse for People wh; (Nature genetics, v.44, 2012, pp.1035-1039)
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139
- 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)
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140
- 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)
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