검색어 : 통합검색[Human molecular genetics 3]
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81
- Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
- Zhang, Chaofan; Jolly, Angad; Shayota, Brian J.; Mazzeu, Juliana F.; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; Ramalho de Lima, Ariadne; Ferreira, Bá rbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D.; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N.; Potocki, Lorraine; Chung, Wendy K.; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A.; Mason, Kati; Pollack, Lynda C.; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S.; Leahy, Peter; Powell, Cynthia M.; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R.; Filho, Vicente Odone; Genomics England Research Consortium; Muzny, Donna M.; Gibbs, Richard A.; Posey, Jennifer E.; Liu, Pengfei; Lupski, James R.; Sutton, V. Reid; Carvalho, Claudia; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; University of Brasilia, Brasilia 70050, Brazil; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; GeneDx Inc., Gaithersburg, MD 20878, USA; University of Brasilia, Brasilia 70050, Brazil; University of Brasilia, Brasilia 70050, Brazil; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK; Cardiothoracic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK; NHS Lothian, Edinburgh EH1 3EG, UK; Oxford Centre for Genomic Medicine, Oxford University; (Hgg advances, v.3, 2022, pp.100074)
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82
- From developmental disorder to heritable cancer: it's all in the BMP/TGF-β family
- Waite, Kristin A.; Eng, Charis; Human Cancer Genetics and Clinical Cancer Genetics Programs, Comprehensive Cancer Center, Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, Columbus, Ohio 43210, USA.; [1] Human Cancer Genetics and Clinical Cancer Genetics Programs, Comprehensive Cancer Center, Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, Columbus, Ohio 43210, USA. [2] Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA. [3] Cancer Research UK Human Cancer Genetics Research Group, University of Cambridge, Cambridge CB2 2XZ, UK.; (Nature reviews. Genetics, v.4, 2003, pp.763-773)
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83
- Securin Is Not Required for Chromosomal Stability in Human Cells
- Pfleghaar, Katrin; Heubes, Simone; Cox, Jü rgen; Stemmann, Olaf; Speicher, Michael R; 1 Institute of Human Genetics, Technical University Munich, Munich, Germany,; 3 Department of Molecular Cell Biology, Max Planck Institute of Biochemistry, Martinsried, Germany,; 4 Genedata GmbH, Martinsried, Germany; 3 Department of Molecular Cell Biology, Max Planck Institute of Biochemistry, Martinsried, Germany,; 1 Institute of Human Genetics, Technical University Munich, Munich, Germany,; (PLoS biology, v.3, 2005, pp.e416)
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84
- Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
- Chen, Lu; Ge, Bing; Casale, Francesco Paolo; Vasquez, Louella; Kwan, Tony; Garrido-Martí n, Diego; Watt, Stephen; Yan, Ying; Kundu, Kousik; Ecker, Simone; Datta, Avik; Richardson, David; Burden, Frances; Mead, Daniel; Mann, Alice L.; Fernandez, Jose Maria; Rowlston, Sophia; Wilder, Steven P.; Farrow, Samantha; Shao, Xiaojian; Lambourne, John J.; Redensek, Adriana; Albers, Cornelis A.; Amstislavskiy, Vyacheslav; Ashford, Sofie; Berentsen, Kim; Bomba, Lorenzo; Bourque, Guillaume; Bujold, David; Busche, Stephan; Caron, Maxime; Chen, Shu-Huang; Cheung, Warren; Delaneau, Oliver; Dermitzakis, Emmanouil T.; Elding, Heather; Colgiu, Irina; Bagger, Frederik O.; Flicek, Paul; Habibi, Ehsan; Iotchkova, Valentina; Janssen-Megens, Eva; Kim, Bowon; Lehrach, Hans; Lowy, Ernesto; Mandoli, Amit; Matarese, Filomena; Maurano, Matthew T.; Morris, John A.; Pancaldi, Vera; Pourfarzad, Farzin; Rehnstrom; Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; Human Genetics, McGill University, 740 Dr. Penfield, Montreal, QC H3A 0G1, Canada; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK; Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; Human Genetics, McGill University, 740 Dr. Penfield, Montreal, QC H3A 0G1, Canada; Bioinformatics and Genomics, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Carrer del Dr. Aiguader, 88, Barcelona 8003, Spain; Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; Department; (Cell, v.167, 2016, pp.1398-1414.e24)
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85
- Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy
- Findlay, John M.; Castro-Giner, Francesc; Makino, Seiko; Rayner, Emily; Kartsonaki, Christiana; Cross, William; Kovac, Michal; Ulahannan, Danny; Palles, Claire; Gillies, Richard S.; MacGregor, Thomas P.; Church, David; Maynard, Nicholas D.; Buffa, Francesca; Cazier, Jean-Baptiste; Graham, Trevor A.; Wang, Lai-Mun; Sharma, Ricky A.; Middleton, Mark; Tomlinson, Ian; Molecular and Population Genetics Laboratory, Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive , Oxford OX3 7BN, UK; Molecular and Population Genetics Laboratory, Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive , Oxford OX3 7BN, UK; Molecular and Population Genetics Laboratory, Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive , Oxford OX3 7BN, UK; Molecular and Population Genetics Laboratory, Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive , Oxford OX3 7BN, UK; Department of Oncology, Old Road Campus Research Building , Oxford OX3 7DQ, UK; Evolution and Cancer Laboratory, Bart's Cancer I; (Nature communications, v.7, 2016, pp.11111)
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86
- Comprehensive assessment of variation at the transforming growth factor β type 1 receptor locus and colorectal cancer predisposition
- Carvajal-Carmona, Luis G.; Churchman, Mike; Bonilla, Carolina; Walther, Axel; Lefè vre, Jeremie H.; Kerr, David; Dunlop, Malcolm; Houlston, Richard; Bodmer, Walter F.; Tomlinson, Ian; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom; ; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom; ; Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DZ, United Kingdom; ; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom; ; Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DZ, United Kingdom; ; Department of Clinical Pharmacology, University of Oxford, Oxford OX3 7DQ, United Kingdom; ; Colon Cancer Genetics Group, Medical Research Council, Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, United Kingdom; and; Section of Cancer Genetics, Institute of Cancer Research; (Proceedings of the National Academy of Sciences of the United States of America, v.107, 2010, pp.7858-7862)
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87
- Purine Metabolism Modulates Leukemia Stem Cell Maintenance in MLL-Rearranged Acute Leukemia
- Shi, Xiangguo; Li, Minhua; Tan, Lin; Liu, Zian; Zhu, Yudan; Jonathan, Tiessen; Zhou, Jing; Feng, Mengdie; Kageyama, Yuki; Samee, Hassan; Andreozzi, Kristen; Lorenzi, Philip; Takahashi, Koichi; Agathocleous, Michalis; Nakada, Daisuke; 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; 2Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX; 3Department of Integrative Physiology, Baylor College of Medicine, Houston, TX; 4Department of Molecular & Human Genetics, Baylor College of Medicine, Houston; 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; 2Department of Bioinformatics and Co; (Blood, v.142, 2023, pp.582-582)
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88
- Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes
- Moulton, Matthew J.; Barish, Scott; Ralhan, Isha; Chang, Jinlan; Goodman, Lindsey D.; Harland, Jake G.; Marcogliese, Paul C.; Johansson, Jan O.; Ioannou, Maria S.; Bellen, Hugo J.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; ; Department of Physiology, University of Alberta, Edmonton, AB T6G 2R3, Canada; ; Department of Physiology, University of Alberta, Edmonton, AB T6G 2R3, Canada; ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; ; Artery Therapeutics, Inc., San Ramon, CA 94583; ; Department of Physiology, University of Alberta, Edmonton, AB T6G 2R3, Canada; ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; (Proceedings of the National Academy of Sciences of the United States of America, v.118, 2021, pp.e2112095118-e2112095118)
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89
- Mutations in <i>POMGNT1</i> cause non-syndromic retinitis pigmentosa
- Xu, Mingchu; Yamada, Takeyuki; Sun, Zixi; Eblimit, Aiden; Lopez, Irma; Wang, Feng; Manya, Hiroshi; Xu, Shan; Zhao, Li; Li, Yumei; Kimchi, Adva; Sharon, Dror; Sui, Ruifang; Endo, Tamao; Koenekoop, Robert K.; Chen, Rui; Department of Molecular and Human Genetics,; Molecular Glycobiology, Research Team for Mechanism of Aging, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo 173-0015, Japan,; Department of Ophthalmology, Peking Union Medical College, Beijing 100730, China,; Department of Molecular and Human Genetics,; McGill Ocular Genetics Laboratory, McGill University Health Centre, Montreal, Quebec H3H 1P3, Canada and; Department of Molecular and Human Genetics,; Molecular Glycobiology, Research Team for Mechanism of Aging, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo 173-0015, Japan,; Department of Molecular and Human Genetics,; Department of Molecular and Human Genetics,; Department of Molecular and Human Genetics,; Departments of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Departments of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Department of Ophthalmolo; (Human molecular genetics, v.25, 2016, pp.1479-1488)
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90
- 2-Oxoglutarate analogue inhibitors of hif prolyl hydroxylase
- Mole, David R; Schlemminger, Imre; McNeill, Luke A; Hewitson, Kirsty S; Pugh, Christopher W; Ratcliffe, Peter J; Schofield, Christopher J; ; (Bioorganic & medicinal chemistry letters, v.13, 2003, pp.2677-2680)
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