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4 documents found
1: Title: Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.
Authors: Ma, Dexuan, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 173 (10): 2605-2613, 2017 .
Snippet: Five genes, including OTOGL, PLCB4, SCEL, THSD4, and WWOX, have CNVs in the six patients with sporadic HBs, and three genes, including ABCA6, CWC27, and LAMA2, have CNVs in the five patients with familial HBs.
Affiliation: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China. School of Economics, Shanghai University, Shanghai, China. Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois. Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois. .
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2: Title: Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Authors: Xu, Mingchu, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 100 (4): 592-604, 2017 .
Snippet: By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were found in seven unrelated families that show a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects.
Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Department of Ophthalmology, Columbia University, New York, NY 10032, USA. Institute for Research in Ophthalmology, 1950 Sion, Switzerland. Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France. UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK. Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China. Department of Medical Genetics, The University of British Columbia, Vancouver, BC V6H 3N1, Canada. Department of Ophthalmology, Cairo University, Cairo 11562, Egypt. Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain. Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA. UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK. Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Institut de Biologie de l'ENS (IBENS), CNRS UMR 8197, INSERM U1024, Ecole Normale Supérieure, PSL Research University, 75005 Paris, France. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA. Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France. UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Genetics Institute, University College London, London WC1E 6BT, UK. Genetics Institute, University College London, London WC1E 6BT, UK. Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Genomic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France. Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 Nijmegen, the Netherlands. Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France. Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Institut de Biologie de l'ENS (IBENS), CNRS UMR 8197, INSERM U1024, Ecole Normale Supérieure, PSL Research University, 75005 Paris, France. Department of Biochemistry and Cancer Institute, Robert C. Byrd Health Sciences Center, West Virginia University, Morgantown, WV 26506, USA. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: ruichen@bcm.edu. Department of Ophthalmology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address: rla22@cumc.columbia.edu. Institute for Research in Ophthalmology, 1950 Sion, Switzerland; University of Lausanne and Swiss Federal Institute of Technology, 1015 Lausanne, Switzerland. .
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3: Title: Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort Reveals a New Susceptibility Locus at 5q12.3.
Authors: Wang, Meilin, et.al. .
Journal: Cancer research (Cancer Res), Vol. 76 (11): 3277-84, 2016 .
Snippet: Additional functional analyses suggested that CWC27 played an oncogenic role in bladder cancer by inducing cell proliferation and suppressing apoptosis.
Affiliation: State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China. Department of Genetic Toxicology, The Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China. Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, China. Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Bio-X Institutes, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China. Department of Genetic Toxicology, The Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China. Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, China. Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. Department of Urology, Fudan University Shanghai Cancer Center, Shanghai Medical College, Fudan University, Shanghai, China. Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, China. Department of Urology, Shanghai Changhai Hospital, Second Military Medical University, Shanghai, China. Department of Urology, Zhongshan Hospital, Fudan University, Shanghai, China. Department of Urology, Jiangsu Province Hospital of TCM, Nanjing, China. Department of Urology, The Huai-An First Affiliated Hospital, Nanjing Medical University, Nanjing, China. Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China. Department of Genetic Toxicology, The Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China. Center for Cancer Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina. Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, China. Center for Cancer Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina. Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, Illinois. drzdzhang@njmu.edu.cn shiyongyong@gmail.com jxu@wfubmc.edu. Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Bio-X Institutes, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China. Shandong Provincial Key Laboratory of Metabolic Disease, The Affiliated Hospital of Qingdao University, Qingdao, China. Department of Psychiatry, The First Teaching Hospital of Xinjiang Medical University, Urumqi, China. Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai, China. Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, China. drzdzhang@njmu.edu.cn shiyongyong@gmail.com jxu@wfubmc.edu. State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China. Department of Genetic Toxicology, The Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China. Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, China. drzdzhang@njmu.edu.cn shiyongyong@gmail.com jxu@wfubmc.edu. .
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4: Title: Structure and evolution of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27.
Authors: Ulrich, Alexander, et.al. .
Journal: Acta crystallographica. Section D, Biological crystallography (Acta Crystallogr D Biol Crystallogr), Vol. 70 (Pt 12): 3110-23, 2014 .
Snippet: Cwc27 is a spliceosomal cyclophilin-type peptidyl-prolyl cis-trans isomerase (PPIase).
Affiliation: Laboratory of Structural Biochemistry, Freie Universität Berlin, Takustrasse 6, 14195 Berlin, Germany. .
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