검색어 : 통합검색[Hughes Edwin]
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371
- N-glycoproteomics of brain synapses and synaptic vesicles
- Bradberry, Mazdak M.; Peters-Clarke, Trenton M.; Shishkova, Evgenia; Chapman, Edwin R.; Coon, Joshua J.; Department of Chemistry, University of Wisconsin-Madison, Madison, WI 53706, USA; Department of Chemistry, University of Wisconsin-Madison, Madison, WI 53706, USA; Department of Chemistry, University of Wisconsin-Madison, Madison, WI 53706, USA; Howard Hughes Medical Institute and Department of Neuroscience, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA; Department of Chemistry, University of Wisconsin-Madison, Madison, WI 53706, USA; (Cell reports, v.42, 2023, pp.112368-112368)
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372
- Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
- Mykytyn, Kirk; Mullins, Robert F.; Andrews, Michael; Chiang, Annie P.; Swiderski, Ruth E.; Yang, Baoli; Braun, Terry; Casavant, Thomas; Stone, Edwin M.; Sheffield, Val C.; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Department of Pediatrics, Division of Medical Genetics, Departments of Opthalmology, Computer and Electrical Engineering, and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Department of Pediatrics, Division of Medical Genetics, Departments of Opthalmology, Computer and Electrical Engineering, and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Department of Pediatrics, Division of Medical Genetics, Departments of Opthalmology, Computer and Electrical Engineering, and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa Cit; (Proceedings of the National Academy of Sciences of the United States of America, v.101, 2004, pp.8664-8669)
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373
- Comparative Genomics and Gene Expression Analysis Identifies <i>BBS9,</i> a New Bardet-Biedl Syndrome Gene
- Nishimura, Darryl Y.; Swiderski, Ruth E.; Searby, Charles C.; Berg, Erik M.; Ferguson, Amanda L.; Hennekam, Raoul; Merin, Saul; Weleber, Richard G.; Biesecker, Leslie G.; Stone, Edwin M.; Sheffield, Val C.; Department of Pediatrics, University of Iowa, Iowa City; Department of Pediatrics, University of Iowa, Iowa City; Howard Hughes Medical Institute, University of Iowa, Iowa City; Howard Hughes Medical Institute, University of Iowa, Iowa City; Department of Pediatrics, University of Iowa, Iowa City; Institute of Child Health, University College London, London; Department of Ophthalmology, Hadassah Medical Organization, Jerusalem; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; Department of Ophthalmology, University of Iowa, Iowa City; Department of Pediatrics, University of Iowa, Iowa City; (American journal of human genetics, v.77, 2005, pp.1021-1033)
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374
- TUDCA Slows Retinal Degeneration in Two Different Mouse Models of Retinitis Pigmentosa and Prevents Obesity in Bardet-Biedl Syndrome Type 1 Mice
- Drack, Arlene V.; Dumitrescu, Alina V.; Bhattarai, Sajag; Gratie, Daniel; Stone, Edwin M.; Mullins, Robert; Sheffield, Val C.; From the Departments of Ophthalmology and Visual Sciences and 2Pediatrics,; From the Departments of Ophthalmology and Visual Sciences and; From the Departments of Ophthalmology and Visual Sciences and; From the Departments of Ophthalmology and Visual Sciences and; From the Departments of Ophthalmology and Visual Sciences and the 3Interdisciplinary Genetics Program, and the 4Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa.; From the Departments of Ophthalmology and Visual Sciences and; From the Departments of Ophthalmology and Visual Sciences and 2Pediatrics, the 3Interdisciplinary Genetics Program, and the 4Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa.; (Investigative ophthalmology & visual science, v.53, 2012, pp.100)
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375
- Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)
- Nishimura, Darryl Y.; Searby, Charles C.; Carmi, Rivka; Elbedour, Khalil; Maldergem, Lionel Van; Fulton, Anne B.; Lam, Byron L.; Powell, Berkley R.; Swiderski, Ruth E.; Bugge, Kevin E.; Haider, Neena B.; Kwitek-Black, Anne E.; Ying, Lihua; Duhl, David M.; Gorman, Susan W.; Heon, Elise; Iannaccone, Alessandro; Bonneau, Dominique; Biesecker, Leslie G.; Jacobson, Samuel G.; Stone, Edwin M.; Sheffield, Val C.; ; (Human molecular genetics, v.10, 2001, pp.865-874)
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376
- <i>Bbs2</i> -null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
- Nishimura, Darryl Y.; Fath, Melissa; Mullins, Robert F.; Searby, Charles; Andrews, Michael; Davis, Roger; Andorf, Jeaneen L.; Mykytyn, Kirk; Swiderski, Ruth E.; Yang, Baoli; Carmi, Rivka; Stone, Edwin M.; Sheffield, Val C.; Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel; Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel; Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 522; (Proceedings of the National Academy of Sciences of the United States of America, v.101, 2004, pp.16588-16593)
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377
- Polybasic Patches in Both C2 Domains of Synaptotagmin-1 Are Required for Evoked Neurotransmitter Release
- Wu, Zhenyong; Ma, Lu; Courtney, Nicholas A.; Zhu, Jie; Landajuela, Ane; Zhang, Yongli; Chapman, Edwin R.; Karatekin, Erdem; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, Connecticut 06520; Nanobiology Institute, Yale University, West Haven, Connecticut 06516; Howard Hughes Medical Institute and Department of Neuroscience, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53705; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, Connecticut 06520; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, Connecticut 06520; Department of Cell Biology, Yale School of Medicine, New Haven, Connecticut 06520; Howard Hughes Medical Institute and Department of Neuroscience, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53705; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, Connecticut 06520; (The Journal of neuroscience : the official journal of the Society for Neuroscience, v.42, 2022, pp.5816-5829)
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378
- Relation of Response to Treatment with Dorzolamide in X-Linked Retinoschisis to the Mechanism of Functional Loss in Retinoschisin
- Walia, Saloni; Fishman, Gerald A.; Molday, Robert S.; Dyka, Frank M.; Kumar, Nalin M.; Ehlinger, Mary A.; Stone, Edwin M.; ; (American journal of ophthalmology, v.147, 2009, pp.111-115.e1)
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379
- Integrated modeling of clinical and gene expression information for personalized prediction of disease outcomes
- Pittman, Jennifer; Huang, Erich; Dressman, Holly; Horng, Cheng-Fang; Cheng, Skye H.; Tsou, Mei-Hua; Chen, Chii-Ming; Bild, Andrea; Iversen, Edwin S.; Huang, Andrew T.; Nevins, Joseph R.; West, Mike; Institute of Statistics and Decision Sciences, Computational and Applied Genomics Program, Institute for Genome Sciences and Policy, and Howard Hughes Medical Institute, Duke University, Durham, NC 27708; Departments of Molecular Genetics and Microbiology and Medicine, Duke University Medical Center, Durham, NC 27710; and Koo Foundation Sun Yat-Sen Cancer Center, 125 Lih-Der Road, Pei-Tou District, Taipei 112, Taiwan; Institute of Statistics and Decision Sciences, Computational and Applied Genomics Program, Institute for Genome Sciences and Policy, and Howard Hughes Medical Institute, Duke University, Durham, NC 27708; Departments of Molecular Genetics and Microbiology and Medicine, Duke University Medical Center, Durham, NC 27710; and Koo Foundation Sun Yat-Sen Cancer Center, 125 Lih-Der Road, Pei-Tou District, Taipei 112, Taiwan; Institute of Statistics and Decision Sciences, Computational and Applied Genomics Program, Institute for Genome Sciences and Policy, and Howard Hughes Med; (Proceedings of the National Academy of Sciences of the United States of America, v.101, 2004, pp.8431-8436)
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380
- A Structural Role for the Synaptobrevin 2 Transmembrane Domain in Dense-Core Vesicle Fusion Pores
- Chang, Che-Wei; Hui, Enfu; Bai, Jihong; Bruns, Dieter; Chapman, Edwin R.; Jackson, Meyer B.; Department of Neuroscience, University of Wisconsin, Madison, Wisconsin 53705,; Department of Cellular and Molecular Pharmacology, Howard Hughes Medical Institute, University of California, San Francisco, California 94158,; Fred Hutchinson Cancer Research Center, Seattle, Washington 98109,; Institut fü r Physiologie, Universitä t des Saarlandes, 66424 Homburg, Germany, and; Department of Neuroscience, University of Wisconsin, Madison, Wisconsin 53705,; Department of Neuroscience, University of Wisconsin, Madison, Wisconsin 53705,; (The Journal of neuroscience : the official journal of the Society for Neuroscience, v.35, 2015, pp.5772-5780)
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