Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Human Molecular Genetics - Tập 21 Số 12 - Trang 2768-2778 - 2012
Fadil Hannan1, M. Andrew Nesbit1, C. Zhang2, Treena Cranston3, Alan Curley1, Brian Harding1, Carl Fratter3, Nigel Rust4, P. T. Christie1, Jeremy Turner1, Manuel C. Lemos1, Michael R. Bowl1, R Bouillon5, Caroline Brain6, Nicola Bridges7, Christine Burren8, John Connell9, Heike Jung10,11, Eileen Marks12, D. McCredie13, Zulf Mughal14, Christine Rodda15, Sherida E. Tollefsen16, E M Brown17, Jing Yang2, Rajesh V. Thakker1
1Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, OxfordOX3 7LJ, UK,
2Department of Chemistry, Centre for Biotechnology and Drug Design, Georgia State University, Atlanta,GA 30303, USA,
3Oxford Molecular Genetics Laboratory, Churchill Hospital, OxfordOX3 7LJ, UK,
4Sir William Dunn School of Pathology, University of Oxford, OX1 3RE, UK
5Clinic and Laboratory of Experimental Medicine and Endocrinology, Katholieke Universiteit Leuven, Leuven, Belgium,
6Department of Paediatric Endocrinology, Great Ormond Street Hospital, London WC1N 3JH, UK,
7Paediatric Endocrine Clinic, Chelsea and Westminster Hospital, LondonSW10 9NH, UK,
8Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, BristolBS2 8BJ, UK,
9University of Dundee Medical School, Ninewells Hospital and Medical School, DundeeDD1 4HN, UK,
10Clinic for Children and Adolescent Medicine, University-Hospital-Eppendorf, Martinstrasse 52, 20246 Hamburg, Germany,
11Lilly Deutschland GmbH, 61352 Bad Homburg, Germany,
12Department of Clinical Chemistry, Royal Liverpool University Hospital, LiverpoolL7 8XP, UK,
13Department of Nephrology, Royal Children's Hospital, Flemington Road, Parkville 3052, Australia,
14Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, ManchesterM13 9WL, UK,
15Department of Paediatrics, Monash Medical Centre, Monash University, Clayton3168, Australia,
16Department of Pediatrics, Division of Endocrinology, Cardinal Glennon Children's Medical Centre, Saint Louis University School of Medicine, St. Louis, MO 63104, USA and
17Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, EBRC223A, 221 Longwood Avenue, Boston, MA 02115, USA

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Tài liệu tham khảo

Brown, 1993, Nature; Physical Science (London), 366, 575, 10.1038/366575a0

2005, Human Molecular Genetics, 14, 1679, 10.1093/hmg/ddi176

2004, Journal of Biological Chemistry, 279, 14147, 10.1074/jbc.M307422200

Mun, 2004, Journal of Biological Chemistry, 279, 51739, 10.1074/jbc.M406164/200

1997, American Journal of Physiology -- Legacy Content, 273, C1315

Brauner-Osborne, 1999, Journal of Biological Chemistry, 274, 18382, 10.1074/jbc.274.26.18382

2007, Journal of Biological Chemistry, 282, 5310, 10.1074/jbc.M609610200

2007, Journal of Biological Chemistry, 282, 19000, 10.1074/jbc.M701096200

Huang, 2009, 48, 388, 10.1021/bi8014604

Hofer, 2003, Nature reviews. Molecular cell biology, 4, 530, 10.1038/nrm1154

Thakker, 2004, Cell calcium, 35, 275, 10.1016/j.ceca.2003.10.010

Hannan, 2010, Clinical endocrinology, 73, 715, 10.1111/j.1365-2265.2010.03870.x

Quinn, 1996, Journal of Biological Chemistry, 271, 19537, 10.1074/jbc.271.32.19537

Pearce, 1996, Journal of Clinical Investigation, 98, 1860, 10.1172/JCI118987

Hendy, 2000, Human mutation, 16, 281, 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A

Pidasheva, 2004, Human mutation, 24, 107, 10.1002/humu.20067

Felderbauer, 2003, BMC gastroenterology [electronic resource], 3, 34, 10.1186/1471-230X-3-34

2005, Journal of Biological Chemistry, 280, 37917, 10.1074/jbc.M506263200

Fan, 1997, Endocrinology, 138, 1916, 10.1210/en.138.5.1916

Kunishima, 2000, Nature; Physical Science (London), 407, 971, 10.1038/35039564

Simonds, 2002, Medicine, 81, 1, 10.1097/00005792-200201000-00001

2007, Journal of Clinical Endocrinology &amp; Metabolism, 92, 4373, 10.1210/jc.2007-0322

2011, Clinical endocrinology, 75, 50, 10.1111/j.1365-2265.2011.04059.x

Heath, 1993, American journal of human genetics, 53, 193

Hannan, 2010, European journal of human genetics : EJHG, 18, 442, 10.1038/ejhg.2009.161

2010, Journal of Clinical Endocrinology &amp; Metabolism, 95, 1947, 10.1210/jc.2009-2152

Pearce, 1995, Journal of Clinical Investigation, 96, 2683, 10.1172/JCI118335

2004, Journal of Biological Chemistry, 279, 22624, 10.1074/jbc.M401797200

2004, PNAS, 101, 13566, 10.1073/pnas.0405516101

2007, Bioinformatics, 23, 2947, 10.1093/bioinformatics/btm404

Marti-Renom, 2000, Annual review of biophysics and biomolecular structure, 29, 291, 10.1146/annurev.biophys.29.1.291

2002, PNAS, 99, 2660, 10.1073/pnas.052708599