glutamine repeat variants in human runx2 associated with decreased femoral neck bmd, broadband ultrasound attenuation and target gene transactivation谷氨酰胺在人类runx2重复变异与股骨颈骨密度、降低宽带超声衰减和目标基因transactivation.pdfVIP

Glutamine Repeat Variants in Human RUNX2 Associated with Decreased Femoral Neck BMD, Broadband Ultrasound Attenuation and Target Gene Transactivation 1 1 2 3 3 Nigel A. Morrison *, Alexandre A. Stephens , Motomi Osato , Patsie Polly , Timothy C. Tan , 4 1 5 1 6 Namiko Yamashita , James D. Doecke , Julie Pasco , Nicolette Fozzard , Graeme Jones , 7 8{ 9 10 Stuart H. Ralston , Philip N. Sambrook , Richard L. Prince , Geoff C. Nicholson 1 School of Medical Sciences, Griffith University, Southport, Australia, 2 Institute of Molecular and Cell Biology, Singapore, Singapore, 3 Department of Pathology and Inflammation and Infection Research Centre, School of Medical Sciences, University of New South Wales, Sydney, Australia, 4 Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore, 5 School of Medicine, Deakin University, Geelong, Australia, 6 The Menzies Institute, Hobart, Australia, 7 Centre for Molecular Medicine, The University of Edinburgh, Edinburgh, Scotland, 8 Royal North Shore Hospital, The University of Sydney, Sydney, Australia, 9 Western Australian Institute of Medical Research and the Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Perth, Australia, 10 Rural Clinical School, School of Medicine, The University of Queensland, Toowoomba, Australia Abstract RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial disp