Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation

• Main Authors: Morrison N.A., Stephens A.A., Osato M., Polly P., Tan T.C., Yamashita N., Doecke J.D., Pasco J., Fozzard N., Jones G., Ralston S.H., Sambrook P.N., Prince R.L., Nicholson G.C.
• Other Authors: CANCER SCIENCE INSTITUTE OF SINGAPORE
• Format: Article
• Published: Public Library of Science 2020
• Subjects: polyglutamine; transcription factor RUNX2; vitamin D receptor; adult; aged; allele; article; bone densitometry; bone density; female; femur neck; gene frequency; gene function; gene mutation; gene targeting; genetic association; genetic variability; human; mutational analysis; mutator gene; Runx2 gene; transactivation; Adult; Aged; Aged, 80 and over; Animals; Bone Density; Cleidocranial Dysplasia; Core Binding Factor Alpha 1 Subunit; Female; Femoral Neck Fractures; Femur Neck; Genetic Predisposition to Disease; Glutamine; HEK293 Cells; Humans; Mice; Monte Carlo Method; Mutation; NIH 3T3 Cells; Receptors, Calcitriol; Repetitive Sequences, Amino Acid; Transcriptional Activation
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/165568

10.1371/journal.pone.0042617