Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L Cameron, Philippe Suarez, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D Briggs, Claire Hartley, Daniel H Cohn, H Rosemarie Davidson, Christine Hal, Shiro Ikegawa, Pierre-Simon Jouk, Rainer Koenig, Andre Megarbane, Gen Nishimura, Ralph S Lachman, Geert Mortier Show all
American Journal of Human Genetics | CELL PRESS | Published : 2011
Awarded by Swiss National Research Foundation
Awarded by National Institutes of Health
Awarded by National Health and Medical Research Council of Australia
This work was supported by the Howard Hughes Medical Institute, by the Swiss National Research Foundation, grant 310030_132940 to L.B., by the National Institutes of Health grant HD22657 to D.H.C., and by the National Health and Medical Research Council of Australia, Project grant 607398 to J.F.B. and the Victorian Government's Operational Infrastructure Support Program. A.S.F. is supported by the Leenaards Foundation (Lausanne, Switzerland) and by the Faculty of Biology and Medicine of the Lausanne University (Fonds de Recherche en Pediatrie). We thank the staff of the Harvard Medical School Biopolymers Facility for assistance in exome sequencing. We are grateful to S. Miyagawa, Department of Pediatrics, Kure Medical Center, Japan, for collaboration in sample collection.