How to cite this article: Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. 2010. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet Part A 152A:1169–1177.
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia†
Article first published online: 22 APR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 5, pages 1169–1177, May 2010
How to Cite
Camacho, N., Krakow, D., Johnykutty, S., Katzman, P. J., Pepkowitz, S., Vriens, J., Nilius, B., Boyce, B. F. and Cohn, D. H. (2010), Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am. J. Med. Genet., 152A: 1169–1177. doi: 10.1002/ajmg.a.33392
- Issue published online: 22 APR 2010
- Article first published online: 22 APR 2010
- Manuscript Accepted: 5 FEB 2010
- Manuscript Received: 24 DEC 2009
- NIH. Grant Numbers: HD22657, AR43510
- Belgian Ministry for Science Policy (Interuniversity Attraction Pole). Grant Number: IUAP P6/28
- Research Foundation-Flanders. Grant Numbers: G.0172.03, G.0565.07
- Research Council of the KU Leuven. Grant Numbers: GOA 2004/07, EF/95/010
Additional supporting information may be found in the online version of this article.
|AJMA_33392_sm_SupplFig1.pdf||47K||Fig. 1: Changes in the intracellular Ca2+ concentrations by stimulation of wild-type TRPV4 and both mutants with cell swelling (HTS) and arachidonic acid (AA) (same as in Krakow et al., 2009). Note that stimulation with AA did not result in a significant increase in the intracellular Ca2+ concentration. Histograms refer to changes in [Ca2+]i measured from basal level to the maximal responses. * indicates significant differences when compared with cells expressing wild-type TRPV4 (one-sided Student's t-test, p <0.01).|
|AJMA_33392_sm_SupplFig2.pdf||56K||Fig. 2: Changes in the currents through TRPV4 after stimulation of both mutants with cell 4aPDD, cell swelling (HTS) and arachidonic acid (AA) (same protocol as in Krakow et al., 2009). All modes of stimulation of the two mutants showed increased channel responses as compared to wild type TRPV4. Voltage ramps were used from −150 to +150 mV. Histograms are taken at current values from −/+ 150 mV, n=5). * indicates significant differences when compared with cells expressing wild-type TRPV4 (one-sided Student's t-test, p <0.01).|
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