Author:
Dai Jin,Cho Tae-Joon,Unger Sheila,Lausch Ekkehart,Nishimura Gen,Kim Ok-Hwa,Superti-Furga Andrea,Ikegawa Shiro
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Auer-Grumbach, M., Olschewski, A., Papić, L., Kremer, H., McEntagart, M. E., Uhrig, S. et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat. Genet. 42, 160–164 (2010).
2. Deng, H. X., Klein, C. J., Yan, J., Shi, Y., Wu, Y., Fecto, F. et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat. Genet. 42, 165–169 (2010).
3. Landouré, G., Zdebik, A. A., Martinez, T. L., Burnett, B. G., Stanescu, H. C., Inada, H. et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat. Genet. 42, 170–174 (2010).
4. Everaerts, W., Nilius, B. & Owsianik, G. The vallinoid transient receptor potential channel Trpv4: from structure to disease. Prog. Biophys. Mol. Biol. (e-pub ahead of print 14 October 2009; doi:10.1016/j.pbiomolbio.2009.10.002).
5. Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F. et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat. Genet. 40, 999–1003 (2008).
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