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Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.
Seo S, Mullins RF, Dumitrescu AV, Bhattarai S, Gratie D, Wang K, Stone EM, Sheffield V, Drack AV. Seo S, et al. Invest Ophthalmol Vis Sci. 2013 Sep 11;54(9):6118-32. doi: 10.1167/iovs.13-11673. Invest Ophthalmol Vis Sci. 2013. PMID: 23900607 Free PMC article.
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Fath MA, et al. Among authors: sheffield vc. Hum Mol Genet. 2005 May 1;14(9):1109-18. doi: 10.1093/hmg/ddi123. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772095
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Davis RE, Swiderski RE, Rahmouni K, Nishimura DY, Mullins RF, Agassandian K, Philp AR, Searby CC, Andrews MP, Thompson S, Berry CJ, Thedens DR, Yang B, Weiss RM, Cassell MD, Stone EM, Sheffield VC. Davis RE, et al. Among authors: sheffield vc. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19422-7. doi: 10.1073/pnas.0708571104. Epub 2007 Nov 21. Proc Natl Acad Sci U S A. 2007. PMID: 18032602 Free PMC article.
Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.
Beyer AM, Guo DF, Sheffield VC, Rahmouni K. Beyer AM, et al. Among authors: sheffield vc. Am J Physiol Heart Circ Physiol. 2010 Dec;299(6):H1902-7. doi: 10.1152/ajpheart.00336.2010. Epub 2010 Sep 17. Am J Physiol Heart Circ Physiol. 2010. PMID: 20852044 Free PMC article.
Inactivation of Bardet-Biedl syndrome genes causes kidney defects.
Guo DF, Beyer AM, Yang B, Nishimura DY, Sheffield VC, Rahmouni K. Guo DF, et al. Among authors: sheffield vc. Am J Physiol Renal Physiol. 2011 Feb;300(2):F574-80. doi: 10.1152/ajprenal.00150.2010. Epub 2010 Nov 24. Am J Physiol Renal Physiol. 2011. PMID: 21106857 Free PMC article.
360 results