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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: yang b. 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: yang b. 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.
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: yang b. Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. doi: 10.1073/pnas.0405496101. Epub 2004 Nov 11. Proc Natl Acad Sci U S A. 2004. PMID: 15539463 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: yang b. 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.
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.
Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffield VC. Jones KB, et al. Among authors: yang b. Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2054-9. doi: 10.1073/pnas.0910875107. Epub 2009 Dec 22. Proc Natl Acad Sci U S A. 2010. PMID: 20080592 Free PMC article.
Mice defective in Trpm6 show embryonic mortality and neural tube defects.
Walder RY, Yang B, Stokes JB, Kirby PA, Cao X, Shi P, Searby CC, Husted RF, Sheffield VC. Walder RY, et al. Among authors: yang b. Hum Mol Genet. 2009 Nov 15;18(22):4367-75. doi: 10.1093/hmg/ddp392. Epub 2009 Aug 18. Hum Mol Genet. 2009. PMID: 19692351 Free PMC article.
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