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Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: wolfrum u. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029
SANS (USH1G) expression in developing and mature mammalian retina.
Overlack N, Maerker T, Latz M, Nagel-Wolfrum K, Wolfrum U. Overlack N, et al. Among authors: wolfrum u. Vision Res. 2008 Feb;48(3):400-12. doi: 10.1016/j.visres.2007.08.021. Epub 2007 Oct 17. Vision Res. 2008. PMID: 17923142 Free article.
A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa.
Paquet-Durand F, Beck S, Michalakis S, Goldmann T, Huber G, Mühlfriedel R, Trifunović D, Fischer MD, Fahl E, Duetsch G, Becirovic E, Wolfrum U, van Veen T, Biel M, Tanimoto N, Seeliger MW. Paquet-Durand F, et al. Among authors: wolfrum u. Hum Mol Genet. 2011 Mar 1;20(5):941-7. doi: 10.1093/hmg/ddq539. Epub 2010 Dec 10. Hum Mol Genet. 2011. PMID: 21149284
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Chakarova CF, Khanna H, Shah AZ, Patil SB, Sedmak T, Murga-Zamalloa CA, Papaioannou MG, Nagel-Wolfrum K, Lopez I, Munro P, Cheetham M, Koenekoop RK, Rios RM, Matter K, Wolfrum U, Swaroop A, Bhattacharya SS. Chakarova CF, et al. Among authors: wolfrum u. Hum Mol Genet. 2011 Mar 1;20(5):975-87. doi: 10.1093/hmg/ddq543. Epub 2010 Dec 15. Hum Mol Genet. 2011. PMID: 21159800 Free PMC article.
173 results