Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD. ADVIRC is caused by distinct mutations inBEST1 that alter pre-mRNA splicing. J Med Genet. 2009 Sep;46(9):620-5. doi:10.1136/jmg.2008.059881.
Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC.Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J HumGenet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004.
Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N,O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015.
Hartzell C, Qu Z, Putzier I, Artinian L, Chien LT, Cui Y. Looking chloridechannels straight in the eye: bestrophins, lipofuscinosis, and retinaldegeneration. Physiology (Bethesda). 2005 Oct;20:292-302. Review.
Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT. Molecular physiology ofbestrophins: multifunctional membrane proteins linked to best disease and otherretinopathies. Physiol Rev. 2008 Apr;88(2):639-72. doi:10.1152/physrev.00022.2007. Review.
Johnson AA, Lee YS, Chadburn AJ, Tammaro P, Manson FD, Marmorstein LY,Marmorstein AD. Disease-causing mutations associated with four bestrophinopathiesexhibit disparate effects on the localization, but not the oligomerization, ofBestrophin-1. Exp Eye Res. 2014 Apr;121:74-85. doi: 10.1016/j.exer.2014.02.006.
Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G,Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B,Schilling H, Schütt F, Holz FG, Weber BH. Mutations in the VMD2 gene areassociated with juvenile-onset vitelliform macular dystrophy (Best disease) andadult vitelliform macular dystrophy but not age-related macular degeneration. EurJ Hum Genet. 2000 Apr;8(4):286-92.
Marmorstein AD, Kinnick TR. Focus on molecules: bestrophin (best-1). Exp EyeRes. 2007 Oct;85(4):423-4.
Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, ForsmanK, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D,Austin CP, Metzker ML, Caskey CT, Wadelius C. Identification of the generesponsible for Best macular dystrophy. Nat Genet. 1998 Jul;19(3):241-7.
Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Morphology and functional characteristics in adult vitelliformmacular dystrophy. Retina. 2004 Dec;24(6):929-39.
Renner AB, Tillack H, Kraus H, Krämer F, Mohr N, Weber BH, Foerster MH,Kellner U. Late onset is common in best macular dystrophy associated with VMD2gene mutations. Ophthalmology. 2005 Apr;112(4):586-92.
Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A,Petrukhin K, Allikmets R. Assessment of mutations in the Best macular dystrophy(VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy,age-related maculopathy, and bull's-eye maculopathy. Ophthalmology. 2001Nov;108(11):2060-7.
Sun H, Tsunenari T, Yau KW, Nathans J. The vitelliform macular dystrophyprotein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002Mar 19;99(6):4008-13.
White K, Marquardt A, Weber BH. VMD2 mutations in vitelliform maculardystrophy (Best disease) and other maculopathies. Hum Mutat. 2000;15(4):301-8.Review.
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, PerveenR, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B,Kestelyn P, Moore AT, Manson FD, Black GC. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.
Yu K, Qu Z, Cui Y, Hartzell HC. Chloride channel activity of bestrophinmutants associated with mild or late-onset macular degeneration. InvestOphthalmol Vis Sci. 2007 Oct;48(10):4694-705.
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?