| 1 | BEST1, BEST2, BEST3, BEST4
|
| Expression and Purification of Mammalian Bestrophin Ion Channels
|
| Kittredge A, Ward N, Hopiavuori A, Zhang Y, Yang T.
|
| J Vis Exp Aug 2;(138):57832. doi: 10.3791/57832 2018
|
| 2 | BEST1, LRRC8A, TMEM16A
|
| TMEM16, LRRC8A, bestrophin: chloride channels controlled by Ca(2+) and cell volume
|
| Kunzelmann K.
|
| Trends Biochem Sci. Sep;40(9):535-43. doi: 10.1016/j.tibs.2015.07.005. Epub 2015 Aug 4 2015
|
| 3 | BEST1, GNG4, KCNK2
|
| TREK-1 and Best1 channels mediate fast and slow glutamate release in astrocytes upon GPCR activation.
|
| Woo DH, Han KS, Shim JW, Yoon BE, Kim E, Bae JY, Oh SJ, Hwang EM, Marmorstein AD, Bae YC, Park JY, Lee CJ.
|
| Cell 151(1):25-40. doi: 10.1016/j.cell.2012.09.005.
2012
|
| 4 | BEST1
|
| BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
|
| Vincent A, McAlister C, Vandenhoven C, Héon E.
|
| Eye (Lond). 25(1):113-8. 2011
|
| 5 | BEST1
|
| Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
|
| Davidson AE, Millar ID, Burgess-Mullan R, Maher GJ, Urquhart JE, Brown PD, Black GC, Manson FD.
|
| Invest Ophthalmol Vis Sci. 52(6):3730-6 2011
|
| 6 | BEST1
|
| The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
|
| Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Querques L, Rozet JM, Kaplan J, Souied EH.
|
| Invest Ophthalmol Vis Sci. 52(7):4678-84 2011
|
| 7 | BEST1
|
| Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
|
| Low S, Davidson AE, Holder GE, Hogg CR, Bhattacharya SS, Black GC, Foster PJ, Webster AR.
|
| Mol Vis. 17:2272-82. 2011
|
| 8 | BEST1, VMD2
|
| Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.
|
| Milenkovic VM, Röhrl E, Weber BH, Strauss O.
|
| J Cell Sci 124(Pt 17):2988-96.
2011
|
| 9 | BEST1, SOX9
|
| SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium.
|
| Masuda T, Esumi N.
|
| J Biol Chem 285(35):26933-44. Epub 2010 Jun 8.PMID: 20530484 2010
|
| 10 | BEST1, CRX, OTX2, VMD2
|
| BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.
|
| Esumi N, Kachi S, Hackler L Jr, Masuda T, Yang Z, Campochiaro PA, Zack DJ.
|
| Hum Mol Genet 18(1):128-41. Epub 2008 Oct 10.
2009
|
| 11 | BEST1
|
| Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1.
|
| Qu Z, Cheng W, Cui Y, Cui Y, Zheng J.
|
| J Biol Chem 284(24):16473-81. Epub 2009 Apr 16.
2009
|
| 12 | BEST1, VIRC
|
| ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
|
| Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD.
|
| J Med Genet 46(9):620-5. Epub 2008 Jul 8.PMID: 18611979 2009
|
| 13 | BEST1, RP50
|
| Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
|
| 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.
|
| Am J Hum Genet 85(5):581-92. Epub 2009 Oct 22.PMID: 19853238 2009
|
| 14 | BEST1
|
| Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia.
|
| Barro Soria R, Spitzner M, Schreiber R, Kunzelmann K.
|
| J Biol Chem. 284(43):29405-12. 2009
|
| 15 | ANO1, ANO10, ANO2, ANO3, ANO4, ANO5, ANO6, ANO7, ANO8, ANO9, BEST1
|
| Bestrophin and TMEM16-Ca(2+) activated Cl(-) channels with different functions.
|
| Kunzelmann K, Kongsuphol P, Aldehni F, Tian Y, Ousingsawat J, Warth R, Schreiber R.
|
| Cell Calcium 46(4):233-41. Epub 2009 Sep 26. Review.PMID: 19783045 2009
|
| 16 | BEST1, ARB
|
| Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans.
|
| 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.
|
| Am J Hum Genet 82(1):19-31. 2008
|
| 17 | KCNH1, BEST1
|
| Eag1 and Bestrophin 1 are up-regulated in fast-growing colonic cancer cells.
|
| Spitzner M, Martins JR, Soria RB, Ousingsawat J, Scheidt K, Schreiber R, Kunzelmann K.
|
| J Biol Chem 283(12):7421-8. Epub 2008 Jan 25. 2008
|
| 18 | BEST1
|
| New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
|
| Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, Drouin-Garraud V, Schorderet DF, Munier F, Schmidt D, Le Neindre P, Marsac C, Menasche M, Dufier JL, Fischmeister R, Hartzell C, Abitbol M.
|
| J Med Genet 44(3):e70. Epub 2007 Feb 7. 2007
|
| 19 | BEST1,VMD2
|
| Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.
|
| Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM.
|
| Invest Ophthalmol Vis Sci 48(7):3372-80. 2007
|
| 20 | BEST1, BEST2, BEST3, BEST4
|
| Activation of bestrophin Cl- channels is regulated by C-terminal domains.
|
| Qu ZQ, Yu K, Cui YY, Ying C, Hartzell C.
|
| J Biol Chem 282(24):17460-7. Epub 2007 Apr 17.
2007
|
| 21 | BEST1
|
| The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function.
|
| Yu K, Cui Y, Hartzell HC.
|
| Invest Ophthalmol Vis Sci 47(11):4956-61. 2006
|
| 22 | BEST1
|
| Bestrophin 1 enables Ca2+ activated Cl- conductance in epithelia.
|
| Barro Soria R, Spitzner M, Schreiber R, Kunzelmann K.
|
| J Biol Chem [Epub ahead of print] 2006
|
| 23 | BEST1
|
| Novel de novo mutation in a patient with Best macular dystrophy.
|
| Apushkin MA, Fishman GA, Taylor CM, Stone EM.
|
| Arch Ophthalmol 124(6):887-9. 2006
|
| 24 | BEST1
|
| Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
|
| Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC.
|
| Invest Ophthalmol Vis Sci 45(10):3683-9. 2004
|
| 25 | BEST1
|
| The role of bestrophin in airway epithelial ion transport.
|
| Duta V, Szkotak AJ, Nahirney D, Duszyk M.
|
| FEBS Lett. 577(3):551-4. 2004
|
| 26 | BEST1, BEST2, BEST3, BEST4
|
| Structure-function analysis of the bestrophin family of anion channels.
|
| Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J.
|
| J Biol Chem 278(42):41114-25. Epub 2003 Aug 7.
2003
|
| 27 | BEST1
|
| The vitelliform macular dystrophy protein defines a new family of chloride channels.
|
| Sun H, Tsunenari T, Yau KW, Nathans J.
|
| Proc Natl Acad Sci U S A 99(6):4008-13. 2002
|
| 28 | BEST1
|
| Bestrophin interacts physically and functionally with protein phosphatase 2A.
|
| Marmorstein LY, McLaughlin PJ, Stanton JB, Yan L, Crabb JW, Marmorstein AD.
|
| J Biol Chem. 277(34):30591-7. 2002
|
| 29 | BEST1
|
| 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.
|
| Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R.
|
| Ophthalmology 108(11):2060-7. 2001
|
| 30 | BEST1
|
| A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.
|
| Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M.
|
| Am J Ophthalmol 129(2):260-2. 2000
|
| 31 | BEST1
|
| VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
|
| White K, Marquardt A, Weber BH.
|
| Hum Mutat 15(4):301-8. Review. 2000
|
| 32 | BEST1
|
| Bestrophin, the product of the best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.
|
| Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K.
|
| Proc Natl Acad Sci U S A 97(23):12758-63. 2000
|
| 33 | BEST1
|
| Bestrophin gene mutations in patients with best vitelliform macular dystrophy.
|
| Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R.
|
| Genomics 58(1):98-101. 1999
|
| 34 | BEST1
|
| The mutation spectrum of the bestrophin protein--functional implications.
|
| Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C.
|
| Hum Genet 104(5):383-9. 1999
|
| 35 | BEST1
|
| Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.
|
| Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K.
|
| Hum Genet 104(6):449-53. 1999
|
| 36 | BEST1
|
| A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.
|
| Stohr H, Marquardt A, Rivera A, Cooper PR, Nowak NJ, Shows TB, Gerhard DS, Weber BH.
|
| Genome Res 8(1):48-56. 1998
|
| 37 | CD6, FEN1, BEST1, SYT7
|
| Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes.
|
| Cooper PR, Nowak NJ, Higgins MJ, Church DM, Shows TB.
|
| Genomics 49(3):419-29. 1998
|
| 38 | FTH1, BEST1
|
| Identification of the gene responsible for Best macular dystrophy.
|
| Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C.
|
| Nat Genet 19(3):241-7. 1998
|
| 39 | BEST1, BEST2, BEST4, BEST3
|
| Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
|
| Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BH.
|
| Hum Mol Genet 7(9):1517-25. 1998
|
| 40 | DDB1, BEST1
|
| Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.
|
| Stohr H, Marquardt A, Rivera A, Kellner U, Weber BH.
|
| Eur J Hum Genet 6(4):400-5. 1998
|
| 41 | BEST1
|
| A sequence-ready high-resolution physical map of the Best macular dystrophy gene region in 11q12-q13.
|
| Cooper PR, Nowak NJ, Higgins MJ, Simpson SA, Marquardt A, Stoehr H, Weber BH, Gerhard DS, de Jong PJ, Shows TB.
|
| Genomics 41(2):185-92. 1997
|
| 42 | BEST1
|
| Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids.
|
| Graff C, Eriksson A, Forsman K, Sandgren O, Holmgren G, Wadelius C.
|
| Hum Genet 101(3):263-70. 1997
|
| 43 | BEST1
|
| Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.
|
| Hou YC, Richards JE, Bingham EL, Pawar H, Scott K, Segal M, Lunetta KL, Boehnke M, Sieving PA.
|
| Hum Hered 46(4):211-20. 1996
|
| 44 | BEST1, VMD2
|
| Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.
|
| Mansergh FC, Kenna PF, Rudolph G, Meitinger T, Farrar GJ, Kumar-Singh R, Scorer J, Hally AM, Mynett-Johnson L, Humphries MM.
|
| J Med Genet 32(11):855-8. 1995
|
| 45 | ROM1, BEST1
|
| Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.
|
| Nichols BE, Bascom R, Litt M, McInnes R, Sheffield VC, Stone EM.
|
| Am J Hum Genet 54(1):95-103. 1994
|
| 46 | BEST1
|
| Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM : no evidence for locus heterogeneity.
|
| Weber BH, Walker D, Muller B, Mar L.
|
| Genomics 20(2):267-74. 1994
|
| 47 | BEST1
|
| Molecular evidence for non-penetrance in Best's disease.
|
| Weber BH, Walker D, Muller B.
|
| J Med Genet 31(5):388-92. 1994
|
| 48 | D11S480, D11S903, D11S986, BEST1
|
| High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11.
|
| Weber BH, Vogt G, Stohr H, Sander S, Walker D, Jones C.
|
| Am J Hum Genet 55(6):1182-7. 1994
|
| 49 | BEST1
|
| Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci.
|
| Graff C, Forsman K, Larsson C, Nordstrom S, Lind L, Johansson K, Sandgren O, Weissenbach J, Holmgren G, Gustavson KH, et al.
|
| Genomics 24(3):425-34. 1994
|
| 50 | FTH1, BEST1, FGF2, NUDT6
|
| Basic fibroblast growth factor sense (FGF) and antisense (gfg) RNA transcripts are expressed in unfertilized human oocytes and in differentiated adult tissues.
|
| Knee RS, Pitcher SE, Murphy PR.
|
| Biochem Biophys Res Commun 205(1):577-83 1994
|
| 51 | BEST1
|
| The gene for Best's macular dystrophy is located at 11q13 in a Swedih family.
|
| Forsman K, Graff C, Nordstrom S, Johansson K, Westermark E, Lundgren E, Gustavson KH, Wadelius C, Holmgren G.
|
| Clin Genet 42(3):156-9. 1992
|
| 52 | BEST1
|
| Genetic linkage of vitelliform macular degeneration (Best's disease) to C hromosome 11q13.
|
| Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC.
|
| Nat Genet 1(4):246-50. 1992
|
| 53 | BEST1
|
| Linkage studies of Best's macular dystrophy.
|
| Yoder FE, Cross HE, Chase GA, Fine SL, Freidhoff L, Machan CH, Bias WB.
|
| Clin Genet 34(1):26-30. 1988
|