BEST1

Summary

Gene Symbol: BEST1
Description: bestrophin 1
Alias: ARB, BEST, BMD, RP50, TU15B, VMD2, bestrophin-1, Best disease, Best1V1Delta2, vitelliform macular dystrophy protein 2
Species: human
Products:     BEST1

Top Publications

  1. Davidson A, Millar I, Urquhart J, Burgess Mullan R, Shweikh Y, Parry N, et al. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009;85:581-92 pubmed publisher
    ..Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and ..
  2. Mullins R, Kuehn M, Faidley E, Syed N, Stone E. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci. 2007;48:3372-80 pubmed
    b>Best disease, or vitelliform macular degeneration, is an autosomal dominant form of macular degeneration that is caused by mutations in the gene encoding bestrophin...
  3. Marquardt A, Stohr H, Passmore L, Kramer F, Rivera A, Weber B. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998;7:1517-25 pubmed
    Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium...
  4. Barro Soria R, Spitzner M, Schreiber R, Kunzelmann K. Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia. J Biol Chem. 2009;284:29405-12 pubmed
    ..Here, we demonstrate molecular and functional expression of bestrophin-1 (BEST1) in mouse and human airways, colon, and kidney...
  5. Meunier I, Sénéchal A, Dhaenens C, Arndt C, Puech B, Defoort Dhellemmes S, et al. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology. 2011;118:1130-6 pubmed publisher
    To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile vitelliform macular dystrophy (VMD2) or adult-onset vitelliform macular dystrophy (AVMD), ..
  6. Yardley J, Leroy B, Hart Holden N, Lafaut B, Loeys B, Messiaen L, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004;45:3683-9 pubmed
    ..To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos...
  7. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau K, et al. Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003;278:41114-25 pubmed
    ..These experiments provide the first structural analysis of the bestrophin channel family. ..
  8. Boon C, van den Born L, Visser L, Keunen J, Bergen A, Booij J, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology. 2013;120:809-20 pubmed publisher
    To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB).
  9. Qu Z, Cheng W, Cui Y, Zheng J. Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1. J Biol Chem. 2009;284:16473-81 pubmed publisher
    Mutations in the human bestrophin 1 (hBest1) chloride channel cause Best vitelliform macular dystrophy...
  10. Sharon D, Al Hamdani S, Engelsberg K, Mizrahi Meissonnier L, Obolensky A, Banin E, et al. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene. Am J Ophthalmol. 2014;157:697-709.e1-2 pubmed publisher
    ..To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy; to investigate whether Bestrophin may be expressed in normal human retina...

Detail Information

Publications62

  1. Davidson A, Millar I, Urquhart J, Burgess Mullan R, Shweikh Y, Parry N, et al. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009;85:581-92 pubmed publisher
    ..Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and ..
  2. Mullins R, Kuehn M, Faidley E, Syed N, Stone E. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci. 2007;48:3372-80 pubmed
    b>Best disease, or vitelliform macular degeneration, is an autosomal dominant form of macular degeneration that is caused by mutations in the gene encoding bestrophin...
  3. Marquardt A, Stohr H, Passmore L, Kramer F, Rivera A, Weber B. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998;7:1517-25 pubmed
    Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium...
  4. Barro Soria R, Spitzner M, Schreiber R, Kunzelmann K. Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia. J Biol Chem. 2009;284:29405-12 pubmed
    ..Here, we demonstrate molecular and functional expression of bestrophin-1 (BEST1) in mouse and human airways, colon, and kidney...
  5. Meunier I, Sénéchal A, Dhaenens C, Arndt C, Puech B, Defoort Dhellemmes S, et al. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology. 2011;118:1130-6 pubmed publisher
    To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile vitelliform macular dystrophy (VMD2) or adult-onset vitelliform macular dystrophy (AVMD), ..
  6. Yardley J, Leroy B, Hart Holden N, Lafaut B, Loeys B, Messiaen L, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004;45:3683-9 pubmed
    ..To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos...
  7. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau K, et al. Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003;278:41114-25 pubmed
    ..These experiments provide the first structural analysis of the bestrophin channel family. ..
  8. Boon C, van den Born L, Visser L, Keunen J, Bergen A, Booij J, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology. 2013;120:809-20 pubmed publisher
    To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB).
  9. Qu Z, Cheng W, Cui Y, Zheng J. Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1. J Biol Chem. 2009;284:16473-81 pubmed publisher
    Mutations in the human bestrophin 1 (hBest1) chloride channel cause Best vitelliform macular dystrophy...
  10. Sharon D, Al Hamdani S, Engelsberg K, Mizrahi Meissonnier L, Obolensky A, Banin E, et al. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene. Am J Ophthalmol. 2014;157:697-709.e1-2 pubmed publisher
    ..To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy; to investigate whether Bestrophin may be expressed in normal human retina...
  11. Qu Z, Chien L, Cui Y, Hartzell H. The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration. J Neurosci. 2006;26:5411-9 pubmed
    Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile form of macular degeneration and autosomal dominant vitreoretinochoroidopathy...
  12. Stone E, Nichols B, Streb L, Kimura A, Sheffield V. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet. 1992;1:246-50 pubmed
    Macular degeneration is the most common cause of legal blindness in older patients in developed countries. Best's vitelliform dystrophy is an early-onset, autosomal dominant form of macular degeneration characterized by an egg-yolk-like ..
  13. Kranjc A, Grillo F, Rievaj J, Boccaccio A, Pietrucci F, Menini A, et al. Regulation of bestrophins by Ca2+: a theoretical and experimental study. PLoS ONE. 2009;4:e4672 pubmed publisher
    ..Based on these considerations, we constructed homology models of human bestrophin-1 (Best1) Asp-rich domain using human thrombospondin-1 X-ray structure as a template...
  14. Boon C, Klevering B, den Hollander A, Zonneveld M, Theelen T, Cremers F, et al. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. Arch Ophthalmol. 2007;125:1100-6 pubmed
    ..an ophthalmic examination and their genomic DNA was analyzed for mutations in the vitelliform macular dystrophy 2 (VMD2) gene. Patients who did not have a mutation in the VMD2 gene were screened for mutations in the peripherin/RDS gene...
  15. Marmorstein L, McLaughlin P, Stanton J, Yan L, Crabb J, Marmorstein A. Bestrophin interacts physically and functionally with protein phosphatase 2A. J Biol Chem. 2002;277:30591-7 pubmed
    ..It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterized by a depressed light peak in the ..
  16. Stohr H, Marquardt A, Nanda I, Schmid M, Weber B. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet. 2002;10:281-4 pubmed
    ..The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family...
  17. Qu Z, Hartzell H. Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008;294:C1371-7 pubmed publisher
    Bestrophin-1 (Best1) is a Cl(-) channel that is linked to various retinopathies in both humans and dogs...