|
1
|
Johnson AA, Guziewicz KE, Lee CJ, Kalathur
RC, Pulido JS, Marmorstein LY and Marmorstein AD: Bestrophin 1 and
retinal disease. Prog Retin Eye Res. 58:45–69. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Xiao Q, Hartzell HC and Yu K: Bestrophins
and retinopathies. Pflugers Arch. 460:559–569. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Qian CX, Charran D, Strong CR, Steffens
TJ, Jayasundera T and Heckenlively JR: Optical coherence tomography
examination of the retinal pigment epithelium in best vitelliform
macular dystrophy. Ophthalmology. 124:456–463. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Guziewicz KE, Sinha D, Gómez NM, Zorych K,
Dutrow EV, Dhingra A, Mullins RF, Stone EM, Gamm DM,
Boesze-Battaglia K and Aguirre GD: Bestrophinopathy: An
RPE-photoreceptor interface disease. Prog Retin Eye Res. 58:70–88.
2017. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Arora R, Khan K, Kasilian ML, Strauss RW,
Holder GE, Robson AG, Thompson DA, Moore AT and Michaelides M:
Unilateral BEST1-associated retinopathy. Am J Ophthalmol.
169:24–32. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Subash M, Rotsos T, Wright GA, Devery S,
Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT and
Michaelides M: Unilateral vitelliform maculopathy: A comprehensive
phenotype study with molecular screening of BEST1 and PRPH2. Br J
Ophthalmol. 96:719–722. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Liu J, Xuan Y, Zhang Y, Liu W and Xu G:
Bilateral macular holes and a new onset vitelliform lesion in Best
disease. Ophthalmic Genet. 38:79–82. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Elkhoyaali A, Chatoui S, Bercheq N,
Elouatassi N, Zerrouk R, Elasri F, Reda K and Oubaaz A: Choroidal
neovascularization complicating Best's vitelliform macular
dystrophy in a child. J Fr Ophtalmol. 39:69–73. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Peiretti E, Caminiti G, Forma G, Carboni
G, Dhaenens CM, Querques L, Souied E and Querques G: A Novel p.
Asp304Gly Mutation In Best1 gene associated with atypical best
vitelliform macular dystrophy phenotype and high intrafamilial
variability. Retina. 36:1733–1740. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Chacon-Camacho OF, Camarillo-Blancarte L
and Zenteno JC: OCT findings in young asymptomatic subjects
carrying familial BEST1 gene mutations. Ophthalmic Genet. 32:24–30.
2011. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Stanca HT and Nicolaescu M: Adult onset
foveomacular vitelliform dystrophy. Oftalmologia. 55:82–86.
2011.PubMed/NCBI
|
|
12
|
Brecher R and Bird AC: Adult vitelliform
macular dystrophy. Eye (Lond). 4:210–215. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Liu J, Zhang Y, Xuan Y, Liu W and Wang M:
Novel BEST1 Mutations and special clinical features of best
vitelliform macular dystrophy. Ophthalmic Res. 56:178–185. 2016.
View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Lin Y, Li T, Gao H, Lian Y, Chen C, Zhu Y,
Li Y, Liu B, Zhou W, Jiang H, et al: Bestrophin 1 gene analysis and
associated clinical findings in a Chinese patient with Best
vitelliform macular dystrophy. Mol Med Rep. 16:4751–4755.
2017.PubMed/NCBI
|
|
15
|
Krämer F, White K, Pauleikhoff D, Gehrig
A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz
B, et al: Mutations in the VMD2 gene are associated with
juvenile-onset vitelliform macular dystrophy (Best disease) and
adult vitelliform macular dystrophy but not age-related macular
degeneration. Eur J Hum Genet. 8:286–292. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Glavač D, Jarc-Vidmar M, Vrabec K,
Ravnik-Glavač M, Fakin A and Hawlina M: Clinical and genetic
heterogeneity in Slovenian patients with BEST disease. Acta
Ophthalmol. 94:e786–e794. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Matson ME, Ly SV and Monarrez JL: Novel
Mutation in BEST1 Associated with Atypical Best Vitelliform
Dystrophy. Optom Vis Sci. 92:e180–e189. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Pasquay C, Wang LF, Lorenz B and Preising
MN: Bestrophin 1-phenotypes and functional aspects in
bestrophinopathies. Ophthalmic Genet. 36:193–212. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Seddon JM, Afshari MA, Sharma S, Bernstein
PS, Chong S, Hutchinson A, Petrukhin K and 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.
108:2060–2067. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Marmorstein AD, Kinnick TR, Stanton JB,
Johnson AA, Lynch RM and Marmorstein LY: Bestrophin-1 influences
transepithelial electrical properties and Ca2+ signaling in human
retinal pigment epithelium. Mol Vis. 21:347–359. 2015.PubMed/NCBI
|
|
21
|
Tan X, Zhu Y, Chen C, Chen X, Qin Y, Qu B,
Luo L, Lin H, Wu M, Chen W and Liu Y: Sprouty2 Suppresses
Epithelial-Mesenchymal transition of human lens epithelial cells
through Blockade of Smad2 and ERK1/2 pathways. PLoS One.
11:e01592752016. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Zhang Y, Morgan R, Chen C, Cai Y, Clark E,
Khan WN, Shin SU, Cho HM, Al Bayati A, Pimentel A and Rosenblatt
JD: Mammary-tumor-educated B cells acquire LAP/TGF-β and PD-L1
expression and suppress anti-tumor immune responses. Int Immunol.
28:423–433. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Qin Y, Zhu Y, Luo F, Chen C, Chen X and Wu
M: Killing two birds with one stone: Dual blockade of integrin and
FGF signaling through targeting syndecan-4 in postoperative
capsular opacification. Cell Death Dis. 8:e29202017. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Tan X, Chen C, Zhu Y, Deng J, Qiu X, Huang
S, Shang F, Cheng B and Liu Y: Proteotoxic stress desensitizes
TGF-beta signaling through receptor downregulation in retinal
pigment epithelial cells. Curr Mol Med. Jun 19–2017.(Epub ahead of
print). View Article : Google Scholar :
|
|
25
|
Tan X, Zhan J, Zhu Y, Cao J, Wang L, Liu
S, Wang Y, Liu Z, Qin Y, Wu M, et al: Improvement of uveal and
capsular biocompatibility of hydrophobic acrylic intraocular lens
by surface grafting with 2-Methacryloyloxyethyl
phosphorylcholine-methacrylic acid copolymer. Sci Rep. 7:404622017.
View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Aldehni F, Spitzner M, Martins JR,
Barro-Soria R, Schreiber R and Kunzelmann K: Bestrophin 1 promotes
epithelial-to-mesenchymal transition of renal collecting duct
cells. J Am Soc Nephrol. 20:1556–1564. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Oh SJ and Lee CJ: Distribution and
function of the bestrophin-1 (Best1) Channel in the Brain. Exp
Neurobiol. 26:113–121. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Xi L, Liu Y, Zhao F, Chen C and Cheng B:
Analysis of glistenings in hydrophobic acrylic intraocular lenses
on visual performance. Int J Ophthalmol. 7:446–451. 2014.PubMed/NCBI
|
|
29
|
Lin Y, Gao H, Ai S, Eswarakumar JVP, Chen
C, Zhu Y, Li T, Liu B, Liu X, Luo L, et al: C278F mutation in FGFR2
gene causes two different types of syndromic craniosynostosis in
two Chinese patients. Mol Med Rep. 16:5333–5337. 2017.PubMed/NCBI
|
|
30
|
Lin Y, Gao H, Ai S, Eswarakumar JV, Zhu Y,
Chen C, Li T, Liu B, Jiang H, Liu Y, et al: FGFR2 mutations and
associated clinical observations in two Chinese patients with
Crouzon syndrome. Mol Med Rep. Aug 29–2017.(Epub ahead of print).
View Article : Google Scholar
|
|
31
|
Lin Y, Gao H and Liu Y, Liang X, Liu X,
Wang Z, Zhang W, Chen J, Lin Z, Huang X and Liu Y: Two novel
mutations in the bestrophin-1 gene and associated clinical
observations in patients with best vitelliform macular dystrophy.
Mol Med Rep. 12:2584–2588. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Lin Y, Ai S, Chen C, Liu X, Luo L, Ye S,
Liang X, Zhu Y, Yang H and Liu Y: Ala344Pro mutation in the FGFR2
gene and related clinical findings in one Chinese family with
Crouzon syndrome. Mol Vis. 18:1278–1282. 2012.PubMed/NCBI
|
|
33
|
Lin Y, Liang X, Ai S, Chen C, Liu X, Luo
L, Ye S, Li B, Liu Y and Yang H: FGFR2 molecular analysis and
related clinical findings in one Chinese family with Crouzon
syndrome. Mol Vis. 18:449–454. 2012.PubMed/NCBI
|
|
34
|
Lin Y, Liu X, Yu S, Luo L, Liang X, Wang
Z, Chen C, Zhu Y, Ye S, Yan H and Liu Y: PAX6 analysis of two
sporadic patients from southern China with classic aniridia. Mol
Vis. 18:2190–2194. 2012.PubMed/NCBI
|
|
35
|
Adzhubei IA, Schmidt S, Peshkin L,
Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A
method and server for predicting damaging missense mutations. Nat
Methods. 7:248–249. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Salvo J, Lyubasyuk V, Xu M, Wang H, Wang
F, Nguyen D, Wang K, Luo H, Wen C, Shi C, et al: Next-generation
sequencing and novel variant determination in a cohort of 92
familial exudative vitreoretinopathy Patients. Invest Ophthalmol
Vis Sci. 56:1937–1946. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Nikopoulos K, Gilissen C, Hoischen A, van
Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM,
Ayuso C, et al: Next-generation sequencing of a 40 Mb linkage
interval reveals TSPAN12 mutations in patients with familial
exudative vitreoretinopathy. Am J Hum Genet. 86:240–247. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Kumar P, Henikoff S and Ng PC: Predicting
the effects of coding non-synonymous variants on protein function
using the SIFT algorithm. Nat Protoc. 4:1073–1081. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Avila-Fernandez A, Perez-Carro R, Corton
M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L,
Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, et al:
Whole-exome sequencing reveals ZNF408 as a new gene associated with
autosomal recessive retinitis pigmentosa with vitreal alterations.
Hum Mol Genet. 24:4037–4048. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Jansson Wivestad R, Berland S, Bredrup C,
Austeng D, Andréasson S and Wittström E: Biallelic mutations in the
BEST1 gene: Additional families with autosomal recessive
bestrophinopathy. Ophthalmic Genet. 37:183–193. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Wittström E, Ponjavic V, Bondeson ML and
Andréasson S: Anterior segment abnormalities and angle-closure
glaucoma in a family with a mutation in the BEST1 gene and Best
vitelliform macular dystrophy. Ophthalmic Genet. 32:217–227. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Gass JD: A clinicopathologic study of a
peculiar foveomacular dystrophy. Trans Am Ophthalmol Soc.
72:139–156. 1974.PubMed/NCBI
|
|
43
|
Chowers I, Tiosano L, Audo I, Grunin M and
Boon CJ: Adult-onset foveomacular vitelliform dystrophy: A fresh
perspective. Prog Retin Eye Res. 47:64–85. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Tiosano L, Grunin M, Hagbi-Levi S, Banin
E, Averbukh E and Chowers I: Characterising the phenotype and
progression of sporadic adult-onset foveomacular vitelliform
dystrophy. Br J Ophthalmol. 100:1476–1481. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Rishi E, Rishi P and Mahajan S:
Intravitreal bevacizumab for choroidal neovascular membrane
associated with Best's vitelliform dystrophy. Indian J Ophthalmol.
58:160–162. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Mimoun G, Caillaux V, Querques G,
Rothschild PR, Puche N and Souied EH: Ranibizumab for choroidal
neovascularization associated with adult-onset foveomacular
vitelliform dystrophy: One-year results. Retina. 33:513–521. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
47
|
Lee CS, Jun I, Choi SI, Lee JH, Lee MG,
Lee SC and Kim EK: A Novel BEST1 mutation in autosomal recessive
bestrophinopathy. Invest Ophthalmol Vis Sci. 56:8141–8150. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
48
|
Caldwell GM, Kakuk LE, Griesinger IB,
Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving
PA, Shows TB and Ayyagari R: Bestrophin gene mutations in patients
with Best vitelliform macular dystrophy. Genomics. 58:98–101. 1999.
View Article : Google Scholar : PubMed/NCBI
|
|
49
|
Allikmets R, Seddon JM, Bernstein PS,
Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML,
Wadelius C, et al: Evaluation of the best disease gene in patients
with age-related macular degeneration and other maculopathies. Hum
Genet. 104:449–453. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
50
|
Li T, Lin Y, Gao H, Chen C, Zhu Y, Liu B,
Lian Y, Li Y, Zhou W, Jiang H, et al: Two heterozygous mutations
identified in one Chinese patient with bilateral macular coloboma.
Mol Med Rep. 16:2505–2510. 2017.PubMed/NCBI
|
|
51
|
Carter DA, Smart MJ, Letton WV, Ramsden
CM, Nommiste B, Chen LL, Fynes K, Muthiah MN, Goh P, Lane A, et al:
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial
cells from a family with autosomal dominant
vitreoretinochoroidopathy (ADVIRC). Sci Rep. 6:337922016.
View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Moshfegh Y, Velez G, Li Y, Bassuk AG,
Mahajan VB and Tsang SH: BESTROPHIN1 mutations cause defective
chloride conductance in patient stem cell-derived RPE. Hum Mol
Genet. 25:2672–2680. 2016.PubMed/NCBI
|
|
53
|
Qu Z, Cheng W, Cui Y, Cui Y and Zheng J:
Human disease-causing mutations disrupt an NC-terminal interaction
and channel function of bestrophin 1. J Biol Chem. 284:16473–16481.
2009. View Article : Google Scholar : PubMed/NCBI
|
|
54
|
Hartzell HC, Qu Z, Yu K, Xiao Q and Chien
LT: Molecular physiology of bestrophins: Multifunctional membrane
proteins linked to best disease and other retinopathies. Physiol
Rev. 88:639–672. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
55
|
Tsunenari T, Sun H, Williams J, Cahill H,
Smallwood P, Yau KW and Nathans J: Structure-function analysis of
the bestrophin family of anion channels. J Biol Chem.
278:41114–41125. 2003. View Article : Google Scholar : PubMed/NCBI
|
