Investigating the Function of BEST1 in iPS-RPE Cells Derived from a Family with Autosomal Recessive Bestrophinopathy

被引：0

作者：

Nymark, Soile ^{[1
]}

Nommiste, Britta ^{[2
]}

Vainio, Iina ^{[1
]}

Juuti-Uusitalo, Kati M. ^{[3
]}

da Cruz, Lyndon ^{[2
,4
]}

Webster, Andrew ^{[2
,4
]}

Moore, Anthony T. ^{[2
,4
]}

Coffey, Pete ^{[2
]}

Strauss, Olaf ^{[5
]}

Carr, Amanda-Jayne Francis ^{[2
]}

机构：

[1] Tampere Univ Technol, BioMediTech, Elect & Commun Engn, FIN-33101 Tampere, Finland

[2] UCL, Inst Ophthalmol, London, England

[3] Univ Tampere, BioMediTech, FIN-33101 Tampere, Finland

[4] Moorfields Eye Hosp, London, England

[5] Charite, Expt Ophthalmol, D-13353 Berlin, Germany

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2015年 / 56卷 / 07期

关键词：

D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

1839

引用

页数：3

共 34 条

[1] A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy
Lee, Christopher Seungkyu
Jun, Ikhyun
Choi, Seung-il
Lee, Ji Hwan
Lee, Min Goo
Lee, Sung Chul
Kim, Eung Kweon
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (13) : 8141 - 8150
[2] NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY
Fung, Adrian T.
Yzer, Suzanne
Goldberg, Naomi
Wang, Hao
Nissen, Michael
Giovannini, Alfonso
Merriam, Joanna E.
Bukanova, Elena N.
Cai, Carolyn
Yannuzzi, Lawrence A.
Tsang, Stephen H.
Allikmets, Rando
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2015, 35 (04): : 773 - 782
[3] Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation
Kubota, Daiki
Gocho, Kiyoko
Akeo, Keiichiro
Kikuchi, Sachiko
Sugahara, Michitaka
Matsumoto, Celso Soiti
Shinoda, Kei
Mizota, Atsushi
Yamaki, Kunihiko
Takahashi, Hiroshi
Kameya, Shuhei
DOCUMENTA OPHTHALMOLOGICA, 2016, 132 (03) : 233 - 243
[4] Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation
Daiki Kubota
Kiyoko Gocho
Keiichiro Akeo
Sachiko Kikuchi
Michitaka Sugahara
Celso Soiti Matsumoto
Kei Shinoda
Atsushi Mizota
Kunihiko Yamaki
Hiroshi Takahashi
Shuhei Kameya
Documenta Ophthalmologica, 2016, 132 : 233 - 243
[5] Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings
Yamada, Rika
Takagi, Rina
Iwamoto, Sadahiko
Shimada, Shoichi
Kakehashi, Akihiro
TAIWAN JOURNAL OF OPHTHALMOLOGY, 2021, 11 (01) : 71 - 76
[6] Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy
Jansson, Ragnhild Wivestad
Berland, Siren
Bredrup, Cecilie
Austeng, Dordi
Andreasson, Sten
Wittstrom, Elisabeth
OPHTHALMIC GENETICS, 2016, 37 (02) : 183 - 193
[7] Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
Hemptinne, Coralie
Willermain, Francois
de Jong, Casper
Postolache, Lavinia
Postelmans, Laurence
OPHTHALMIC GENETICS, 2023, 44 (03) : 318 - 320
[8] Phenotype in homozygous and heterozygous carriers of BEST1 mutations in autosomal recessive Bestrophinopathy
El Matri, K.
Falfoul, Y.
Habibi, I.
Turki, A.
Chebil, A.
Schorderet, D.
El Matri, L.
ACTA OPHTHALMOLOGICA, 2018, 96 : 35 - 35
[9] Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
Hufendiek, Karsten
Hufendiek, Katerina
Jaegle, Herbert
Stoehr, Heidi
Book, Marius
Spital, Georg
Rustambayova, Guenay
Framme, Carsten
Weber, Bernhard H. F.
Renner, Agnes B.
Kellner, Ulrich
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (24) : 1 - 18
[10] Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient
Soto-Sierra, Marina
Morillo-Sanchez, Maria Jose
Martin-Sanchez, Marta
Ramos-Jimenez, Manuel
Lopez-Dominguez, Mireia
Ponte-Zuniga, Beatriz
Antinolo, Guillermo
Rodriguez-de-la-Rua, Enrique
EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2022, 32 (05) : NP77 - NP81

← 1 2 3 4 →