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Items: 1 to 20 of 82

1.
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy
Jie Shi, Lu Tian, Tengyang Sun, Xiao Zhang, Ke Xu, Yue Xie, Xiaoyan Peng, Xin Tang, Zi-Bing Jin, Yang Li
Invest Ophthalmol Vis Sci. 2023 Sep; 64(12): 37. Published online 2023 Sep 25. doi: 10.1167/iovs.64.12.37
PMCID:
PMC10528473
AbstractArticlePDF–6.7M
2.
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
Shangying Yang, Zhen Li, Wanyu Cheng, Meijiao Ma, Rui Qi, Xue Rui, Yinghua Ren, Xunlun Sheng, Weining Rong
Mol Genet Genomic Med. 2023 Jan; 11(1): e2095. Published online 2022 Nov 15. doi: 10.1002/mgg3.2095
PMCID:
PMC9834154
AbstractArticlePDF–10M
3.
Photoreceptor Function and Structure in Retinal Degenerations caused by Biallelic BEST1 Mutations
Artur V. Cideciyan, Samuel G. Jacobson, Alexander Sumaroka, Malgorata Swider, Arun K. Krishnan, Rebecca Sheplock, Alexandra V. Garafalo, Karina E. Guziewicz, Gustavo D. Aguirre, William A. Beltran, Yoshitsugu Matsui, Mineo Kondo, Elise Heon
Vision Res. Author manuscript; available in PMC 2024 Feb 1.
Published in final edited form as: Vision Res. 2022 Nov 28; 203: 108157. Published online 2022 Nov 28. doi: 10.1016/j.visres.2022.108157
PMCID:
PMC9825664
AbstractArticlePDF–1.0M
4.
Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells
Alec Kittredge, Yu Zhang, Tingting Yang
Methods Enzymol. Author manuscript; available in PMC 2022 Dec 30.
Published in final edited form as: Methods Enzymol. 2021; 654: 365–382. Published online 2021 Feb 27. doi: 10.1016/bs.mie.2021.01.004
PMCID:
PMC9801436
AbstractArticlePDF–1.6M
5.
A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy
Obaid Imtiyazul Haque, Anbukayalvizhi Chandrasekaran, Faisal Nabi, Owais Ahmad, João Pedro Marques, Tanweer Ahmad
BMC Ophthalmol. 2022; 22: 493. Published online 2022 Dec 16. doi: 10.1186/s12886-022-02703-5
PMCID:
PMC9756692
AbstractArticlePDF–3.4M
6.
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies
Katarzyna Nowomiejska, Fadi Nasser, Katarina Stingl, Simone Schimpf-Linzenbold, Saskia Biskup, Agnieszka Brzozowska, Robert Rejdak, Susanne Kohl, Eberhart Zrenner
Acta Ophthalmol. Author manuscript; available in PMC 2022 Jul 27.
Published in final edited form as: Acta Ophthalmol. 2022 May; 100(3): e847–e858. Published online 2021 Jul 29. doi: 10.1111/aos.14958
PMCID:
PMC9328113
AbstractArticlePDF–830K
7.
Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation
Arnau Navinés-Ferrer, Sheila Ruiz-Nogales, Rafael Navarro, Esther Pomares
Int J Mol Sci. 2022 Jul; 23(13): 7432. Published online 2022 Jul 4. doi: 10.3390/ijms23137432
PMCID:
PMC9266689
AbstractArticlePDF–3.5M
8.
Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations
Qingqing Zhao, Yang Kong, Alec Kittredge, Yao Li, Yin Shen, Yu Zhang, Stephen H Tsang, Tingting Yang
eLife. 2021; 10: e67622. Published online 2021 Jun 1. doi: 10.7554/eLife.67622
PMCID:
PMC8169119
AbstractArticlePDF–2.8M
9.
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
Tyler A. Pfister, Wadih M. Zein, Catherine A. Cukras, Hatice N. Sen, Ramiro S. Maldonado, Laryssa A. Huryn, Robert B. Hufnagel
Invest Ophthalmol Vis Sci. 2021 May; 62(6): 22. Published online 2021 May 20. doi: 10.1167/iovs.62.6.22
PMCID:
PMC8142704
AbstractArticlePDF–3.2M
10.
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials
Giuseppe Casalino, Kamron N. Khan, Monica Armengol, Genevieve Wright, Nikolas Pontikos, Michalis Georgiou, Andrew R. Webster, Anthony G. Robson, Parampal S. Grewal, Michel Michaelides
Ophthalmology. 2021 May; 128(5): 706–718. doi: 10.1016/j.ophtha.2020.10.006
PMCID:
PMC8062850
AbstractArticlePDF–2.5M
11.
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
Karsten Hufendiek, Katerina Hufendiek, Herbert Jägle, Heidi Stöhr, Marius Book, Georg Spital, Günay Rustambayova, Carsten Framme, Bernhard H. F. Weber, Agnes B. Renner, Ulrich Kellner
Int J Mol Sci. 2020 Dec; 21(24): 9353. Published online 2020 Dec 8. doi: 10.3390/ijms21249353
PMCID:
PMC7763028
AbstractArticlePDF–4.4M
12.
Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy
Ji Hwan Lee, Jin-ok Oh, Christopher Seungkyu Lee
Yonsei Med J. 2020 Sep 1; 61(9): 816–825. Published online 2020 Aug 27. doi: 10.3349/ymj.2020.61.9.816
Correction in:
Yonsei Med J. 2020 Nov 1; 61(11): 989.
PMCID:
PMC7471084
AbstractArticlePDF–2.8M
13.
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Mital Shah, Suzanne Broadgate, Morag Shanks, Penny Clouston, Jing Yu, Robert E. MacLaren, Andrea H. Németh, Stephanie Halford, Susan M. Downes
JAMA Ophthalmol. 2020 May; 138(5): 544–551. Published online 2020 Apr 2. doi: 10.1001/jamaophthalmol.2020.0666
PMCID:
PMC7118667
AbstractArticle
14.
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies
Anna-Lena Nachtigal, Andrea Milenkovic, Caroline Brandl, Heidi L. Schulz, Lisa M. J. Duerr, Gabriele E. Lang, Charlotte Reiff, Philipp Herrmann, Ulrich Kellner, Bernhard H.F. Weber
Int J Mol Sci. 2020 Mar; 21(5): 1597. Published online 2020 Feb 26. doi: 10.3390/ijms21051597
PMCID:
PMC7084480
AbstractArticlePDF–4.8M
15.
Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile
Panpan Ye, Jia Xu, Yueqiu Luo, Zhitao Su, Ke Yao
BMC Med Genet. 2020; 21: 16. Published online 2020 Jan 22. doi: 10.1186/s12881-020-0951-3
PMCID:
PMC6977271
AbstractArticlePDF–3.8M
16.
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
Changyi Ji, Yao Li, Alec Kittredge, Austin Hopiavuori, Nancy Ward, Peng Yao, Yohta Fukuda, Yu Zhang, Stephen H. Tsang, Tingting Yang
Sci Rep. 2019; 9: 19026. Published online 2019 Dec 13. doi: 10.1038/s41598-019-54892-7
PMCID:
PMC6910965
AbstractArticlePDF–3.9M
17.
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology
Vladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, Paolo Enrico Maltese, Giulia Delledonne, Marta Oldani, Giovanni Staurenghi, Benedetto Falsini, Angelo Maria Minnella, Lucia Ziccardi, Adriano Magli, Leonardo Colombo, Fabiana D’Esposito, Jan Miertus, Francesco Viola, Marcella Attanasio, Emilia Maggio, Matteo Bertelli
J Transl Med. 2019; 17: 330. Published online 2019 Oct 1. doi: 10.1186/s12967-019-2080-3
PMCID:
PMC6771118
AbstractArticlePDF–1.9M
18.
Dual Ca2+-dependent gates in human Bestrophin1 underlie disease-causing mechanisms of gain-of-function mutations
Changyi Ji, Alec Kittredge, Austin Hopiavuori, Nancy Ward, Shoudeng Chen, Yohta Fukuda, Yu Zhang, Tingting Yang
Commun Biol. 2019; 2: 240. Published online 2019 Jun 24. doi: 10.1038/s42003-019-0433-3
PMCID:
PMC6591409
AbstractArticlePDF–2.4M
19.
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients
Lama Jaffal, Wissam H. Joumaa, Alexandre Assi, Charles Helou, Christel Condroyer, Maya El Dor, Georges Cherfan, Christina Zeitz, Isabelle Audo, Kazem Zibara, Said El Shamieh
Genes (Basel) 2019 Feb; 10(2): 151. Published online 2019 Feb 18. doi: 10.3390/genes10020151
PMCID:
PMC6409913
AbstractArticlePDF–1.1M
20.
ATP activates bestrophin ion channels through direct interaction
Yu Zhang, Alec Kittredge, Nancy Ward, Changyi Ji, Shoudeng Chen, Tingting Yang
Nat Commun. 2018; 9: 3126. Published online 2018 Aug 7. doi: 10.1038/s41467-018-05616-4
PMCID:
PMC6081419
AbstractArticlePDF–2.6M

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