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Select item 69772711.

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

Article PDF–3.8M

Select item 64099132.

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

Article PDF–1.1M

Select item 69475663.

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Imen Habibi, Yosra Falfoul, Margarita G. Todorova, Stefan Wyrsch, Veronika Vaclavik, Maria Helfenstein, Ahmed Turki, Khaled El Matri, Leila El Matri, Daniel F. Schorderet

Genes (Basel) 2019 Dec; 10(12): 953. Published online 2019 Nov 21. doi: 10.3390/genes10120953

Correction in:: Genes (Basel). 2020 May; 11(5): 503.

PMCID:: PMC6947566

Article PDF–2.5M

Select item 60541864.

Comparative gene expression analysis after exposure to ¹²³I-iododeoxyuridine, γ- and α-radiation—potential biomarkers for the discrimination of radiation qualities

Marcus Unverricht-Yeboah, Ulrich Giesen, Ralf Kriehuber

J Radiat Res. 2018 Jul; 59(4): 411–429. Published online 2018 May 25. doi: 10.1093/jrr/rry038

PMCID:: PMC6054186

Article PDF–1.3M

Select item 55672975.

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

Ikhyun Jun, Joon Suk Lee, Ji Hwan Lee, Christopher Seungkyu Lee, Seung-il Choi, Heon Yung Gee, Min Goo Lee, Eung Kweon Kim

Sci Rep. 2017; 7: 9146. Published online 2017 Aug 22. doi: 10.1038/s41598-017-09629-9

PMCID:: PMC5567297

Article PDF–1.9M

Select item 55651046.

Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epithelium

Anna Bennis, Jacoline B. ten Brink, Perry D. Moerland, Vivi M. Heine, Arthur A. Bergen

PLoS One. 2017; 12(8): e0182983. Published online 2017 Aug 21. doi: 10.1371/journal.pone.0182983

PMCID:: PMC5565104

Article PDF–3.8M

Select item 42251447.

Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy

Rong Tian, Guoxing Yang, Jing Wang, Youxin Chen

Mol Vis. 2014; 20: 1594–1604. Published online 2014 Nov 11.

PMCID:: PMC4225144

Article PDF–2.5M

Select item 41456318.

Effects of alternative splicing on function of Bestrophin-1 calcium-activated chloride channels

Yu-Hung Kuo, Iskandar F. Abdullaev, María C. Hyzinski-García, Alexander A. Mongin

Biochem J. Author manuscript; available in PMC 2015 Mar 15.

Published in final edited form as: Biochem J. 2014 Mar 15; 458(3): 575–583. doi: 10.1042/BJ20121546

PMCID:: PMC4145631

Article PDF–467K

Select item 38759009.

In silico analysis of the molecular machinery underlying aqueous humor production: potential implications for glaucoma

Sarah F Janssen, Theo GMF Gorgels, Peter J van der Spek, Nomdo M Jansonius, Arthur AB Bergen

J Clin Bioinforma. 2013; 3: 21. Published online 2013 Oct 28. doi: 10.1186/2043-9113-3-21

PMCID:: PMC3875900

Article PDF–2.9M

Select item 359494310.

A gene expression profile of the developing human retinal pigment epithelium

Zhongyu Zhang, Yan Zhang, Huizhen Xiao, Xiaolei Liang, Dawei Sun, Shaomin Peng

Mol Vis. 2012; 18: 2961–2975. Published online 2012 Dec 15.

PMCID:: PMC3594943

Article PDF–2.4M

Select item 338803511.

Bottlenecks in Development of Retinal Therapeutic Post-Transcriptional Gene Silencing Agents

Jack M. Sullivan, Edwin H. Yau, R. Thomas Taggart, Mark C. Butler, Tiffany A. Kolniak

Vision Res. Author manuscript; available in PMC 2012 Jul 2.

Published in final edited form as: Vision Res. 2008 Feb; 48(3): 453–469. Published online 2007 Oct 31. doi: 10.1016/j.visres.2007.09.011

PMCID:: PMC3388035

Article PDF–4.5M

Select item 308483312.

Interaction of Bestrophin-1 and Ca²⁺ Channel β-Subunits: Identification of New Binding Domains on the Bestrophin-1 C-Terminus

Vladimir M. Milenkovic, Sarka Krejcova, Nadine Reichhart, Andrea Wagner, Olaf Strauß

PLoS One. 2011; 6(4): e19364. Published online 2011 Apr 29. doi: 10.1371/journal.pone.0019364

PMCID:: PMC3084833

Article PDF–682K

Select item 303227513.

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

Emmanuelle Lacassagne, Aurore Dhuez, Florence Rigaudière, Anouk Dansault, Christelle Vêtu, Karine Bigot, Véronique Vieira, Bernard Puech, Sabine Defoort-Dhellemmes, Marc Abitbol

Mol Vis. 2011; 17: 309–322. Published online 2011 Jan 29.

PMCID:: PMC3032275

Article PDF–1016K

Select item 289130914.

Molecular remodeling of ion channels, exchangers and pumps in atrial and ventricular myocytes in ischemic cardiomyopathy

Naomi Gronich, Azad Kumar, Yuwei Zhang, Igor R. Efimov, Nikolai M. Soldatov

Channels (Austin) Author manuscript; available in PMC 2011 Mar 18.

Published in final edited form as: Channels (Austin). 2010 Mar–Apr; 4(2): 101–107. Published online 2010 Mar 18. doi: 10.4161/chan.4.2.10975

PMCID:: PMC2891309

Article PDF–336K

Select item 286654215.

A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression

Judith C. Booij, Jacoline B. ten Brink, Sigrid M. A. Swagemakers, Annemieke J. M. H. Verkerk, Anke H. W. Essing, Peter J. van der Spek, Arthur A. B. Bergen

PLoS One. 2010; 5(5): e9341. Published online 2010 May 7. doi: 10.1371/journal.pone.0009341

PMCID:: PMC2866542

Article PDF–1.3M

Select item 283284016.

Focus on Molecules: Bestrophin (Best-1)

Alan D. Marmorstein, Tyson R. Kinnick

Exp Eye Res. Author manuscript; available in PMC 2010 Mar 5.

Published in final edited form as: Exp Eye Res. 2007 Oct; 85(4): 423–424. Published online 2006 May 23. doi: 10.1016/j.exer.2006.03.021

PMCID:: PMC2832840

Article PDF–572K

Select item 278557317.

Bestrophin-1 Enables Ca²⁺-activated Cl⁻ Conductance in Epithelia

René Barro Soria, Melanie Spitzner, Rainer Schreiber, Karl Kunzelmann

J Biol Chem. 2009 Oct 23; 284(43): 29405–29412. Published online 2006 Sep 26. doi: 10.1074/jbc.M605716200

PMCID:: PMC2785573

Article PDF–2.6M

Select item 267975918.

Functional annotation of the human retinal pigment epithelium transcriptome

Judith C Booij, Simone van Soest, Sigrid MA Swagemakers, Anke HW Essing, Annemieke JMH Verkerk, Peter J van der Spek, Theo GMF Gorgels, Arthur AB Bergen

BMC Genomics. 2009; 10: 164. Published online 2009 Apr 20. doi: 10.1186/1471-2164-10-164

PMCID:: PMC2679759

Article PDF–1.3M

Select item 259802719.

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

D Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin‐Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister, C Hartzell, M Abitbol

J Med Genet. 2007 Mar; 44(3): e70. doi: 10.1136/jmg.2006.044511

PMCID:: PMC2598027

Article PDF–262K

Select item 204897820.

mRNA/microRNA gene expression profile in microsatellite unstable colorectal cancer

Giovanni Lanza, Manuela Ferracin, Roberta Gafà, Angelo Veronese, Riccardo Spizzo, Flavia Pichiorri, Chang-gong Liu, George A Calin, Carlo M Croce, Massimo Negrini

Mol Cancer. 2007; 6: 54. Published online 2007 Aug 23. doi: 10.1186/1476-4598-6-54