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Select item 36688031.

Human Photoreceptor Outer Segments Shorten During Light Adaptation

Michael D. Abràmoff, Robert F. Mullins, Kyungmoo Lee, Jeremy M. Hoffmann, Milan Sonka, Douglas B. Critser, Steven F. Stasheff, Edwin M. Stone

Invest Ophthalmol Vis Sci. 2013 May; 54(5): 3721–3728. Published online 2013 May 29. doi: 10.1167/iovs.13-11812

PMCID:: PMC3668803

Abstract Article PDF–634K

Select item 1226392.

The vitelliform macular dystrophy protein defines a new family of chloride channels

Hui Sun, Takashi Tsunenari, King-Wai Yau, Jeremy Nathans

Proc Natl Acad Sci U S A. 2002 Mar 19; 99(6): 4008–4013. doi: 10.1073/pnas.052692999

PMCID:: PMC122639

Abstract Article PDF–285K

Select item 3106893.

A Gene Map of the Best’s Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1

Heidi Stöhr, Andreas Marquardt, Andrea Rivera, Paul R. Cooper, Norma J. Nowak, Thomas B. Shows, Daniela S. Gerhard, Bernhard H.F. Weber

Genome Res. 1998 Jan; 8(1): 48–56. doi: 10.1101/gr.8.1.48

PMCID:: PMC310689

Abstract Article PDF–594K

Select item 10431984.

Fluorescence in Best's vitelliform dystrophy, lipofuscin, and fundus flavimaculatus.

S. A. Miller

Br J Ophthalmol. 1978 Apr; 62(4): 256–260. doi: 10.1136/bjo.62.4.256

PMCID:: PMC1043198

Summary Page Browse PDF–1.5M

Select item 12210085.

cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid.

A E Leonard, B Kelder, E G Bobik, L T Chuang, J M Parker-Barnes, J M Thurmond, P E Kroeger, J J Kopchick, Y S Huang, P Mukerji

Biochem J. 2000 May 1; 347(Pt 3): 719–724.

PMCID:: PMC1221008

Summary PDF–330K

Select item 16854736.

Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.

R E Ferrell, H M Hittner, J H Antoszyk

Am J Hum Genet. 1983 Jan; 35(1): 78–84.

PMCID:: PMC1685473

Summary Page Browse PDF–1.0M

Select item 22921447.

Molecular evolution and functional divergence of the bestrophin protein family

Vladimir M Milenkovic, Thomas Langmann, Rainer Schreiber, Karl Kunzelmann, Bernhard HF Weber

BMC Evol Biol. 2008; 8: 72. Published online 2008 Feb 28. doi: 10.1186/1471-2148-8-72

PMCID:: PMC2292144

Abstract Article PDF–649K

Select item 27116898.

Inducible Expression of Cre Recombinase in the Retinal Pigmented Epithelium

Yun-Zheng Le, Wei Zheng, Peng-Cheng Rao, Lixing Zheng, Robert E. Anderson, Noriko Esumi, Donald J. Zack, Meili Zhu

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Jul 16.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2008 Mar; 49(3): 1248–1253. doi: 10.1167/iovs.07-1105

PMCID:: PMC2711689

Abstract Article PDF–1.8M

Select item 28022919.

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene

Giuseppe Querques, Jennyfer Zerbib, Rossana Santacroce, Maurizio Margaglione, Nathalie Delphin, Jean-Michel Rozet, Josseline Kaplan, Domenico Martinelli, Nicola Delle Noci, Gisèle Soubrane, Eric H. Souied

Mol Vis. 2009; 15: 2960–2972. Published online 2009 Dec 31.

PMCID:: PMC2802291

Abstract Article PDF–1.7M

Select item 283283910.

Hydrodynamic properties of porcine bestrophin-1 in Triton X-100

J. Brett Stanton, Andrew F.X. Goldberg, George Hoppe, Lihua Y. Marmorstein, Alan D. Marmorstein

Biochim Biophys Acta. Author manuscript; available in PMC 2010 Mar 5.

Published in final edited form as: Biochim Biophys Acta. 2006 Feb; 1758(2): 241–247. Published online 2006 Mar 6. doi: 10.1016/j.bbamem.2006.01.024

PMCID:: PMC2832839

Abstract Article PDF–757K

Select item 312316211.

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

Teresa Piñeiro-Gallego, María Álvarez, Inés Pereiro, Severiano Campos, Dror Sharon, Patrik Schatz, Diana Valverde

Mol Vis. 2011; 17: 1607–1617. Published online 2011 Jun 16.

PMCID:: PMC3123162

Abstract Article PDF–8.8M

Select item 316921512.

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations

A C Cohn, C Turnbull, J B Ruddle, R H Guymer, L S Kearns, S Staffieri, H T Daggett, A W Hewitt, D A Mackey

Eye (Lond) 2011 Feb; 25(2): 208–217. Published online 2010 Nov 26. doi: 10.1038/eye.2010.180

PMCID:: PMC3169215

Abstract Article PDF–549K

Select item 996806213.

RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models

Sophia Millington-Ward, Naomi Chadderton, Laura K. Finnegan, Iris J. M. Post, Matthew Carrigan, Rachel Nixon, Marian M. Humphries, Pete Humphries, Paul F. Kenna, Arpad Palfi, G. Jane Farrar

Int J Mol Sci. 2023 Feb; 24(4): 3847. Published online 2023 Feb 14. doi: 10.3390/ijms24043847

PMCID:: PMC9968062

Abstract Article PDF–3.1M

Select item 376992714.

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Gaël Manes, Isabelle Meunier, Almudena Avila-Fernández, Sandro Banfi, Guylène Le Meur, Xavier Zanlonghi, Marta Corton, Francesca Simonelli, Philippe Brabet, Gilles Labesse, Isabelle Audo, Saddek Mohand-Said, Christina Zeitz, José-Alain Sahel, Michel Weber, Hélène Dollfus, Claire-Marie Dhaenens, Delphine Allorge, Elfride De Baere, Robert K. Koenekoop, Susanne Kohl, Frans P.M. Cremers, Joe G. Hollyfield, Audrey Sénéchal, Maxime Hebrard, Béatrice Bocquet, Carmen Ayuso García, Christian P. Hamel

Am J Hum Genet. 2013 Sep 5; 93(3): 571–578. doi: 10.1016/j.ajhg.2013.07.018

PMCID:: PMC3769927

Abstract Article PDF–887K

Select item 442598715.

NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

ADRIAN T. FUNG, SUZANNE YZER, NAOMI GOLDBERG, HAO WANG, MICHAEL NISSEN, ALFONSO GIOVANNINI, JOANNA E. MERRIAM, ELENA N. BUKANOVA, CAROLYN CAI, LAWRENCE A. YANNUZZI, STEPHEN H. TSANG, RANDO ALLIKMETS

Retina. Author manuscript; available in PMC 2015 May 9.

Published in final edited form as: Retina. 2015 Apr; 35(4): 773–782. doi: 10.1097/IAE.0000000000000387

PMCID:: PMC4425987

Abstract Article PDF–646K

Select item 488063816.

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

Doc Ophthalmol. 2016; 132: 233–243. Published online 2016 Apr 12. doi: 10.1007/s10633-016-9540-3

PMCID:: PMC4880638

Abstract Article PDF–4.8M

Select item 564705717.

Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy

Ying Lin, Tao Li, Hongbin Gao, Yu Lian, Chuan Chen, Yi Zhu, Yonghao Li, Bingqian Liu, Wenli Zhou, Hongye Jiang, Xialin Liu, Xiujuan Zhao, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu

Mol Med Rep. 2017 Oct; 16(4): 4751–4755. Published online 2017 Aug 4. doi: 10.3892/mmr.2017.7174

PMCID:: PMC5647057

Abstract Article PDF–1.1M

Select item 721929018.

Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision

Ezequiel M. Salido, Visvanathan Ramamurthy

J Neurosci. 2020 May 13; 40(20): 4059–4072. doi: 10.1523/JNEUROSCI.2994-19.2020

Correction in:: J Neurosci. 2020 Aug 19; 40(34): 6660.

PMCID:: PMC7219290

Abstract Article PDF–18M

Select item 739728619.

Rosa M. Coco-Martin, Hortensia T. Sanchez-Tocino, Carmen Desco, Ricardo Usategui-Martín, Juan J. Tellería

Genes (Basel) 2020 Jul; 11(7): 773. Published online 2020 Jul 9. doi: 10.3390/genes11070773

PMCID:: PMC7397286

Abstract Article PDF–5.9M

Select item 740578520.

Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium

Jingshu Liu, Rachel L. Taylor, Richard A. Baines, Lisa Swanton, Sally Freeman, Barbara Corneo, Achchhe Patel, Alan Marmorstein, Travis Knudsen, Graeme C. Black, Forbes Manson

Invest Ophthalmol Vis Sci. 2020 May; 61(5): 28. Published online 2020 May 18. doi: 10.1167/iovs.61.5.28

PMCID:: PMC7405785

Abstract Article PDF–1.3M

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Basidiomycota sp. BEA-2010 isolate B5 18S ribosomal RNA gene, partial sequence; ...
Basidiomycota sp. BEA-2010 isolate B5 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|306850908|gb|HM589375.1|

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