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Select item 84779871.

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

Hamzah Aweidah, Manar Salameh, Claudia Yahalom, Anat Blumenfeld, Michal Macarov, Nicole Weisschuh, Susanne Kohl, Eyal Banin, Dror Sharon

Mol Vis. 2021; 27: 588–600. Published online 2021 Sep 22.

PMCID:: PMC8477987

Abstract Article PDF–1.0M

Select item 81821312.

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Nicole Weisschuh, Marc Sturm, Britta Baumann, Isabelle Audo, Carmen Ayuso, Beatrice Bocquet, Kari Branham, Brian P. Brooks, Jaume Catalá-Mora, Roberto Giorda, John R. Heckenlively, Robert B. Hufnagel, Samuel G. Jacobson, Ulrich Kellner, Sofia Kitsiou-Tzeli, Alexandre Matet, Loreto Martorell Sampol, Isabelle Meunier, Günther Rudolph, Dror Sharon, Katarina Stingl, Berthold Streubel, Balázs Varsányi, Bernd Wissinger, Susanne Kohl

Hum Mutat. Author manuscript; available in PMC 2021 Jun 7.

Published in final edited form as: Hum Mutat. 2020 Jan; 41(1): 255–264. Published online 2019 Sep 30. doi: 10.1002/humu.23920

PMCID:: PMC8182131

Abstract Article PDF–995K

Select item 78734923.

Ametropia and Emmetropization in CNGB3 Achromatopsia

Mette Kjøbæk Gundestrup Andersen, Line Kessel

Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 10. Published online 2021 Feb 9. doi: 10.1167/iovs.62.2.10

PMCID:: PMC7873492

Abstract Article PDF–1.0M

Select item 57336514.

Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs

Guo-jie Ye, András M. Komáromy, Caroline Zeiss, Roberto Calcedo, Christine D. Harman, Kristin L. Koehl, Gabriel A. Stewart, Simone Iwabe, Vince A. Chiodo, William W. Hauswirth, Gustavo D. Aguirre, Jeffrey D. Chulay

Hum Gene Ther Clin Dev. 2017 Dec 1; 28(4): 197–207. Published online 2017 Dec 1. doi: 10.1089/humc.2017.125

PMCID:: PMC5733651

Abstract Article PDF–757K

Select item 55370505.

REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA

Christopher S. Langlo, Laura R. Erker, Maria Parker, Emily J. Patterson, Brian P. Higgins, Phyllis Summerfelt, Moataz M. Razeen, Frederick T. Collison, Gerald A. Fishman, Christine N. Kay, Jing Zhang, Richard G. Weleber, Paul Yang, Mark E. Pennesi, Byron L. Lam, Jeffrey D. Chulay, Alfredo Dubra, William W. Hauswirth, David J. Wilson, Joseph Carroll

Retina. 2017 Oct; 37(10): 1956–1966. Published online 2017 Oct 6. doi: 10.1097/IAE.0000000000001434

PMCID:: PMC5537050

Abstract Article PDF–1005K

Select item 49781516.

Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia

Christopher S. Langlo, Emily J. Patterson, Brian P. Higgins, Phyllis Summerfelt, Moataz M. Razeen, Laura R. Erker, Maria Parker, Frederick T. Collison, Gerald A. Fishman, Christine N. Kay, Jing Zhang, Richard G. Weleber, Paul Yang, David J. Wilson, Mark E. Pennesi, Byron L. Lam, John Chiang, Jeffrey D. Chulay, Alfredo Dubra, William W. Hauswirth, Joseph Carroll, for the ACHM-001 Study Group

Invest Ophthalmol Vis Sci. 2016 Aug; 57(10): 3984–3995. Published online 2016 Aug 1. doi: 10.1167/iovs.16-19313

PMCID:: PMC4978151

Abstract Article PDF–1.0M

Select item 42797067.

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

Anna Wawrocka, Susanne Kohl, Britta Baumann, Joanna Walczak-Sztulpa, Katarzyna Wicher, Anna Skorczyk-Werner, Maciej R. Krawczynski

Mol Vis. 2014; 20: 1732–1739. Published online 2014 Dec 23.

PMCID:: PMC4279706

Abstract Article PDF–1.8M

Select item 36924058.

Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells

Chunming Liu, Tshering Sherpa, Michael D. Varnum

Mol Vis. 2013; 19: 1268–1281. Published online 2013 Jun 11. doi: 10.1167/13.9.1268

PMCID:: PMC3692405

Abstract Article PDF–1.2M

Select item 16826259.

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

L Pentao, R A Lewis, D H Ledbetter, P I Patel, J R Lupski

Am J Hum Genet. 1992 Apr; 50(4): 690–699.

PMCID:: PMC1682625

Summary Page Browse PDF–1.7M

Select item 137791110.

Homozygosity mapping of the Achromatopsia locus in the Pingelapese.

J D Winick, M L Blundell, B L Galke, A A Salam, S M Leal, M Karayiorgou

Am J Hum Genet. 1999 Jun; 64(6): 1679–1685. doi: 10.1086/302423

PMCID:: PMC1377911

Summary PDF–286K

Select item 1035402411.

Conformational trajectory of allosteric gating of the human cone photoreceptor cyclic nucleotide-gated channel

Zhengshan Hu, Xiangdong Zheng, Jian Yang

Nat Commun. 2023; 14: 4284. Published online 2023 Jul 18. doi: 10.1038/s41467-023-39971-8

PMCID:: PMC10354024

Abstract Article PDF–3.9M

Select item 1029855412.

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia

Rebeca A. S. Amaral, Fabiana L. Motta, Olivia A. Zin, Mariana M. da Palma, Gabriela D. Rodrigues, Juliana M. F. Sallum

Genes (Basel) 2023 Jun; 14(6): 1296. Published online 2023 Jun 20. doi: 10.3390/genes14061296

PMCID:: PMC10298554

Abstract Article PDF–2.1M

Select item 892901813.

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

Manca Tekavčič Pompe, Nika Vrabič, Marija Volk, Andrej Meglič, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin

Curr Issues Mol Biol. 2021 Sep; 43(2): 941–957. Published online 2021 Aug 16. doi: 10.3390/cimb43020067

PMCID:: PMC8929018

Abstract Article PDF–3.8M

Select item 817457014.

Retinal Morphology of Patients With Achromatopsia During Early Childhood: Implications for Gene Therapy

Paul Yang, Keith V. Michaels, Robert J. Courtney, Yuquan Wen, Daniel A. Greninger, Leah Reznick, Daniel J. Karr, Lorri B. Wilson, Richard G. Weleber, Mark E. Pennesi

JAMA Ophthalmol. Author manuscript; available in PMC 2021 Jun 3.

Published in final edited form as: JAMA Ophthalmol. 2014 Jul; 132(7): 823–831. doi: 10.1001/jamaophthalmol.2014.685

PMCID:: PMC8174570

Abstract Article PDF–747K

Select item 288333815.

Gene therapy rescues cone function in congenital achromatopsia

András M. Komáromy, John J. Alexander, Jessica S. Rowlan, Monique M. Garcia, Vince A. Chiodo, Asli Kaya, Jacqueline C. Tanaka, Gregory M. Acland, William W. Hauswirth, Gustavo D. Aguirre

Hum Mol Genet. 2010 Jul 1; 19(13): 2581–2593. Published online 2010 Apr 8. doi: 10.1093/hmg/ddq136

Correction in:: Hum Mol Genet. 2011 Dec 15; 20(24): 5024.

PMCID:: PMC2883338

Abstract Article PDF–414K

Select item 286224316.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

Maleeha Azam, Rob W.J. Collin, Syed Tahir Abbas Shah, Aftab Ali Shah, Muhammad Imran Khan, Alamdar Hussain, Ahmed Sadeque, Tim M. Strom, Alberta A.H.J. Thiadens, Susanne Roosing, Anneke I. den Hollander, Frans P.M. Cremers, Raheel Qamar

Mol Vis. 2010; 16: 774–781. Published online 2010 Apr 29.

PMCID:: PMC2862243

Abstract Article PDF–5.1M

Select item 173566617.

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

S Johnson, M Michaelides, I Aligianis, J Ainsworth, J Mollon, E Maher, A Moore, D Hunt

J Med Genet. 2004 Feb; 41(2): e20. doi: 10.1136/jmg.2003.011437

PMCID:: PMC1735666

Summary PDF–318K

Select item 277837218.

Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism

Xi-Qin Ding, Cynthia S. Harry, Yumiko Umino, Alexander V. Matveev, Steven J. Fliesler, Robert B. Barlow

Hum Mol Genet. 2009 Dec 15; 18(24): 4770–4780. Published online 2009 Sep 17. doi: 10.1093/hmg/ddp440

PMCID:: PMC2778372

Abstract Article PDF–562K

Select item 311003719.

Clinical utility gene card for: achromatopsia

Susanne Kohl, Christian P Hamel

Eur J Hum Genet. 2011 Jun; 19(6) Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.231

PMCID:: PMC3110037

Article PDF–109K

Select item 368300920.

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Marta Corton, Koji M. Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta

PLoS One. 2013; 8(6): e65574. Published online 2013 Jun 14. doi: 10.1371/journal.pone.0065574

Correction in:: PLoS One. 2016; 11(3): e0153121.

PMCID:: PMC3683009

Abstract Article PDF–389K

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