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Select item 103540241.

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 102985542.

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 100729063.

Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity

Martin Golkowski, Andrea Lius, Tanmay Sapre, Ho-Tak Lau, Taylor Moreno, Dustin J. Maly, Shao-En Ong

Mol Cell. Author manuscript; available in PMC 2023 Apr 4.

Published in final edited form as: Mol Cell. 2023 Mar 2; 83(5): 803–818.e8. Published online 2023 Feb 2. doi: 10.1016/j.molcel.2023.01.015

PMCID:: PMC10072906

Abstract Article PDF–4.2M

Select item 89290184.

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 84779875.

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 83641816.

Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry

Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang

Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118

PMCID:: PMC8364181

Abstract Article PDF–3.0M

Select item 81821317.

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 81745708.

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 79622529.

The C. elegans homolog of human panic-disorder risk gene TMEM132D orchestrates neuronal morphogenesis through the WAVE-regulatory complex

Xin Wang, Wei Jiang, Shuo Luo, Xiaoyu Yang, Changnan Wang, Bingying Wang, Yongjun Dang, Yin Shen, Dengke K. Ma

Mol Brain. 2021; 14: 54. Published online 2021 Mar 16. doi: 10.1186/s13041-021-00767-w

PMCID:: PMC7962252

Abstract Article PDF–6.5M

Select item 787349210.

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 692513411.

RNF208, an estrogen-inducible E3 ligase, targets soluble Vimentin to suppress metastasis in triple-negative breast cancers

Kyoungwha Pang, Jinah Park, Sung Gwe Ahn, Jihee Lee, Yuna Park, Akira Ooshima, Seiya Mizuno, Satoshi Yamashita, Kyung-Soon Park, So-Young Lee, Joon Jeong, Toshikazu Ushijima, Kyung-Min Yang, Seong-Jin Kim

Nat Commun. 2019; 10: 5805. Published online 2019 Dec 20. doi: 10.1038/s41467-019-13852-5

PMCID:: PMC6925134

Abstract Article PDF–4.5M

Select item 573365112.

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 553705013.

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 497815114.

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 465772715.

CNG channel subunit glycosylation regulates MMP-dependent changes in channel gating

Starla E. Meighan, Peter C. Meighan, Elizabeth D. Rich, R. Lane Brown, Michael D. Varnum

Biochemistry. Author manuscript; available in PMC 2015 Nov 24.

Published in final edited form as: Biochemistry. 2013 Nov 19; 52(46): 8352–8362. Published online 2013 Nov 11. doi: 10.1021/bi400824x

PMCID:: PMC4657727

Abstract Article PDF–949K

Select item 436785716.

New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing

Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg

Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6

PMCID:: PMC4367857

Abstract Article PDF–3.1M

Select item 427970617.

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 369240518.

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 368300919.

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