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Items: 1 to 20 of 21

1.
Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa
Laurence M. Occelli, Lena Zobel, Jonathan Stoddard, Johanna Wagner, Nathaniel Pasmanter, Janice Querubin, Lauren M. Renner, Rene Reynaga, Paige A. Winkler, Kelian Sun, Luis Felipe L.P. Marinho, Catherine R. O’Riordan, Amy Frederick, Andreas Lauer, Stephen H. Tsang, William W. Hauswirth, Trevor J. McGill, Martha Neuringer, Stylianos Michalakis, Simon M. Petersen-Jones
Mol Ther. 2023 Jul 5; 31(7): 2028–2041. Published online 2023 Apr 13. doi: 10.1016/j.ymthe.2023.04.005
PMCID:
PMC10362398
AbstractArticlePDF–5.6M
2.
Engagement of the G3BP2-TRIM25 Interaction by Nucleocapsid Protein Suppresses the Type I Interferon Response in SARS-CoV-2-Infected Cells
Zening Yang, Jing Li, Jiali Li, Huiwen Zheng, Heng Li, Qingrun Lai, Yanli Chen, Li Qin, Yuanyuan Zuo, Lei Guo, Haijing Shi, Longding Liu
Vaccines (Basel) 2022 Dec; 10(12): 2042. Published online 2022 Nov 29. doi: 10.3390/vaccines10122042
PMCID:
PMC9781323
AbstractArticlePDF–22M
3.
Structural mechanisms of assembly, permeation, gating, and pharmacology of native human rod CNG channel
Jing Xue, Yan Han, Weizhong Zeng, Youxing Jiang
Neuron. Author manuscript; available in PMC 2023 Jan 5.
Published in final edited form as: Neuron. 2022 Jan 5; 110(1): 86–95.e5. Published online 2021 Oct 25. doi: 10.1016/j.neuron.2021.10.006
PMCID:
PMC8738139
AbstractArticlePDF–2.5M
4.
Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases
Margarita Mauro-Herrera, John Chiang, Bojana Radojevic, Lea D Bennett
Genes (Basel) 2021 Jul; 12(7): 993. Published online 2021 Jun 29. doi: 10.3390/genes12070993
PMCID:
PMC8303747
AbstractArticlePDF–1.5M
5.
CNGB1‐related rod‐cone dystrophy: A mutation review and update
Marco Nassisi, Vasily M. Smirnov, Cyntia Solis Hernandez, Saddek Mohand‐Saïd, Christel Condroyer, Aline Antonio, Laura Kühlewein, Melanie Kempf, Susanne Kohl, Bernd Wissinger, Fadi Nasser, Sara D. Ragi, Nan‐Kai Wang, Janet R. Sparrow, Vivienne C. Greenstein, Stylianos Michalakis, Omar A. Mahroo, Rola Ba‐Abbad, Michel Michaelides, Andrew R. Webster, Simona Degli Esposti, Brooke Saffren, Jenina Capasso, Alex Levin, William W. Hauswirth, Claire‐Marie Dhaenens, Sabine Defoort‐Dhellemmes, Stephen H. Tsang, Eberhart Zrenner, Jose‐Alain Sahel, Simon M. Petersen‐Jones, Christina Zeitz, Isabelle Audo
Hum Mutat. 2021 Jun; 42(6): 641–666. Published online 2021 May 16. doi: 10.1002/humu.24205
PMCID:
PMC8218941
AbstractArticlePDF–2.4M
6.
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1
Bojana Radojevic, Kaylie Jones, Martin Klein, Margarita Mauro-Herrera, Ronald Kingsley, David G. Birch, Lea D. Bennett
Ophthalmic Genet. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: Ophthalmic Genet. 2021 Feb; 42(1): 15–22. Published online 2020 Oct 14. doi: 10.1080/13816810.2020.1832532
PMCID:
PMC7815954
AbstractArticlePDF–781K
7.
NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90
Wenwen Chen, Wei Wang, Xiaoxia Sun, Shanshan Xie, Xiaoyang Xu, Min Liu, Chunxia Yang, Min Li, Wen Zhang, Wei Liu, Liangjing Wang, Tianhua Zhou, Yuehong Yang
Cell Death Dis. 2020 Jul; 11(7): 534. Published online 2020 Jul 14. doi: 10.1038/s41419-020-02739-9
Correction in:
Cell Death Dis. 2024 Dec; 15(12): 886.
PMCID:
PMC7360774
AbstractArticlePDF–3.3M
8.
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa
Peter Charbel Issa, Peggy Reuter, Laura Kühlewein, Johannes Birtel, Martin Gliem, Anke Tropitzsch, Katherine L. Whitcroft, Hanno J. Bolz, Kenji Ishihara, Robert E. MacLaren, Susan M. Downes, Akio Oishi, Eberhart Zrenner, Susanne Kohl, Thomas Hummel
JAMA Ophthalmol. 2018 Jul; 136(7): 761–769. Published online 2018 May 24. doi: 10.1001/jamaophthalmol.2018.1621
PMCID:
PMC6136054
AbstractArticle
9.
Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy
Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115
PMCID:
PMC6077722
AbstractArticlePDF–2.4M
10.
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach
Simon M. Petersen-Jones, Laurence M. Occelli, Paige A. Winkler, Winston Lee, Janet R. Sparrow, Mai Tsukikawa, Sanford L. Boye, Vince Chiodo, Jenina E. Capasso, Elvir Becirovic, Christian Schön, Mathias W. Seeliger, Alex V. Levin, Stylianos Michalakis, William W. Hauswirth, Stephen H. Tsang
J Clin Invest. 2018 Jan 2; 128(1): 190–206. Published online 2017 Nov 20. doi: 10.1172/JCI95161
PMCID:
PMC5749539
AbstractArticlePDF–23M
11.
Varying the GARP2-to-RDS Ratio Leads to Defects in Rim Formation and Rod and Cone Function
Dibyendu Chakraborty, Shannon M. Conley, Marci L. DeRamus, Steven J. Pittler, Muna I. Naash
Invest Ophthalmol Vis Sci. 2015 Dec; 56(13): 8187–8198. Published online 2015 Dec 28. doi: 10.1167/iovs.15-17785
PMCID:
PMC4699412
AbstractArticlePDF–2.1M
12.
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
AbstractArticlePDF–949K
13.
Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP
Eyad Elkord, May Abd Al Samid, Belal Chaudhary
Oncotarget. 2015 Aug 21; 6(24): 20026–20036. Published online 2015 Jul 30. doi: 10.18632/oncotarget.4771
PMCID:
PMC4652984
AbstractArticlePDF–4.7M
14.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
15.
Channel Modulation and the Mechanism of Light Adaptation in Mouse Rods
Jeannie Chen, Michael L. Woodruff, Tian Wang, Francis A. Concepcion, Daniel Tranchina, Gordon L. Fain
J Neurosci. 2010 Dec 1; 30(48): 16232–16240. doi: 10.1523/JNEUROSCI.2868-10.2010
PMCID:
PMC3010974
AbstractArticlePDF–1.8M
16.
Growth factor receptor-bound protein 14: a new modulator of photoreceptor-specific cyclic-nucleotide-gated channel
Vivek K Gupta, Ammaji Rajala, Roger J Daly, Raju V S Rajala
EMBO Rep. 2010 Nov; 11(11): 861–867. Published online 2010 Oct 1. doi: 10.1038/embor.2010.142
PMCID:
PMC2966952
AbstractArticlePDF–828K
17.
The Retinitis Pigmentosa Mutation c.3444+1G>A in CNGB1 Results in Skipping of Exon 32
Elvir Becirovic, Kostadinka Nakova, Verena Hammelmann, Roman Hennel, Martin Biel, Stylianos Michalakis
PLoS One. 2010; 5(1): e8969. Published online 2010 Jan 29. doi: 10.1371/journal.pone.0008969
PMCID:
PMC2813295
AbstractArticlePDF–178K
18.
Cyclic Nucleotide-Gated Channels Require Ankyrin-G for Transport to the Sensory Cilium of Rod Photoreceptors
Krishnakumar Kizhatil, Sheila A. Baker, Vadim Y. Arshavsky, Vann Bennett
Science. Author manuscript; available in PMC 2009 Dec 12.
Published in final edited form as: Science. 2009 Mar 20; 323(5921): 1614–1617. doi: 10.1126/science.1169789
PMCID:
PMC2792576
AbstractArticlePDF–1.9M
19.
Mechanism of calcium/calmodulin inhibition of rod cyclic nucleotide-gated channels
Matthew C. Trudeau, William N. Zagotta
Proc Natl Acad Sci U S A. 2002 Jun 11; 99(12): 8424–8429. Published online 2002 Jun 4. doi: 10.1073/pnas.122015999
PMCID:
PMC123083
AbstractArticlePDF–331K
20.
Human H/ACA Small Nucleolar RNPs and Telomerase Share Evolutionarily Conserved Proteins NHP2 and NOP10
Vanda Pogacic, François Dragon, Witold Filipowicz
Mol Cell Biol. 2000 Dec; 20(23): 9028–9040. doi: 10.1128/mcb.20.23.9028-9040.2000
PMCID:
PMC86556
AbstractArticlePDF–4.1M

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