PMC Links for Gene (Select 1258) - PMC

Links from Gene

Items: 1 to 20 of 21

<< First< Prev

Page of 2

Next >Last >>

Select item 83037471.

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

Abstract Article PDF–1.5M

Select item 82189412.

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

Abstract Article PDF–2.4M

Select item 78159543.

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

Abstract Article PDF–781K

Select item 61360544.

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

Abstract Article

Select item 28132955.

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

Abstract Article PDF–178K

Select item 1230836.

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

Abstract Article PDF–331K

Select item 453117.

Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)-calmodulin modulation.

T Y Chen, M Illing, L L Molday, Y T Hsu, K W Yau, R S Molday

Proc Natl Acad Sci U S A. 1994 Nov 22; 91(24): 11757–11761. doi: 10.1073/pnas.91.24.11757

PMCID:: PMC45311

Summary Page Browse PDF–1.2M

Select item 103623988.

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

Abstract Article PDF–5.6M

Select item 87381399.

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

Abstract Article PDF–2.5M

Select item 465298410.

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

Abstract Article PDF–4.7M

Select item 574953911.

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

Abstract Article PDF–23M

Select item 469941212.

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

Abstract Article PDF–2.1M

Select item 279257613.

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

Abstract Article PDF–1.9M

Select item 301097414.

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

Abstract Article PDF–1.8M

Select item 296695215.

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

Abstract Article PDF–828K

Select item 465772716.

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 8655617.

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

Abstract Article PDF–4.1M

Select item 978132318.

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

Abstract Article PDF–22M

Select item 736077419.

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

PMCID:: PMC7360774

Abstract Article PDF–3.3M

Select item 607772220.

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

Abstract Article PDF–2.4M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 21

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity