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Items: 1 to 20 of 29

1.
KCNV2-associated retinopathy: genotype–phenotype correlations – KCNV2 study group report 3
Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Vargas, Alberta A H J Thiadens, Emanuel R de Carvalho, Xuan-Than-An Nguyen, Gavin Arno, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belén Jiménez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño Salas, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M Huckfeldt, Eyal Banin, Mark E Pennesi, Arif O Khan, Bernd Wissinger, Andrew R Webster, Elise Heon, Camiel J F Boon, Eberhard Zrenner, Michel Michaelides
Br J Ophthalmol. 2024 Aug; 108(8): 1137–1144. Published online 2023 Oct 18. doi: 10.1136/bjo-2023-323640
PMCID:
PMC11287651
AbstractArticlePDF–3.6M
2.
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response
Pei-Kang Liu, Joseph Ryu, Lung-Kun Yeh, Kuan-Jen Chen, Stephen H. Tsang, Laura Liu, Nan-Kai Wang
Ophthalmic Genet. Author manuscript; available in PMC 2023 Jun 1.
Published in final edited form as: Ophthalmic Genet. 2021 Aug; 42(4): 458–463. Published online 2021 May 7. doi: 10.1080/13816810.2021.1920039
PMCID:
PMC10234695
AbstractArticlePDF–1.3M
3.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
4.
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E. Vargas, Alberta A.H.J. Thiadens, Emanuel R. de Carvalho, Xuan-Thanh-An Nguyen, Thales Antônio Cabral De Guimarães, Anthony G. Robson, Omar A. Mahroo, Nikolas Pontikos, Gavin Arno, Yu Fujinami-Yokokawa, Shaun Michael Leo, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belen Jimenez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M. Huckfeldt, Camiel J.F. Boon, Eyal Banin, Mark E. Pennesi, Bernd Wissinger, Andrew R. Webster, Elise Héon, Arif O. Khan, Eberhart Zrenner, Michel Michaelides
Am J Ophthalmol. 2021 Oct; 230: 1–11. doi: 10.1016/j.ajo.2021.03.004
PMCID:
PMC8710866
AbstractArticlePDF–1.8M
5.
Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family
Man Liu, Yingchuan Zhu, Lian Huang, Wenhao Jiang, Na Wu, Yue Song, Yilu Lu, Yongxin Ma
Mol Genet Genomic Med. 2021 Oct; 9(10): e1795. Published online 2021 Sep 18. doi: 10.1002/mgg3.1795
PMCID:
PMC8580074
AbstractArticlePDF–1.6M
6.
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1
Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun M. Leo, Ajoy Vincent, Fadi Nasser, Thales Antônio Cabral De Guimarães, Samer Khateb, Nikolas Pontikos, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Mauricio E. Vargas, Alberta A.H.J. Thiadens, Emanuel R. de Carvalho, Xuan-Thanh-An Nguyen, Gavin Arno, Omar A. Mahroo, Maria Inmaculada Martin-Merida, Belen Jimenez-Rolando, Gema Gordo, Ester Carreño, Ayuso Carmen, Dror Sharon, Susanne Kohl, Rachel M. Huckfeldt, Bernd Wissinger, Camiel J.F. Boon, Eyal Banin, Mark E. Pennesi, Arif O. Khan, Andrew R. Webster, Eberhart Zrenner, Elise Héon, Michel Michaelides
Am J Ophthalmol. 2021 May; 225: 95–107. doi: 10.1016/j.ajo.2020.11.022
PMCID:
PMC8186730
AbstractArticlePDF–1.6M
7.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
8.
Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K+ Channel Subunits Kv8.2 and K2.1
Xiaotian Jiang, Rabab Rashwan, Valentina Voigt, Jeanne Nerbonne, David M. Hunt, Livia S. Carvalho
Int J Mol Sci. 2021 May; 22(9): 4877. Published online 2021 May 5. doi: 10.3390/ijms22094877
PMCID:
PMC8124447
AbstractArticlePDF–8.1M
9.
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy
Thales A. C. De Guimaraes, Michalis Georgiou, Anthony G. Robson, Michel Michaelides
Ophthalmic Genet. 2020; 41(3): 208–215. Published online 2020 May 22. doi: 10.1080/13816810.2020.1766087
PMCID:
PMC7446039
AbstractArticlePDF–1.5M
10.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
11.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
AbstractArticlePDF–2.3M
12.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
13.
Pharmacogenetic and case–control study on potassium channel related gene variants and genetic generalized epilepsy
Jian Qu, Shao-Hua Lu, Zhi-Li Lu, Ping Xu, Da-Xiong Xiang, Qiang Qu
Medicine (Baltimore) 2017 Jun; 96(26): e7321. Published online 2017 Jun 30. doi: 10.1097/MD.0000000000007321
PMCID:
PMC5500063
AbstractArticlePDF–266K
14.
Novel Compound Heterozygous Mutations Resulting in Cone Dystrophy With Supernormal Rod Response
Tamara Lee Lenis, Elona Dhrami-Gavazi, Winston Lee, Sri Krishna Mukkamala, Mirela Raluca Tabacaru, Lawrence Yannuzzi, Peter Gouras, Stephen H. Tsang
JAMA Ophthalmol. Author manuscript; available in PMC 2015 Mar 29.
Published in final edited form as: JAMA Ophthalmol. 2013 Nov; 131(11): 1482–1485. doi: 10.1001/jamaophthalmol.2013.4681
PMCID:
PMC4377131
ArticlePDF–826K
15.
Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic in KCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”
Ajoy Vincent, Tom Wright, Yaiza Garcia-Sanchez, Marsha Kisilak, Melanie Campbell, Carol Westall, Elise Héon
Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2014 Jan 3.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2013 Jan 30; 54(1): 898–908. Published online 2013 Jan 30. doi: 10.1167/iovs.12-10971
PMCID:
PMC3880354
AbstractArticlePDF–783K
16.
Genome-wide association study identifies loci affecting blood copper, selenium and zinc
David M. Evans, Gu Zhu, Veronica Dy, Andrew C. Heath, Pamela A. F. Madden, John P. Kemp, George McMahon, Beate St Pourcain, Nicholas J. Timpson, Jean Golding, Debbie A. Lawlor, Colin Steer, Grant W. Montgomery, Nicholas G. Martin, George Davey Smith, John B. Whitfield
Hum Mol Genet. 2013 Oct 1; 22(19): 3998–4006. Published online 2013 May 29. doi: 10.1093/hmg/ddt239
PMCID:
PMC3766178
AbstractArticlePDF–714K
17.
Molecular characteristics of four Japanese cases with KCNV2 retinopathy: Report of novel disease-causing variants
Kaoru Fujinami, Kazushige Tsunoda, Natsuko Nakamura, Yu Kato, Toru Noda, Kei Shinoda, Kaoru Tomita, Tetsuhisa Hatase, Tomoaki Usui, Masakazu Akahori, Takeshi Itabashi, Takeshi Iwata, Yoko Ozawa, Kazuo Tsubota, Yozo Miyake
Mol Vis. 2013; 19: 1580–1590. Published online 2013 Jul 20.
PMCID:
PMC3718491
AbstractArticlePDF–3.9M
18.
Functional Analysis of Missense Mutations in Kv8.2 Causing Cone Dystrophy with Supernormal Rod Electroretinogram
Katie E. Smith, Susan E. Wilkie, Joseph T. Tebbs-Warner, Bradley J. Jarvis, Linn Gallasch, Martin Stocker, David M. Hunt
J Biol Chem. 2012 Dec 21; 287(52): 43972–43983. Published online 2012 Oct 31. doi: 10.1074/jbc.M112.388033
PMCID:
PMC3527980
AbstractArticlePDF–2.7M
19.
Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population
Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte
PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954
PMCID:
PMC3522587
AbstractArticlePDF–130K
20.
Rod and Cone Function in Patients with KCNV2 Retinopathy
Ditta Zobor, Susanne Kohl, Bernd Wissinger, Eberhart Zrenner, Herbert Jägle
PLoS One. 2012; 7(10): e46762. Published online 2012 Oct 15. doi: 10.1371/journal.pone.0046762
PMCID:
PMC3471896
AbstractArticlePDF–1.3M

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