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Select item 93199951.

Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors

Edita Kunceviciene, Tomas Muskieta, Margarita Sriubiene, Rasa Liutkeviciene, Alina Smalinskiene, Ingrida Grabauskyte, Ruta Insodaite, Dovile Juoceviciute, Laimutis Kucinskas

Genes (Basel) 2022 Jul; 13(7): 1166. Published online 2022 Jun 28. doi: 10.3390/genes13071166

PMCID:: PMC9319995

Abstract Article PDF–702K

Select item 89345582.

The Role of GJD2(Cx36) in Refractive Error Development

Emilie van der Sande, Annechien E. G. Haarman, Wim H. Quint, Kirke C. D. Tadema, Magda A. Meester-Smoor, Maarten Kamermans, Chris I. De Zeeuw, Caroline C. W. Klaver, Beerend H. J. Winkelman, Adriana I. Iglesias

Invest Ophthalmol Vis Sci. 2022 Mar; 63(3): 5. Published online 2022 Mar 9. doi: 10.1167/iovs.63.3.5

PMCID:: PMC8934558

Abstract Article PDF–3.1M

Select item 83750033.

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development

Annechien E. G. Haarman, Clair A. Enthoven, Milly S. Tedja, Jan R. Polling, J. Willem L. Tideman, Jan E. E. Keunen, Camiel J. F. Boon, Janine F. Felix, H. Raat, Annette J. M. Geerards, Gregorius P. M. Luyten, Gwyneth A. van Rijn, Virginie J. M. Verhoeven, Caroline C. W. Klaver

Invest Ophthalmol Vis Sci. 2021 Aug; 62(10): 16. Published online 2021 Aug 18. doi: 10.1167/iovs.62.10.16

PMCID:: PMC8375003

Abstract Article PDF–559K

Select item 58034924.

Molecular basis for potentiation of Cx36 gap junction channel conductance by n-alcohols and general anesthetics

Vytautas Raškevičius, Vaidas Jotautis, Lina Rimkutė, Alina Marandykina, Mintautė Kazokaitė, Visvaldas Kairys, Vytenis Arvydas Skeberdis

Biosci Rep. 2018 Feb 28; 38(1): BSR20171323. Prepublished online 2018 Jan 3. Published online 2018 Feb 8. doi: 10.1042/BSR20171323

PMCID:: PMC5803492

Abstract Article PDF–1.6M

Select item 36260775.

Neurons and β-Cells of the Pancreas Express Connexin36, Forming Gap Junction Channels that Exhibit Strong Cationic Selectivity

Feliksas F. Bukauskas

J Membr Biol. Author manuscript; available in PMC 2013 Apr 15.

Published in final edited form as: J Membr Biol. 2012 Jun; 245(0): 243–253. Published online 2012 Jun 30. doi: 10.1007/s00232-012-9445-3

PMCID:: PMC3626077

Abstract Article PDF–1.9M

Select item 26054166.

The neuronal connexin36 interacts with and is phosphorylated by CaMKII in a way similar to CaMKII interaction with glutamate receptors

Cantas Alev, Stephanie Urschel, Stephan Sonntag, Georg Zoidl, Alfredo G. Fort, Thorsten Höher, Mamoru Matsubara, Klaus Willecke, David C. Spray, Rolf Dermietzel

Proc Natl Acad Sci U S A. 2008 Dec 30; 105(52): 20964–20969. Published online 2008 Dec 18. doi: 10.1073/pnas.0805408105

PMCID:: PMC2605416

Abstract Article PDF–838K

Select item 25832407.

Human and Mouse Microglia Express Connexin36, and Functional Gap Junctions Are Formed Between Rodent Microglia and Neurons

K. Dobrenis, H.-Y. Chang, M.H. Pina-Benabou, A. Woodroffe, S.C. Lee, R. Rozental, D.C. Spray, E. Scemes

J Neurosci Res. Author manuscript; available in PMC 2008 Nov 16.

Published in final edited form as: J Neurosci Res. 2005 Nov 1; 82(3): 306–315. doi: 10.1002/jnr.20650

PMCID:: PMC2583240

Abstract Article PDF–1.6M

Select item 17358518.

Association of the connexin36 gene with juvenile myoclonic epilepsy

C Mas, N Taske, S Deutsch, M Guipponi, P Thomas, A Covanis, M Friis, M Kjeldsen, G Pizzolato, J Villemure, C Buresi, M Rees, A Malafosse, M Gardiner, S Antonarakis, P Meda

J Med Genet. 2004 Jul; 41(7): e93. doi: 10.1136/jmg.2003.017954

PMCID:: PMC1735851

Summary PDF–166K

Select item 100085849.

Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel

Seu-Na Lee, Hwa-Jin Cho, Hyeongseop Jeong, Bumhan Ryu, Hyuk-Joon Lee, Minsoo Kim, Jejoong Yoo, Jae-Sung Woo, Hyung Ho Lee

Nat Commun. 2023; 14: 1347. Published online 2023 Mar 11. doi: 10.1038/s41467-023-37040-8

PMCID:: PMC10008584

Abstract Article PDF–7.3M

Select item 596860010.

Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania

Edita Kunceviciene, Margarita Sriubiene, Rasa Liutkeviciene, Ilona T. Miceikiene, Alina Smalinskiene

BMC Ophthalmol. 2018; 18: 124. Published online 2018 May 24. doi: 10.1186/s12886-018-0787-1

PMCID:: PMC5968600

Abstract Article PDF–679K

Select item 580556411.

A potential role for neuronal connexin 36 in the pathogenesis of amyotrophic lateral sclerosis

Andrei B. Belousov, Hiroshi Nishimune, Janna V. Denisova, Joseph D. Fontes

Neurosci Lett. Author manuscript; available in PMC 2019 Feb 14.

Published in final edited form as: Neurosci Lett. 2018 Feb 14; 666: 1–4. Published online 2017 Dec 12. doi: 10.1016/j.neulet.2017.12.027

PMCID:: PMC5805564

Abstract Article PDF–438K

Select item 371997812.

Direct association of Connexin36 with zonula occludens-2 and zonula occludens-3

Xinbo Li, Shijun Lu, James I. Nagy

Neurochem Int. Author manuscript; available in PMC 2013 Jul 23.

Published in final edited form as: Neurochem Int. 2009 May-Jun; 54(0): 393–402. doi: 10.1016/j.neuint.2009.01.003

PMCID:: PMC3719978

Abstract Article PDF–2.7M

Select item 263880013.

Cx36 makes channels coupling human pancreatic β-cells, and correlates with insulin expression

Véronique Serre-Beinier, Domenico Bosco, Laurence Zulianello, Anne Charollais, Dorothée Caille, Eric Charpantier, Benoit R. Gauthier, Giuseppe R. Diaferia, Ben N. Giepmans, Roberto Lupi, Piero Marchetti, Shaoping Deng, Léo Buhler, Thierry Berney, Vincenzo Cirulli, Paolo Meda

Hum Mol Genet. 2009 Feb 1; 18(3): 428–439. Published online 2008 Nov 10. doi: 10.1093/hmg/ddn370

PMCID:: PMC2638800

Abstract Article PDF–653K

Select item 411514914.

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14

Abbas M Solouki, Virginie J M Verhoeven, Cornelia M van Duijn, Annemieke J M H Verkerk, M Kamran Ikram, Pirro G Hysi, Dominiek D G Despriet, Leonieke M van Koolwijk, Lintje Ho, Wishal D Ramdas, Monika Czudowska, Robert W A M Kuijpers, Najaf Amin, Maksim Struchalin, Yurii S Aulchenko, Gabriel van Rij, Frans C C Riemslag, Terri L Young, David A Mackey, Timothy D Spector, Theo G M F Gorgels, Jacqueline J M Willemse-Assink, Aaron Isaacs, Rogier Kramer, Sigrid M A Swagemakers, Arthur A B Bergen, Andy A L J van Oosterhout, Ben A Oostra, Fernando Rivadeneira, André G Uitterlinden, Albert Hofman, Paulus T V M de Jong, Christopher J Hammond, Johannes R Vingerling, Caroline C W Klaver

Nat Genet. Author manuscript; available in PMC 2014 Jul 30.

Published in final edited form as: Nat Genet. 2010 Oct; 42(10): 897–901. Published online 2010 Sep 12. doi: 10.1038/ng.663

PMCID:: PMC4115149

Abstract Article PDF–960K

Select item 432632515.

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

Laura E. Mitchell, A.J. Agopian, Angela Bhalla, Joseph T. Glessner, Cecilia E. Kim, Michael D. Swartz, Hakon Hakonarson, Elizabeth Goldmuntz

Hum Mol Genet. 2015 Jan 1; 24(1): 265–273. Published online 2014 Aug 18. doi: 10.1093/hmg/ddu420

PMCID:: PMC4326325

Abstract Article PDF–369K

Select item 298458616.

Expression of connexin genes in the human retina

Goran Söhl, Antonia Joussen, Norbert Kociok, Klaus Willecke

BMC Ophthalmol. 2010; 10: 27. Published online 2010 Oct 27. doi: 10.1186/1471-2415-10-27

PMCID:: PMC2984586

Abstract Article PDF–815K

Select item 416941517.

Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci

Claire L. Simpson, Robert Wojciechowski, Konrad Oexle, Federico Murgia, Laura Portas, Xiaohui Li, Virginie J. M. Verhoeven, Veronique Vitart, Maria Schache, S. Mohsen Hosseini, Pirro G. Hysi, Leslie J. Raffel, Mary Frances Cotch, Emily Chew, Barbara E. K. Klein, Ronald Klein, Tien Yin Wong, Cornelia M. van Duijn, Paul Mitchell, Seang Mei Saw, Maurizio Fossarello, Jie Jin Wang, DCCT/EDIC Research Group, Ozren Polašek, Harry Campbell, Igor Rudan, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Fernando Rivadeneira, Najaf Amin, Lennart C. Karssen, Johannes R. Vingerling, Angela Döring, Thomas Bettecken, Goran Bencic, Christian Gieger, H.-Erich Wichmann, James F. Wilson, Cristina Venturini, Brian Fleck, Phillippa M. Cumberland, Jugnoo S. Rahi, Chris J. Hammond, Caroline Hayward, Alan F. Wright, Andrew D. Paterson, Paul N. Baird, Caroline C. W. Klaver, Jerome I. Rotter, Mario Pirastu, Thomas Meitinger, Joan E. Bailey-Wilson, Dwight Stambolian

PLoS One. 2014; 9(9): e107110. Published online 2014 Sep 18. doi: 10.1371/journal.pone.0107110

PMCID:: PMC4169415

Abstract Article PDF–1.1M

Select item 374056818.

Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia

Virginie J.M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, René Höhn, Stuart MacGregor, Alex W. Hewitt, Abhishek Nag, Ching-Yu Cheng, Ekaterina Yonova-Doing, Xin Zhou, M. Kamran Ikram, Gabriëlle H.S. Buitendijk, George McMahon, John P. Kemp, Beate St. Pourcain, Claire L. Simpson, Kari-Matti Mäkelä, Terho Lehtimäki, Mika Kähönen, Andrew D. Paterson, S. Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B. Jonas, Olavi Pärssinen, Juho Wedenoja, Shea Ping Yip, Daniel W. H. Ho, Chi Pui Pang, Li Jia Chen, Kathryn P. Burdon, Jamie E. Craig, Barbara E. K. Klein, Ronald Klein, Toomas Haller, Andres Metspalu, Chiea-Chuen Khor, E-Shyong Tai, Tin Aung, Eranga Vithana, Wan-Ting Tay, Veluchamy A. Barathi, CREAM, Peng Chen, Ruoying Li, Jiemin Liao, Yingfeng Zheng, Rick T. Ong, Angela Döring, DCCT/EDIC Research Group, David M. Evans, Nicholas J. Timpson, Annemieke J.M.H. Verkerk, Thomas Meitinger, Olli Raitakari, Felicia Hawthorne, Tim D. Spector, Lennart C. Karssen, Mario Pirastu, Federico Murgia, Wei Ang, WTCCC2, Aniket Mishra, Grant W. Montgomery, Craig E. Pennell, Phillippa M. Cumberland, Ioana Cotlarciuc, Paul Mitchell, Jie Jin Wang, Maria Schache, Sarayut Janmahasathian, Robert P. Igo, Jr, Jonathan H. Lass, Emily Chew, Sudha K. Iyengar, the Fuchs’ Genetics Multi-Center Study Group, Theo G.M.F. Gorgels, Igor Rudan, Caroline Hayward, Alan F. Wright, Ozren Polasek, Zoran Vatavuk, James F. Wilson, Brian Fleck, Tanja Zeller, Alireza Mirshahi, Christian Müller, Andre’ G. Uitterlinden, Fernando Rivadeneira, Johannes R. Vingerling, Albert Hofman, Ben A. Oostra, Najaf Amin, Arthur A.B. Bergen, Yik-Ying Teo, Jugnoo S. Rahi, Veronique Vitart, Cathy Williams, Paul N. Baird, Tien-Yin Wong, Konrad Oexle, Norbert Pfeiffer, David A. Mackey, Terri L. Young, Cornelia M. van Duijn, Seang-Mei Saw, Joan E. Bailey Wilson, Dwight Stambolian, Caroline C. Klaver, Christopher J. Hammond

Nat Genet. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Nat Genet. 2013 Mar; 45(3): 314–318. Published online 2013 Feb 10. doi: 10.1038/ng.2554

Correction in:: volume 45 on page 712

PMCID:: PMC3740568

Abstract Article PDF–575K

Select item 377274719.

Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

Ching-Yu Cheng, Maria Schache, M. Kamran Ikram, Terri L. Young, Jeremy A. Guggenheim, Veronique Vitart, Stuart MacGregor, Virginie J.M. Verhoeven, Veluchamy A. Barathi, Jiemin Liao, Pirro G. Hysi, Joan E. Bailey-Wilson, Beate St. Pourcain, John P. Kemp, George McMahon, Nicholas J. Timpson, David M. Evans, Grant W. Montgomery, Aniket Mishra, Ya Xing Wang, Jie Jin Wang, Elena Rochtchina, Ozren Polasek, Alan F. Wright, Najaf Amin, Elisabeth M. van Leeuwen, James F. Wilson, Craig E. Pennell, Cornelia M. van Duijn, Paulus T.V.M. de Jong, Johannes R. Vingerling, Xin Zhou, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Merwyn Chew, Consortium for Refractive Error and Myopia, Kathryn P. Burdon, Jamie E. Craig, Sudha K. Iyengar, Robert P. Igo, Jr., Jonathan H. Lass, Jr., The Fuchs’ Genetics Multi-Center Study Group, Emily Y. Chew, Toomas Haller, Evelin Mihailov, Andres Metspalu, Juho Wedenoja, Claire L. Simpson, Robert Wojciechowski, René Höhn, Alireza Mirshahi, Tanja Zeller, Norbert Pfeiffer, Karl J. Lackner, Wellcome Trust Case Control Consortium 2, Thomas Bettecken, Thomas Meitinger, Konrad Oexle, Mario Pirastu, Laura Portas, Abhishek Nag, Katie M. Williams, Ekaterina Yonova-Doing, Ronald Klein, Barbara E. Klein, S. Mohsen Hosseini, Andrew D. Paterson, The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Kari-Matti Makela, Terho Lehtimaki, Mika Kahonen, Olli Raitakari, Nagahisa Yoshimura, Fumihiko Matsuda, Li Jia Chen, Chi Pui Pang, Shea Ping Yip, Maurice K.H. Yap, Akira Meguro, Nobuhisa Mizuki, Hidetoshi Inoko, Paul J. Foster, Jing Hua Zhao, Eranga Vithana, E-Shyong Tai, Qiao Fan, Liang Xu, Harry Campbell, Brian Fleck, Igor Rudan, Tin Aung, Albert Hofman, André G. Uitterlinden, Goran Bencic, Chiea-Chuen Khor, Hannah Forward, Olavi Pärssinen, Paul Mitchell, Fernando Rivadeneira, Alex W. Hewitt, Cathy Williams, Ben A. Oostra, Yik-Ying Teo, Christopher J. Hammond, Dwight Stambolian, David A. Mackey, Caroline C.W. Klaver, Tien-Yin Wong, Seang-Mei Saw, Paul N. Baird

Am J Hum Genet. 2013 Aug 8; 93(2): 264–277. doi: 10.1016/j.ajhg.2013.06.016

PMCID:: PMC3772747

Abstract Article PDF–959K

Select item 756688120.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

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