PMC Links for Gene (Select 80184) - PMC

Francesco Testa, Andrea Sodi, Sabrina Signorini, Valentina Di Iorio, Vittoria Murro, Raffaella Brunetti-Pierri, Enza Maria Valente, Marianthi Karali, Paolo Melillo, Sandro Banfi, Francesca Simonelli

Invest Ophthalmol Vis Sci. 2021 Jul; 62(9): 1. Published online 2021 Jul 1. doi: 10.1167/iovs.62.9.1

PMCID:: PMC8267213

Article PDF–776K

Select item 81271324.

Knockout of the CEP290 gene in human induced pluripotent stem cells

Joseph Fogerty, Brian D. Perkins

Stem Cell Res. Author manuscript; available in PMC 2021 May 17.

Published in final edited form as: Stem Cell Res. 2021 Apr; 52: 102243. Published online 2021 Feb 11. doi: 10.1016/j.scr.2021.102243

PMCID:: PMC8127132

Article PDF–749K

Select item 76904225.

A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290

Agnieszka Rafalska, Anna M. Tracewska, Anna Turno-Kręcicka, Milena J. Szafraniec, Marta Misiuk-Hojło

Genes (Basel) 2020 Nov; 11(11): 1240. Published online 2020 Oct 22. doi: 10.3390/genes11111240

PMCID:: PMC7690422

Article PDF–3.6M

Select item 73252676.

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen, Hongqian Liu

Hum Genomics. 2020; 14: 26. Published online 2020 Jun 29. doi: 10.1186/s40246-020-00274-4

PMCID:: PMC7325267

Article PDF–1.4M

Select item 62557897.

A rare human CEP290 variant disrupts the molecular integrity of the primary cilium and impairs Sonic Hedgehog machinery

Michaela B. C. Kilander, Chun-Hung Wang, Chia-Hsiang Chang, Jonathan E. Nestor, Kevin Herold, Jin-Wu Tsai, Michael W. Nestor, Yu-Chih Lin

Sci Rep. 2018; 8: 17335. Published online 2018 Nov 26. doi: 10.1038/s41598-018-35614-x

PMCID:: PMC6255789

Article PDF–2.6M

Select item 60865598.

In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery

Alejandro Garanto, Daniel C. Chung, Lonneke Duijkers, Julio C. Corral-Serrano, Muriël Messchaert, Ru Xiao, Jean Bennett, Luk H. Vandenberghe, Rob W.J. Collin

Hum Mol Genet. 2016 Jun 15; 25(12): 2552–2563. Published online 2016 Apr 22. doi: 10.1093/hmg/ddw118

PMCID:: PMC6086559

Article PDF–718K

Select item 59746939.

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

Leo Sheck, Wayne I.L. Davies, Phillip Moradi, Anthony G. Robson, Neruban Kumaran, Alki C. Liasis, Andrew R. Webster, Anthony T. Moore, Michel Michaelides

Ophthalmology. 2018 Jun; 125(6): 894–903. doi: 10.1016/j.ophtha.2017.12.013

PMCID:: PMC5974693

Article PDF–2.2M

Select item 434007010.

Expanding CEP290 mutational spectrum in ciliopathies

Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean-Michel Rozet, Dominika Swistun, Jerlyn Tolentino, The International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente

Am J Med Genet A. Author manuscript; available in PMC 2015 Feb 25.

Published in final edited form as: Am J Med Genet A. 2009 Oct; 0(10): 2173–2180. doi: 10.1002/ajmg.a.33025

PMCID:: PMC4340070

Article PDF–328K

Select item 368862711.

Visual Acuity Changes in Patients with Leber Congenital Amaurosis (LCA) and Mutations in the CEP290 Gene

J. Jason McAnany, Mohamed A. Genead, Saloni Walia, Arlene V. Drack, Edwin M. Stone, Robert K. Koenekoop, Elias I. Traboulsi, Alison Smith, Richard G. Weleber, Samuel G. Jacobson, Gerald A. Fishman

JAMA Ophthalmol. Author manuscript; available in PMC 2013 Jun 20.

Published in final edited form as: JAMA Ophthalmol. 2013 Feb; 131(2): 178–182. doi: 10.1001/2013.jamaophthalmol.354

PMCID:: PMC3688627

Article PDF–788K

Select item 328321112.

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

Suzanne Yzer, Anneke I. den Hollander, Irma Lopez, Jan-Willem R. Pott, Jan Tjeerd H.N. de Faber, Frans P.M. Cremers, Robert K. Koenekoop, L. Ingeborgh van den Born

Mol Vis. 2012; 18: 412–425. Published online 2012 Feb 10.

PMCID:: PMC3283211

Article PDF–1.0M

Select item 658608013.

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

Alexander Sumaroka, Alexandra V. Garafalo, Evelyn P. Semenov, Rebecca Sheplock, Arun K. Krishnan, Alejandro J. Roman, Samuel G. Jacobson, Artur V. Cideciyan

Invest Ophthalmol Vis Sci. 2019 Jun; 60(7): 2551–2562. doi: 10.1167/iovs.19-27156

PMCID:: PMC6586080

Article PDF–2.0M

Select item 629810414.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Simon A. Ramsbottom, Elisa Molinari, Shalabh Srivastava, Flora Silberman, Charline Henry, Sumaya Alkanderi, Laura A. Devlin, Kathryn White, David H. Steel, Sophie Saunier, Colin G. Miles, John A. Sayer

Proc Natl Acad Sci U S A. 2018 Dec 4; 115(49): 12489–12494. Published online 2018 Nov 16. doi: 10.1073/pnas.1809432115

PMCID:: PMC6298104

Article PDF–1.2M

Select item 577009015.

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

Wei Zhang, Linjing Li, Qin Su, Guangping Gao, Hemant Khanna

Hum Gene Ther. 2018 Jan 1; 29(1): 42–50. Published online 2018 Jan 1. doi: 10.1089/hum.2017.049

PMCID:: PMC5770090

Article PDF–1.3M

Select item 378454216.

Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

Theodore G. Drivas, Erika L.F. Holzbaur, Jean Bennett

J Clin Invest. 2013 Oct 1; 123(10): 4525–4539. Published online 2013 Sep 24. doi: 10.1172/JCI69448

PMCID:: PMC3784542

Article PDF–8.8M

Select item 345438617.

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

Yu-Zhu Cheng, Lorraine Eley, Ann-Marie Hynes, Lynne M. Overman, Roslyn J. Simms, Amy Barker, Helen R. Dawe, Susan Lindsay, John A. Sayer

PLoS One. 2012; 7(9): e44975. Published online 2012 Sep 24. doi: 10.1371/journal.pone.0044975

PMCID:: PMC3454386

Article PDF–1.2M

Select item 304816418.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luis Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y Kroes, Johan Vande Walle, Thomy de Ravel, Bart P Leroy, Elfride De Baere

Hum Mutat. 2010 Oct; 31(10): E1709–E1766. doi: 10.1002/humu.21336

PMCID:: PMC3048164

Article PDF–430K

Select item 259796219.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran, John F O'Toole, John A Sayer, Friedhelm Hildebrandt

J Med Genet. 2007 Oct; 44(10): 657–663. Published online 2007 Jul 6. doi: 10.1136/jmg.2007.052027

PMCID:: PMC2597962

Article PDF–1.2M

Select item 195092920.

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzales, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie-Christine Dauge, Joëlle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Françoise Menez, Anne-Marie Beaufrère, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Munnich, Stanislas Lyonnet, Marie-Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha-Razavi, Tania Attié-Bitach

Am J Hum Genet. 2007 Jul; 81(1): 170–179. Published online 2007 Jun 4. doi: 10.1086/519494

PMCID:: PMC1950929

Article PDF–960K

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