PMC Articles for MedGen (Select 346808) - PMC

Melanie M. Sohocki, Sara J. Bowne, Lori S. Sullivan, Seth Blackshaw, Constance L. Cepko, Annette M. Payne, Shomi S. Bhattacharya, Shagufta Khaliq, S. Qasim Mehdi, David G. Birch, Wilbur R. Harrison, Frederick F.B. Elder, John R. Heckenlively, Stephen P. Daiger

Nat Genet. Author manuscript; available in PMC 2008 Nov 7.

Published in final edited form as: Nat Genet. 2000 Jan; 24(1): 79–83. doi: 10.1038/71732

PMCID:: PMC2581448

Abstract Article PDF–612K

Select item 27012085.

Catalytic Properties of Botulinum Neurotoxins Subtypes A3 and A4

James S. Henkel, Mark Jacobson, William Tepp, Christina Pier, Eric A. Johnson, Joseph T. Barbieri

Biochemistry. Author manuscript; available in PMC 2010 Mar 24.

Published in final edited form as: Biochemistry. 2009 Mar 24; 48(11): 2522–2528. doi: 10.1021/bi801686b

PMCID:: PMC2701208

Abstract Article PDF–1.3M

Select item 95615426.

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis

Amy Leung, Almudena Sacristan-Reviriego, Pedro R.L. Perdigão, Hali Sai, Michalis Georgiou, Angelos Kalitzeos, Amanda-Jayne F. Carr, Peter J. Coffey, Michel Michaelides, James Bainbridge, Michael E. Cheetham, Jacqueline van der Spuy

Stem Cell Reports. 2022 Oct 11; 17(10): 2187–2202. Published online 2022 Sep 8. doi: 10.1016/j.stemcr.2022.08.005

PMCID:: PMC9561542

Abstract Article PDF–6.0M

Select item 94079837.

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review

Joseph Griffith, III, Kareem Sioufi, Laurie Wilbanks, George N. Magrath, Emil A. T. Say, Michael J. Lyons, Meg Wilkes, Gurpur Shashidhar Pai, Mae Millicent Winfrey Peterseim

Genes (Basel) 2022 Aug; 13(8): 1490. Published online 2022 Aug 20. doi: 10.3390/genes13081490

PMCID:: PMC9407983

Abstract Article PDF–788K

Select item 37744008.

Interaction of Aryl Hydrocarbon Receptor-interacting Protein-like 1 with the Farnesyl Moiety

Anurima Majumder, Kota N. Gopalakrishna, Pallavi Cheguru, Lokesh Gakhar, Nikolai O. Artemyev

J Biol Chem. 2013 Jul 19; 288(29): 21320–21328. Published online 2013 Jun 4. doi: 10.1074/jbc.M113.476242

PMCID:: PMC3774400

Abstract Article PDF–1.5M

Select item 70965299.

Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1

Dunja Lukovic, Ana Artero Castro, Koray Dogan Kaya, Daniella Munezero, Linn Gieser, Carlota Davó-Martínez, Marta Corton, Nicolás Cuenca, Anand Swaroop, Visvanathan Ramamurthy, Carmen Ayuso, Slaven Erceg

Sci Rep. 2020; 10: 5426. Published online 2020 Mar 25. doi: 10.1038/s41598-020-62047-2

PMCID:: PMC7096529

Abstract Article PDF–5.1M

Select item 481508610.

Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7

Leslie A. Lyons, Erica K. Creighton, Hasan Alhaddad, Holly C. Beale, Robert A. Grahn, HyungChul Rah, David J. Maggs, Christopher R. Helps, Barbara Gandolfi

BMC Genomics. 2016; 17: 265. Published online 2016 Mar 31. doi: 10.1186/s12864-016-2595-4

PMCID:: PMC4815086

Abstract Article PDF–766K

Select item 1077881611.

RNA-Seq Analysis of Trans-Differentiated ARPE-19 Cells Transduced by AAV9-AIPL1 Vectors

Alima Galieva, Alexander Egorov, Alexander Malogolovkin, Andrew Brovin, Alexander Karabelsky

Int J Mol Sci. 2024 Jan; 25(1): 197. Published online 2023 Dec 22. doi: 10.3390/ijms25010197

PMCID:: PMC10778816

Abstract Article PDF–9.4M

Select item 279655812.

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Am J Ophthalmol. Author manuscript; available in PMC 2009 Dec 21.

Published in final edited form as: Am J Ophthalmol. 2000 Jun; 129(6): 834–835. doi: 10.1016/s0002-9394(00)00517-1

PMCID:: PMC2796558

Abstract Article PDF–2.5M

Select item 286079113.

Which Leber congenital amaurosis patients are eligible for gene therapy trials?

Arlene V. Drack, Rebecca Johnston, Edwin M. Stone

J AAPOS. Author manuscript; available in PMC 2010 Apr 28.

Published in final edited form as: J AAPOS. 2009 Oct; 13(5): 463–465. doi: 10.1016/j.jaapos.2009.08.006

PMCID:: PMC2860791

Abstract Article PDF–32K

Select item 266801014.

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Molly Bray, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, Rui Chen

Am J Hum Genet. 2009 Mar 13; 84(3): 380–387. doi: 10.1016/j.ajhg.2009.02.005

Correction in:: Am J Hum Genet. 2010 Feb 12; 86(2): 293.

PMCID:: PMC2668010

Abstract Article PDF–610K

Select item 269598715.

Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population

Yumei Li, Hui Wang, Jianlan Peng, Richard A. Gibbs, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Rui Chen

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Jun 14.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Mar; 50(3): 1336–1343. Published online 2008 Oct 20. doi: 10.1167/iovs.08-2589

PMCID:: PMC2695987

Abstract Article PDF–1016K

Select item 1021900516.

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl

Int J Mol Sci. 2023 May; 24(10): 8915. Published online 2023 May 17. doi: 10.3390/ijms24108915

PMCID:: PMC10219005

Abstract Article PDF–5.1M

Select item 274263917.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India

Periasamy Sundaresan, P. Vijayalakshmi, Stewart Thompson, Audrey C. Ko, John H. Fingert, Edwin M. Stone

Mol Vis. 2009; 15: 1781–1787. Published online 2009 Sep 4.

PMCID:: PMC2742639

Abstract Article PDF–1.7M

Select item 277013418.

Nephronophthisis

Rémi Salomon, Sophie Saunier, Patrick Niaudet

Pediatr Nephrol. 2009; 24(12): 2333–2344. Published online 2008 Jul 8. doi: 10.1007/s00467-008-0840-z

PMCID:: PMC2770134

Abstract Article PDF–351K

Select item 965804019.

Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series

Hiram J. Jimenez, Rebecca A. Procopio, Tobin B. T. Thuma, Molly H. Marra, Natalio Izquierdo, Michael A. Klufas, Aaron Nagiel, Mark E. Pennesi, Jose S. Pulido

Int J Mol Sci. 2022 Nov; 23(21): 13361. Published online 2022 Nov 1. doi: 10.3390/ijms232113361

PMCID:: PMC9658040

Abstract Article PDF–418K

Select item 280497120.

Gene Therapy with a Promoter Targeting Both Rods and Cones Rescues Retinal Degeneration Caused by AIPL1 Mutations

Xun Sun, Basil Pawlyk, Xiaoyun Xu, Xiaoqing Liu, Oleg Bulgakov, Michael Adamian, Michael A. Sandberg, Shahrokh C. Khani, Mei-Hong Tan, Alexander J. Smith, Robin R. Ali, Tiansen Li

Gene Ther. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Gene Ther. 2010 Jan; 17(1): 117–131. Published online 2009 Aug 27. doi: 10.1038/gt.2009.104

PMCID:: PMC2804971

Abstract Article PDF–4.8M

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