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Select item 50548391.

Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, Annelot Baert, Marieke De Bruyne, Caroline Van Cauwenbergh, Hannah Verdin, Miriam Bauwens, Maté Ongenaert, Mineo Kondo, Françoise Meire, Akira Murakami, Reiner A. Veitia, Bart P. Leroy, Elfride De Baere

Hum Mutat. 2015 Dec; 36(12): 1188–1196. Published online 2015 Oct 1. doi: 10.1002/humu.22899

PMCID:: PMC5054839

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Select item 62060042.

Relative frequency of inherited retinal dystrophies in Brazil

Fabiana Louise Motta, Renan Paulo Martin, Rafael Filippelli-Silva, Mariana Vallim Salles, Juliana Maria Ferraz Sallum

Sci Rep. 2018; 8: 15939. Published online 2018 Oct 29. doi: 10.1038/s41598-018-34380-0

PMCID:: PMC6206004

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Select item 44980623.

Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants

Yo Sasaki, Zachary Margolin, Benjamin Borgo, James J. Havranek, Jeffrey Milbrandt

J Biol Chem. 2015 Jul 10; 290(28): 17228–17238. Published online 2015 May 27. doi: 10.1074/jbc.M115.637850

PMCID:: PMC4498062

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Select item 36576144.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Robert K. Koenekoop, Hui Wang, Jacek Majewski, Xia Wang, Irma Lopez, Huanan Ren, Yiyun Chen, Yumei Li, Gerald A. Fishman, Mohammed Genead, Jeremy Schwartzentruber, Naimesh Solanki, Elias I. Traboulsi, Jingliang Cheng, Clare V. Logan, Martin McKibbin, Bruce E. Hayward, David A. Parry, Colin A. Johnson, Mohammed Nageeb, Finding of Rare Disease Genes (FORGE) Canada Consortium, James A. Poulter, Moin D. Mohamed, Hussain Jafri, Yasmin Rashid, Graham R. Taylor, Vafa Keser, Graeme Mardon, Huidan Xu, Chris F. Inglehearn, Qing Fu, Carmel Toomes, Rui Chen

Nat Genet. Author manuscript; available in PMC 2013 May 20.

Published in final edited form as: Nat Genet. 2012 Sep; 44(9): 1035–1039. Published online 2012 Jul 29. doi: 10.1038/ng.2356

PMCID:: PMC3657614

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Select item 34545325.

NMNAT1 mutations cause Leber congenital amaurosis

Marni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, Chitra Kannabiran, Zoe Fonseca-Kelly, Christina Chakarova, Isabelle Audo, Donna S Mackay, Christina Zeitz, Arundhati Dev Borman, Magdalena Staniszewska, Rachna Shukla, Lakshmi Palavalli, Saddek Mohand-Said, Naushin H Waseem, Subhadra Jalali, Juan C Perin, Emily Place, Julian Ostrovsky, Rui Xiao, Shomi S Bhattacharya, Mark Consugar, Andrew R Webster, José-Alain Sahel, Anthony T Moore, Eliot L Berson, Qin Liu, Xiaowu Gai, Eric A. Pierce

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

Published in final edited form as: Nat Genet. 2012 Sep; 44(9): 1040–1045. Published online 2012 Jul 29. doi: 10.1038/ng.2361

PMCID:: PMC3454532

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Select item 75912476.

SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration

Yo Sasaki, Hiroki Kakita, Shunsuke Kubota, Abdoulaye Sene, Tae Jun Lee, Norimitsu Ban, Zhenyu Dong, Joseph B Lin, Sanford L Boye, Aaron DiAntonio, Shannon E Boye, Rajendra S Apte, Jeffrey Milbrandt

eLife. 2020; 9: e62027. Published online 2020 Oct 27. doi: 10.7554/eLife.62027

PMCID:: PMC7591247

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Select item 73974067.

Gene Therapy Preserves Retinal Structure and Function in a Mouse Model of NMNAT1-Associated Retinal Degeneration

Scott H. Greenwald, Emily E. Brown, Michael J. Scandura, Erin Hennessey, Raymond Farmer, Basil S. Pawlyk, Ru Xiao, Luk H. Vandenberghe, Eric A. Pierce

Mol Ther Methods Clin Dev. 2020 Sep 11; 18: 582–594. Published online 2020 Jul 9. doi: 10.1016/j.omtm.2020.07.003

PMCID:: PMC7397406

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Select item 105558568.

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Feb; 246: 107–121. doi: 10.1016/j.ajo.2022.09.002

PMCID:: PMC10555856

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Select item 105311659.

Foveal Hypoplasia in CRB1-Related Retinopathies

Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee

Int J Mol Sci. 2023 Sep; 24(18): 13932. Published online 2023 Sep 11. doi: 10.3390/ijms241813932

PMCID:: PMC10531165

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Select item 1021900510.

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

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Select item 1021801711.

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon Woo

Genes (Basel) 2023 May; 14(5): 1057. Published online 2023 May 8. doi: 10.3390/genes14051057

PMCID:: PMC10218017

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Select item 1010730712.

Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA^CEP290 patients

Andrea L. Minella, Kristina Narfström Wiechel, Simon M. Petersen‐Jones

Vet Ophthalmol. 2023 Jan; 26(1): 4–11. Published online 2022 Dec 9. doi: 10.1111/vop.13052

PMCID:: PMC10107307

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Select item 983700713.

Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS

Anna Skorczyk-Werner, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Maciej Robert Krawczyński

J Appl Genet. 2023; 64(1): 89–104. Published online 2022 Nov 12. doi: 10.1007/s13353-022-00733-9

PMCID:: PMC9837007

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Select item 981665014.

Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development

Hiroshi Kuribayashi, Miku Katahira, Makoto Aihara, Yutaka Suzuki, Sumiko Watanabe

Mol Biol Cell. 2023 Jan 1; 34(1): ar4. Published online 2022 Dec 15. doi: 10.1091/mbc.E22-03-0078

PMCID:: PMC9816650

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Select item 965159915.

Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence

Masha Kolesnikova, Jose Ronaldo Lima de Carvalho, Jr., Rait Parmann, Angela H. Kim, Vinit B. Mahajan, Stephen H. Tsang, Janet R. Sparrow

Mol Genet Genomic Med. 2022 Nov; 10(11): e2038. Published online 2022 Oct 12. doi: 10.1002/mgg3.2038

PMCID:: PMC9651599

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Select item 950091616.

Microseek: A Protein-Based Metagenomic Pipeline for Virus Diagnostic and Discovery

Philippe Pérot, Thomas Bigot, Sarah Temmam, Béatrice Regnault, Marc Eloit

Viruses. 2022 Sep; 14(9): 1990. Published online 2022 Sep 8. doi: 10.3390/v14091990

PMCID:: PMC9500916

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Select item 926690517.

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, Urs Graf, Luzy Bähr, Alessandro Maspoli, Annette Hackenberg, Raimund Kottke, Christina Gerth-Kahlert, Wolfgang Berger

Int J Mol Sci. 2022 Jul; 23(13): 7382. Published online 2022 Jul 2. doi: 10.3390/ijms23137382

PMCID:: PMC9266905

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Select item 870097618.

In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention

Julia-Sophia Bellingrath, Michelle E. McClements, Maria Kaukonen, Manuel Dominik Fischer, Robert E. MacLaren

Genes (Basel) 2021 Dec; 12(12): 1908. Published online 2021 Nov 27. doi: 10.3390/genes12121908

PMCID:: PMC8700976

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Select item 857331019.

Metabolic and genetic determinants for progression to severe liver disease in subjects with obesity from the UK Biobank

Antonio De Vincentis, Federica Tavaglione, Rocco Spagnuolo, Roberta Pujia, Dario Tuccinardi, Gianluca Mascianà, Antonio Picardi, Raffaele Antonelli Incalzi, Luca Valenti, Stefano Romeo, Umberto Vespasiani-Gentilucci

Int J Obes (Lond) 2022; 46(3): 486–493. Published online 2021 Nov 8. doi: 10.1038/s41366-021-01015-w

PMCID:: PMC8573310

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Select item 839626520.

Selective Expression of a SNARE-Cleaving Protease in Peripheral Sensory Neurons Attenuates Pain-Related Gene Transcription and Neuropeptide Release

Wanzhi Wang, Miaomiao Kong, Yu Dou, Shanghai Xue, Yang Liu, Yinghao Zhang, Weiwei Chen, Yanqing Li, Xiaolong Dai, Jianghui Meng, Jiafu Wang

Int J Mol Sci. 2021 Aug; 22(16): 8826. Published online 2021 Aug 17. doi: 10.3390/ijms22168826

PMCID:: PMC8396265

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