Publications:

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The Essential Role of Light-Induced Autophagy in the Inner Choroid/Outer Retinal Neurovascular Unit in Baseline Conditions and Degeneration.

International Journal Of Molecular Sciences

Pinelli, Roberto R; Ferrucci, Michela M; Berti, Caterina C; Biagioni, Francesca F; Scaffidi, Elena E; Bumah, Violet Vakunseth VV; Busceti, Carla L CL; Lenzi, Paola P; Lazzeri, Gloria G; Fornai, Francesco F

Publication Date: 2023-05-19

Variant appearance in text: RHO: P23H

PubMed Link: 37240326

Variant Present in the following documents:

• ijms-24-08979.pdf

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Gene-agnostic approaches to treating inherited retinal degenerations.

Frontiers In Cell And Developmental Biology

Chew, Lindsey A LA; Iannaccone, Alessandro A

Publication Date: 2023

Variant appearance in text: RHO: P23H

PubMed Link: 37123404

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• Main text
• fcell-11-1177838.pdf

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Overcoming Treatment Challenges in Posterior Segment Diseases with Biodegradable Nano-Based Drug Delivery Systems.

Pharmaceutics

Wu, Kevin Y KY; Joly-Chevrier, Maxine M; Akbar, Dania D; Tran, Simon D SD

Publication Date: 2023-03-29

Variant appearance in text: RHO: P23H

PubMed Link: 37111579

Variant Present in the following documents:

• pharmaceutics-15-01094.pdf

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Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Frontiers In Neuroscience

Zhen, Fangyuan F; Zou, Tongdan T; Wang, Ting T; Zhou, Yongwei Y; Dong, Shuqian S; Zhang, Houbin H

Publication Date: 2023

Variant appearance in text: RHO: P23H

PubMed Link: 37077319

Variant Present in the following documents:

• Main text
• fnins-17-1132179.pdf

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Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation.

Medrxiv : The Preprint Server For Health Sciences

Kandoi, Sangeetha S; Martinez, Cassandra C; Chen, Kevin Xu KX; Mansfield, Brian C BC; Duncan, Jacque L JL; Lamba, Deepak A DA

Publication Date: 2023-03-02

Variant appearance in text: RHO: P23H

PubMed Link: 36909455

Variant Present in the following documents:

• Main text
• nihpp-2023.02.27.23286248v1.pdf

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Mutation-independent gene knock-in therapy targeting 5'UTR for autosomal dominant retinitis pigmentosa.

Signal Transduction And Targeted Therapy

Hoang, Duc Anh DA; Liao, Baoshan B; Zheng, Zongli Z; Xiong, Wenjun W

Publication Date: 2023-03-08

Variant appearance in text: RHO: P23H

PubMed Link: 36882423

Variant Present in the following documents:

• Main text
• 41392_2022_Article_1308.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RHO: 68C>A; Pro23His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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DNAJB12 and Hsp70 Mediate Triage of Misfolded Membrane Proteins for Proteasomal versus Lysosomal Degradation.

Autophagy Reports

Kennedy, Andrew A; Cyr, Douglas M DM

Publication Date: 2022

Variant appearance in text: RHO: P23H

PubMed Link: 36743458

Variant Present in the following documents:

• nihms-1866742.pdf

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Decitabine improves MMS-induced retinal photoreceptor cell damage by targeting DNMT3A and DNMT3B.

Frontiers In Molecular Neuroscience

Ji, Yanli Y; Zhao, Meng M; Qiao, Xiaomeng X; Peng, Guang-Hua GH

Publication Date: 2022

Variant appearance in text: RHO: P23H

PubMed Link: 36704326

Variant Present in the following documents:

• Main text
• fnmol-15-1057365.pdf

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Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Genes

Lynn, Jacob J; Raney, Austin A; Britton, Nathaniel N; Ramoin, Josh J; Yang, Ryan W RW; Radojevic, Bojana B; McClard, Cynthia K CK; Kingsley, Ronald R; Coussa, Razek Georges RG; Bennett, Lea D LD

Publication Date: 2022-12-26

Variant appearance in text: RHO: 68C>A; Pro23His

PubMed Link: 36672815

Variant Present in the following documents:

• genes-14-00074.pdf

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Overexpression of Rhodopsin or Its Mutants Leads to Energy Metabolism Dysfunction in 661w Cells.

Investigative Ophthalmology & Visual Science

Liu, Yang Y; Wang, Xin X; Gong, Ruowen R; Xu, Gezhi G; Zhu, Min M

Publication Date: 2022-12-01

Variant appearance in text: RHO: P23H

PubMed Link: 36469028

Variant Present in the following documents:

• Main text
• iovs-63-13-2.pdf

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GADD34 Ablation Exacerbates Retinal Degeneration in P23H RHO Mice.

International Journal Of Molecular Sciences

Saltykova, Irina V IV; Zhylkibayev, Assylbek A; Gorbatyuk, Oleg S OS; Gorbatyuk, Marina S MS

Publication Date: 2022-11-09

Variant appearance in text: RHO: P23H

PubMed Link: 36430227

Variant Present in the following documents:

• Main text
• ijms-23-13748.pdf

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Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology.

Pharmaceutics

Amanat, Man M; Nemeth, Christina L CL; Fine, Amena Smith AS; Leung, Doris G DG; Fatemi, Ali A

Publication Date: 2022-11-05

Variant appearance in text: RHO: P23H

PubMed Link: 36365206

Variant Present in the following documents:

• pharmaceutics-14-02389.pdf

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XLRS Rat with Rs1-/Y Exon-1-Del Shows Failure of Early Postnatal Outer Retina Development.

Genes

Ye, Eun-Ah EA; Zeng, Yong Y; Thomas, Serafina S; Sun, Ning N; Smit-McBride, Zeljka Z; Sieving, Paul A PA

Publication Date: 2022-10-31

Variant appearance in text: OPN2: P23H

PubMed Link: 36360232

Variant Present in the following documents:

• Main text
• genes-13-01995.pdf

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Gene regulatory and gene editing tools and their applications for retinal diseases and neuroprotection: From proof-of-concept to clinical trial.

Frontiers In Neuroscience

Altay, Halit Yusuf HY; Ozdemir, Fatma F; Afghah, Ferdows F; Kilinc, Zeynep Z; Ahmadian, Mehri M; Tschopp, Markus M; Agca, Cavit C

Publication Date: 2022

Variant appearance in text: RHO: P23H

PubMed Link: 36340792

Variant Present in the following documents:

• Main text
• fnins-16-924917.pdf

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Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: challenges and opportunities.

Asian Journal Of Pharmaceutical Sciences

Lohia, Aayushi A; Sahel, Deepak Kumar DK; Salman, Mohd M; Singh, Vivek V; Mariappan, Indumathi I; Mittal, Anupama A; Chitkara, Deepak D

Publication Date: 2022-03

Variant appearance in text: RHO: P23H

PubMed Link: 36320315

Variant Present in the following documents:

• Main text
• main.pdf

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Automated identification of sequence-tailored Cas9 proteins using massive metagenomic data.

Nature Communications

Ciciani, Matteo M; Demozzi, Michele M; Pedrazzoli, Eleonora E; Visentin, Elisabetta E; Pezzè, Laura L; Signorini, Lorenzo Federico LF; Blanco-Miguez, Aitor A; Zolfo, Moreno M; Asnicar, Francesco F; Casini, Antonio A; Cereseto, Anna A; Segata, Nicola N

Publication Date: 2022-10-29

Variant appearance in text: RHO: P23H

PubMed Link: 36309502

Variant Present in the following documents:

• 41467_2022_Article_34213.pdf
• 41467_2022_34213_MOESM1_ESM.pdf

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Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Molecular Vision

Gupta, Priya R PR; Kheir, Wajiha W; Peng, Bo B; Duan, Jie J; Chiang, John P-W JP; Iannaccone, Alessandro A

Publication Date: 2022

Variant appearance in text: RHO: P23H

PubMed Link: 36284670

Variant Present in the following documents:

• Main text
• mv-v28-203.pdf

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Human retinal organoids harboring IMPG2 mutations exhibit a photoreceptor outer segment phenotype that models advanced retinitis pigmentosa.

Stem Cell Reports

Mayerl, Steven J SJ; Bajgai, Simona S; Ludwig, Allison L AL; Jager, Lindsey D LD; Williams, Brittany N BN; Bacig, Cole C; Stoddard, Christopher C; Sinha, Divya D; Philpot, Benjamin D BD; Gamm, David M DM

Publication Date: 2022-11-08

Variant appearance in text: RHO: P23H

PubMed Link: 36206764

Variant Present in the following documents:

• main.pdf
• mmc2.pdf

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Precision genome editing in the eye.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Suh, Susie S; Choi, Elliot H EH; Raguram, Aditya A; Liu, David R DR; Palczewski, Krzysztof K

Publication Date: 2022-09-27

Variant appearance in text: RHO: P23H

PubMed Link: 36122230

Variant Present in the following documents:

• pnas.202210104.pdf

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Loss of Fas Receptor Function Preserves Photoreceptor Structure and Function in Two Mouse Models of Inherited Retinal Degeneration.

Investigative Ophthalmology & Visual Science

Yao, Jingyu J; Wang, Tiantian T; Jia, Lin L; Qiu, Yaoyan Y; Zacks, David N DN

Publication Date: 2022-09-01

Variant appearance in text: RHO: P23H

PubMed Link: 36083588

Variant Present in the following documents:

• Main text
• iovs-63-10-5.pdf

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In vitro Model Systems for Studies Into Retinal Neuroprotection.

Frontiers In Neuroscience

Zhu, Yu Y; Cao, Bowen B; Tolone, Arianna A; Yan, Jie J; Christensen, Gustav G; Arango-Gonzalez, Blanca B; Ueffing, Marius M; Paquet-Durand, François F

Publication Date: 2022

Variant appearance in text: RHO: P23H

PubMed Link: 35873807

Variant Present in the following documents:

• fnins-16-938089.pdf

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Induction of Autophagy Promotes Clearance of RHOP23H Aggregates and Protects From Retinal Degeneration.

Frontiers In Aging Neuroscience

Intartaglia, Daniela D; Giamundo, Giuliana G; Naso, Federica F; Nusco, Edoardo E; Di Giulio, Simona S; Salierno, Francesco Giuseppe FG; Polishchuk, Elena E; Conte, Ivan I

Publication Date: 2022

Variant appearance in text: RHO: P23H

PubMed Link: 35847673

Variant Present in the following documents:

• Main text
• fnagi-14-878958.pdf

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Genetic dissection of non-syndromic retinitis pigmentosa.

Indian Journal Of Ophthalmology

Bhardwaj, Aarti A; Yadav, Anshu A; Yadav, Manoj M; Tanwar, Mukesh M

Publication Date: 2022-07

Variant appearance in text: RHO: P23H

PubMed Link: 35791117

Variant Present in the following documents:

• Main text
• IJO-70-2355.pdf

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CRISPR/Cas therapeutic strategies for autosomal dominant disorders.

The Journal Of Clinical Investigation

Caruso, Salvatore Marco SM; Quinn, Peter Mj PM; da Costa, Bruna Lopes BL; Tsang, Stephen H SH

Publication Date: 2022-05-02

Variant appearance in text: RHO: P23H

PubMed Link: 35499084

Variant Present in the following documents:

• jci-132-158287.pdf

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AAV-CRISPR/Cas9 Gene Editing Preserves Long-Term Vision in the P23H Rat Model of Autosomal Dominant Retinitis Pigmentosa.

Pharmaceutics

Shahin, Saba S; Xu, Hui H; Lu, Bin B; Mercado, Augustus A; Jones, Melissa K MK; Bakondi, Benjamin B; Wang, Shaomei S

Publication Date: 2022-04-09

Variant appearance in text: RHO: P23H

PubMed Link: 35456659

Variant Present in the following documents:

• Main text
• pharmaceutics-14-00824.pdf

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Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-oriented drug.

Stem Cell Research & Therapy

Rai, Dilip D; Iwanami, Masaki M; Takahashi, Yoriko Y; Komuta, Yukari Y; Aoi, Noriyuki N; Umezawa, Akihiro A; Seko, Yuko Y

Publication Date: 2022-04-11

Variant appearance in text: RHO: P23H

PubMed Link: 35410372

Variant Present in the following documents:

• Main text

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Cellular stress signaling and the unfolded protein response in retinal degeneration: mechanisms and therapeutic implications.

Molecular Neurodegeneration

McLaughlin, Todd T; Medina, Andy A; Perkins, Jacob J; Yera, Maria M; Wang, Joshua J JJ; Zhang, Sarah X SX

Publication Date: 2022-03-28

Variant appearance in text: RHO: P23H

PubMed Link: 35346303

Variant Present in the following documents:

• Main text
• 13024_2022_Article_528.pdf

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Gene editing and its applications in biomedicine.

Science China. Life Sciences

Li, Guanglei G; Li, Xiangyang X; Zhuang, Songkuan S; Wang, Liren L; Zhu, Yifan Y; Chen, Yangcan Y; Sun, Wen W; Wu, Zeguang Z; Zhou, Zhuo Z; Chen, Jia J; Huang, Xingxu X; Wang, Jin J; Li, Dali D; Li, Wei W; Wang, Haoyi H; Wei, Wensheng W

Publication Date: 2022-04

Variant appearance in text: RHO: P23H

PubMed Link: 35235150

Variant Present in the following documents:

• 11427_2021_Article_2057.pdf

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Gene therapy for retinitis pigmentosa.

Taiwan Journal Of Ophthalmology

Piri, Niloofar N; Grodsky, Jacob D JD; Kaplan, Henry J HJ

Publication Date: 2021

Variant appearance in text: RHO: P23H

PubMed Link: 35070662

Variant Present in the following documents:

• Main text

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Metabolic rescue of cone photoreceptors in retinitis pigmentosa.

Taiwan Journal Of Ophthalmology

Kaplan, Henry J HJ; Wang, Wei W; Piri, Niloofar N; Dean, Douglas C DC

Publication Date: 2021

Variant appearance in text: RHO: Pro23His

PubMed Link: 35070660

Variant Present in the following documents:

• Main text

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Innovations in retinitis pigmentosa - Metabolic rescue of cones, gene therapy, retinal transplantation.

Taiwan Journal Of Ophthalmology

Kaplan, Henry J HJ

Publication Date: 2021

Variant appearance in text: RHO: Pro23His

PubMed Link: 35070659

Variant Present in the following documents:

• Main text

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Update of application of olfactory ensheathing cells and stem cells/exosomes in the treatment of retinal disorders.

Stem Cell Research & Therapy

Yu, Yang Y; Li, Licheng L; Lin, Shu S; Hu, Jianmin J

Publication Date: 2022-01-10

Variant appearance in text: RHO: P23H

PubMed Link: 35012635

Variant Present in the following documents:

• Main text
• 13287_2021_Article_2685.pdf

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Update of application of olfactory ensheathing cells and stem cells/exosomes in the treatment of retinal disorders.

Stem Cell Research & Therapy

Yu, Yang Y; Li, Licheng L; Lin, Shu S; Hu, Jianmin J

Publication Date: 2022-01-10

Variant appearance in text: RHO: P23H

PubMed Link: 35012635

Variant Present in the following documents:

• Main text
• 13287_2021_Article_2685.pdf

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Emerging Lysosomal Functions for Photoreceptor Cell Homeostasis and Survival.

Cells

Santo, Manuela M; Conte, Ivan I

Publication Date: 2021-12-26

Variant appearance in text: RHO: P23H

PubMed Link: 35011622

Variant Present in the following documents:

• Main text

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Emerging Lysosomal Functions for Photoreceptor Cell Homeostasis and Survival.

Cells

Santo, Manuela M; Conte, Ivan I

Publication Date: 2021-12-26

Variant appearance in text: RHO: P23H

PubMed Link: 35011622

Variant Present in the following documents:

• Main text

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Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa.

Genes

Ballios, Brian G BG; Place, Emily M EM; Martinez-Velazquez, Luis L; Pierce, Eric A EA; Comander, Jason I JI; Huckfeldt, Rachel M RM

Publication Date: 2021-11-23

Variant appearance in text: RHO: Pro23His

PubMed Link: 34946802

Variant Present in the following documents:

• Main text

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Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa.

Genes

Ballios, Brian G BG; Place, Emily M EM; Martinez-Velazquez, Luis L; Pierce, Eric A EA; Comander, Jason I JI; Huckfeldt, Rachel M RM

Publication Date: 2021-11-23

Variant appearance in text: RHO: Pro23His

PubMed Link: 34946802

Variant Present in the following documents:

• Main text

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Importance of Autoimmune Responses in Progression of Retinal Degeneration Initiated by Gene Mutations.

Frontiers In Medicine

Adamus, Grazyna G

Publication Date: 2021

Variant appearance in text: RHO: P23H

PubMed Link: 34926479

Variant Present in the following documents:

• fmed-08-672444.pdf

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Structure network-based landscape of rhodopsin misfolding by mutations and algorithmic prediction of small chaperone action.

Computational And Structural Biotechnology Journal

Felline, Angelo A; Schiroli, Davide D; Comitato, Antonella A; Marigo, Valeria V; Fanelli, Francesca F

Publication Date: 2021

Variant appearance in text: RHO: P23H

PubMed Link: 34849206

Variant Present in the following documents:

• Main text

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Müller glial responses compensate for degenerating photoreceptors in retinitis pigmentosa.

Experimental & Molecular Medicine

Tomita, Yohei Y; Qiu, Chenxi C; Bull, Edward E; Allen, William W; Kotoda, Yumi Y; Talukdar, Saswata S; Smith, Lois E H LEH; Fu, Zhongjie Z

Publication Date: 2021-11

Variant appearance in text: RHO: P23H

PubMed Link: 34799683

Variant Present in the following documents:

• Main text
• 12276_2021_Article_693.pdf

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Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss.

Frontiers In Genome Editing

Botto, Catherine C; Dalkara, Deniz D; El-Amraoui, Aziz A

Publication Date: 2021

Variant appearance in text: RHO: P23H

PubMed Link: 34778871

Variant Present in the following documents:

• Main text

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The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.

International Journal Of Molecular Sciences

Martinez Velazquez, Luis A LA; Ballios, Brian G BG

Publication Date: 2021-10-26

Variant appearance in text: RHO: P23H

PubMed Link: 34768969

Variant Present in the following documents:

• Main text

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Outer Retinal Cell Replacement: Putting the Pieces Together.

Translational Vision Science & Technology

Ludwig, Allison L AL; Gamm, David M DM

Publication Date: 2021-08-12

Variant appearance in text: RHO: P23H

PubMed Link: 34724034

Variant Present in the following documents:

• Main text
• tvst-10-10-15.pdf

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Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.

Frontiers In Medicine

Amato, Alessia A; Arrigo, Alessandro A; Aragona, Emanuela E; Manitto, Maria Pia MP; Saladino, Andrea A; Bandello, Francesco F; Battaglia Parodi, Maurizio M

Publication Date: 2021

Variant appearance in text: RHO: P23H

PubMed Link: 34722588

Variant Present in the following documents:

• Main text

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Pharmacological Inhibition of the VCP/Proteasome Axis Rescues Photoreceptor Degeneration in RHOP23H Rat Retinal Explants.

Biomolecules

Sen, Merve M; Kutsyr, Oksana O; Cao, Bowen B; Bolz, Sylvia S; Arango-Gonzalez, Blanca B; Ueffing, Marius M

Publication Date: 2021-10-16

Variant appearance in text: RHO: P23H

PubMed Link: 34680161

Variant Present in the following documents:

• Main text

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Challenges Associated With Ellipsoid Zone Intensity Measurements Using Optical Coherence Tomography.

Translational Vision Science & Technology

Lee, Karen E KE; Heitkotter, Heather H; Carroll, Joseph J

Publication Date: 2021-10-04

Variant appearance in text: RHO: Pro23His

PubMed Link: 34665233

Variant Present in the following documents:

• Main text

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Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing.

Frontiers In Medicine

Hernández-Juárez, Jennifer J; Rodríguez-Uribe, Genaro G; Borooah, Shyamanga S

Publication Date: 2021

Variant appearance in text: RHO: 68C>A

PubMed Link: 34660621

Variant Present in the following documents:

• Main text
• fmed-08-698521.pdf

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Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Bmc Ophthalmology

Liu, Wei W; Guo, Ruru R; Hao, Huijie H; Ji, Jian J

Publication Date: 2021-10-11

Variant appearance in text: RHO: P23H

PubMed Link: 34635090

Variant Present in the following documents:

• Main text

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Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.

International Ophthalmology Clinics

Massengill, Michael T MT; Lewin, Alfred S AS

Publication Date: 2021-10-01

Variant appearance in text: RHO: P23H

PubMed Link: 34584046

Variant Present in the following documents:

• Main text

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