Publications:

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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: T58R

PubMed Link: 37077319

Variant Present in the following documents:

• Main text

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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: 173C>G; Thr58Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: T58R

PubMed Link: 34849206

Variant Present in the following documents:

• Main text
• main.pdf

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Polyphenols and Visual Health: Potential Effects on Degenerative Retinal Diseases.

Molecules (Basel, Switzerland)

Fernandez-Gonzalez, Pol P; Mas-Sanchez, Aina A; Garriga, Pere P

Publication Date: 2021-06-04

Variant appearance in text: RHO: T58R

PubMed Link: 34199888

Variant Present in the following documents:

• Main text
• molecules-26-03407.pdf

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Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation.

Case Reports In Genetics

Ruppert, Misty M; Pyun, John J; Chalam, K V KV; Sierpina, David D

Publication Date: 2020

Variant appearance in text: RHO: 173C>G; Thr58Arg

PubMed Link: 33777460

Variant Present in the following documents:

• CRIG2020-8860863.pdf

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Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.

International Journal Of Molecular Sciences

Kobal, Nina N; Krašovec, Tjaša T; Šuštar, Maja M; Volk, Marija M; Peterlin, Borut B; Hawlina, Marko M; Fakin, Ana A

Publication Date: 2021-02-21

Variant appearance in text: RHO: Thr58Arg

PubMed Link: 33669941

Variant Present in the following documents:

• Main text
• ijms-22-02133.pdf

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Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.

American Journal Of Human Genetics

Patrizi, Clarissa C; Llado, Manel M; Benati, Daniela D; Iodice, Carolina C; Marrocco, Elena E; Guarascio, Rosellina R; Surace, Enrico M EM; Cheetham, Michael E ME; Auricchio, Alberto A; Recchia, Alessandra A

Publication Date: 2021-02-04

Variant appearance in text: RHO: 173C>G; Thr58Arg; rs28933394

PubMed Link: 33508235

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Meng, Da D; Ragi, Sara D SD; Tsang, Stephen H SH

Publication Date: 2020-10-07

Variant appearance in text: RHO: T58R

PubMed Link: 32882181

Variant Present in the following documents:

• Main text

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Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.

American Journal Of Ophthalmology

Georgiou, Michalis M; Grewal, Parampal S PS; Narayan, Akshay A; Alser, Muath M; Ali, Naser N; Fujinami, Kaoru K; Webster, Andrew R AR; Michaelides, Michel M

Publication Date: 2021-01

Variant appearance in text: RHO: Thr58Arg

PubMed Link: 32795431

Variant Present in the following documents:

• Main text
• main.pdf

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: RHO: 173C>G; Thr58Arg

PubMed Link: 32483926

Variant Present in the following documents:

• AOS-98-e1034-s006.xlsx, sheet 1

View BVdb publication page

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: RHO: 173C>G; Thr58Arg

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Sector retinitis pigmentosa: Report of ten cases and a review of the literature.

Molecular Vision

Coussa, Razek Georges RG; Basali, Diana D; Maeda, Akiko A; DeBenedictis, Meghan M; Traboulsi, Elias I EI

Publication Date: 2019

Variant appearance in text: RHO: Thr58Arg

PubMed Link: 31908405

Variant Present in the following documents:

• Main text

View BVdb publication page

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Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials.

International Journal Of Molecular Sciences

Sumaroka, Alexander A; Cideciyan, Artur V AV; Charng, Jason J; Wu, Vivian V; Powers, Christian A CA; Iyer, Bhavya S BS; Lisi, Brianna B; Swider, Malgorzata M; Jacobson, Samuel G SG

Publication Date: 2019-10-27

Variant appearance in text: RHO: T58R

PubMed Link: 31717845

Variant Present in the following documents:

• Main text
• ijms-20-05344.pdf

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Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Human Mutation

Wan, Aliete A; Place, Emily E; Pierce, Eric A EA; Comander, Jason J

Publication Date: 2019-08

Variant appearance in text: RHO: 173C>G; T58R

PubMed Link: 30977563

Variant Present in the following documents:

• Main text
• HUMU-40-1127-s002.xlsx, sheet 1
• HUMU-40-1127.pdf

View BVdb publication page

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Sector Retinitis Pigmentosa caused by mutations of the RHO gene.

Eye (London, England)

Xiao, Ting T; Xu, Ke K; Zhang, Xiaohui X; Xie, Yue Y; Li, Yang Y

Publication Date: 2019-04

Variant appearance in text: RHO: T58R

PubMed Link: 30390055

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.

Iscience

Behnen, Petra P; Felline, Angelo A; Comitato, Antonella A; Di Salvo, Maria Teresa MT; Raimondi, Francesco F; Gulati, Sahil S; Kahremany, Shirin S; Palczewski, Krzysztof K; Marigo, Valeria V; Fanelli, Francesca F

Publication Date: 2018-06-29

Variant appearance in text: RHO: T58R

PubMed Link: 30240733

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.

Progress In Retinal And Eye Research

Athanasiou, Dimitra D; Aguila, Monica M; Bellingham, James J; Li, Wenwen W; McCulley, Caroline C; Reeves, Philip J PJ; Cheetham, Michael E ME

Publication Date: 2018-01

Variant appearance in text: RHO: T58R

PubMed Link: 29042326

Variant Present in the following documents:

• Main text

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The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Genes

Comander, Jason J; Weigel-DiFranco, Carol C; Maher, Matthew M; Place, Emily E; Wan, Aliete A; Harper, Shyana S; Sandberg, Michael A MA; Navarro-Gomez, Daniel D; Pierce, Eric A EA

Publication Date: 2017-10-05

Variant appearance in text: RHO: 173C>G; Thr58Arg

PubMed Link: 28981474

Variant Present in the following documents:

• Main text
• genes-08-00256-s001.xlsx, sheet 1
• genes-08-00256.pdf

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Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme.

Investigative Ophthalmology & Visual Science

Froebel, Beau R BR; Trujillo, Alexandria J AJ; Sullivan, Jack M JM

Publication Date: 2017-07-01

Variant appearance in text: RHO: Thr58Arg

PubMed Link: 28715844

Variant Present in the following documents:

• iovs-58-05-25_s02.pdf

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In silico Mapping of Protein Unfolding Mutations for Inherited Disease.

Scientific Reports

McCafferty, Caitlyn L CL; Sergeev, Yuri V YV

Publication Date: 2016-12-01

Variant appearance in text: RHO: T58R

PubMed Link: 27905547

Variant Present in the following documents:

• srep37298-s1.pdf
• srep37298.pdf

View BVdb publication page

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Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.

Investigative Ophthalmology & Visual Science

Jacobson, Samuel G SG; McGuigan, David B DB; Sumaroka, Alexander A; Roman, Alejandro J AJ; Gruzensky, Michaela L ML; Sheplock, Rebecca R; Palma, Judy J; Schwartz, Sharon B SB; Aleman, Tomas S TS; Cideciyan, Artur V AV

Publication Date: 2016-09-01

Variant appearance in text: RHO: T58R

PubMed Link: 27654411

Variant Present in the following documents:

• Main text
• i1552-5783-57-11-4847.pdf

View BVdb publication page

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Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science

Sun, Lynn W LW; Johnson, Ryan D RD; Langlo, Christopher S CS; Cooper, Robert F RF; Razeen, Moataz M MM; Russillo, Madia C MC; Dubra, Alfredo A; Connor, Thomas B TB; Han, Dennis P DP; Pennesi, Mark E ME; Kay, Christine N CN; Weinberg, David V DV; Stepien, Kimberly E KE; Carroll, Joseph J

Publication Date: 2016-05-01

Variant appearance in text: RHO: 173C>G; Thr58Arg

PubMed Link: 27145477

Variant Present in the following documents:

• i1552-5783-57-6-2428.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: RP4: T58R; rs28933394

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

Investigative Ophthalmology & Visual Science

Matsui, Rodrigo R; Cideciyan, Artur V AV; Schwartz, Sharon B SB; Sumaroka, Alexander A; Roman, Alejandro J AJ; Swider, Malgorzata M; Huang, Wei Chieh WC; Sheplock, Rebecca R; Jacobson, Samuel G SG

Publication Date: 2015-09

Variant appearance in text: RHO: T58R

PubMed Link: 26393467

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RHO: T58R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

Journal Of Ophthalmology

Katagiri, Satoshi S; Hayashi, Takaaki T; Akahori, Masakazu M; Itabashi, Takeshi T; Nishino, Jo J; Yoshitake, Kazutoshi K; Furuno, Masaaki M; Ikeo, Kazuho K; Okada, Tetsuji T; Tsuneoka, Hiroshi H; Iwata, Takeshi T

Publication Date: 2014

Variant appearance in text: RHO: T58R

PubMed Link: 25485142

Variant Present in the following documents:

• Main text
• JOPH2014-210947.pdf

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Differential light-induced responses in sectorial inherited retinal degeneration.

The Journal Of Biological Chemistry

Ramon, Eva E; Cordomí, Arnau A; Aguilà, Mònica M; Srinivasan, Sundaramoorthy S; Dong, Xiaoyun X; Moore, Anthony T AT; Webster, Andrew R AR; Cheetham, Michael E ME; Garriga, Pere P

Publication Date: 2014-12-26

Variant appearance in text: RHO: T58R

PubMed Link: 25359768

Variant Present in the following documents:

• Main text

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Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Investigative Ophthalmology & Visual Science

Sullivan, Lori S LS; Bowne, Sara J SJ; Reeves, Melissa J MJ; Blain, Delphine D; Goetz, Kerry K; Ndifor, Vida V; Vitez, Sally S; Wang, Xinjing X; Tumminia, Santa J SJ; Daiger, Stephen P SP

Publication Date: 2013-09-19

Variant appearance in text: RHO: 173C>G; Thr58Arg

PubMed Link: 23950152

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RHO: T58R

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy.

Experimental Eye Research

Abdelmaksoud, Heba E HE; Yau, Edwin H EH; Zuker, Michael M; Sullivan, Jack M JM

Publication Date: 2009-05

Variant appearance in text: RHO: T58R

PubMed Link: 19094986

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Investigative Ophthalmology & Visual Science

Sullivan, Lori S LS; Bowne, Sara J SJ; Birch, David G DG; Hughbanks-Wheaton, Dianna D; Heckenlively, John R JR; Lewis, Richard Alan RA; Garcia, Charles A CA; Ruiz, Richard S RS; Blanton, Susan H SH; Northrup, Hope H; Gire, Anisa I AI; Seaman, Robyn R; Duzkale, Hatice H; Spellicy, Catherine J CJ; Zhu, Jingya J; Shankar, Suma P SP; Daiger, Stephen P SP

Publication Date: 2006-07

Variant appearance in text: RHO: Thr58Arg

PubMed Link: 16799052

Variant Present in the following documents:

• Main text

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