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: K296E

PubMed Link: 37077319

Variant Present in the following documents:

• Main text
• fnins-17-1132179.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: 886A>G; Lys296Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: RHO: 886A>G; Lys296Glu

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

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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: K296E

PubMed Link: 34199888

Variant Present in the following documents:

• Main text
• molecules-26-03407.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: K296E

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: 886A>G; Lys296Glu; rs29001653

PubMed Link: 33508235

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: RHO: 886A>G; Lys296Glu

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: CSNBAD1: K296E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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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: 886A>G; Lys296Glu

PubMed Link: 30977563

Variant Present in the following documents:

• Main text
• HUMU-40-1127-s002.xlsx, sheet 1
• HUMU-40-1127.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: Lys296Glu

PubMed Link: 28715844

Variant Present in the following documents:

• iovs-58-05-25_s02.pdf

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: RHO: 886A>G; Lys296Glu

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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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: RHO: K296E; rs29001653

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: K296E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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: K296E

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Gene therapy for retinal disease.

Translational Research : The Journal Of Laboratory And Clinical Medicine

McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2013-04

Variant appearance in text: RHO: K296E

PubMed Link: 23305707

Variant Present in the following documents:

• Main text

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Domain altering SNPs in the human proteome and their impact on signaling pathways.

Plos One

Liu, Yichuan Y; Tozeren, Aydin A

Publication Date: 2010-09-23

Variant appearance in text: rs29001653

PubMed Link: 20886114

Variant Present in the following documents:

• Main text
• pone.0012890.pdf

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PhenoHM: human-mouse comparative phenome-genome server.

Nucleic Acids Research

Sardana, Divya D; Vasa, Suresh S; Vepachedu, Nishanth N; Chen, Jing J; Gudivada, Ranga Chandra RC; Aronow, Bruce J BJ; Jegga, Anil G AG

Publication Date: 2010-07

Variant appearance in text: RHO: LYS296GLU

PubMed Link: 20507906

Variant Present in the following documents:

• Main text
• gkq472.pdf

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Bottlenecks in development of retinal therapeutic post-transcriptional gene silencing agents.

Vision Research

Sullivan, Jack M JM; Yau, Edwin H EH; Taggart, R Thomas RT; Butler, Mark C MC; Kolniak, Tiffany A TA

Publication Date: 2008-02

Variant appearance in text: RHO: K296E

PubMed Link: 17976683

Variant Present in the following documents:

• Main text

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Light and inherited retinal degeneration.

The British Journal Of Ophthalmology

Paskowitz, D M DM; LaVail, M M MM; Duncan, J L JL

Publication Date: 2006-08

Variant appearance in text: RHO: K296E

PubMed Link: 16707518

Variant Present in the following documents:

• Main text

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Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

The British Journal Of Ophthalmology

Schuster, A A; Weisschuh, N N; Jägle, H H; Besch, D D; Janecke, A R AR; Zierler, H H; Tippmann, S S; Zrenner, E E; Wissinger, B B

Publication Date: 2005-10

Variant appearance in text: RHO: Lys296Glu

PubMed Link: 16170112

Variant Present in the following documents:

• Main text

View BVdb publication page

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