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: P347R

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: 1040C>G; Pro347Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: RHO: 1040C>G; Pro347Arg

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: RHO: 1040C>G; Pro347Arg

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: Pro347Arg

PubMed Link: 34635090

Variant Present in the following documents:

• Main text
• 12886_2021_Article_2125.pdf

View BVdb publication page

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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: N/A

PubMed Link: 33508235

Variant Present in the following documents:

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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: 1040C>G; Pro347Arg

PubMed Link: 30977563

Variant Present in the following documents:

• HUMU-40-1127-s002.xlsx, sheet 1

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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: Pro347Arg

PubMed Link: 28715844

Variant Present in the following documents:

• Main text
• i1552-5783-58-9-3576.pdf
• 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: RP4: P347R

PubMed Link: 27905547

Variant Present in the following documents:

• srep37298-s1.pdf

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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

Investigative Ophthalmology & Visual Science

Beryozkin, Avigail A; Levy, Gal G; Blumenfeld, Anat A; Meyer, Segev S; Namburi, Prasanthi P; Morad, Yair Y; Gradstein, Libe L; Swaroop, Anand A; Banin, Eyal E; Sharon, Dror D

Publication Date: 2016-03

Variant appearance in text: RHO: 1040C>G; Pro347Arg

PubMed Link: 26962691

Variant Present in the following documents:

• i1552-5783-57-3-940.pdf

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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: N/A

PubMed Link: 26659599

Variant Present in the following documents:

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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: P347R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.

International Journal Of Ophthalmology

Ma, Li L; Sheng, Xun-Lun XL; Li, Hui-Ping HP; Zhang, Fang-Xia FX; Liu, Ya-Ni YN; Rong, Wei-Ning WN; Zhang, Jian-Ling JL

Publication Date: 2013

Variant appearance in text: RHO: P347R

PubMed Link: 23991373

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: 1040C>G; Pro347Arg

PubMed Link: 23950152

Variant Present in the following documents:

• Main text

View BVdb publication page

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