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: T58M

PubMed Link: 37077319

Variant Present in the following documents:

• Main text

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: RHO: T58M

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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: Thr58Met

PubMed Link: 31908405

Variant Present in the following documents:

• Main text
• mv-v25-869.pdf

View BVdb publication page

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Common activation mechanism of class A GPCRs.

Elife

Zhou, Qingtong Q; Yang, Dehua D; Wu, Meng M; Guo, Yu Y; Guo, Wanjing W; Zhong, Li L; Cai, Xiaoqing X; Dai, Antao A; Jang, Wonjo W; Shakhnovich, Eugene I EI; Liu, Zhi-Jie ZJ; Stevens, Raymond C RC; Lambert, Nevin A NA; Babu, M Madan MM; Wang, Ming-Wei MW; Zhao, Suwen S

Publication Date: 2019-12-19

Variant appearance in text: RP4: T58M

PubMed Link: 31855179

Variant Present in the following documents:

• elife-50279-fig1-data2.xlsx, sheet 3

View BVdb publication page

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Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Oncogene

Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB

Publication Date: 2019-09

Variant appearance in text: RHO: T58M

PubMed Link: 31337866

Variant Present in the following documents:

• 41388_2019_895_MOESM2_ESM.xlsx, sheet 11

View BVdb publication page

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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>T; Thr58Met

PubMed Link: 30977563

Variant Present in the following documents:

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

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: T58M

PubMed Link: 30390055

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Thr58Met

PubMed Link: 28715844

Variant Present in the following documents:

• iovs-58-05-25_s02.pdf

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: RHO: T58M

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: RHO: T58M

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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