Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.D190G
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RHO

NM_000539.3:p.D190G

Associated Papers

A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin-Associated RP Models.

Loewen AD et al.

Investigative Ophthalmology & Visual Science, 2025

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration.

Massoudi D et al.

Investigative Ophthalmology & Visual Science, 2023

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

Zhen F et al.

Frontiers in Neuroscience, 2023

Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.

Roushar FJ et al.

The Journal of Biological Chemistry, 2022

35850308 (PubMed )
Supplement: mmc1.pdf

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S1_LOVD.xlsx › LOVD_2022-04-19

Neuroinflammation as a Therapeutic Target in Retinitis Pigmentosa and Quercetin as Its Potential Modulator.

Ortega JT et al.

Pharmaceutics, 2021

Structural aspects of rod opsin and their implication in genetic diseases.

Fanelli F et al.

Pflugers Archiv : European Journal of Physiology, 2021

ATF6 is required for efficient rhodopsin clearance and retinal homeostasis in the P23H rho retinitis pigmentosa mouse model.

Lee EJ et al.

Scientific Reports, 2021

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

Patrizi C et al.

American Journal of Human Genetics, 2021

33508235 (PubMed )
Supplement: mmc3.xlsx › 57_variants_of_RHO_asso_to_RP4

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

Felline A et al.

Computational and Structural Biotechnology Journal, 2021

34849206 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.

Meng D et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020

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

Wan A et al.

Human Mutation, 2019

30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1

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

Coussa RG et al.

Molecular Vision, 2019

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

Behnen P et al.

Iscience, 2018

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

Athanasiou D et al.

Progress in Retinal and Eye Research, 2018

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

Froebel BR et al.

Investigative Ophthalmology & Visual Science, 2017

Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.

McKeone R et al.

Molecular Vision, 2014

The effects of IRE1, ATF6, and PERK signaling on adRP-linked rhodopsins.

Jerry Chiang WC et al.

Advances in Experimental Medicine and Biology, 2014

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

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulation.

Chiang WC et al.

Investigative Ophthalmology & Visual Science, 2012

IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin.

Chiang WC et al.

Molecular Biology of the Cell, 2012

Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.

Krebs MP et al.

Journal of Molecular Biology, 2010

Computational Screening of Rhodopsin Mutations Associated with Retinitis Pigmentosa.

Felline A et al.

Journal of Chemical Theory and Computation, 2009

[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].

Wang DY et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005

Gene mutations in retinitis pigmentosa and their clinical implications.

Wang DY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations.

Cideciyan AV

Methods in Enzymology, 2000

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

Cideciyan AV et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa.

Kaushal S et al.

Biochemistry, 1994

Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.

Dryja TP

Eye (london, England), 1992

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Dryja TP et al.

Proceedings of the National Academy of Sciences of the United States of America, 1991

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

Sung CH et al.

Proceedings of the National Academy of Sciences of the United States of America, 1991

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Sung CH et al.

Proceedings of the National Academy of Sciences of the United States of America, 1991

[Molecular-genetic basis of tapetoretinal degeneration].

Dzhemileva LU et al.

Molekuliarnaia Biologiia, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."