Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N55K
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RHO

NM_000539.3:p.N55K

Associated Papers

Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.

Pennesi ME et al.

American Journal of Ophthalmology, 2026

Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.

Hang C et al.

American Journal of Ophthalmology, 2025

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

Longitudinal Changes in Optoretinography Provide an Early and Sensitive Biomarker of Outer Retinal Disease.

Liu T et al.

American Journal of Ophthalmology, 2025

In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.

Hu S et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Longitudinal changes in optoretinography provide an early and sensitive biomarker of outer retinal disease.

Liu T et al.

Medrxiv : the Preprint Server for Health Sciences, 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

Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin.

Scott BM et al.

Journal of Molecular Evolution, 2024

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.

Jung YH et al.

Frontiers in Genetics, 2023

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

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Maltese PE et al.

Frontiers in Genetics, 2022

35836572 (PubMed )
Supplement: Table1.xlsx › Table_S4_Europe

Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.

Narasimhan I et al.

European Journal of Ophthalmology, 2021

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

Georgiou M et al.

American Journal of Ophthalmology, 2021

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

Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

Scott BM et al.

Genetics, 2019

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

Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin.

Srinivasan S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

Docosahexaenoic acid phospholipid differentially modulates the conformation of G90V and N55K rhodopsin mutants associated with retinitis pigmentosa.

Dong X et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Phospholipid Bicelles Improve the Conformational Stability of Rhodopsin Mutants Associated with Retinitis Pigmentosa.

Dong X et al.

Biochemistry, 2015

Differential light-induced responses in sectorial inherited retinal degeneration.

Ramon E et al.

The Journal of Biological Chemistry, 2014

Versatility and differential roles of cysteine residues in human prostacyclin receptor structure and function.

Stitham J et al.

The Journal of Biological Chemistry, 2006

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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."