Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P347Q
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RHO

NM_000539.3:p.P347Q

Associated Papers

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

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

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Liu W et al.

Bmc Ophthalmology, 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

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.

Xiao T et al.

Frontiers in Cell and Developmental Biology, 2020

33598457 (PubMed )
Supplement: Data_Sheet_1.XLSX › sheet_1

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 caused by mutations of the RHO gene.

Xiao T et al.

Eye (london, England), 2019

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

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

Beryozkin A et al.

Investigative Ophthalmology & Visual Science, 2016

Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.

Anasagasti A et al.

Experimental Eye Research, 2013

Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.

Pan Z et al.

Molecular Vision, 2012

Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.

Rakoczy EP et al.

Journal of Molecular Biology, 2011

In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.

Mokarzel-Falcón L et al.

Proteins, 2008

A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity.

Deretic D

Vision Research, 2006

[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

Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23.

Oh KT et al.

American Journal of Ophthalmology, 2003

Rhodopsin trafficking and its role in retinal dystrophies.

Sung CH et al.

International Review of Cytology, 2000

Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA.

Deretic D 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

[Molecular-genetic basis of tapetoretinal degeneration].

Dzhemileva LU et al.

Molekuliarnaia Biologiia, 0

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