Research graph
References from Unraveling RP1 -Associated Retinal Dystrophies: Comprehensive Genetic, Clinical, and Disease Progression Analysis in China. Local targets link to admitted publications; unresolved targets remain external evidence.
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
10.1038/10305 · 1999 · External reference
Genetic and clinical findings in a large cohort of Chinese patients with suspected retinitis pigmentosa
10.1016/j.ophtha.2019.04.038 · 2019 · External reference
Retinitis pigmentosa
10.1016/s0140-6736(06)69740-7 · 2006 · External reference
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)
2001 · External reference
RP1 protein truncating mutations predominate at the RP1 adRP locus
2000 · External reference
RP1 is required for the correct stacking of outer segment discs
10.1167/iovs.03-0410 · 2003 · External reference
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein
10.1523/jneurosci.1335-04.2004 · 2004 · External reference
The location of exon 4 mutations in RP1 raises challenges for genetic counseling and gene therapy
10.1016/j.ajo.2019.01.027 · 2019 · External reference
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping
2022 · External reference
Macular dystrophy and cone-rod dystrophy caused by mutations in the RP1 gene: extending the RP1 disease spectrum
10.1167/iovs.18-26084 · 2019 · External reference
Biallelic RP1-associated retinal dystrophies: expanding the mutational and clinical spectrum
2020 · External reference
Patients with retinitis pigmentosa due to RP1 mutations show greater severity in recessive than in dominant cases
2011 · External reference
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
2012 · External reference
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
10.1136/jmg.2004.024281 · 2005 · External reference
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
10.1136/jmg.2004.024281 · 2005 · External reference
Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa
10.3129/i08-004 · 2008 · External reference
RP1 in Chinese: eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa
10.1002/humu.1127 · 2001 · External reference
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
10.1038/s41598-018-22096-0 · 2018 · External reference
EYS-associated sector retinitis pigmentosa
10.1007/s00417-021-05411-w · 2022 · External reference
Natural course of visual field loss in patients with type 2 Usher syndrome
10.1097/01.iae.0000246675.88911.2c · 2007 · External reference
Development of the 25-item National Eye Institute Visual Function Questionnaire
10.1001/archopht.119.7.1050 · 2001 · External reference
Validation of the National Eye Institute Visual Function Questionnaire-25 (NEI VFQ-25) in age-related macular degeneration
10.1167/iovs.10-5645 · 2011 · External reference
Global prevalence of vision impairment and blindness: magnitude and temporal trends, 1990–2010
10.1016/j.ophtha.2013.05.025 · 2013 · External reference
The natural history of inherited retinal dystrophy due to biallelic mutations in the RPE65 gene
10.1016/j.ajo.2018.09.024 · 2019 · External reference
ISCEV and IPS guideline for the full-field stimulus test (FST)
10.1007/s10633-023-09962-7 · 2024 · External reference
Evaluating the usefulness of MP-3 microperimetry in glaucoma patients
10.1016/j.ajo.2017.12.002 · 2018 · External reference
Quantification of ellipsoid zone changes in retinitis pigmentosa using en face spectral domain-optical coherence tomography
10.1001/jamaophthalmol.2016.0502 · 2016 · External reference
Macular edema. A complication of diabetic retinopathy
10.1016/0039-6257(84)90227-3 · 1984 · External reference
Internal limiting membrane peeling versus no peeling for idiopathic full-thickness macular hole: a pragmatic randomized controlled trial
10.1167/iovs.10-6287 · 2011 · External reference
Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa
10.1097/iae.0b013e318206d155 · 2011 · External reference
Correlation of lines of increased autofluorescence in macular dystrophy and pigmented paravenous retinochoroidal atrophy by optical coherence tomography
10.1001/archopht.126.10.1461 · 2008 · External reference
Association between abnormal autofluorescence and photoreceptor disorganization in retinitis pigmentosa
10.1016/j.ajo.2007.11.018 · 2008 · External reference
Wide-field fundus autofluorescence imaging of retinitis pigmentosa
10.1016/j.ophtha.2013.01.050 · 2013 · External reference
Wide-field fundus autofluorescence imaging to evaluate retinal function in patients with retinitis pigmentosa
10.1016/j.ajo.2014.07.021 · 2014 · External reference
Hyperautofluorescent ring pattern in retinitis pigmentosa: Clinical implications and modifications over time
10.1167/iovs.64.12.8 · 2023 · External reference
Dominant RP in the middle while recessive in both the N- and C-terminals due to RP1 truncations: confirmation, refinement, and questions
10.3389/fcell.2021.634478 · 2021 · External reference
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
10.1136/jmg.2004.024281 · 2005 · External reference
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa
10.1093/hmg/8.11.2121 · 1999 · External reference
Genotype-phenotype correlations in RP1-associated retinal dystrophies: a multi-center cohort study in Japan
10.3390/jcm10112265 · 2021 · External reference
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis
10.1016/j.ophtha.2012.06.033 · 2012 · External reference
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa
10.1167/iovs.09-4437 · 2010 · External reference
Unilateral retinitis pigmentosa and cone-rod dystrophy
10.2147/opth.s5130 · 2009 · External reference
Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene
10.1001/archophthalmol.2011.171 · 2011 · External reference
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia
10.1136/bjophthalmol-2014-306224 · 2015 · External reference
