Property Summary

NCBI Gene PubMed Count 115
PubMed Score 248.82
PubTator Score 280.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count P-value
non-small cell lung cancer 2798 2.0e-19
lung adenocarcinoma 2714 3.6e-17
pituitary cancer 1972 1.5e-08
tuberculosis 1563 4.0e-08
osteosarcoma 7933 4.8e-06
Breast cancer 3098 2.5e-05
psoriasis 6685 5.8e-05
lung cancer 4473 1.9e-04
ependymoma 2514 7.1e-03
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Primary ciliary dyskinesia 75 0.0 5.0

Expression

  Differential Expression (9)

Disease log2 FC p
ependymoma 2.400 7.1e-03
psoriasis -2.000 5.8e-05
osteosarcoma -2.878 4.8e-06
tuberculosis -1.600 4.0e-08
non-small cell lung cancer -1.316 2.0e-19
lung cancer -2.200 1.9e-04
lung adenocarcinoma -1.200 3.6e-17
Breast cancer -1.300 2.5e-05
pituitary cancer -3.000 1.5e-08

Pathway (1)

Gene RIF (76)

PMID Text
26431479 The regulator of chromosome condensation 1-like domain of RPGR was conserved in vertebrates and invertebrates, but RPGR(ORF15) was unique to vertebrates.
25569437 Coverage-based analysis indicated that the RPGR open reading frame (ORF)15 was located in an uncovered or low-depth region. Through additional screening of ORF15, we identified pathogenic mutations in 14% (7/50) of patients.
25556114 The edge of the ellipsoid zone in each patient with X-linked retinitis pigmentosa indicates a transition zone between relatively healthy and relatively degenerate retina.
25352739 Severe retinal degeneration is found in a Czech family women with a c.2543del mutation in ORF15 of the RPGR gene.
25301933 X-linked retinitis pigmentosa caused by mutations in the RPGR gene is a severe and early onset form of retinal degeneration. [review]
24664734 We will summarize the functional characterization of RPGR and highlight recent studies in animal models, which will not only shed light on the disease mechanisms in X linked retinitis pigmentosa but will also provide therapeutic strategies for treatment.
24555744 Profound visual loss occurred by the second decade of life with progression to near no light perception by age 60 in this kindred of X-linked RP associated with the RPGR genotype.
24489377 A novel RPGR gene was found in a retinal dystrophy patient in a family with Stargardt disease.
24454928 RPGR mutations associated with X-linked retinitis pigmentosa.
24428633 Although carriers of XLRP are usually asymptomatic or have a mild disease of late onset, the proband presented here exhibited an early-onset, aggressive form of the disease.
23681342 While visual acuity and electroretinography phenotypes are concordant in only some patients carrying identical mutations, assessment of phenotypes revealed stronger phenotypic conservation.
23559067 RPGR is acting as a scaffold protein recruiting cargo-loaded PDE6D and Arl3 to release lipidated cargo into cilia.
23372056 Mutations in RPGR are one of the most common causes of all forms of retinitis pigmentosa.
23150612 Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration.
22888088 Mutations in RPGR were found in two patients and relatives with primary ciliary dyskinesia and retinitis pigmentosa. Reduced ciliary orientation and coordination of ciliary bundles suggest RPGR may play a role in respiratory cilia orientation.
22577079 the human RPGR proximal promoter region in which a 3-kb fragment contained sufficient regulatory elements to control RPGR expression in mouse retina and other tissues.
22183348 Genetic variation of RPGRIP1L and IQCB1 may affect severity in RPGR mutation X-linked retinitis pigmentosa.
21933838 The function of RPGR was analysed by RNA interference-mediated translational suppression.
21914266 This novel mutation in RPGR ORF15 causes serious retinitis pigmentosa phenotype in males and no RP phenotype in female carriers.
21866333 Expression of RPGR mutations in this particular region appears to be relatively homogeneous and predisposed to cones.
21857984 Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations.
21683121 a micro-deletion through prenatal genetic diagnosis and another novel nonsense mutation in RPGR-ORF15.
21227725 a novel deletion mutation in the retinitis pigmentosa GTPase regulator gene, gORF15+556delA, in a Han Chinese family with retinitis pigmentosa
21174525 Mutations in the RPGR gene lead to X-linked Retinitis pigmentosa (XLRP), one of the most severe and early onset forms of RP. Gene therapy is considered a potential therapeutic option and is currently under investigation.
20806050 The novel mutation in RPGR ORF15 causes a serious retinitis pigmentosa phenotype in males and noretinitis pigmentosa phenotype in female carriers.
20801516 Observational study of genetic testing. (HuGE Navigator)
20631154 RPGR modulates intracellular localization and function of RAB8A.
20591486 Observational study of genetic testing. (HuGE Navigator)
20574030 Differentially expressed genes were identified in mutant retinas. At 7 and 16 weeks, a combination of nonclassic anti- and proapoptosis genes and mitochondria-related genes appear to be involved in photoreceptor degeneration.
20238008 Recent advances on understanding the role of RPGR in photoreceptor protein trafficking, are summarized.
20090203 Studies highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases.
20064120 The pedigree we have investigated here represents the first Czech family with an identified molecular genetic cause of retinitis pigmentosa
20021257 Our results expand the frequency and spectrum of mutations at RPGR and RP2 as well as their associated clinical phenotypes in Chinese patients.
19834030 These findings show that splicing of RPGR is precisely regulated in a tissue-dependent fashion and suggest that mutations in RPGR frequently interfere with the expression of alternative transcript isoforms.
19815619 RPGR is involved in cilia-dependent cascades during development in zebrafish.
19460752 Knockdown of retinitis pigmentosa GTPase regulator (RPGR) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
19429592 Four different RPGR ORF15 mutations were found in four probands and all mutations in the ORF15 exon resulted in premature truncation of the RPGR protein.
19218993 This novel mutation in RPGRcauses X-Linked RP with complete penetrance in males and females and affected females are highly myopic but retain better visual function than affected males.
18332319 An identical mutation in RPGR-ORF15 manifested distinct clinical phenotypes in individuals of the same family.
18188948 Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene is reported.
17923551 We identified a novel mutation in the 3' end of a highly repetitive region of exon open reading frame 15 (ORF15) and documented the detailed phenotypes of the patients with XLRP with the mutation.
17898302 Inner retinal laminar abnormalities in RPGR-XLRP are likely to reflect a neuronal-glial retinal remodeling response to photoreceptor loss and are detectable relatively early in the disease course.
17893654 Associated with retinitis pigmentosa in all hemizygous males and four of five heterozygous female carriers in Chinese family. These results revealed broader xlRP genotypic and phenotypic spectrum of RPGR mutations.
17724181 The proportion of RP2-mediated XLRP in the Danish population is higher and the proportion of RPGR-ORF15 is lower than reported in other studies.
17480003 These results indicate that an additional gene (or genes), linked to RPGR, modulate disease expression in severely affected carriers.
17405150 The nucleotide substitution affects regulated alternative splicing of the novel RPGR isoform and suggests a tight adjustment of splicing as a prerequisite for proper function of photoreceptors.
17325176 Observational study of gene-disease association. (HuGE Navigator)
17325176 Patients with X-linked retinitis pigmentosa due to RPGR mutations lose visual acuity and visual field more rapidly than do patients with dominant retinitis pigmentosa due to RHO mutations.
17249551 the ORF15 and RCC1-like domain of RPGR play a crucial role in the human retina
17195164 All disease-causing mutations occur in one or more RPGR isoforms containing the carboxyl-terminal exon open reading frame 15 (ORF15), which are widely expressed but show their highest expression in the connecting cilia of rod and cone photoreceptors.
17093403 Three ORF15 mutations and one RP2 mutation in five Japanese retinitis pigmentosa families.
16969763 Observational study of genotype prevalence. (HuGE Navigator)
16969763 26 new mutations in RP2 and RPGR patients with X-linked Retinitis Pigmentosa.
16936086 In this cohort of XLRP families, as has happened in previous studies, RP3 also seems to be the most prevalent form of XLRP, and, based on the results, the authors propose a four-step protocol for molecular diagnosis of XLRP families.
16935610 A defect in trafficking of opsins to outer segments exists in a carrier with the RPGR Gly436Asp mutation.
16917484 We describe a novel PRPF31 mutation and present the first case of a homozygous mutation in the RPGR gene in a female individual.
16387007 This report expands the clinical heterogeneity spectrum caused by RPGR mutations and our knowledge concerning the molecular pathologic condition that pertains to Coats'-like RP.
16273303 Observational study of gene-disease association. (HuGE Navigator)
16273303 the mutational risk in the RPGR gene appears not to be altered by the haplotype background
16086276 Finding expands the spectrum of RPGR mutations causing X-linked dominant retinitis pigmentosa in Chinese family and is useful for further genetic consultation and genetic diagnosis.
16052169 This 30 kb deletion contains the exons coding for the RCC1-like domain of RPGR. It is the first report of a macrodeletion that spans the entire RCC1-like domain of RPGR in X-linked retinitis pigmentosa patients
16043481 RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.
15914600 Two families were identified with nonsense mutations, and clinical evaluation revealed them both to have a similar phenotype.
15772089 RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
15364249 Sequencing revealed skipping of exon 2 in the mutated transcript, leading to in-frame deletion of 42 amino acids affecting the critical RCC1-like domain.
14566651 Mutations in the RPGR gene is associated with X-linked retinitis pigmentosa
14564670 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
14564670 Among patients with RPGR mutations, those with ORF15 mutations had, on average, a significantly larger visual field area and a borderline larger ERG amplitude than did patients with RPGR mutations in exons 1-14
14516808 Different RPGR mutations lead to distinct RP (retinitis pigmentosa) phenotypes, with a highly variable inter- and intrafamilial phenotypic spectrum of disease
12657579 RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
12160730 Identification of an RPGR mutation in atrophic macular degeneration expands the phenotypic range from retinitis pigmentosa.
12140192 RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors.
11992260 A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
11875055 A mutation in this gene causes X-linked cone dystrophy. This type of hereditary retinal degeneration is distinct from retinitis pigmentosa.
11857109 X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
11754050 Insertional/deletional mutations observed in the three families with X-linked retinitis pigmentosa are all different and new, and are predicted to lead to a frameshift, resulting in a truncated protein.

AA Sequence

MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLG      1 - 70
SKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEH     71 - 140
KIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGE    141 - 210
LYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFL    211 - 280
FETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFI    281 - 350
VKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPD    351 - 420
SFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTV    421 - 490
ESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACK    491 - 560
QHVSQGIFMTQPATTIEAFSDEEVGNDTGQVGPQADTDGEGLQKEVYRHENNNGVDQLDAKEIEKESDGG    561 - 630
HSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQD    631 - 700
VIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKET    701 - 770
KPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAE    771 - 840
DHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEE    841 - 910
RAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSI    911 - 980
GDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL                                  981 - 1020
//

Text Mined References (118)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
26431479 2015 Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene.
25569437 2015 Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.
25556114 2015 Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.
25416956 2014 A proteome-scale map of the human interactome network.
25352739 2014 Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.
25301933 2014 Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.
24981858 2014 C2 domains as protein-protein interaction modules in the ciliary transition zone.
24664734 2014 Pathogenesis of X-linked RP3: insights from animal models.
24555744 2015 Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.
24489377 2014 A novel RPGR mutation masquerading as Stargardt disease.
24454928 2014 Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.
24428633 2015 Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
23681342 2013 Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
23559067 2013 The interplay between RPGR, PDE? and Arl2/3 regulate the ciliary targeting of farnesylated cargo.
23372056 2013 Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23150612 2012 Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
22888088 2013 RPGR mutations might cause reduced orientation of respiratory cilia.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22577079 2012 Functional characterization of the human RPGR proximal promoter.
22183348 2012 Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
21933838 2011 The role of RPGR in cilia formation and actin stability.
21914266 2011 [Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].
21866333 2011 Clinical course of cone dystrophy caused by mutations in the RPGR gene.
21857984 2011 Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
21683121 2011 Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients.
21227725 2011 A novel mutation of RPGR gene in an X-linked Chinese family with retinitis pigmentosa.
21174525 2011 RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
20806050 2010 A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20664800 2010 Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas.
20631154 2010 Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20574030 2010 Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.
20238008 2010 Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).
20090203 2009 RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
20064120 2011 Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.
20021257 2010 Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
19834030 2010 Mutation- and tissue-specific alterations of RPGR transcripts.
19815619 2010 Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.
19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
19429592 2009 RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19218993 2009 Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
18332319 2008 Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
18188948 2008 Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17923551 2007 Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
17898302 2007 Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.
17893654 2007 A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.
17724181 2007 A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
17480003 2007 A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.
17405150 2007 Identification and characterization of a novel RPGR isoform in human retina.
17325176 2007 Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17249551 2006 RCC1-like domain and ORF15: essentials in RPGR gene.
17195164 2007 RPGR mutation analysis and disease: an update.
17093403 2006 Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
16969763 2007 Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
16936086 2006 Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
16935610 2006 Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene.
16917484 2006 Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
16387007 2006 A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.
16273303 2005 Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background.
16086276 2005 A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
16052169 2005 Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
16043481 2005 RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.
15914600 2005 Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
15790807 2005 Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution.
15772651 2005 The DNA sequence of the human X chromosome.
15772089 2005 RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15364249 2004 A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14627685 2003 Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.
14566651 2003 Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.
14564670 2003 RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
14516808 2003 Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.
12920075 2003 RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.
12766038 2003 RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.
12657579 2003 X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12160730 2002 X-linked recessive atrophic macular degeneration from RPGR mutation.
12140192 2002 Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
11992260 2002 A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
11875055 2002 Mutations in the RPGR gene cause X-linked cone dystrophy.
11857109 2002 X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.
11702207 2001 DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
11180598 2001 Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
11104772 2001 Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.
10980543 2000 Sequence variation within the RPGR gene: evidence for a founder complex allele.
10970770 2000 Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.
10958648 2000 The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
10958647 2000 Identification of a novel protein interacting with RPGR.
10937588 2000 X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
10932196 2000 Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
10737996 2000 Novel mutations of the RPGR gene in RP3 families.
10725384 2000 A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3).
10482958 1999 Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
10480356 Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
10401007 1999 RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
10094550 1999 Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).
9990021 1999 The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.
9855162 1998 X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
9677393 1998 Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr).
9418727 1997 Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
9399904 1997 Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
9326322 1997 Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8817343 1996 Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.
8673101 1996 A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7611300 1995 X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.
2300556 1990 Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.