Pages that link to "Q28290670"

The following pages link to Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 (Q28290670):

Displaying 50 items.

• The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase (Q22001446) (← links)
• cDNA cloning, gene characterization and 13q14.3 chromosomal assignment of CHC1-L, a chromosome condensation regulator-like guanine nucleotide exchange factor (Q22007949) (← links)
• DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness (Q22010834) (← links)
• Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C (Q24292311) (← links)
• RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin (Q24298139) (← links)
• Identification of a novel Ran binding protein 2 related gene (RANBP2L1) and detection of a gene cluster on human chromosome 2q11-q12 (Q24313009) (← links)
• Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa (Q24313576) (← links)
• Positional cloning of the gene for X-linked retinitis pigmentosa 2 (Q24322014) (← links)
• The role of RPGR in cilia formation and actin stability (Q24338338) (← links)
• RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa (Q24532214) (← links)
• Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (Q24533348) (← links)
• Null RPGRIP1 alleles in patients with Leber congenital amaurosis (Q24533477) (← links)
• RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins (Q24533513) (← links)
• Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations (Q24535622) (← links)
• Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. (Q24538863) (← links)
• Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa (Q24540158) (← links)
• A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 (Q24540164) (← links)
• Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study (Q24540229) (← links)
• A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa (Q24612935) (← links)
• Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis (Q24673292) (← links)
• A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3) (Q24676561) (← links)
• 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 (Q24678278) (← links)
• Retinal dystrophies, genomic applications in diagnosis and prospects for therapy (Q26770321) (← links)
• Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease (Q26774786) (← links)
• Scrutinizing ciliopathies by unraveling ciliary interaction networks (Q27025614) (← links)
• The 1.7 Å crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller (Q27748937) (← links)
• ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting (Q28000117) (← links)
• The Role of RPGR and Its Interacting Proteins in Ciliopathies (Q28081883) (← links)
• Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). (Q28114957) (← links)
• HERC3 binding to and regulation by ubiquitin (Q28143584) (← links)
• Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2) (Q28145835) (← links)
• The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis (Q28190263) (← links)
• Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition (Q28263322) (← links)
• Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr) (Q28277493) (← links)
• Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration (Q28287923) (← links)
• 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 (Q28291575) (← links)
• Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium (Q28507407) (← links)
• Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly (Q28512704) (← links)
• Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms (Q30528634) (← links)
• Retinitis pigmentosa: defined from a molecular point of view (Q33534644) (← links)
• Management of hereditary retinal degenerations: present status and future directions (Q33642751) (← links)
• 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 (Q34144057) (← links)
• A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. (Q34387798) (← links)
• Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene (Q34390529) (← links)
• Cyclophilin-related protein RanBP2 acts as chaperone for red/green opsin (Q34401695) (← links)
• RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa (Q34559746) (← links)
• Nuclear phosphoinositides could bring FYVE alive. (Q34572888) (← links)
• The complexities of ocular genetics (Q34592303) (← links)
• Mutations of RPGR in X-linked retinitis pigmentosa (RP3). (Q34610277) (← links)
• Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells (Q34994553) (← links)