Found: 39
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Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition.
- Published in:
- Scientific Reports, 2015, p. 11137, doi. 10.1038/srep11137
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- Article
Photoreceptor Sensory Cilium: Traversing the Ciliary Gate.
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- Cells (2073-4409), 2015, v. 4, n. 4, p. 674, doi. 10.3390/cells4040674
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- Publication type:
- Article
Epidemiology and costs of severe acute respiratory infection and influenza hospitalizations in adults with diabetes in India.
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- Journal of Infection in Developing Countries, 2019, v. 13, n. 3, p. 204, doi. 10.3855/jidc.10903
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- Article
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3333, doi. 10.1093/hmg/dds163
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- Article
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
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- Human Molecular Genetics, 2011, v. 20, n. 5, p. 975, doi. 10.1093/hmg/ddq543
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- Article
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
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- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4330, doi. 10.1093/hmg/ddq355
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- Publication type:
- Article
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.
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- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3591, doi. 10.1093/hmg/ddq275
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- Publication type:
- Article
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.
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- Human Molecular Genetics, 2010, v. 19, n. 1, p. 90, doi. 10.1093/hmg/ddp469
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- Publication type:
- Article
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
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- Human Molecular Genetics, 2006, v. 15, n. 11, p. 1847, doi. 10.1093/hmg/ddl107
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- Article
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors.
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- Human Molecular Genetics, 2004, v. 13, n. 15, p. 1563, doi. 10.1093/hmg/ddh173
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- Publication type:
- Article
Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00111-8
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- Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
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- Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
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- Publication type:
- Article
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
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- Nature Genetics, 2006, v. 38, n. 6, p. 674, doi. 10.1038/ng1786
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- Publication type:
- Article
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
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- Nature Genetics, 2005, v. 37, n. 3, p. 282, doi. 10.1038/ng1520
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- Publication type:
- Article
Loss of Retinitis Pigmentosa 2 (RP2) Protein Affects Cone Photoreceptor Sensory Cilium Elongation in Mice.
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- Cytoskeleton, 2015, v. 72, n. 9, p. 447, doi. 10.1002/cm.21255
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- Publication type:
- Article
Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15.
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- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0035865
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- Article
Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants.
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- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021379
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- Article
Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney.
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- 2010
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- Publication type:
- Letter
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.
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- Human Genetics, 2017, v. 136, n. 8, p. 941, doi. 10.1007/s00439-017-1823-6
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- Article
The Ocular Gene Delivery Landscape.
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- Biomolecules (2218-273X), 2021, v. 11, n. 8, p. 1135, doi. 10.3390/biom11081135
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- Publication type:
- Article
A Systematic Review and Meta-Analyses of Interventional Clinical Trial Studies for Gene Therapies for the Inherited Retinal Degenerations (IRDs).
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- Biomolecules (2218-273X), 2021, v. 11, n. 5, p. 760, doi. 10.3390/biom11050760
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- Article
Povidone-Iodine Attenuates Viral Replication in Ocular Cells: Implications for Ocular Transmission of RNA Viruses.
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- Biomolecules (2218-273X), 2021, v. 11, n. 5, p. 753, doi. 10.3390/biom11050753
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- Article
VEGF Mediates Retinal Müller Cell Viability and Neuroprotection through BDNF in Diabetes.
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- Biomolecules (2218-273X), 2021, v. 11, n. 5, p. 712, doi. 10.3390/biom11050712
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- Article
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.
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- 2022
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- Case Study
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 4, p. 1233, doi. 10.1172/JCI60981
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- Article
"Ghost on the coast": Persistent hallucinations through the prism of cultural concepts of distress.
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- Industrial Psychiatry Journal, 2021, v. 30, n. 2, p. 353, doi. 10.4103/ipj.ipj_103_21
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- Publication type:
- Article
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
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- Human Mutation, 2007, v. 28, n. 11, p. 1074, doi. 10.1002/humu.20565
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- Publication type:
- Article
Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00323
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- Article
Widespread expression of the Supv3L1 mitochondrial RNA helicase in the mouse.
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- Transgenic Research, 2010, v. 19, n. 4, p. 691, doi. 10.1007/s11248-009-9346-0
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- Publication type:
- Article
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).
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- Human Molecular Genetics, 2020, v. 29, n. 22, p. 3706, doi. 10.1093/hmg/ddaa269
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- Publication type:
- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
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- Human Molecular Genetics, 2019, v. 28, n. 1, p. 175, doi. 10.1093/hmg/ddy342
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- Publication type:
- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
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- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5444, doi. 10.1093/hmg/ddw361
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- Article
Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
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- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4533, doi. 10.1093/hmg/ddw281
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- Publication type:
- Article
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
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- Human Molecular Genetics, 2016, v. 25, n. 10, p. 2005, doi. 10.1093/hmg/ddw075
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- Publication type:
- Article
Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.
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- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1345, doi. 10.1093/hmg/ddw017
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- Publication type:
- Article
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6446, doi. 10.1093/hmg/ddv354
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- Article
Molecular Assessment of Epiretinal Membrane: Activated Microglia, Oxidative Stress and Inflammation.
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- Antioxidants, 2020, v. 9, n. 8, p. 654, doi. 10.3390/antiox9080654
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- Publication type:
- Article
Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 4, p. 365, doi. 10.1093/hmg/ddg035
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- Publication type:
- Article
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
- Published in:
- Journal of Genetics, 2009, v. 88, n. 4, p. 399, doi. 10.1007/s12041-009-0061-7
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- Publication type:
- Article