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Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6341870
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- Publication type:
- Article
Optimization of an Injectable Hydrogel Depot System for the Controlled Release of Retinal-Targeted Hybrid Nanoparticles.
- Published in:
- Pharmaceutics, 2023, v. 15, n. 1, p. 25, doi. 10.3390/pharmaceutics15010025
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- Publication type:
- Article
Efficient Delivery of Hydrophilic Small Molecules to Retinal Cell Lines Using Gel Core-Containing Solid Lipid Nanoparticles.
- Published in:
- Pharmaceutics, 2022, v. 14, n. 1, p. 74, doi. 10.3390/pharmaceutics14010074
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- Publication type:
- Article
Zinc-finger-based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa.
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- EMBO Molecular Medicine, 2011, v. 3, n. 3, p. 118, doi. 10.1002/emmm.201000119
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- Publication type:
- Article
New In Vitro Cellular Model for Molecular Studies of Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6440, doi. 10.3390/ijms22126440
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- Publication type:
- Article
Retinal Pigment Epithelium Remodeling in Mouse Models of Retinitis Pigmentosa.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5381, doi. 10.3390/ijms22105381
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- Publication type:
- Article
Delivery Systems of Retinoprotective Proteins in the Retina.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5344, doi. 10.3390/ijms22105344
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- Publication type:
- Article
Identification of Novel Substrates for cGMP Dependent Protein Kinase (PKG) through Kinase Activity Profiling to Understand Its Putative Role in Inherited Retinal Degeneration.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1180, doi. 10.3390/ijms22031180
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- Publication type:
- Article
Melanoregulin, Product of the dsu Locus, Links the BLOC-Pathway and Oa1 in Organelle Biogenesis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0042446
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- Publication type:
- Article
Functional and Molecular Characterization of Rod-like Cells from Retinal Stem Cells Derived from the Adult Ciliary Epithelium.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033338
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- Publication type:
- Article
Structural aspects of rod opsin and their implication in genetic diseases.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2021, v. 473, n. 9, p. 1339, doi. 10.1007/s00424-021-02546-x
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- Publication type:
- Article
Photoreceptor rescue and toxicity induced by different calpain inhibitors F. Paquet-Durand et al. Calpain in photoreceptor cell death and survival.
- Published in:
- Journal of Neurochemistry, 2010, v. 115, n. 4, p. 930, doi. 10.1111/j.1471-4159.2010.06983.x
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- Publication type:
- Article
Human chromosome 21 gene expression atlas in the mouse.
- Published in:
- Nature, 2002, v. 420, n. 6915, p. 582, doi. 10.1038/nature01178
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- Publication type:
- Article
HDAC inhibition in the cpfl1 mouse protects degenerating cone photoreceptors in vivo.
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- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4462, doi. 10.1093/hmg/ddw275
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- Publication type:
- Article
Dominant and recessive mutations in rhodopsin activate different cell death pathways.
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- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2801, doi. 10.1093/hmg/ddw137
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- Publication type:
- Article
Pigment epithelium-derived factor hinders photoreceptor cell death by reducing intracellular calcium in the degenerating retina.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 5, p. 1, doi. 10.1038/s41419-018-0613-y
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- Publication type:
- Article
Amelioration of both Functional and Morphological Abnormalities in the Retina of a Mouse Model of Ocular Albinism Following AAV-Mediated Gene Transfer
- Published in:
- Molecular Therapy, 2005, v. 12, n. 4, p. 652, doi. 10.1016/j.ymthe.2005.06.001
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- Publication type:
- Article
435. Functional and Morphological Rescue of the Type I Ocular Albinism Murine Retina Following AAV-Mediated Gene Transfer
- Published in:
- 2005
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- Publication type:
- Abstract
Cross-talk between two apoptotic pathways activated by endoplasmic reticulum stress: differential contribution of caspase-12 and AIF.
- Published in:
- Apoptosis, 2006, v. 11, n. 9, p. 1629, doi. 10.1007/s10495-006-9006-2
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- Publication type:
- Article
Aberrant splicing in the ocular albinism type 1 gene ( OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 420, doi. 10.1002/humu.20303
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- Publication type:
- Article
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 426, doi. 10.1002/humu.20235
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- Publication type:
- Article
The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 23, p. 4530, doi. 10.1093/hmg/ddp415
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- Publication type:
- Article
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 22, p. 3487, doi. 10.1093/hmg/ddn241
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- Publication type:
- Article
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1699, doi. 10.1093/hmg/ddm118
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- Publication type:
- Article
In vitro differentiation of retinal pigment epithelium from adult retinal stem cells.
- Published in:
- Pigment Cell & Melanoma Research, 2011, v. 24, n. 1, p. 233, doi. 10.1111/j.1755-148X.2010.00793.x
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- Publication type:
- Article
Calpain Activation Is the Major Cause of Cell Death in Photoreceptors Expressing a Rhodopsin Misfolding Mutation.
- Published in:
- Molecular Neurobiology, 2020, v. 57, n. 2, p. 589, doi. 10.1007/s12035-019-01723-5
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- Publication type:
- Article
Biochemical evidence that patched is the Hedgehog receptor.
- Published in:
- Nature, 1996, v. 384, n. 6605, p. 176, doi. 10.1038/384176a0
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- Publication type:
- Article
Strategies for Improved pDNA Loading and Protection Using Cationic and Neutral LNPs with Industrial Scalability Potential Using Microfluidic Technology.
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- International Journal of Nanomedicine, 2024, v. 19, p. 4235, doi. 10.2147/IJN.S457302
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- Publication type:
- Article
Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention.
- Published in:
- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1343544
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- Publication type:
- Article
The amino acid transporter asc-1 is not involved in cystinuria.
- Published in:
- 2004
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- Publication type:
- journal article