Found: 15
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Deletion of TSPO Causes Dysregulation of Cholesterol Metabolism in Mouse Retina.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 11, p. 3066, doi. 10.3390/cells10113066
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- Publication type:
- Article
Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa.
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- Biochemical Society Transactions, 2018, v. 46, n. 6, p. 1463, doi. 10.1042/BST20180138
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- Article
The Molecular Network of YAP/Yorkie at the Cell Cortex and their Role in Ocular Morphogenesis.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8804, doi. 10.3390/ijms21228804
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- Article
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 910, doi. 10.1038/ng.2347
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- Publication type:
- Article
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 840, doi. 10.1038/ng.662
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- Publication type:
- Article
Loss of Retinitis Pigmentosa 2 (RP2) Protein Affects Cone Photoreceptor Sensory Cilium Elongation in Mice.
- Published in:
- Cytoskeleton, 2015, v. 72, n. 9, p. 447, doi. 10.1002/cm.21255
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- Publication type:
- 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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- Publication type:
- Article
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
- Published in:
- Kidney International, 2014, v. 85, n. 4, p. 880, doi. 10.1038/ki.2013.450
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- Publication type:
- Article
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 4, p. 1, doi. 10.1371/journal.pgen.1008583
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- Publication type:
- Article
Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and RanGTP.
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- Nature Cell Biology, 2010, v. 12, n. 7, p. 703, doi. 10.1038/ncb2073
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- Article
Pars and polarity: taking control of Rac.
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- Nature Cell Biology, 2005, v. 7, n. 3, p. 205, doi. 10.1038/ncb0305-205
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- Publication type:
- Article
Direct interaction of two polarity complexes implicated in epithelial tight junction assembly.
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- Nature Cell Biology, 2003, v. 5, n. 2, p. 137, doi. 10.1038/ncb923
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- Publication type:
- Article
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
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- Journal of Clinical Investigation, 2013, v. 123, n. 8, p. 3243, doi. 10.1172/JCI69134
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- Publication type:
- Article
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
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- 2011
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- Publication type:
- journal article
SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156081
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- Publication type:
- Article