Found: 29
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Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4313, doi. 10.3390/ijms22094313
- By:
- Publication type:
- Article
GATA3 induces mitochondrial biogenesis in primary human CD4+ T cells during DNA damage.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23715-7
- By:
- Publication type:
- Article
Adipogenic Differentiation of hMSCs is Mediated by Recruitment of IGF-1r Onto the Primary Cilium Associated With Cilia Elongation.
- Published in:
- Stem Cells, 2015, v. 33, n. 6, p. 1952, doi. 10.1002/stem.1975
- By:
- Publication type:
- Article
P2-151: A novel RNA affinity purification procedure to identify regulators of tau mRNA localisation
- Published in:
- 2008
- By:
- Publication type:
- Abstract
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 740, doi. 10.1038/ng.2299
- By:
- Publication type:
- Article
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1135, doi. 10.1038/ng1644
- By:
- Publication type:
- Article
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
- Published in:
- Nature Genetics, 2005, v. 37, n. 2, p. 166, doi. 10.1038/ng1501
- By:
- Publication type:
- Article
Hedgehog signalling does not stimulate cartilage catabolism and is inhibited by Interleukin-1β.
- Published in:
- Arthritis Research & Therapy, 2015, v. 17, p. 1, doi. 10.1186/s13075-015-0891-z
- By:
- Publication type:
- Article
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
- Published in:
- FASEB Journal, 2019, v. 33, n. 2, p. 2982, doi. 10.1096/fj.201801556R
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- Publication type:
- Article
Biophysical Studies of a Rhinovirus: Ultracentrifugation and Electron Microscopy.
- Published in:
- Nature, 1966, v. 209, n. 5025, p. 790, doi. 10.1038/209790a0
- By:
- Publication type:
- Article
Myxomatosis and the Rabbit Flea.
- Published in:
- Nature, 1965, v. 207, n. 4995, p. 388, doi. 10.1038/207388a0
- By:
- Publication type:
- Article
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3478, doi. 10.1093/hmg/ddac128
- By:
- Publication type:
- Article
Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 19, p. 3338, doi. 10.1093/hmg/ddaa190
- By:
- Publication type:
- Article
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3451, doi. 10.1093/hmg/ddx245
- By:
- Publication type:
- Article
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 16, p. 3130, doi. 10.1093/hmg/ddx197
- By:
- Publication type:
- Article
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2480, doi. 10.1093/hmg/ddx143
- By:
- Publication type:
- Article
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3232, doi. 10.1093/hmg/ddw173
- By:
- Publication type:
- Article
The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6594, doi. 10.1093/hmg/ddu385
- By:
- Publication type:
- Article
Primary cilia: a link between hormone signalling and endocrine-related cancers?
- Published in:
- Biochemical Society Transactions, 2016, v. 44, n. 5, p. 1227, doi. 10.1042/BST20160149
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- Publication type:
- Article
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 950, doi. 10.1002/humu.21292
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- Publication type:
- Article
Electron Microscopy of Myxoma Virus.
- Published in:
- Nature, 1963, v. 199, n. 4889, p. 199, doi. 10.1038/199199a0
- By:
- Publication type:
- Article
Electrophoresis of Colicines in Agar Gel.
- Published in:
- Nature, 1962, v. 195, n. 4848, p. 1325, doi. 10.1038/1951325a0
- By:
- Publication type:
- Article
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1556, doi. 10.1093/hmg/ddp067
- By:
- Publication type:
- Article
Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2760, doi. 10.1093/hmg/ddm233
- By:
- Publication type:
- Article
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3065, doi. 10.1093/hmg/11.24.3065
- By:
- Publication type:
- Article
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 7, p. 823, doi. 10.1093/hmg/11.7.823
- By:
- Publication type:
- Article
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1919, doi. 10.1093/hmg/9.13.1919
- By:
- Publication type:
- Article
TAp73 isoforms antagonize Notch signalling in SH-SY5Y neuroblastomas and in primary neurones.
- Published in:
- Journal of Neurochemistry, 2006, v. 99, n. 3, p. 989, doi. 10.1111/j.1471-4159.2006.04142.x
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- Publication type:
- Article