PubMed Latest Articles
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
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21 November 2018
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Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation.
Related Articles Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation.
Cell Mol Life Sci. 2018 Nov 16;:
Authors: Patnaik SR, Kretschmer V, Brücker L, Schneider S, Volz AK, Oancea-Castillo LDR, May-Simera HL
Abstract
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Primary cilia are conserved organelles that mediate cellular communication crucial for organogenesis and homeostasis in numerous tissues. The retinal pigment epithelium (RPE) is a ciliated monolayer in -
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Related Articles Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Proc Natl Acad Sci U S A. 2018 Nov 16;:
Authors: Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, Devlin LA, White K, Steel DH, Saunier S, Miles CG, Sayer JA
Abstract
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Genetic treatments of renal ciliopathies leading to cystic kidney disease would provide a real advance in current therapies. -
Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice.
Related Articles Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice.
Hum Mol Genet. 2018 Nov 15;:
Authors: Putoux A, Baas D, Paschaki M, Morlé L, Maire C, Attié-Bitach T, Thomas S, Durand B
Abstract
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Acrocallosal syndrome (ACLS) is a rare genetic disorder characterized by agenesis or hypoplasia of corpus callosum (CC), polydactyly, craniofacial dysmorphism and severe intellectual deficiency. We -
[Primary ciliary disquinesia related bronchiectasis. Relevance of Pigmentary retinitis among clinical data.]
Related Articles [Primary ciliary disquinesia related bronchiectasis. Relevance of Pigmentary retinitis among clinical data.]
Rev Fac Cien Med Univ Nac Cordoba. 2018 06 18;75(2):143-144
Authors: Cambursano VH
PMID: 30273539 [PubMed - indexed for MEDLINE]