Results 71 to 80 of about 13,378 (282)
A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype
Genes, 2021 Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function
G. Tuncel +4 more
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RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]
, 2018 Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre +68 more
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Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.
PLoS Genetics, 2016 Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and ...
Chen-Jei Hong, Bruce A Hamilton
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Kidney transcriptome and cystic kidney disease genes in zebrafish
Frontiers in Physiology, 2023 Introduction: Polycystic kidney disease (PKD) is a condition where fluid filled cysts form on the kidney which leads to overall renal failure. Zebrafish has been recently adapted to study polycystic kidney disease, because of its powerful embryology and ...
Matthew Koslow +5 more
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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]
, 2014 Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H +17 more
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Medical genetics of ciliopathies
Journal of Pediatric Genetics, 2015 Neither of us had heard about the existence of cilia during biology or genetics courses in high school or university. Nonetheless, these evolutionarily conserved, antenna-shaped organelles of the cell appear to be essential for human development and proper functioning of our organs.
Mans, D.A., Arts, H.H.
openaire +5 more sources
Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond
eLife, 2023 The BBSome is an octameric protein complex that regulates ciliary transport and signaling. Mutations in BBSome subunits are closely associated with ciliary defects and lead to ciliopathies, notably Bardet-Biedl syndrome.
Xiaoyu Tian, Huijie Zhao, Jun Zhou
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Zebrafish Assays of Ciliopathies [PDF]
, 2011 In light of the growing list of human disorders associated with their dysfunction, primary cilia have recently come to attention as being important regulators of developmental signaling pathways and downstream processes. These organelles, present on nearly every vertebrate cell type, are highly conserved structures allowing for study across a range of ...
Norann A. Zaghloul, Nicholas Katsanis
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Characterizing the morbid genome of ciliopathies [PDF]
, 2016 Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti +75 more
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Frontiers in Molecular Biosciences, 2023 Objectives: Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) are among the so-called ciliopathies and are associated with the development of multiple systemic abnormalities, including early childhood obesity and progressive neurodegeneration ...
Krzysztof Jeziorny +7 more
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