Post‐Translational Modifications in Cilia and Ciliopathies [PDF]
Advanced ScienceCilia are microtubule‐based organelles that extend from the surface of most vertebrate cells, and they play important roles in diverse cellular processes during embryonic development and tissue homeostasis.
Jie Ran, Jun Zhou
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Clinical and genetic heterogeneity of primary ciliopathies (Review)
International Journal of Molecular Medicine, 2021 Ciliopathies comprise a group of complex disorders, with involvement of the majority of organs and systems. In total, >180 causal genes have been identified and, in addition to Mendelian inheritance, oligogenicity, genetic modifications, epistatic ...
Ina Ofelia Focșa +2 more
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Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes [PDF]
Nature CommunicationsTubulinopathies and neurodevelopmental ciliopathies are two groups of genetic disorders that cause structural brain malformations. Tubulinopathies result from mutations in tubulins, the building blocks of microtubules, most of which are dominant ...
Antonio Mollica +21 more
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Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications [PDF]
Advanced ScienceHDAC6 is integral to the regulation of primary cilia, which are specialized structures that serve as crucial signaling hubs for cellular communication and environmental response.
Zhiyi Wang +5 more
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Senior–Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management [PDF]
BiomoleculesSenior–Loken syndrome (SLSN) is a group of rare autosomal recessive disorders caused by dysfunction of the primary cilium, primarily affecting the kidneys (typically leading to nephronophthisis) and eyes (typically leading to retinal degeneration ...
Di Zhou +4 more
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Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies [PDF]
DiagnosticsCiliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and
Katia Margiotti +10 more
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Genes and molecular pathways underpinning ciliopathies
Nature Reviews Molecular Cell Biology, 2017 Jeremy F Reiter, Michel R Leroux
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Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models
eLife, 2020 Defective primary cilia cause a range of diseases known as ciliopathies, including hearing loss. The etiology of hearing loss in ciliopathies, however, remains unclear.
Kyeong-Hye Moon +6 more
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The morbid genome of ciliopathies: an update
Genetics in Medicine, 2020 Hanan E Shamseldin +2 more
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Ocular manifestations of renal ciliopathies [PDF]
Pediatric Nephrology, 2023 AbstractRenal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human ...
Omar Salehi +4 more
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