Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies [PDF]
Genome BiologyBackground Recent advances in sequencing technologies have increasingly enabled the identification of genetic causes for human monogenic diseases. However, systematic understanding remains limited due to the rarity, genetic heterogeneity, and complex ...
Ellen M. Aarts +11 more
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Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies [PDF]
EMBO Molecular MedicinePrimary cilia are solitary organelles formed by a microtubule-based skeleton protruding in a single copy on the surface of most cells. Alterations in their function cause a plethora of human conditions collectively called the ciliopathies.
Sara Clerici, Alessandra Boletta
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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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Exploring the Spectrum of Kidney Ciliopathies
Diagnostics, 2020 Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC).
Matteo Santoni +2 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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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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Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
Frontiers in Genetics, 2019 Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects ...
Gabrielle Wheway +2 more
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Ciliopathies in pediatric endocrinology [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects.
Ilenia Cicolini +2 more
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Editorial: Advances in cilia and flagella research [PDF]
Frontiers in Cell and Developmental BiologyMaureen Wirschell, Lance Lee, Aimin Liu
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