Results 21 to 30 of about 13,378 (282)
Joubert Syndrome, A Ciliopathy
Pediatric Neurology Briefs, 2013 Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS ...
J Gordon Millichap
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Cold Spring Harbor Perspectives in Biology, 2016 Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence.
Daniela A. Braun, Friedhelm Hildebrandt
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Combatting renal ciliopathies [PDF]
Cilia, 2012 A hallmark of many ciliopathies are renal cysts, ultimately disrupting kidney architecture and resulting in end-stage renal disease as the most common cause of mortality. Yet despite being the largest demand for renal replacement therapy (ie. dialysis, kidney transplantation) in young patients, the exact etiology of nephronophthisis (NPHP) and ...
Rachel H. Giles
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Ciliopathies: The Trafficking Connection [PDF]
Traffic, 2014 The primary cilium (PC) is a very dynamic hair‐like membrane structure that assembles/disassembles in a cell‐cycle‐dependent manner and is present in almost every cell type. Despite being continuous with the plasma membrane, a diffusion barrier located at the ciliary base confers the PC properties of a separate organelle with very specific ...
Kayalvizhi Madhivanan +1 more
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Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity [PDF]
Orphanet Journal of Rare DiseasesBackground Rare diseases affect approximately 400 million people worldwide. Many of them suffer from delayed diagnosis. Among them, NPHP1-related renal ciliopathies need to be diagnosed as early as possible as potential treatments have been recently ...
Carole Faviez +8 more
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Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications. [PDF]
Adv Sci (Weinh)HDAC6 regulates primary cilia, crucial for cellular signalling and environmental responses. Dysregulation of HDAC6 contributes to ciliopathies, affecting multiple organs. This review examines HDAC6's role in ciliogenesis, its interaction with signaling molecules, and its potential as a therapeutic target.
Wang Z +5 more
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bioRxiv, 2023 Motile cilia are ancient, evolutionarily conserved organelles whose dysfunction underlies motile ciliopathies, a broad class of human diseases.
Caitlyn L. McCafferty +6 more
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CYSTIC DISEASE AND CILIOPATHIES [PDF]
Nephrology Dialysis Transplantation, 2014 Junichi Hoshino +45 more
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Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy [PDF]
, 2015 Isabelle Perrault +20 more
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