Results 21 to 30 of about 11,057 (243)
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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Developmental disruptions underlying brain abnormalities in ciliopathies [PDF]
Nature Communications, 2015 Jiami Guo +2 more
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Nephronophthisis: A Genetically Diverse Ciliopathy [PDF]
International Journal of Nephrology, 2011 Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney
Roslyn Simms +3 more
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Centriole Duplication at the Crossroads of Cell Cycle Control and Oncogenesis [PDF]
CellsCentriole duplication is a vital process for cellular organisation and function, underpinning essential activities such as cell division, microtubule organisation and ciliogenesis.
Claude Prigent
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CYSTIC DISEASE AND CILIOPATHIES [PDF]
Nephrology Dialysis Transplantation, 2014 Junichi Hoshino +45 more
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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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EBioMedicine, 2021 Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht +3 more
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