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Liver involvement in children with ciliopathies
Clinics and Research in Hepatology and Gastroenterology, 2014Abnormalities in primary cilia lead to diseases called ciliopathies. Multiple organ involvement is the norm since primary cilia are present in most cells. When cholangiocyte cilia are abnormal, ductal plate malformation ensues leading to such conditions as congenital hepatic fibrosis, Caroli disease or syndrome, or other fibrocystic disease.
Rock, Nathalie, Mclin, Valérie Anne
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Primary cilia are essential cellular organelles with pivotal roles in many signalling pathways. Here we provide an overview of the role of primary cilia within the kidney, starting with primary ciliary structure and key protein complexes. We then highlight the specialised functions of primary cilia, emphasising their role in a group of diseases known ...
Laura A, Devlin +3 more
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Laura A, Devlin +3 more
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Skeletal ciliopathy: pathogenesis and related signaling pathways.
Molecular and Cellular Biochemistry, 2023Bowen Lai +3 more
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Primary ciliary dyskinesia. Ciliopathies
Acta Otorrinolaringologica (English Edition), 2010Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome).
Miguel Armengot Carceller +3 more
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Renal Pathology of Ciliopathies
Pediatric and Developmental PathologyRenal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension.
Thivya, Sekar, Neil J, Sebire
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Ciliopathy: Sjögren-Larsson Syndrome
2018Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). These inclusions are evident at 1-2 years old and increase with age. Patients may have corneal stromal opacities, punctate keratitis, myopia, and astigmatism.
Alicia R. P. Aycinena +3 more
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Ciliopathy: Senior-Løken Syndrome
2018Senior-Løken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. Retinopathy may progress as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or sector RP (Figs. 34.1 and 34.2). Onset of photophobia, nystagmus, and hyperopia can occur in the first few years of life or later in childhood.
Stephen H. Tsang +3 more
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Ciliopathy: Bardet-Biedl Syndrome
2018Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present.
Tarun Sharma +3 more
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The ciliopathies and their relationship with ophthalmology
Archivos de la Sociedad Española de Oftalmología (English Edition), 2013Pinazo-Durán, E.D. Silva
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