Results 241 to 250 of about 12,422 (262)
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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: 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: 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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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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Genes and molecular pathways underpinning ciliopathies
Nature Reviews Molecular Cell Biology, 2017Jeremy F Reiter, Michel R Leroux
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A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
Nature Medicine, 2020Raghu R Chivukula +2 more
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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Science, 2012Jeong Ho Lee +2 more
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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Cell, 2011Rachel H Giles +2 more
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