Results 261 to 270 of about 16,795 (294)

Renal ciliopathies

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, Rebecca M, Dewhurst, Praveen D, Sudhindar, John A, Sayer   +3 more
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Cilia and ciliopathy

Genes & Cells, 2020
Cilia (cilia) are organelles that are characteristic exclusively for eukaryotes and are found in protozoa, on somatic and germ cells of multicellular, as well as gametes of many plants. In humans, two main types of cilia are distinguished: motile and sensory; also in embryogenesis, it is customary to isolate special nodular cilia necessary for the ...
F. A Indeykin, M. O Mavlikeev, R. V Deev
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[Ciliopathies].

Klinische Monatsblatter fur Augenheilkunde, 2019
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most
Christina, Gerth-Kahlert, Samuel, Koller
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Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies.

Nephrology, Dialysis and Transplantation, 2020
The primary cilium (PC) was considered as a vestigial organelle with no significant physiological importance, until the discovery that PC perturbation disturbs several signalling pathways and results in the dysfunction of a variety of organs.
M. Zacchia, E. Marchese, Elena Martina Trani, M. Caterino, G. Capolongo, A. Perna, M. Ruoppolo, G. Capasso   +7 more
semanticscholar   +1 more source

Ciliopathy: Bardet-Biedl Syndrome

2018
Bardet-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.
Stephen H, Tsang, Alicia R P, Aycinena, Tarun, Sharma   +2 more
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Ciliopathies

Pathology of Genetically Engineered and Other Mutant Mice, 2021
P. Vogel, L. Janke
semanticscholar   +1 more source

Ciliopathy: Senior-Løken Syndrome

2018
Senior-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, Alicia R P, Aycinena, Tarun, Sharma   +2 more
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Ciliopathy: Sjögren-Larsson Syndrome

2018
Glistening 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.
Stephen H, Tsang, Alicia R P, Aycinena, Tarun, Sharma   +2 more
openaire   +2 more sources

Renal Pathology of Ciliopathies

Pediatric and Developmental Pathology
Renal 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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Ciliopathies

Abstract Ciliopathies refer to a collection of disorders caused by defects in the formation or function of the primary cilium. The clinical manifestations of ciliopathies are broadly overlapping, yet highly variable. Syndromic ciliopathies, including Bardet-Biedl syndrome (BBS), Joubert syndrome (JBTS), Usher syndrome, and Senior-Løken ...
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