Results 151 to 160 of about 9,546 (191)
Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.
Kidney Blood Press ResSecondulfo F +7 more
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A functional and therapeutic investigation of ciliopathy proteins and ciliopathies
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Current insights into renal ciliopathies: what can genetics teach us? [PDF]
Pediatric Nephrology, 2012 Ciliopathies are a group of clinically and genetically overlapping disorders whose etiologies lie in defective cilia. These are antenna-like organelles on the apical surface of numerous cell types in a variety of tissues and organs, the kidney included ...
Heleen H Arts, Knoers Nine V A M
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Ophthalmic Genetics, 2007
While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes.
N A, Adams +2 more
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While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes.
N A, Adams +2 more
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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 ...
R Claudio Aguilar +1 more
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Medical genetics of ciliopathies
Journal of Pediatric Genetics, 2015Neither of us had heard about the existence of cilia during biology or genetics courses in high school or university. Nonetheless, these evolutionarily conserved, antenna-shaped organelles of the cell appear to be essential for human development and proper functioning of our organs.
Mans, D.A., Arts, H.H.
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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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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
openaire +1 more source
2018
Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems.
Stephen H, Tsang +2 more
openaire +2 more sources
Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems.
Stephen H, Tsang +2 more
openaire +2 more sources