Results 161 to 170 of about 8,699 (199)
Network-based framework for studying etiology and phenotype diversity in primary ciliopathies
Aarts E +11 more
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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 +2 more
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Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
Journal of Developmental Biology, 2022 Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues.
Vasiliki Karalis +2 more
exaly +2 more sources
Proteome balance in ciliopathies: the OFD1 protein example
Trends in Molecular Medicine, 2023 The balance of protein synthesis and degradation is finely regulated and influences cellular homeostasis and biological processes (e.g., embryonic development and neuronal plasticity).
Manuela Morleo, Brunella Franco
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Modeling Human Disease in Humans: The Ciliopathies
Cell, 2011 Soon, the genetic basis of most human Mendelian diseases will be solved. The next challenge will be to leverage this information to uncover basic mechanisms of disease and develop new therapies.
Gaia Novarino, Joseph G Gleeson
exaly +2 more sources
Renal ciliopathies: promising drug targets and prospects for clinical trials [PDF]
Expert Opinion on Therapeutic Targets, 2023 \ua9 2023 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.Introduction: Renal ciliopathies represent a collection of genetic disorders characterized by deficiencies in the biogenesis, maintenance, or functioning of ...
L A Devlin +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 ...
Kayalvizhi Madhivanan +1 more
exaly +3 more sources
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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
openaire +2 more sources
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
openaire +2 more sources
Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project [PDF]
Frontiers in Genetics, 2019 Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects
Gabrielle Wheway +2 more
exaly +2 more sources