Ciliopathies in pediatric endocrinology [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects.
Ilenia Cicolini +2 more
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Golgi Dysfunctions in Ciliopathies
Cells, 2022 The Golgi apparatus (GA) is essential for intracellular sorting, trafficking and the targeting of proteins to specific cellular compartments. Anatomically, the GA spreads all over the cell but is also particularly enriched close to the base of the ...
Justine Masson, Vincent El Ghouzzi
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Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies [PDF]
EMBO Molecular MedicinePrimary cilia are solitary organelles formed by a microtubule-based skeleton protruding in a single copy on the surface of most cells. Alterations in their function cause a plethora of human conditions collectively called the ciliopathies.
Sara Clerici, Alessandra Boletta
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Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies [PDF]
DiagnosticsCiliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and
Katia Margiotti +10 more
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Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia [PDF]
CellsCiliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes
Patrícia Quelhas +2 more
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Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies [PDF]
Molecular MedicinePrimary cilia are sensory organelles that extend from the cellular membrane and are found in a wide range of cell types. Cilia possess a plethora of vital components that enable the detection and transmission of several signaling pathways, including Wnt ...
Xiaonan Liu +5 more
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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, Hannah M. Mitchison
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New functions of B9D2 in tight junctions and epithelial polarity [PDF]
Scientific ReportsCiliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating
Chloe Caenen-Braz +2 more
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The importance of genomic profiling for differential diagnosis of pediatric lung disease patients with suspected ciliopathies [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2019 Introduction/Objective. Dysfunction of the axonemal structure leads to ciliopathies. Sensory and motile ciliopathies have been associated with numerous pediatric diseases, including respiratory diseases.
Anđelković Marina +7 more
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Primary cilia-associated protein IFT172 in ciliopathies
Frontiers in Cell and Developmental Biology, 2023 Cilium is a highly conserved antenna-like structure protruding from the surface of the cell membrane, which is widely distributed on most mammalian cells. Two types of cilia have been described so far which include motile cilia and immotile cilia and the
Nan-Xi Zheng +7 more
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