Results 111 to 120 of about 11,057 (243)
Nature Genetics, 2017 Primary cilia organize Hedgehog signaling and shape embryonic development, and their dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic screen for Hedgehog signaling by engineering antibiotic-based selection of ...
David K. Breslow +11 more
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Joubert Syndrome, A Ciliopathy
Pediatric Neurology Briefs, 2013 Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.
openaire +4 more sources
Frontiers in Genetics, 2019 The motile cilium/flagellum is an ancient eukaryotic organelle. The molecular machinery of ciliary motility comprises a variety of cilium-specific dynein motor complexes along with other complexes that regulate their activity.
P. zur Lage, Fay G. Newton, A. Jarman
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Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics. [PDF]
, 2006 Nansheng Chen +18 more
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Repurposing small molecules for Nephronophthisis and related renal ciliopathies.
Kidney International, 2023 A. Benmerah +3 more
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RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies [PDF]
, 2009 Loubna El Zein +7 more
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Medicine, 2011 Primary cilia are hair-like organelles expressed by almost every cell in the body. Although they were first recognized at the end of the 19th century, their functions remained obscure until the last decade. It is increasingly recognized that disorders of cilia structure or function underlie a number of rare human genetic diseases that affect the kidney
Albert C.M. Ong +3 more
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Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies
Translational Science of Rare Diseases, 2019 Ciliopathies display extensive genetic and clinical heterogeneity, varying in severity, age of onset, disease progression and organ systems affected.
H. Chen +3 more
semanticscholar +1 more source
Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila
eLife, 2019 Cilia and flagella are conserved eukaryotic organelles essential for cellular signaling and motility. Cilia dysfunctions cause life-threatening ciliopathies, many of which are due to defects in the transition zone (TZ), a complex structure of the ciliary
Jean-André Lapart +10 more
doaj +1 more source
MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome [PDF]
, 2009 Meral Gunay‐Aygun +14 more
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