Results 131 to 140 of about 13,378 (282)
Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]
, 2016 Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar +44 more
core +2 more sources
Hyperphagia in Bardet–Biedl syndrome: Pathophysiology, burden, and management
Obesity Reviews, Volume 26, Issue 7, July 2025.Summary Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous, and highly pleiotropic autosomal recessive ciliopathy. Patients typically present with early loss of vision, hyperphagia, severe obesity, learning difficulties, and renal dysfunction. In patients with BBS, dysfunction of the immotile primary cilia in the hypothalamic melanocortin‐
Philip L. Beales +7 more
wiley +1 more source
Uni-directional ciliary membrane protein trafficking by a cytoplasmic retrograde IFT motor and ciliary ectosome shedding [PDF]
, 2015 The role of the primary cilium in key signaling pathways depends on dynamic regulation of ciliary membrane protein composition, yet we know little about the motors or membrane events that regulate ciliary membrane protein trafficking in existing ...
Adair +63 more
core +3 more sources
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis [PDF]
, 2014 Initially identified in DNA damage repair, ATM-interactor (ATMIN) further functions as a transcriptional regulator of lung morphogenesis. Here we analyse three mouse mutants, Atmin(gpg6/gpg6), Atmin(H210Q/H210Q) and Dynll1(GT/GT), revealing how ATMIN and
Agueci, Francesco +22 more
core +4 more sources
Advanced Science, Volume 12, Issue 22, June 12, 2025.An open‐source, low‐cost 3D perfusion system integrating bioprinted scaffolds and live‐imaging overcomes 2D culture limitations. Modeling the cerebrospinal fluid‐filled subarachnoid space, it reveals flow‐dependent focal adhesion kinase activation in meningothelial cells, demonstrating a powerful platform for studying mechanobiology and creating ...
Subashree Srinivasan +7 more
wiley +1 more source
European Journal of Pediatrics, 2011 Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies.
openaire +2 more sources
Advanced Science, Volume 12, Issue 21, June 5, 2025.Histone Deacetylase 6 in Ciliopathies HDAC6's dual role in ciliopathies is portrayed through Nezha, symbolizing its complex regulatory function in ciliary dynamics. Merging mythology with science, the image highlights HDAC6's influence on cilia‐related signaling and disease progression, and the therapeutic promise of selective inhibitors in restoring ...
Zhiyi Wang +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Putative roles of cilia in polycystic kidney disease [PDF]
, 2011 The last 10years has witnessed an explosion in research into roles of cilia in cystic renal disease. Cilia are membrane-enclosed finger-like projections from the cell, usually on the apical surface or facing into a lumen, duct or airway.
Jenkins, Dagan, Winyard, Paul
core +1 more source
Stem Cell Research, 2018 Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement.
Jessica Rosati +10 more
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