Results 51 to 60 of about 1,464 (120)
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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Hyperphagia in Bardet–Biedl syndrome: Pathophysiology, burden, and management
Obesity Reviews, EarlyView.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
Mitochondrial control of ciliary gene expression and structure in striatal neurons
The Journal of Physiology, EarlyView.Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen +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
Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Jun Yin +7 more
wiley +1 more source
661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies
Frontiers in Genetics, 2019 The retina contains several ciliated cell types, including the retinal pigment epithelium (RPE) and photoreceptor cells. The photoreceptor cilium is one of the most highly modified sensory cilia in the human body.
Gabrielle Wheway +7 more
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Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches
PROTEOMICS, EarlyView.
Paul Perco +7 more
wiley +1 more source
Journal of Neuroscience Research, Volume 103, Issue 5, May 2025.A family of human proteins, encoded by Tubulin Polymerization Promoting Proteins (TPPP), is highly conserved across species. TPPP displays remarkable functional diversity and is implicated in various neurological disorders. Image created with BioRender.com.
Paloma J. Diaz +3 more
wiley +1 more source
Human efferent ductules and epididymis display unique cell lineages with motile and primary cilia
Andrology, Volume 13, Issue 4, Page 894-910, May 2025.Abstract Background Previous research has illustrated the role of cilia as mechanical and sensory antennae in various organs within the mammalian male reproductive system across different developmental stages. Despite their significance in both organ development and homeostasis, primary cilia in the human male reproductive excurrent duct have been ...
Ludovic Vinay +2 more
wiley +1 more source
Hedgehog Signal and Genetic Disorders
Frontiers in Genetics, 2019 The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide spectrum of biological events including cell differentiation, proliferation, and ...
Noriaki Sasai +3 more
doaj +1 more source