Results 31 to 40 of about 13,378 (282)
Non-classical functions of nuclear pore proteins in ciliopathy
Frontiers in Molecular Biosciences, 2023 Nucleoporins (NUPs) constitute integral nuclear pore protein (NPC) elements. Although traditional NUP functions have been extensively researched, evidence of additional vital non-NPC roles, referred to herein as non-classical NUP functions, is also ...
Yan Chen, Yuan Zhang, Xiang Zhou
semanticscholar +1 more source
Ciliopathies and the Kidney: A Review [PDF]
American Journal of Kidney Diseases, 2021 Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins resulting in a group of diseases collectively known as ciliopathies. Many of these
McConnachie, Dominique J. +2 more
openaire +4 more sources
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models
Cells, 2023 The photoreceptor outer segment is a highly specialized primary cilium that is essential for phototransduction and vision. Biallelic pathogenic variants in the cilia-associated gene CEP290 cause non-syndromic Leber congenital amaurosis 10 (LCA10) and ...
Julio C Corral-Serrano +8 more
semanticscholar +1 more source
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 primary cilium.
Masson, Justine, El Ghouzzi, Vincent
openaire +4 more sources
Nature Reviews Disease Primers, 2020 Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Wallmeier, Julia +6 more
openaire +6 more sources
medRxiv, 2022 Ciliopathies manifest from sensory abnormalities to syndromic disorders with multiorgan pathologies, with retinal degeneration a highly penetrant phenotype. Photoreceptor cell death is a major cause of incurable blindness in retinal ciliopathies.
H. Chen +13 more
semanticscholar +1 more source
Nature Communications, 2022 Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies.
Lauren G. Mascibroda +26 more
semanticscholar +1 more source
CPLANE Complex and Ciliopathies
Biomolecules, 2022 Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP) and the Hedgehog (Hh) signaling pathway.
Jesús Eduardo Martín-Salazar +1 more
openaire +4 more sources
The nonmotile ciliopathies [PDF]
Genetics in Medicine, 2009 Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field,
Jonathan L. Tobin, Philip L. Beales
openaire +3 more sources
Ciliopathies in pediatric endocrinology
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. Identification of new genes and mutations is the major challenge in development of a tailored and appropriate therapy.
Ilenia Cicolini +2 more
openaire +3 more sources