Results 31 to 40 of about 8,699 (199)

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

Frontiers in Molecular Biosciences, 2022
Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato, Brais Bea-Mascato, Elena Neira-Goyanes, Elena Neira-Goyanes, Antía Iglesias-Rodríguez, Antía Iglesias-Rodríguez, Diana Valverde, Diana Valverde   +7 more
doaj   +1 more source

Ciliopathies

Klinische Monatsblatter fur Augenheilkunde, 2018
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most
Fabien Ho, Henry Knipe, Daniel Bell
openaire   +4 more sources

Prenatal Diagnosis of Short Rib-Polydactyly Syndrome (SRPS), <i>DYNC2I1</i>-Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing. [PDF]

Clin Case Rep
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Xian S, Zhao Q, Li Y, Li L, Li Z, Zhang M, Feng S, Zhao Q.   +7 more
europepmc   +2 more sources

Nephronophthisis-Associated Ciliopathies [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Friedhelm, Hildebrandt, Weibin, Zhou
openaire   +2 more sources

Basal body stability and ciliogenesis requires the conserved component Poc1 [PDF]

, 2009
Centrioles are the foundation for centrosome and cilia formation. The biogenesis of centrioles is initiated by an assembly mechanism that first synthesizes the ninefold symmetrical cartwheel and subsequently leads to a stable cylindrical microtubule ...
Thomas H. Giddings, Mark Winey, Osborn, DP, Chad G. Pearson, Philip L. Beales, Beales, PL, Giddings, TH, Winey, M, Pearson, CG, Daniel P.S. Osborn   +9 more
core   +1 more source

Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome

Frontiers in Genetics, 2022
Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in ...
Laura Moreno-Leon, Marco A. Quezada-Ramirez, Evan Bilsbury, Courtney Kiss, Andrea Guerin, Hemant Khanna   +5 more
doaj   +1 more source

Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies

JCI Insight, 2022
Ciliopathies are a class of genetic diseases resulting in cilia dysfunction in multiple organ systems, including the olfactory system. Currently, there are no available curative treatments for olfactory dysfunction and other symptoms in ciliopathies. The
Chao Xie, Julien C. Habif, Kirill Ukhanov, Cedric R. Uytingco, Lian Zhang, Robert J. Campbell, Jeffrey R. Martens   +6 more
doaj   +1 more source

ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

Frontiers in Cell and Developmental Biology, 2021
In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line.
María Álvarez-Satta, María Álvarez-Satta, Mauro Lago-Docampo, Mauro Lago-Docampo, Brais Bea-Mascato, Brais Bea-Mascato, Carlos Solarat, Carlos Solarat, Sheila Castro-Sánchez, Sheila Castro-Sánchez, Søren T. Christensen, Diana Valverde, Diana Valverde   +12 more
doaj   +1 more source

Ciliary Genes in Renal Cystic Diseases

Cells, 2020
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska   +1 more
doaj   +1 more source

Sperm dysfunction and ciliopathy [PDF]

Reproductive Medicine and Biology, 2015
AbstractSperm motility is driven by motile cytoskeletal elements in the tail, called axonemes. The structure of axonemes consists of 9 + 2 microtubules, molecular motors (dyneins), and their regulatory structures. Axonemes are well conserved in motile cilia and flagella through eukaryotic evolution.
Kazuo, Inaba, Katsutoshi, Mizuno
openaire   +2 more sources