Search Results - "Casar Tena, Teresa"
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Resting cells rely on the DNA helicase component MCM2 to build cilia
Published in Nucleic acids research (10-01-2019)“…Abstract Minichromosome maintenance (MCM) proteins facilitate replication by licensing origins and unwinding the DNA double strand. Interestingly, the number…”
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Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors
Published in European journal of human genetics : EJHG (01-05-2019)“…Meier-Gorlin syndrome (MGS) is a rare, congenital primordial microcephalic dwarfism disorder. MGS is caused by genetic variants of components of the origin…”
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Left-right asymmetry in the light of TOR: An update on what we know so far
Published in Biology of the cell (01-09-2015)“…The internal left‐right (LR) asymmetry is a characteristic that exists throughout the animal kingdom from roundworms over flies and fish to mammals. Cilia,…”
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ATR promotes cilia signalling: links to developmental impacts
Published in Human molecular genetics (15-04-2016)“…Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwarfism disorder. Hitherto, the clinical…”
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Centrobin controls primary ciliogenesis in vertebrates
Published in The Journal of cell biology (02-04-2018)“…The BRCA2 interactor, centrobin, is a centrosomal protein that has been implicated in centriole duplication and microtubule stability. We used genome editing…”
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Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage
Published in Cell death & disease (09-09-2024)“…The WD repeat-containing protein 4 (WDR4) has repeatedly been associated with primary microcephaly, a condition of impaired brain and skull growth. Often,…”
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Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
Published in Human genetics (01-03-2017)“…GATA5 belongs to the GATA family of transcription factors characterized by highly evolutionarily conserved zinc-finger DNA-binding domains. Mouse models have…”
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The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5
Published in Scientific reports (13-09-2016)“…G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult…”
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Assessing Smoothened-mediated Hedgehog signaling in zebrafish
Published in Methods in cell biology (2016)“…Smoothened belongs to the class of atypical G protein-coupled receptors and serves as the transducing molecule in Hedgehog (Hh) signaling. Hh proteins comprise…”
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Chapter 8 - Assessing Smoothened-mediated Hedgehog signaling in zebrafish
Published in Methods in cell biology (01-01-2016)“…Smoothened belongs to the class of atypical G protein-coupled receptors and serves as the transducing molecule in Hedgehog (Hh) signaling. Hh proteins comprise…”
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11
Muscarinic receptors promote pacemaker fate at the expense of secondary conduction system tissue in zebrafish
Published in JCI insight (17-10-2019)“…Deterioration or inborn malformations of the cardiac conduction system (CCS) interfere with proper impulse propagation in the heart and may lead to sudden…”
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