dc.contributor.author | Koufaris, Costas | en |
dc.contributor.author | Papagregoriou, Gregory N. | en |
dc.contributor.author | Kousoulidou, Ludmila | en |
dc.contributor.author | Moutafi, Maria | en |
dc.contributor.author | Tauber, Maïthé Thérèse | en |
dc.contributor.author | Jouret, Béatrice | en |
dc.contributor.author | Kieffer, Isabelle | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Tanteles, George A. | en |
dc.contributor.author | Anastasiadou, Violetta C. | en |
dc.contributor.author | Patsalis, Philippos C. | en |
dc.contributor.author | Sismani, Carolina | en |
dc.creator | Koufaris, Costas | en |
dc.creator | Papagregoriou, Gregory N. | en |
dc.creator | Kousoulidou, Ludmila | en |
dc.creator | Moutafi, Maria | en |
dc.creator | Tauber, Maïthé Thérèse | en |
dc.creator | Jouret, Béatrice | en |
dc.creator | Kieffer, Isabelle | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Tanteles, George A. | en |
dc.creator | Anastasiadou, Violetta C. | en |
dc.creator | Patsalis, Philippos C. | en |
dc.creator | Sismani, Carolina | en |
dc.date.accessioned | 2019-11-04T12:52:14Z | |
dc.date.available | 2019-11-04T12:52:14Z | |
dc.date.issued | 2015 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53207 | |
dc.description.abstract | MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, MIR873 and MIR876, in a patient with craniofacial abnormalities - in particular macrocephaly and hypertelorism - and learning difficulties. Subsequent analysis revealed that the microRNAs affected by this de novo microdeletion form a mammalian-lineage, neuronal tissue-enriched cluster. In addition, bioinformatic analysis and experimental data indicate that miR-873 is involved in the regulation of the Hedgehog signaling, an essential pathway involved in craniofacial patterning and differentiation. Collectively these observations are consistent with a role of the miR-873/miR-876 microRNA cluster in physiological cranial bone development and indicate that mutations affecting these microRNAs could be a rare cause of developmental defect in humans. © 2015 Elsevier B.V. | en |
dc.source | Gene | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84924532864&doi=10.1016%2fj.gene.2015.02.018&partnerID=40&md5=91106108c001579a03544e2b31b639c0 | |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | controlled study | en |
dc.subject | priority journal | en |
dc.subject | genetic association | en |
dc.subject | unclassified drug | en |
dc.subject | signal transduction | en |
dc.subject | Article | en |
dc.subject | metabolism | en |
dc.subject | molecular genetics | en |
dc.subject | human cell | en |
dc.subject | microRNA | en |
dc.subject | genetics | en |
dc.subject | Base Sequence | en |
dc.subject | gene mutation | en |
dc.subject | Molecular Sequence Data | en |
dc.subject | Hedgehog | en |
dc.subject | Hedgehog Proteins | en |
dc.subject | sonic hedgehog protein | en |
dc.subject | gene deletion | en |
dc.subject | MicroRNAs | en |
dc.subject | learning disorder | en |
dc.subject | membrane protein | en |
dc.subject | nucleotide sequence | en |
dc.subject | chromosome deletion | en |
dc.subject | DNA sequence | en |
dc.subject | gene cluster | en |
dc.subject | craniofacial malformation | en |
dc.subject | Erinaceidae | en |
dc.subject | bioinformatics | en |
dc.subject | growth, development and aging | en |
dc.subject | sequence homology | en |
dc.subject | Sequence Deletion | en |
dc.subject | sequence alignment | en |
dc.subject | Sequence Analysis, DNA | en |
dc.subject | Mammalia | en |
dc.subject | embryology | en |
dc.subject | Nerve Tissue Proteins | en |
dc.subject | Body Patterning | en |
dc.subject | morphogenesis | en |
dc.subject | multigene family | en |
dc.subject | cell line | en |
dc.subject | Alexander disease | en |
dc.subject | chromosome 9p | en |
dc.subject | comparative genomic hybridization | en |
dc.subject | Craniofacial | en |
dc.subject | Developmental defect | en |
dc.subject | Haploinsufficiency | en |
dc.subject | hypertelorism | en |
dc.subject | Learning Disorders | en |
dc.subject | LINGO2 protein | en |
dc.subject | Megalencephaly | en |
dc.subject | microRNA 873 | en |
dc.subject | microRNA 876 | en |
dc.subject | MiR-873 | en |
dc.subject | MiR-876 | en |
dc.subject | MIRN873 microRNA, human | en |
dc.subject | MIRN876 microRNA, human | en |
dc.subject | nerve protein | en |
dc.subject | neuroblastoma cell line | en |
dc.subject | skull | en |
dc.title | Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1016/j.gene.2015.02.018 | |
dc.description.volume | 561 | |
dc.description.startingpage | 95 | |
dc.description.endingpage | 100 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :5</p> | en |
dc.source.abbreviation | Gene | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |