Search Results - "Carels, Carine E."
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Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts
Published in Human genetics (01-01-2016)“…Orofacial clefts (OFCs) represent a large fraction of human birth defects and are one of the most common phenotypes affected by large copy number variants…”
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2
Targeting the redox balance in inflammatory skin conditions
Published in International Journal of Molecular Sciences (26-04-2013)“…Reactive oxygen species (ROS) can be both beneficial and deleterious. Under normal physiological conditions, ROS production is tightly regulated, and ROS…”
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3
Targeting fibroblast growth factor receptors causes severe craniofacial malformations in zebrafish larvae
Published in PeerJ (San Francisco, CA) (23-11-2022)“…A key pathway controlling skeletal development is fibroblast growth factor (FGF) and FGF receptor (FGFR) signaling. Major regulatory functions of FGF signaling…”
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Deletions and loss-of-function variants in TP63 associated with orofacial clefting
Published in European journal of human genetics : EJHG (01-07-2019)“…We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families…”
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Three-dimensional imaging methods for quantitative analysis of facial soft tissues and skeletal morphology in patients with orofacial clefts: a systematic review
Published in PloS one (01-04-2014)“…Current guidelines for evaluating cleft palate treatments are mostly based on two-dimensional (2D) evaluation, but three-dimensional (3D) imaging methods to…”
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6
Vitamin A and clefting: putative biological mechanisms
Published in Nutrition reviews (01-10-2011)“…Nutritional factors such as vitamin intake contribute to the etiology of cleft palate. Vitamin A is a regulator of embryonic development. Excess vitamin A can…”
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Published in European journal of human genetics : EJHG (01-09-2015)“…Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural,…”
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Curcumin-induced heme oxygenase-1 expression prevents H2O2-induced cell death in wild type and heme oxygenase-2 knockout adipose-derived mesenchymal stem cells
Published in International journal of molecular sciences (08-10-2014)“…Mesenchymal stem cell (MSC) administration is a promising adjuvant therapy to treat tissue injury. However, MSC survival after administration is often hampered…”
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Retinoic acid signalling in the development of the epidermis, the limbs and the secondary palate
Published in Differentiation (London) (01-12-2016)“…Retinoic acid (RA), the active derivative of vitamin A, is one of the major regulators of embryonic development, including the development of the epidermis,…”
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10
MicroRNAs in Palatogenesis and Cleft Palate
Published in Frontiers in physiology (04-04-2017)“…Palatogenesis requires a precise spatiotemporal regulation of gene expression, which is controlled by an intricate network of transcription factors and their…”
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Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts
Published in Human molecular genetics (01-03-2013)“…Orofacial clefts (OFC) are among the most common birth defects worldwide. The etiology of non-syndromic OFC is still largely unknown. During embryonic…”
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Effects of Remote Ischemic Preconditioning on Heme Oxygenase-1 Expression and Cutaneous Wound Repair
Published in International journal of molecular sciences (17-02-2017)“…Skin wounds may lead to scar formation and impaired functionality. Remote ischemic preconditioning (RIPC) can induce the anti-inflammatory enzyme heme…”
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Delayed cutaneous wound closure in HO‐2 deficient mice despite normal HO‐1 expression
Published in Journal of cellular and molecular medicine (01-12-2014)“…Impaired wound healing can lead to scarring, and aesthetical and functional problems. The cytoprotective haem oxygenase (HO) enzymes degrade haem into iron,…”
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14
Genomic approaches for studying craniofacial disorders
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-11-2013)“…Fast developing technologies in genomics have driven genetic studies of human diseases from classical candidate approaches toward hypothesis‐free and…”
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Retinoic acid effects on in vitro palatal fusion and WNT signaling
Published in European journal of oral sciences (01-12-2022)“…Retinoic acid is the main active vitamin A derivate and a key regulator of embryonic development. Excess of retinoic acid can disturb palate development in…”
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Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients
Published in Genes (23-10-2019)“…Orofacial clefts (OFCs) are the most frequent craniofacial birth defects. An orofacial cleft (OFC) occurs as a result of deviations in palatogenesis. Cell…”
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17
Tooth agenesis patterns in bilateral cleft lip and palate
Published in European journal of oral sciences (01-02-2010)“…Bartzela TN, Carels CEL, Bronkhorst EM, Rønning E, Rizell S, Kuijpers‐Jagtman AM. Tooth agenesis patterns in bilateral cleft lip and palate. Eur J Oral Sci…”
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MSX1 mutations and associated disease phenotypes: genotype-phenotype relations
Published in European journal of human genetics : EJHG (01-12-2016)“…The Msx1 transcription factor is involved in multiple epithelial-mesenchymal interactions during vertebrate embryogenesis. It has pleiotropic effects in…”
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Retinoic acid disrupts osteogenesis in pre-osteoblasts by down-regulating WNT signaling
Published in The international journal of biochemistry & cell biology (01-11-2019)“…•RA inhibits differentiation and mineralization of MC-3T3 pre-osteoblasts.•RA increases the expression of the osteogenic lineage factor RunX2.•RA decreases the…”
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A potential osteogenic role for microRNA-181a-5p during palatogenesis
Published in European journal of orthodontics (18-09-2023)“…Summary Background In a previous study, we found that the highly conserved hsa-miR-181a-5p is downregulated in palatal fibroblasts of non-syndromic cleft…”
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