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Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Knockout Mice.
Cells
November 2024
Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, INSERM UMR 1163, Université Paris Cité, 24 Boulevard du Montparnasse, 75015 Paris, France.
Adenosine deaminase acting on RNA 1 (ADAR1) is the principal enzyme for the adenosine-to-inosine RNA editing that prevents the aberrant activation of cytosolic nucleic acid sensors by endogenous double stranded RNAs and the activation of interferon-stimulated genes. In mice, the conditional neural crest deletion of reduces the survival of melanocytes and alters the differentiation of Schwann cells that fail to myelinate nerve fibers in the peripheral nervous system. These myelination defects are partially rescued upon the concomitant removal of the Mda5 antiviral dsRNA sensor in vitro, suggesting implication of the Mda5/Mavs pathway and downstream effectors in the genesis of mutant phenotypes.
View Article and Find Full Text PDFFoetal achondroplasia: Prenatal diagnosis, outcome and perspectives.
J Gynecol Obstet Hum Reprod
December 2024
URP FETUS 7328, Federation for Research into Innovative Explorations and Therapeutics in Utero, and LUMIERE Platform, University of Paris Cité, Paris, France; Department of Obstetrics and Gynecology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France. Electronic address:
Background: Achondroplasia, due to a specific pathogenic variant in FGFR3, is the most common viable skeletal dysplasia and the diagnosis is mostly done in the prenatal period. Since 2021, the use of Vosoritide, a specific treatment for achondroplasia, validated in phase 3 placebo-controlled trials, has been recommended to significantly increase the height of children and infants. In the light of these new therapeutic prospects, a complete understanding of the pathophysiology of skeletal damages occurring from foetal life is required.
View Article and Find Full Text PDFLess-Invasive Technique for Non-stabilized Mandibular Fracture in Mouse Models.
J Vis Exp
September 2024
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute, Université de Paris Cité.
Non-stabilized fractures can be made at mandibular sites in mice, thus making it possible to analyze bone repair using an endochondral ossification mode. To most accurately reflect this process in vivo, it is necessary to have a standardized protocol to avoid excessive bone loss and soft tissue damage, particularly at the mandibular site, an anatomical site characterized by minimal access. To our knowledge, we describe for the first time a less-invasive protocol of non-stabilized mandibular fracture in mice.
View Article and Find Full Text PDFRegulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Genet Med Open
May 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.
Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.
Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.
Insights into Craniofacial Development and Anomalies: Exploring Fgf Signaling in Zebrafish Models.
Curr Osteoporos Rep
June 2024
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Université Paris Cité, INSERM UMR 1163, Imagine Institut, 24 boulevard Montparnasse, 75015, Paris, France.
Purpose Of Review: To illustrate the value of using zebrafish to understand the role of the Fgf signaling pathway during craniofacial skeletal development under normal and pathological conditions.
Recent Findings: Recent data obtained from studies on zebrafish have demonstrated the genetic redundancy of Fgf signaling pathway and have identified new molecular partners of this signaling during the early stages of craniofacial skeletal development. Studies on zebrafish models demonstrate the involvement of the Fgf signaling pathway at every stage of craniofacial development.
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