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Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis and other skeletal features.
HGG Adv
January 2025
Department of Surgery, Division of Orthopaedics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:
SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin Sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined.
View Article and Find Full Text PDFFocused Investigation of Facial Nerve Dysfunction After Mandibular Distraction Osteogenesis for Robin Sequence.
J Craniofac Surg
January 2025
Division of Plastic and Reconstructive Surgery, Children's National Hospital.
Facial nerve dysfunction (FND) is a well-recognized but poorly documented complication of mandibular distraction osteogenesis (MDO) for Robin sequence (RS). This study aims to document the authors' experiences with FND and identify risk factors associated with this adverse event. A retrospective review of a prospectively gathered database was performed to identify patients with RS who underwent MDO at the authors' institution from March 2016 to June 2023.
View Article and Find Full Text PDFMandibular Distraction Osteogenesis vs. Tracheostomy in the Management of Pierre Robin Sequence: A Systematic Review and Meta-Analysis.
Cleft Palate Craniofac J
January 2025
Department of Physiology and Medical Biochemistry, Faculty of Medicine, Airlangga University, Surabaya, Indonesia.
Objective: This study compares mandibular distraction osteogenesis (MDO) and tracheostomy in managing severe airway obstruction in patients with the Pierre Robin sequence (PRS).
Design: A systematic review and meta-analysis following PRISMA guidelines was performed. Literature searches were conducted across PubMed, ScienceDirect, Cochrane Library, Scopus, E.
CBCT-Based Analysis of Factors Influencing the Quality of New Bone Formation Following Mandibular Distraction Osteogenesis in Children With Pierre Robin Sequence.
J Craniofac Surg
January 2025
Department of Oral and Maxillofacial Surgery, Guangzhou Medical University Affiliated Women and Children's Medical Center, Guangzhou, China.
The aim of this study was to explore the factors influencing the quality of new bone formation after distraction osteogenesis in children with Pierre Robin sequence (PRS). Using cone-beam computed tomography (CBCT), bone density relative grayscale values of the region of new bone formation before and 3 to 4 months after mandibular distraction osteogenesis (MDO) were measured in 80 children with PRS, and correlation analysis was conducted with the potential clinical influencing factors of the children. CBCT reconstruction of the panoramic film showed that the new bone formation was good at 3 to 4 months after MDO.
View Article and Find Full Text PDFSpontaneous base flipping helps drive Nsp15's preferences in double stranded RNA substrates.
Nat Commun
January 2025
Molecular and Cellular Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, 111 T. W. Alexander Drive, Research Triangle Park, NC, 27709, USA.
Coronaviruses evade detection by the host immune system with the help of the endoribonuclease Nsp15, which regulates levels of viral double stranded RNA by cleaving 3' of uridine (U). While prior structural data shows that to cleave double stranded RNA, Nsp15's target U must be flipped out of the helix, it is not yet understood whether Nsp15 initiates flipping or captures spontaneously flipped bases. We address this gap by designing fluorinated double stranded RNA substrates that allow us to directly relate a U's sequence context to both its tendency to spontaneously flip and its susceptibility to cleavage by Nsp15.
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