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Mutations Causing X-Linked Recessive Oligodontia with Variable Expression.
Genes (Basel)
December 2024
Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea.
Background/objectives: The ectodysplasin A () gene, a member of the tumor necrosis factor ligand superfamily, is involved in the early epithelial-mesenchymal interaction that regulates ectoderm-derived appendage formation. Numerous studies have shown that mutations in the gene can cause X-linked ectodermal dysplasia (ED) and non-syndromic oligodontia (NSO). Accordingly, this study aimed to identify the causative genetic mutations of the gene.
View Article and Find Full Text PDFEpithelial mesenchymal transition and cancer stem cell markers in oral epithelial dysplasia and oral squamous cell carcinoma.
Pol J Pathol
January 2025
Department of Biology, Faculty of Dentistry, Gazi University, Ankara, Turkey.
The role of cancer stem cells (CSC) in oral cancer is widely accepted. Yet, the existence of CSC in dysplastic tissue and the molecular pathways of progression from dysplasia to malignancy remain to be explored. Our retrospective study aimed to analyze the presence of CSC in oral epithelial dysplasia and oral squamous cell carcinoma (OSCC) concerning two epithelial-mesenchymal transition markers: Snail and E-cadherin.
View Article and Find Full Text PDFPlacental mesenchymal dysplasia in a monochorionic-diamniotic twin pregnancy complicated with hydrops fetalis-with a review of literature.
Eur J Obstet Gynecol Reprod Biol
January 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara Bilkent City Hospital, Ankara, Turkey; University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
Placental mesenchymal dysplasia (PMD) is a rare placental pathology that sonographically mimics gestational trophoblastic diseases. However, mesenchymal dysplasia can be distinguished from other conditions by the presence of villous edema and the absence of trophoblastic proliferation in the placental tissue. This pathology has been demonstrated to be associated with fetal growth restriction, Beckwith-Wiedemann syndrome, some chromosomal abnormalities and intrauterine fetal demise.
View Article and Find Full Text PDFUnlocking the Therapeutic Code of Mesenchymal Stromal Cells.
Am J Respir Crit Care Med
January 2025
Cardiovascular Research Institute (CVRI), University of San Francisco, Medicine and Anesthesia, San Francisco, California, United States.
ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.
Adv Sci (Weinh)
January 2025
Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University, Jiangsu, 210029, China.
Patellar dysplasia (PD) can cause patellar dislocation and subsequent osteoarthritis (OA) development. Herein, a novel ABCA6 mutation contributing to a four-generation family with familiar patellar dysplasia (FPD) is identified. In this study, whole exome sequencing (WES) and genetic linkage analysis across a four-generation lineage presenting with six cases of FPD are conducted.
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