Nance-Horan syndrome (NHS) or X-linked cataract dental syndrome is an extremely rare condition affecting multiple systems. It is characterized by ophthalmological, dental, and facial anomalies. Individuals display facial dysmorphism, mandibular prognathism, congenital cataract, and strabismus. Common dental findings include notching of incisors, supernumerary teeth, and mulberry molars. This article aims to provide an update on NHS while reporting previously unreported findings such as talon's cusp and taurodontism.
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http://dx.doi.org/10.4103/ccd.ccd_490_18 | DOI Listing |
Genes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFFront Microbiol
January 2025
Department of Microbiology, Faculty of Medicine, Shimane University, Izumo, Japan.
Current treatments for hepatitis B virus (HBV), such as interferons and nucleic acid analogs, have limitations due to side effects like depression and the development of drug-resistant mutants, highlighting the need for new therapeutic approaches. In this study, we identified microRNA-3145 (miR-3145) as a host-derived miRNA with antiviral activity that is upregulated in primary hepatocytes during HBV infection. The expression of its precursor, pri-miR-3145, increased in response to the the virus infection, and miR-3145 downregulated the hepatitis B virus S (HBS) antigen and hepatitis B virus X (HBX), thereby inhibiting viral replication.
View Article and Find Full Text PDFNat Commun
January 2025
Laboratory of Structural Biology of the Cell (BIOC), CNRS UMR7654, École Polytechnique, Institut Polytechnique de Paris, Palaiseau, France.
The molecular mechanisms underlying cell migration remain incompletely understood. Here, we show that knock-out cells for NHSL3, the most recently identified member of the Nance-Horan Syndrome family, are more persistent than parental cells in single cell migration, but that, in wound healing, follower cells are impaired in their ability to follow leader cells. The NHSL3 locus encodes several isoforms.
View Article and Find Full Text PDFJ Proteome Res
December 2024
College of Animal Sciences, Zhejiang University, Hangzhou, 310058, China.
The species identification of leather artifacts is of great significance for studying the use and spread of ancient leathers; however, the absence of effective detection methods remains an obstacle. Here, we performed a shotgun proteomic analysis to identify the protein composition of ancient leather artifacts. Based on the Swiss-Prot database, 154 proteins were identified.
View Article and Find Full Text PDFBMC Oral Health
October 2024
Department of Stomatology, 2nd Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic.
Background: The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families.
Case Presentation: Dental examinations were carried out.
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