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http://dx.doi.org/10.1038/s44276-023-00031-9 | DOI Listing |
J Bone Miner Res
September 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States.
Autosomal Dominant Osteopetrosis (ADO) is a rare, osteosclerotic disorder usually caused by missense variants in the CLCN7 gene, resulting in impaired osteoclastic bone resorption. Penetrance is incomplete and disease severity varies widely, even among relatives within the same family. Although ADO can cause visual loss, osteonecrosis, osteomyelitis, and bone marrow failure, the most common complication of ADO is fracture.
View Article and Find Full Text PDFHum Immunol
September 2025
Human Molecular Genetics Lab, Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram, Kerala, India. Electronic address:
Non-syndromic hearing loss (NSHL) is a common sensory disorder with a multifactorial origin, involving both genetic and environmental components. Its genetic basis shows significant variability and incomplete penetrance across populations. Environmental factors, especially TORCH infections and sterile inflammation, may contribute to NSHL by triggering inflammatory cascades.
View Article and Find Full Text PDFWorld J Urol
September 2025
Department of Urology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Introduction: Percutaneous nephrolithotomy (PCNL) has undergone numerous technological innovations recently that make it even less invasive, but global adoption of these innovations remains unclear. This study sought to compare the effect of region and education on the penetrance of recent advances in PCNL worldwide.
Methods: An anonymous 32-item survey was developed and distributed via the Endourological Society's Twitter/X account in November 2023.
Bioorg Chem
August 2025
Affiliated Hospital of Jinggangshan University, Jiangxi Province Key Laboratory of Organ Development and Epigenetics, Clinical Medical Research Center, College of Traditional Chinese Medicine and Pharmacy, Jinggangshan University, Ji'an 343009, China. Electronic address:
Epilepsy is one of the most common neurological disorders and presents various obstacles to the fulfilling lives of people. Histamine H receptors (HR) antagonists are becoming a promising therapeutic approach for epilepsy. In this paper, a series of novel nonimidazole HR antagonists have been designed, and synthesized.
View Article and Find Full Text PDF