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Unveiling a pathogenic gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing.
Exp Ther Med
March 2025
Human Genetics Institute 'Dr Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México.
Fanconi anemia (FA) is the most common hereditary bone marrow failure syndrome, with an incidence of 1 in 5,000,000. This disease is caused by an alteration in one of the 23 genes associated with the FA/BRCA DNA repair pathway, which is responsible for repairing interstrand bridges generated during homologous recombination. FA has been associated with a predisposition to other types of neoplasm.
View Article and Find Full Text PDFWhole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer.
J Ovarian Res
January 2025
Department of Medical Genetics, National Taiwan University Hospital, 19F, No. 8, Chung-Shan South Road, Taipei City, Taiwan.
Background: The homologous recombination deficiency (HRD) test is an important tool for identifying patients with epithelial ovarian cancer (EOC) benefit from the treatment with poly(adenosine diphosphate-ribose) polymerase inhibitor (PARPi). Using whole exome sequencing (WES)-based platform can provide information of gene mutations and HRD score; however, the clinical value of WES-based HRD test was less validated in EOC.
Methods: We enrolled 40 patients with EOC in the training cohort and 23 in the validation cohort.
EZH2 serves as a viable therapeutic target for myeloma-induced osteolytic bone destruction.
Nat Commun
January 2025
Cancer Research Center, School of Medicine, Xiamen University, Xiamen, China.
Myelomatous bone disease is a complication characterized by lytic bone lesions, reduced bone formation, bone pain, and increased fracture risk. Understanding these underlying mechanisms is crucial for developing effective therapeutic approaches. Here we show the role of enhancer of zeste homolog 2 (EZH2) in bone lesions induced by myeloma cells.
View Article and Find Full Text PDFNotoginsenoside R1 alleviates blue light-induced corneal injury and wound healing delay by binding to and inhibiting TRIB1.
Phytomedicine
January 2025
Department of Ophthalmology, The First Affiliated Hospital of Zhejiang University, Hangzhou, Zhejiang, China. Electronic address:
Background: With the escalating use of digital devices, blue light (BL) exposure has emerged as a critical concern due to its potential to cause ocular damage. This study explores the protective effects of notoginsenoside R1 (NR1), a bioactive compound from Panax notoginseng (Burkill) F.H.
View Article and Find Full Text PDFFunctional analysis of the PcCDPK5 gene in response to allelopathic substances on p-hydroxybenzoic acid (p-HBA) stress in patchouli.
Ecotoxicol Environ Saf
January 2025
School of Breeding and Multiplication (Sanya Institute of Breeding and Multiplication), School of Tropical Agriculture and Forestry, Hainan University, Sanya 572025, China. Electronic address:
Calcium-dependent protein kinase (CDPK) is an important mediator for Ca signal recognition and transduction, playing a crucial role in plant stress response. Previous studies have shown that PcCDPK5 may be involved in the response of patchouli to p-hydroxybenzoic acid (p-HBA) stress. In this study, we further found that the subcellular localization of PcCDPK5 protein is in the cytoplasm, and its gene expression is closely related to continuous cropping (CC) and p-HBA stress.
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