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Congenital Factor VII Deficiency: A Case Study of Four Family Members.
Cureus
December 2024
Hematology, Avicenna Military Hospital, Marrakesh, MAR.
Congenital factor VII (FVII) deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by molecular and clinical heterogeneity. This article reports four Moroccan cases of FVII deficiency within the same family, two of which were associated with Gilbert's syndrome. The index case was a 15-year-old girl with a history of menorrhagia and jaundice.
View Article and Find Full Text PDFEvaluation of IRF7 mRNA and its Association with Promoter Methylation in Kashmiri (North-Indian) Patients with Systemic Sclerosis: A Case-Control Study.
Mediterr J Rheumatol
December 2024
Department of Immunology & Molecular Medicine.
Introduction: The interferon regulatory factor 7 (IRF7), a member of the IRF family of transcription factors, plays a major role in the regulation of numerous aspects of an immune response and has increasingly been surveyed to determine the aetiology and pathogenesis of systemic sclerosis (SSc). Objective: This study aimed to investigate the transcriptional levels of IRF7 mRNA in peripheral blood mononuclear cells (PBMCs) and the impact of promoter methylation on IRF7 mRNA expression in SSc patients compared to healthy controls.
Methods: PBMCs were obtained from confirmed 40 naïve SSc cases and 20 healthy controls for IRF-7 expression and methylation analysis.
Challenges faced by women oncologists in Africa: a mixed methods study.
BMJ Oncol
March 2024
Medicine, St. Michael's Hospital, University of Toronto, Toronto, Toronto, Canada.
Objective: Recent studies have identified challenges facing women oncologists in Western contexts. However, similar studies in Africa have yet to be conducted. This study sought to determine the most common and substantial challenges faced by women oncologists in Africa and identify potential solutions.
View Article and Find Full Text PDFUnveiling 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 PDFCharacterization and genome analysis of lytic Vibrio phage VPK8 with potential in lysing Vibrio parahaemolyticus isolates from clinical and seafood sources.
Virol J
January 2025
Division of Biological Science, Faculty of Science, Prince of Songkla University, Hat Yai, Songkhla, 90110, Thailand.
Background: Vibrio parahaemolyticus is a marine bacterium causing seafood-associated gastrointestinal illness in humans and acute hepatopancreatic necrosis disease (AHPND) in shrimp. Bacteriophages have emerged as promising biocontrol agents against V. parahaemolyticus.
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