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Case report: A novel germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Calmette-Guerin osteomyelitis.
Front Immunol
January 2025
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.
Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state. Individuals with autosomal dominant STAT1 deficiency are more susceptible to intracellular bacteria, the hallmark of which is Mendelian susceptibility to mycobacterial diseases (MSMDs) that are associated with increased risks of invasive disease by weakly virulent mycobacteria. We report a novel heterozygous missense mutation in exon 23 of the STAT1 gene (NM_007315.
View Article and Find Full Text PDFAssociation of Fibrinogen Aα Thr312Ala (rs6050) Polymorphism with Venous Thrombosis and Chronic Thromboembolic Pulmonary Hypertension: A Meta-Analysis.
Clin Appl Thromb Hemost
January 2025
Department of Cardiology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Background: Venous thromboembolism (VTE) comprises deep vein thrombosis (DVT) and pulmonary embolism (PE). Chronic thromboembolic pulmonary hypertension (CTEPH) typically arises from acute pulmonary embolism. The pathogenesis of them involves multiple risk factors such as genetic predisposition.
View Article and Find Full Text PDFInteraction of genetics risk score and fatty acids quality indices on healthy and unhealthy obesity phenotype.
BMC Med Genomics
January 2025
Department of Community Nutrition, School of Nutritional Sciences and Dietetics, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
Background: The growth in obesity and rates of abdominal obesity in developing countries is due to the dietary transition, meaning a shift from traditional, fiber-rich diets to Westernized diets high in processed foods, sugars, and unhealthy fats. Environmental changes, such as improving the quality of dietary fat consumed, may be useful in preventing or mitigating the obesity or unhealthy obesity phenotype in individuals with a genetic predisposition, although this has not yet been confirmed. Therefore, in this study, we investigated how dietary fat quality indices with metabolically healthy obesity (MHO) or metabolically unhealthy obesity (MUO) based on the Karelis criterion interact with genetic susceptibility in Iranian female adults.
View Article and Find Full Text PDFAssociation of childhood maltreatment and adverse lifetime experiences with post-injury psychopathology: evidence from the China Severe Trauma Cohort.
BMC Med
January 2025
Med-X Center for Informatics, Sichuan University, Chengdu, China.
Background: Adverse life experiences have been associated with increased susceptibilities to psychopathology in later life. However, their impact on psychological responses following physical trauma remains largely unexplored.
Methods: Based on the China Severe Trauma Cohort, we conducted a cohort study of 2937 patients who were admitted to the Trauma Medical Center of West China Hospital between June 2020 and August 2023.
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
BMC Genomics
January 2025
International Institute of Molecular and Cell Biology in Warsaw, Laboratory of Zebrafish Developmental Genomics, Księcia Trojdena 4, Warsaw, 02-109, Poland.
Congenital heart disease (CHD) is a prevalent condition characterized by defective heart development, causing premature death and stillbirths among infants. Genome-wide association studies (GWASs) have provided insights into the role of genetic variants in CHD pathogenesis through the identification of a comprehensive set of single-nucleotide polymorphisms (SNPs). Notably, 90-95% of these variants reside in the noncoding genome, complicating the understanding of their underlying mechanisms.
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