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RHCE genotyping using next generation sequencing: Allele specific reference sequences.
Transfusion
December 2024
School of Biomedical Sciences, Faculty of Health, University of Plymouth, Plymouth, UK.
Background: The Rh blood group system (ISBT004) is encoded by two homologous genes, RHD and RHCE. Polymorphism in these two genes gives rise to 56 antigens, which are highly immunogenic and clinically significant. This study extended previous work on the establishment of RHD allele specific reference sequences using next generation sequencing (NGS) with the Ion Personal Genome Machine (Ion PGM) to sequence the complete RHCE gene.
View Article and Find Full Text PDFRheumatic Heart Disease and Endomyocardial Fibrosis: A Complex Novel Case of Heart Failure.
JACC Case Rep
November 2024
Division of Cardiology, Department of Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
Rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF) are major causes of cardiac disease in low-income countries. We present a case of a patient with mitral stenosis and restrictive cardiomyopathy, initially attributed to severe RHD, but with disease progression despite valve replacement, likely secondary to previously undiagnosed EMF.
View Article and Find Full Text PDFCKAP4 in hepatocellular carcinoma: competitive RETREG1/FAM134B binding, reticulophagy regulation, and cancer progression.
Autophagy
December 2024
Hepatic Surgery Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, P.R. China.
RETREG1/FAM134B is known for its role as a reticulophagy receptor. Our previous study established that RETREG1 is upregulated in hepatocellular carcinoma (HCC) and contributes to disease progression by activating the AKT signaling pathway. However, the specific mechanisms underlying the elevated expression of RETREG1 in HCC remain unclear.
View Article and Find Full Text PDFThe impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
J Transl Med
December 2024
Department of Physiology, Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.
Cleidocranial Dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities and dental anomalies, primarily caused by variants in the RUNX2 gene. Understanding the spectrum of RUNX2 variants and their effects on CCD phenotypes is crucial for accurate diagnosis and management strategies. This systematic review aimed to comprehensively analyze the genotypic and phenotypic spectra of RUNX2 variants in CCD patients, assess their distribution across functional regions, and investigate genotype-phenotype correlations.
View Article and Find Full Text PDFAnalysis of the Correlation Between the Expression of T-Helper Type 17 Cell-Related Cytokines and Valve Damage in Rheumatic Heart Disease.
Cureus
October 2024
Internal Medicine Department, Shalamar Hospital, Lahore, PAK.
Introduction: Rheumatic heart disease (RHD) results from chronic inflammation and fibrosis of heart valves following untreated rheumatic fever, yet its immunopathology, particularly involving T helper 17 (Th17) cells and their cytokines, is not fully understood. Th17 cells are prominent drivers of inflammation and have been linked to various autoimmune diseases, suggesting their potential role in RHD-related valve damage. This study examines Th17-associated cytokines-interleukin (IL)-17, IL-6, IL-23, and IL-21-in RHD.
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