Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804188 | PMC |
http://dx.doi.org/10.1111/trf.17072 | DOI Listing |
J Orthop Translat
January 2025
Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Rd, Nanjing, 210029, China.
Int Immunopharmacol
January 2025
Department of Transfusion Medicine, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou 225300, Jiangsu, China. Electronic address:
Objective: The objective of this study was to rigorously investigate and elucidate the genetic mechanisms underlying the formation of the RH blood group in a specific case and to systematically analyse the RH blood group genes among the family members of the proband.
Methods: Serological methods were used to determine the RH blood group phenotype of the proband. To elucidate the underlying genetic mechanism responsible for the RH phenotype, a comprehensive approach was undertaken, including RHCE genotyping, sequencing of RHD and RHCE genes, and exon sequencing of RHAG.
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 PDFJACC 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 PDFAutophagy
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 PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!