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Comprehensive characterization of high-risk coding and non-coding single nucleotide polymorphisms of human CXCR4 gene.
PLoS One
December 2024
Infection Biology Laboratory, Department of Biochemistry and Molecular Biology, University of Dhaka, Dhaka, Bangladesh.
CXCR4, a chemokine receptor known as Fusin or CD184, spans the outer membrane of various human cells, including leukocytes. This receptor is essential for HIV infection as well as for many vital cellular processes and is implicated to be associated with multiple pathologies, including cancers. This study employs various computational tools to investigate the molecular effects of disease-vulnerable germ-line missense and non-coding SNPs of the CXCR4 gene.
View Article and Find Full Text PDFEffect of SDF-1 and CXCR4 gene variants on the development of diabetic kidney disease.
Int J Med Sci
November 2024
Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Article Synopsis
- * A study identified the SNP rs1801157, which increases DKD risk particularly in diabetic patients with early chronic kidney disease (CKD), while another SNP, rs266085, was linked to advanced DKD.
- * Results indicate that different gene polymorphisms affect renal function loss differently, and that specific variants may alter SDF-1/CXCR4 levels in kidney tissues from DKD patients.
Potential protective association of the AA genotype and a allele of CXCR4 rs2228014 polymorphism with COVID-19 severity in adult egyptians.
BMC Infect Dis
October 2024
Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Background: By the end of December 2019, a new coronavirus, termed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), emerged, and the cause of the disease was named coronavirus disease 2019 (COVID-19). Several genetic factors have been implicated in diverse responses to SARS-CoV-2 infection, such as the C-X-C chemokine receptor 4 (CXCR4) rs2228014 polymorphism, which has been previously studied in various diseases but has not been explored in the context of COVID-19 severity. The current study aimed to assess the association between the rs2228014 polymorphism in the CXCR4 gene and the severity of COVID-19, which has not been previously reported.
View Article and Find Full Text PDFComprehensive genetic analysis by targeted sequencing identifies risk factors and predicts patient outcome in Mantle Cell Lymphoma: results from the EU-MCL network trials.
Leukemia
December 2024
Second Medical Department, University Hospital Schleswig-Holstein, Kiel, Germany.
Recent studies highlighted genetic aberrations associated with prognosis in Mantle Cell lymphoma (MCL), yet comprehensive testing is not implemented in clinical routine. We conducted a comprehensive genomic characterization of 180 patients from the European MCL network trials by targeted sequencing of peripheral blood DNA using the EuroClonality(EC)-NDC assay. The IGH::CCND1 fusion was identified in 94% of patients, clonal IGH-V-(D)-J rearrangements in all, and 79% had ≥1 somatic gene mutation.
View Article and Find Full Text PDFInvolvement of CXCL10 rs4256246, CXCR4 rs2228014, CCR2 rs1799864 and CXCL16 rs2277680 in the Predisposition to Schizophrenia.
J Mol Neurosci
September 2024
Laboratory of Genetics, Biodiversity and Bioresource Valorization (LR11ES41), Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.
Article Synopsis
- This study investigates the role of specific chemokine gene polymorphisms (CXCL10, CXCR4, CCR2, CXCL16) in the development of schizophrenia (SCZ) among a Tunisian cohort.
- Findings reveal that the minor allele A of CXCL10 increases the risk of SCZ, particularly in paranoid patients with late-onset, while the mutated allele T of CXCR4 offers significant protection against the disorder, especially in males.
- Additional analyses link CCR2 and CXCL16 polymorphisms to clinical symptoms in disorganized patients, highlighting the need for further research to confirm these associations and understand their implications.
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