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Genes of Predisposition to Childhood Beta-Cell Acute Lymphoblastic Leukemia in the Kazakh Population.
Asian Pac J Cancer Prev
August 2023
Republican Medical Genetic Consultation, Scientific Center of Obstetrics, Gynecology and Perinatology, 050020, 125 Dostyk Ave., Almaty, Kazakhstan.
Background: Today, acute lymphoblastic leukemia is one of the most common malignant diseases of the hematopoietic system. The genetic predisposition to ALL is not fully explored in various ethnic populations.
Objective: The study aimed to conduct a comparative analysis of the population frequencies of alleles and genotypes of polymorphic gene variants: immune regulation GATA3 (rs3824662); transcription and differentiation of B cells: ARID5B (rs7089424, rs10740055), IKZF1 (rs4132601); differentiation of hematopoietic cells: PIP4K2A (rs7088318); apoptosis: CEBPE (rs2239633), tumor suppressors: CDKN2A (rs3731249), TP53 (rs1042522); carcinogen metabolism: CBR3 (rs1056892), CYP1A1 (rs104894, rs4646903), according to genome-wide association studies analyses associated with the risk of developing pediatric beta-cell acute lymphoblastic leukemia (B-cell ALL), in an ethnically homogeneous population of Kazakhs with studied populations.
Human abdominal subcutaneous-derived active beige adipocytes carrying rs1421085 obesity-risk alleles exert lower thermogenic capacity.
Front Cell Dev Biol
June 2023
Laboratory of Cell Biochemistry, Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
White adipocytes store lipids, have a large lipid droplet and few mitochondria. Brown and beige adipocytes, which produce heat, are characterized by high expression of uncoupling protein (UCP) 1, multilocular lipid droplets, and large amounts of mitochondria. The rs1421085 T-to-C single-nucleotide polymorphism (SNP) of the human gene interrupts a conserved motif for ARID5B repressor, resulting in adipocyte type shift from beige to white.
View Article and Find Full Text PDF[Correlation between Gene SNP and MTX Resistance in Children with ALL].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
April 2023
Department of Pediatrics, General Hospital of Ningxia Medical University, Yinchuan 750000, Ningxia Hui Autonomous Region, China .E-mail:
Objective: To investigate the correlation between single-nucleotide polymorphism (SNP) of gene and resistance to methotrexate (MTX) in children with acute lymphoblastic leukemia (ALL).
Methods: A total of 144 children with ALL who were treated in General Hospital of Ningxia Medical University from January 2015 to November 2021 were enrolled and divided into MTX resistant group and non-MTX resistant group, with 72 cases in each group. Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) technology was used to measure the SNP of gene in all children and analyze its correlation with MTX resistant.
Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia.
Hum Mol Genet
October 2022
Center for Genetic Epidemiology, Department of Population and Public Health Sciences, University of Southern California, Los Angeles, CA 90033, USA.
Genome-wide association studies have identified a growing number of single nucleotide polymorphisms (SNPs) associated with childhood acute lymphoblastic leukemia (ALL), yet the functional roles of most SNPs are unclear. Multiple lines of evidence suggest that epigenetic mechanisms may mediate the impact of heritable genetic variation on phenotypes. Here, we investigated whether DNA methylation mediates the effect of genetic risk loci for childhood ALL.
View Article and Find Full Text PDFGenetic association of ARID5B with the risk of colorectal cancer within Jammu and Kashmir, India.
Genes Genet Syst
December 2021
School of Biotechnology, Shri Mata Vaishno Devi University.
Article Synopsis
- * Previous research has identified a connection between certain genetic variations (SNPs) in the ARID5B gene and increased CRC risk, yet the status of this association in north Indian populations remains unclear.
- * This study found that the SNP variant rs10740055 in the ARID5B gene significantly increases CRC risk, with a reported odds ratio of 3.35, suggesting that individuals carrying the A allele are at a higher risk; larger studies are recommended for further confirmation.
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