• We suspect that genes or loci that contribute to coronary artery disease (CAD) may also play a role in the pathogenesis of gout, since hyperuricaemia leads to gout, and serum uric acid (SUA) levels are potential risk factors for CAD. (her2signaling.com)
  • INK4 locus is located on human chromosome 9p21 region and encodes three tumor suppressor genes, p15, p16 and ARF. (esmo.org)
  • So far, we revealed that a long non-coding RNA (lncRNA), ANRIL, transcribed from INK4 locus represses the transcription of p15 and p16 genes. (esmo.org)
  • The expression analysis of INK4 locus genes was performed by quantitative reverse transcription-polymerase chain reaction (Q-RT-PCR). (esmo.org)
  • This result strengthens support for the hypothesis that shared susceptibility genes within this chromosomal locus might be involved in the pathogenesis of both CHD and gAgP. (biomedcentral.com)
  • This leads to transcriptional de-repression of PRC1-target genes and mitotic chromosome segregation errors. (escholarship.org)
  • The CDKN2A/B locus contains genes encoding cell cycle inhibitors, including p16 Ink4a , which have not yet been implicated in the control of hepatic glucose homeostasis. (diabetesjournals.org)
  • Recent studies by the IGAP consortium have identified over 27 new susceptibility loci for AD. (cardiff.ac.uk)
  • These similarities point towards the possibility that both diseases have common underlying pathogenic mechanisms, modulated by shared genetic susceptibility loci. (biomedcentral.com)
  • It has been hypothesized that inactivation of the RASSF1A tumor suppressor facilitates K-RAS-mediated transformation by uncoupling it from apoptotic pathways such as the Hippo pathway. (cancerindex.org)
  • This provokes tumor cell-intrinsic inflammatory signaling, mediated by aberrant activation of the cGAS-STING pathway. (escholarship.org)
  • We demonstrate here that GSK-3 maintains the MLL leukemia stem cell transcriptional program by promoting the conditional association of CREB and its coactivators TORC and CBP with homedomain protein MEIS1, a critical component of the MLL-subordinate program, which in turn facilitates HOX-mediated transcription and transformation. (stanford.edu)
  • An Improved Protocol for Agrobacterium -Mediated Transformation in Subterranean Clover ( Trifolium subterraneum L. (mdpi.com)
  • All studies reported a strong association of a region of elevated linkage disequilibrium (LD) on human chromosome 9p21.3 with CHD. (biomedcentral.com)
  • Mutations in SPAG8 were not encountered in 34 other unexplained ALS pedigrees, including 1 with linkage to chromosome 9p13.223.3. (cdk-receptor.com)
  • The shared haplotype containing the SPAG8 variant selleck products in this small pedigree was 22.7 Mb and overlapped with the core 9p21 linkage locus for ALS and frontotemporal dementia. (cdk-receptor.com)
  • GAS5 is found on chromosome 1q25.1, with the gene containing 12 exons across a 4.087 kb region, coding for 29 different GAS5 splicing variants [ 11 ]. (hindawi.com)
  • ANRIL associates with polycomb protein complexes and recruits them on INK4 locus, leading to the transcriptional repression. (esmo.org)
  • In this study, we showed that LION is involved in the transcriptional regulation of INK4 locus and cell proliferation. (esmo.org)
  • Q-RT-PCR analysis showed that silencing LION increases the p15 and p16 mRNA, suggesting that LION is involved in the transcriptional repression of INK4 locus. (esmo.org)
  • We now report confirmation of this locus in congenic strains carrying the MOLF-derived susceptibility allele in the C57BL/6J-Ldlr Ϫ/Ϫ genetic background. (scite.ai)
  • No prior knowledge of gene or gene effects is necessary, but the genetic locus must have sufficient impact on the disease susceptibility to be detectable. (scialert.net)
  • In addition, a number of different genetic determinants of IS risk have been identified in genome-wide association studies, with single-nucleotide polymorphisms (SNPs) in 9p21, PITX2, HDAC9, ABO, NINJ2, ALDH2, and TSPAN2, all being linked with stroke susceptibility [ 2 ]. (hindawi.com)
  • As for AgP, it has been known for a long time that CHD is strongly influenced by genetic factors [ 6 ], but it was not until recently that genetic risk loci contributing to the development of the disease were identified. (biomedcentral.com)
  • It is possible that each of these mechanisms contributes to the high mutation rate of STRs, but strand slippage is the mechanism proposed for generating most observed mutations in STR loci [ 19 ]. (biomedcentral.com)
  • Interestingly, comparative mapping revealed that the Athsq1 congenic interval contains the mouse region homologous to a widely-replicated CHD locus on human chromosome 9p21. (scite.ai)
  • Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
  • Comparative biochemical studies of rapamycin and wortmannin on transforming growth factor-beta 1 (TGF-beta1)-mediated G(1)-S cell cycle progression in C3H-10T1/2 embryonic fibroblasts. (janechin.net)
  • The single nucleotide polymorphism (SNP) rs1333049 (C/ G) on chromosome 9p21 has been implicated in previous studies to be associated with CAD. (her2signaling.com)
  • Recent genome-wide association studies have revealed strong associations between the CDKN2A/B locus and T2D risk. (diabetesjournals.org)
  • Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. (biomedcentral.com)
  • Because both loci influence transforming growth factor beta (TGF-beta) signaling, we performed a genomic pathway analysis that showed an association between the TGF-beta pathway and NPG (permuted p = 0.009). (prolekarniky.cz)
  • Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)
  • A novel rare coding variant in SPAG8 on chromosome 9p13.3 segregated with the disease and was not observed in controls. (cdk-receptor.com)
  • Methods and Results-We previously identified atherosclerosis susceptibility QTL (Athsq1) on chromosome 4 acting independently of systemic risk factors. (scite.ai)
  • The results of a bone marrow transplantation experiment suggested that both accelerated lesion development and versican accumulation are mediated, at least in part, by macrophages. (scite.ai)
  • Here we show that missegregation of mitotic chromosomes, their sequestration in micronuclei 5,6 and subsequent rupture of the micronuclear envelope 7 profoundly disrupt normal histone post-translational modifications (PTMs), a phenomenon conserved across humans and mice, as well as in cancer and non-transformed cells. (escholarship.org)
  • we tested the hypothesis that the 9p21 risk locus promotes atherosclerosis by examining the association between rs10757278 and coronary artery disease (CAD) severity and progression determined by semi-quantitative angiographic scores. (nih.gov)
  • Single BCL2 apoptosis regulator (BCL2) gene mutation and 9p21 copy-number deletions including S-methyl-5'-thioadenosine phosphorylase (MTAP) deficiency were identified as key characteristics for high sensitivity to satraplatin. (iiarjournals.org)
  • One of these brilliant chemical substances, Nutlin-3 , adheres HDM2 inside p53-binding bank account, effectively dislodging p53 from HDM2 as well as inducting p53 result, which prevents progress along with triggers p53- mediated apoptosis within leukemias (Several, 11-14). (immune-source.com)
  • The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. (beds.ac.uk)
  • 8. Quantification of hprt gene deletions mediated by illegitimate V(D)J recombination in peripheral blood cells of humans. (nih.gov)
  • 12. Gestational age and gender-specific in utero V(D)J recombinase-mediated deletions. (nih.gov)
  • 20. Prevalent involvement of illegitimate V(D)J recombination in chromosome 9p21 deletions in lymphoid leukemia. (nih.gov)
  • We applied Transformation-Associated Recombination (TAR) cloning, a versatile technique for large DNA manipulation, to selectively isolate the coronary artery disease (CAD) interval sequence within the 9p21.3 chromosome locus from a patient with coronary artery disease and normal individuals. (nih.gov)
  • All studies reported a strong association of a region of elevated linkage disequilibrium (LD) on human chromosome 9p21.3 with CHD. (biomedcentral.com)
  • This result strengthens support for the hypothesis that shared susceptibility genes within this chromosomal locus might be involved in the pathogenesis of both CHD and gAgP. (biomedcentral.com)
  • These similarities point towards the possibility that both diseases have common underlying pathogenic mechanisms, modulated by shared genetic susceptibility loci. (biomedcentral.com)
  • GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. (sun.ac.za)
  • 4. V(D)J recombinase-mediated deletion of the hprt gene in T-lymphocytes from adult humans. (nih.gov)
  • 7. V(D)J recombinase-like activity mediates hprt gene deletion in human fetal T-lymphocytes. (nih.gov)
  • 14. DNA sequence analysis of interlocus recombination between the human T-cell receptor gamma variable (GV) and beta diversity-joining (BD/BJ) sequences on chromosome 7 (inversion 7). (nih.gov)
  • Zhong Y, Wang J, Henderson MJ, Yang P, Hagen BM, Siddique T , Vogel BE, Deng HX, Fang S . Nuclear export of misfolded SOD1 mediated by a normally buried NES-like sequence reduces proteotoxicity in the nucleus. (neurotree.org)
  • 1. A human lymphoid leukemia cell line with a V(D)J recombinase-mediated deletion of hprt. (nih.gov)
  • Here, we explored the role and underlying mechanisms of circRNA antisense non-coding RNA in the INK4 locus (circ_ANRIL) in oxygen-glucose deprivation and reoxygenation (OGD/R)-induced cell injury. (biomedcentral.com)
  • Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. (sun.ac.za)
  • 3. V(D)J recombinase-mediated HPRT mutations in peripheral blood lymphocytes of normal children. (nih.gov)