• Proteins
  • In a nested case-control study of 839 prevalent breast cancer cases and 1040 controls (frequency matched to cases on year of birth in 5-year strata), we evaluated 19 SNPs in eight genes coding for base excision repair (BER), BRCA1 interacting proteins and growth regulatory pathways for associations with breast cancer risk. (aacrjournals.org)
  • For BRCA1 interacting proteins and BER genes, the p-values for trend were 0.008 and 0.09, respectively. (aacrjournals.org)
  • Purpose: Mutations in genes encoding proteins from the tri-snRNP complex of the spliceosome account for more than 12% of cases of autosomal dominant retinitis pigmentosa (adRP). (ugent.be)
  • Transcription factors (TFs) are a class of proteins that are essential for the regulation of gene expression and for the control of protein expression in normal physiological conditions. (els.net)
  • The transcription of RUNX1 is regulated by 2 enhancers (regulatory element 1 and regulatory element 2), and these tissue specific enhancers enable the binding of lymphoid or erythroid regulatory proteins, therefore the gene activity of RUNX1 is highly active in the haematopoietic system. (wikipedia.org)
  • Alternative splicing, or differential splicing, is a regulated process during gene expression that results in a single gene coding for multiple proteins. (wikipedia.org)
  • Notably, alternative splicing allows the human genome to direct the synthesis of many more proteins than would be expected from its 20,000 protein-coding genes. (wikipedia.org)
  • chromosome
  • In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. (wikipedia.org)
  • In humans, the gene RUNX1 is 260 kilobases (kb) in length, and is located on chromosome 21 (21q22.12). (wikipedia.org)
  • The gene encoding IFNα2, the IFNA2 gene, is clustered with all other type I IFN genes on chromosome 9 and as all type I IFN genes, it is devoid of intron. (wikipedia.org)
  • single nucleotide po
  • Single nucleotide polymorphisms (SNPs) in genes coding for highly conserved cellular pathways may cause subtle functional deficiencies (or proficiencies) in those pathways that could increase (or decrease) susceptibility to breast cancer. (aacrjournals.org)
  • The fact that we see no association with any of the tumour necrosis factor single nucleotide polymorphisms or haplotypes makes it highly unlikely that polymorphisms in this gene play a major role in the susceptibility to chronic obstructive pulmonary disease. (ersjournals.com)
  • The importance of complement regulation for good health is highlighted by recent work that seems to imply that individuals carrying point mutations or single nucleotide polymorphisms in their genes for factor H may be more susceptible to diseases including atypical hemolytic uremic syndrome, dense deposit diseases (or membranoproliferative glomrulonephritis type 2) and - most notably because of its prevalence in the elderly - age-related macular degeneration. (wikipedia.org)
  • mutations
  • These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural selection process and some classical chromosomal abnormalities, microdeletions of AZF genes or some deleterious genic mutations could pass through generations. (scielo.br)
  • Conclusions: The absence of clearly pathogenic mutations in the candidate genes screened in our cohort suggests that EFTUD2, PRPF4, NHP2L1, and AAR2 are either not involved in adRP or are associated with the disease in rare instances, at least as observed in this study in patients of European and North American origin. (ugent.be)
  • Maturity onset diabetes of the young" (MODY) refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. (wikipedia.org)
  • receptor
  • The current study was designed to reveal possible associations between the polymorphisms of the vascular endothelial growth factor (VEGF) gene (rs2010963) and its receptor, kinase insert domain-containing receptor (KDR) gene polymorphism (rs2071559), and markers of carotid atherosclerosis in patients with type 2 diabetes mellitus (T2DM). (hindawi.com)
  • In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. (wikipedia.org)
  • All STAT molecules are phosphorylated by receptor associated kinases, that causes activation, dimerization by forming homo- or heterodimers and finally translocate to nucleus to work as transcription factors. (wikipedia.org)
  • After binding to its receptor, type I IFNs activate multiple cellular factors that transduce the signal from the cell surface into the nucleus. (wikipedia.org)
  • The germ cell nuclear factor (GCNF), also known as RTR (retinoid receptor-related testis-associated receptor) or NR6A1 (nuclear receptor subfamily 6, group A, member 1), is a protein that in humans is encoded by the NR6A1 gene. (wikipedia.org)
  • Epidermal growth factor (EGF) stimulates cell growth and differentiation by binding to its receptor, EGFR. (wikipedia.org)
  • EGF acts by binding with high affinity to epidermal growth factor receptor (EGFR) on the cell surface. (wikipedia.org)
  • Epidermal growth factor has been shown to interact with epidermal growth factor receptor. (wikipedia.org)
  • In this study, bFGF was also shown to act on preosteoblasts - in the form of an increased proliferation - after binding to fibroblast growth factor receptor 1 and activating phosphoinositide 3-kinase. (wikipedia.org)
  • platelet-derive
  • Specifically STAT1 can be activated by several ligands such as Interferon alpha (IFNa), Interferon gamma (IFNg), Epidermal Growth Factor (EGF), Platelet Derived Growth Factor (PDGF) or Interleukin 6 (IL-6) Type I interferons (IFN-a, IFN-b) bind to receptors, cause signaling via kinases, phosphorylate and activate the Jak kinases TYK2 and JAK1 and also STAT1 and STAT2. (wikipedia.org)
  • tumour
  • 1 studied polymorphisms in the tumour necrosis factor (TNF) and lymphotoxin A genes with respect to their effect on lung function of smokers, and failed to find any association with chronic obstructive pulmonary disease (COPD) phenotypes. (ersjournals.com)
  • exons
  • In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene. (wikipedia.org)
  • vascular
  • Placenta growth factor (PlGF) is a mitogen for endothelial cells that can potentiate the growth and permeabilizing effects on endothelium of vascular endothelial growth factor. (aacrjournals.org)
  • Vascular permeability factor (VPF), also known as vascular endothelial growth factor, is a homodimeric glycoprotein that acts on vascular endothelium as a potent permeability-inducing agent and mitogen. (aacrjournals.org)
  • Marino and coworkers have recently reported that both circulating and intraplaque polymorphonuclear neutrophil leukocytes from subjects with carotid atherosclerosis are active producers of different inflammatory mediators including the vascular endothelial growth factor (VEGF) [ 11 ]. (hindawi.com)
  • novel
  • We performed a comprehensive analysis of the M. truncatula genome and transcriptome that entailed search for novel ARF genes and the co-expression networks. (frontiersin.org)
  • Our investigation revealed 8 novel M. truncatula ARF (MtARF) genes, of the total 22 identified, and uncovered novel gene co-expression networks as well. (frontiersin.org)
  • To test for possible novel associations between splicing factors and adRP, we screened four tri-snRNP splicing factor genes (EFTUD2, PRPF4, NHP2L1, and AAR2) as candidate disease genes. (ugent.be)
  • Results: We detected novel missense changes in individual patients in the sequence of the genes PRPF4 and EFTUD2, but the role of these changes in relationship to disease could not be verified. (ugent.be)
  • metabolism
  • Transcriptome analysis of rice roots revealed that glutamine induced the expression of at least 35 genes involved in metabolism, transport, signal transduction, and stress responses within 30 min. (springer.com)
  • prevalence
  • While previous studies have identified members of this family, a recent spurt in gene expression data coupled with genome update and reannotation calls for a reassessment of the prevalence of ARF genes and their interaction networks in M. truncatula . (frontiersin.org)
  • characterization
  • In summary, this study not just shines new light on an important gene family, but also provides a guideline for identification of new members of gene families and their functional characterization through network analyses. (frontiersin.org)
  • 2009) Characterization of ERG, AR and PTEN gene status in circulating tumor cells from patients with castration‐resistant prostate cancer. (els.net)
  • suggests
  • The stimulatory effect of oncogenic Ras on the induction of PlGF expression in hypoxic cells suggests that PlGF could be an important proangiogenic factor in the tumor microenvironment. (aacrjournals.org)
  • transcripts
  • Examples of alternative splicing in immunoglobin gene transcripts in mammals were also observed in the early 1980s. (wikipedia.org)
  • IRF9
  • In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (IRF9), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. (wikipedia.org)
  • Interferon regulatory factor 9 is a protein that in humans is encoded by the IRF9 gene, previously known as ISGF3G. (wikipedia.org)
  • genetic
  • These analyses suggest a genetic complexity that may be under estimated when SNPs in single genes are analyzed or when pathway coverage is incomplete. (aacrjournals.org)
  • Although the exact mechanism by which splicing factor defects trigger photoreceptor death is not completely clear, their role in retinitis pigmentosa has been demonstrated by several genetic and functional studies. (ugent.be)
  • Several environmental and genetic factors (i.e., hypoxia, hyperglycemia, oxidative stress, ischemia, and gene polymorphisms of VEGF) influence plasma VEGF levels [ 12 - 16 ]. (hindawi.com)
  • There are several risk factors that may make it more likely that you'll develop type 1 diabetes- if you have the genetic marker that makes you susceptible to diabetes. (endocrineweb.com)
  • Core binding factor acute myeloid leukaemia is a cancer related to genetic changes in the CBF gene. (wikipedia.org)
  • Genetic factors and smoking also play a role. (wikipedia.org)
  • family
  • The Auxin Response Factor (ARF) family of transcription factors is an important regulator of environmental response and symbiotic nodulation in the legume Medicago truncatula . (frontiersin.org)
  • updated cancer risk factor and family cancer history information was collected from all cases and controls at the time of blood collection by telephone interview. (aacrjournals.org)
  • It belongs to the Runt-related transcription factor (RUNX) family of genes which are also called core binding factor-α (CBFα). (wikipedia.org)
  • As a transcription factor (TF), its DNA binding ability is encoded by the runt domain (residues 50 - 177), which is homologous to the p53 family. (wikipedia.org)
  • The protein encoded by this gene is a member of the STAT protein family. (wikipedia.org)
  • Family history: Smoking: Smoking tobacco increases the risk of AMD by two to three times that of someone who has never smoked, and may be the most important modifiable factor in its prevention. (wikipedia.org)
  • Besides EGF itself other family members include: Heparin-binding EGF-like growth factor (HB-EGF) transforming growth factor-α (TGF-α) Amphiregulin (AR) Epiregulin (EPR) Epigen Betacellulin (BTC) neuregulin-1 (NRG1) neuregulin-2 (NRG2) neuregulin-3 (NRG3) neuregulin-4 (NRG4). (wikipedia.org)
  • Basic fibroblast growth factor, also known as bFGF, FGF2 or FGF-β, is a member of the fibroblast growth factor family. (wikipedia.org)
  • Decay-accelerating factor (DAF or CD55) Factor H (fH) Other soluble complement regulators that do not belong to the RCA/CCP family are Complement Factor I and C1 inhibitor. (wikipedia.org)
  • This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. (wikipedia.org)
  • oncogenic
  • In fact, the majority of oncogenic signalling pathways converge on sets of TFs that ultimately control gene expression patterns, resulting in aggressive phenotype, disease progression and increased resistance to drug therapy. (els.net)
  • sequences
  • Exon-PCR and Sanger methods were used to sequence the NHP2L1 and AAR2 genes, while the sequences of EFTUD2 and PRPF4 were obtained by using long-range PCRs spanning coding and non-coding regions followed by next-generation sequencing. (ugent.be)
  • polymorphisms
  • As part of a European Union collaborative project, we have studied polymorphisms within the TNF gene in a large collection of well-characterised Caucasian COPD patients (n = 1,018) and control subjects (n = 911). (ersjournals.com)
  • Among several polymorphisms of the VEGF gene, the rs2010963 (−634C/G polymorphism of the VEGF gene) and few others were reported to affect serum VEGF levels [ 13 - 15 ]. (hindawi.com)
  • regulator
  • In addition, Shumyatsky said that the gene is a negative regulator of microtubule formation and consequently microtubule dynamics are important for fear expression and fear learning. (phys.org)
  • methods
  • It has been postulated that lack of clinical efficacy, as well as some side effects, resulted in part from the high focal levels of the therapeutic factor delivered and/or suboptimal delivery methods. (jneurosci.org)
  • bFGF
  • The expressions of bFGF and NGF genes were studied in the course of cerebral concussion by means of immunohistochemistry and in situ hybridization. (curehunter.com)
  • regulatory
  • Hypothesizing that the Amazonian water system differences would affect the expression of muscle growth-related genes in juvenile tambaqui Colossoma macropomum (Cuvier 1818), this study aimed to analyze the morphometric data and expression of myogenic regulatory factors (MRFs) in the white and red muscle from tambaqui obtained from clear and black Amazonian water systems. (hindawi.com)
  • No such relation was found for the growth regulatory factors (p-trend = 0.94). (aacrjournals.org)
  • At a molecular level, expression of the gene RUNX1 is upregulated by the RUNX1 intronic cis-regulatory element (+23 RUNX1 enhancer). (wikipedia.org)
  • This +23 RUNX1 enhancer contains conserved motifs that encourage binding of various haematopoiesis related regulators such as Gata2, ETS factors (Fli-1, Elf-1, PU.1) and the SCL / Lmo2 / Ldb1 complex, as well as RUNX1 itself acting in an auto-regulatory loop. (wikipedia.org)
  • This recognition induces the activation of specific serine kinases, enzymes which activate by phosphorylation the IFN regulatory factors (IRF), IRF3 and IRF7. (wikipedia.org)