• Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. (nih.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Hemophilia is an inherited bleeding disorder in which gene mutations impair the blood's ability to clot. (chop.edu)
  • MODY can result from mutations in any one of the six different genes, one of which encodes the glycolytic enzyme Glucokinase, associated with MO-DY2 and the other five encode transcription factors HNF4-alpha associated with MODY 1, HNF1-alpha associated with MODY 3, IPF with MODY 4, HNF1-Beta with MODY 5 and NeuroD1 with MO-DY6. (scirp.org)
  • Studies related to mutations in the MODY genes have led to a better understanding of the genetic causes of the Beta cell dysfunction as genetic factors plays a great role in this disorder. (scirp.org)
  • Conclusions: Since maximum number of variations exists in exon 5 of the said gene, hence one can initially go for exon5 followed by other exons, while screening for pathogenic MODY 3 mutations in the responsible gene by PCR-SSCP method. (scirp.org)
  • 1999) High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. (scirp.org)
  • Missense mutations in the splicing factor gene PRPF31 cause a dominant form of retinitis pigmentosa (RP11) with reduced penetrance. (molvis.org)
  • Translocations and other types of mutations involving the RUNX1 gene have been associated with different types of leukemia and related blood disorders, including acute lymphoblastic leukemia (ALL), chronic myelomonocytic leukemia (CMML), familial platelet disorder with predisposition to acute myeloid leukemia, and myelodysplastic syndromes (MDS). (medlineplus.gov)
  • The RUNX1 gene mutations associated with these diseases are somatic mutations and are not inherited. (medlineplus.gov)
  • The polymorphic variants of the IGF genes may serve as a susceptibility factor for pancreatic cancer. (aacrjournals.org)
  • The Ahl gene appears to play a role in susceptibility to NIHL but, other genes as well as systemic and local factors must also be involved. (cdc.gov)
  • Conclusions: In summary, this genome-wide identification, characterization and expression analysis of legume bZIP genes provides valuable information for understanding the molecular functions and evolution of the legume bZIP transcription factor family, and highlights potential legume bZIP genes involved in regulating tissue development and abiotic stress responses. (datadryad.org)
  • Genome-wide identification and expression analysis of the bZIP transcription factor family genes in response to abiotic stress in Nicotiana tabacum L. (biomedcentral.com)
  • The differentially expressed genes (DEGs) in AD were screened in GSE48350 dataset. (nature.com)
  • In this study, differentially expressed genes (DEGs) under drought and flooding conditions were investigated using Illumina RNA-Seq transcriptome profiling. (frontiersin.org)
  • This gene encodes coagulation factor XII which circulates in blood as a zymogen. (nih.gov)
  • This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. (nih.gov)
  • In many cases, the disease gene encodes a component of phototransduction or allied processes with expression confined to the retina, for example the rod visual pigment (reviewed in [ 1 ]), or peripherin-RDS [ 2 ], but not all RP genes show such a restricted pattern of expression. (molvis.org)
  • FGFR 3 encodes a transmembrane tyrosine kinase receptor involved in signaling via interaction with the family of fibroblast growth factors. (aacrjournals.org)
  • This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. (nih.gov)
  • The gene, also found in humans, produces an important protein called ATM which senses DNA damage caused by reactive oxygen species and directs other proteins to repair it. (sciencedaily.com)
  • Alternatively, the MYH11 portion of the fusion protein may interact with other proteins that prevent the complex from controlling gene activity. (medlineplus.gov)
  • Together, these proteins form one version of a complex known as core binding factor (CBF). (medlineplus.gov)
  • We have learned that genes in mammalian cells are transcribed into messenger RNAs (mRNAs), which are to be translated into polypeptides (proteins). (intechopen.com)
  • Factor VIII lack is largely an familial upset doing disfunction where one of the proteins needed to organize blood coagulums is losing or reduced owing to heterogenous mutants in F8 cistron. (graduateway.com)
  • Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease. (nih.gov)
  • My blood test said I had one copy of the factor V Leiden mutation, and the doctor said to take one low-dose aspirin a day. (sunjournal.com)
  • Objective: To investigate the mutation pattern in the different transcription factor genes with special reference to HNF1-alpha which are highly penetrant with 63% mutation carriers manifesting clinical diabetes by the age of 25 years. (scirp.org)
  • Hence study of mutation pattern in this gene is essential in our population i.e . (scirp.org)
  • Methods: In our study enzyme amplification (PCR) of the 10 target exons of the said gene with simultaneous mutation detection in them by PCR-SSCP (Polymerase chain reaction-single strand conformational polymorphism) reaction analysis method was attempted by screening of exon 1 - 10 with respect to normal healthy controls without Diabetes Mellitus. (scirp.org)
  • 1998).Linkage and molecular scaning analysis of MODY 3/hepatocyte nuclear factor 1-alpha gene in typical familial type 2 diabetes: Evidence for novel mutation in exon 8 and 10. (scirp.org)
  • A genetic mutation causes increased plasma levels of prothrombin (factor II), predisposing to venous thrombosis. (msdmanuals.com)
  • Direct oral anticoagulants (DOACs) or warfarin can be used for prevention and treatment of venous thrombosis in patients with one (heterozygosity) or two (homozygosity) copies of the prothrombin 20210 gene mutation. (msdmanuals.com)
  • While t(8;21) is important for leukemia development, a mutation in one or more additional genes is typically needed for the myeloid blasts to develop into cancerous leukemia cells. (medlineplus.gov)
  • Depending on the type of mutation, these conditions can be related to impaired regulation of gene activity or loss of normal gene function. (medlineplus.gov)
  • A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. (wikipedia.org)
  • Hemophilia A is an X-linked, recessive disorder caused by deficiency of functional plasma clotting factor VIII (FVIII), which may be inherited or arise from spontaneous mutation. (medscape.com)
  • The finding is also a validation of the genetic methods, which involve looking for low-frequency changes in small genetic sequences within common variants of a gene--an effort possible only by studying very large numbers of individual genomes. (hcplive.com)
  • Studies of European descendants have revealed several gene variants associated with Parkinson's. (kasu.org)
  • The data set was considered too small to detect the sort of gene variants that usually affect the risk for Parkinson's, so it was being used in training exercises to familiarize scientists with techniques used to conduct genome-wide association studies . (kasu.org)
  • A non-COVID-19 example of this includes the interaction between variants in the nitric oxide synthase (NOS) gene and pesticide exposure increasing risk for Parkinson's disease . (cdc.gov)
  • These studies have identified variants in several genes that may contribute to obesity by increasing hunger and food intake. (cdc.gov)
  • Transcription Factor SP2 Regulates Ski-mediated Astrocyte Proliferation In Vitro. (nih.gov)
  • The gene regulates nerve growth factor, providing logic behind a treatment that has already been tested and found worthy. (hcplive.com)
  • The association involves a variant of gene called MCF2L , which regulates the function of neurotrophin-3, a member of the nerve growth factor (NGF) family of signaling molecules. (hcplive.com)
  • Conversely, actin signaling regulates neuronal SRF-mediated gene expression. (jneurosci.org)
  • In conclusion, our results indicate that DNA methylation regulates neurodevelopmental gene expression dynamics through steering transcription factor activity, but does not explain sexually dimorphic gene expression patterns in zebra finch telencephalon. (ugent.be)
  • We also showed that OsPIF14 down-regulates OsDREB1B gene expression in rice protoplasts, corroborating the OsPIF14 repressor activity observed in the transactivation assays using Arabidopsis protoplasts. (unl.pt)
  • Researchers hope the data collected will help to identify behavioral and environmental biomarkers associated with both positive and negative social factors that affect gene expression. (lupus.org)
  • Investigation of hub genes for the development of potential therapeutic targets and candidate biomarkers is warranted. (nature.com)
  • This work hypothesizes that polymorphisms in key glutathione synthesizing enzyme, glutathione S-transferase, and selenoprotein genes underlie inter-individual differences in mercury body burden as assessed by analytical mercury measurement in urine and hair, biomarkers of elemental mercury and methylmercury, respectively. (cdc.gov)
  • therefore, it is imperative to assess the expression of genes involved in response to flood and drought stress. (frontiersin.org)
  • The changes in expression of genes involved in regulating the flux of cell wall precursors and starch/sugar content can serve as an adaptive mechanism for soybean survival under stress conditions. (frontiersin.org)
  • Although host genomics studies in COVID-19 are still a work in progress, this type of research has the potential for both a direct public health benefit resulting from genetic knowledge itself and an indirect benefit resulting from the use of genetics to identify modifiable environmental factors. (cdc.gov)
  • Enrichment analysis was performed by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes. (nature.com)
  • ABSTRACT This study aimed to evaluate the association of plasma MIF level and -173 G/C single nucleotide polymorphism of the MIF gene with the occurrence, severity and mortality of sepsis patients. (who.int)
  • High MIF levels and MIF -173G/C gene polymorphism are powerful predictors of the severity of sepsis and its outcome. (who.int)
  • In this work we proposed to study the role of genetic polymorphism of the eNOS G894T gene in the development of diabetes on the one hand and of these degenerative complications other. (scirp.org)
  • For each patient and control we measured lipid parameters, CRP-us and sought the G894T polymorphism of eNOS gene by PCR-RFLP. (scirp.org)
  • Conclusion: The G894T polymorphism of eNOS gene appears to be a risk factor of T2DM. (scirp.org)
  • 2001) Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (scirp.org)
  • The chromosome distribution and analysis for WGD-derived duplicated blocks revealed that the legume bZIP genes have expanded mainly by segmental duplication rather than tandem duplication. (datadryad.org)
  • Both types of genetic rearrangement result in the fusion of two genes found on chromosome 16, CBFB and MYH11 . (medlineplus.gov)
  • The translocation, written as t(8;21), combines genetic information from chromosome 21 and chromosome 8, fusing the RUNX1 gene on chromosome 21 with a gene on chromosome 8 called RUNX1T1 (also known as ETO ). (medlineplus.gov)
  • Numerous genetic, acquired, and environmental factors can tip. (msdmanuals.com)
  • The diagnosis is made by genetic analysis of the prothrombin 20210 gene using blood samples. (msdmanuals.com)
  • Our data represent the first study of factor IX-associated polymorphisms in Amerindian populations and emphasizes the applicability of these genetic markers for population and human evolution studies. (wayne.edu)
  • Rearrangements of genetic material involving the MYH11 gene are involved in a form of blood cancer known as acute myeloid leukemia (AML). (medlineplus.gov)
  • A rearrangement (translocation) of genetic material involving the RUNX1 gene is found in approximately 7 percent of individuals with a form of blood cancer known as acute myeloid leukemia (AML). (medlineplus.gov)
  • Because this genetic change affects CBF, the condition is classified as core binding factor AML (CBF-AML). (medlineplus.gov)
  • Genetic associations could also provide valuable information through gene-environment interaction. (cdc.gov)
  • A chromosomal combustion takes place, as the Meta Gene takes the source of biostress, be it chemical, radioactivity, or what ever and turns the potential energo response into a catalyst for genetic change. (axenlab.com)
  • Studies of resemblances and differences among family members, twins, and adoptees offer indirect scientific evidence that a sizable portion of the variation in weight among adults is due to genetic factors. (cdc.gov)
  • Does being allergy-prone have a genetic factor? (thenakedscientists.com)
  • Attention must focus not just on the genetic component of diseases but also on the importance of acting on lifestyles and environmental factors to help prevent diseases such as cancer and to reduce their severity. (who.int)
  • Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with COPD, suggesting a role in disease pathogenesis. (lu.se)
  • Our study identified 9 key genes associated with oxidative stress and immune reaction in AD pathogenesis. (nature.com)
  • Molecular pathogenesis of core binding factor leukemia: current knowledge and future prospects. (medlineplus.gov)
  • In other words, expression of specific genes might have relevance to pathogenesis of diseases. (intechopen.com)
  • Attenuation of inducible nitric oxide synthase gene expression by delta 9-tetrahydrocannabinol is mediated through the inhibition of nuclear factor- kappa B/Rel activation. (aspetjournals.org)
  • abstract = "DREB1/ CBF genes, known as major regulators of plant stress responses, are rapidly and transiently induced by low temperatures. (unl.pt)
  • Although these pathways have not been investigated in the human embryo, these findings in mice provide new insights into how the embryo protects itself from oxidative stress and the associated risk factors for embryonic death and abnormal development," says senior author Professor Peter Wells. (sciencedaily.com)
  • The differentially expressed oxidative stress genes (DEOSGs) were analyzed by intersection of DEGs and oxidative stress-related genes. (nature.com)
  • Oxidative stress is involved in the modulation of gene expression patterns and metabolic activities, characterized by the disruption of redox homeostasis 7 . (nature.com)
  • In addition to regulation of cytoplasmic cytoskeletal dynamics, a little appreciated property of actin signaling is modulation of gene expression so far only reported for non-neuronal cells. (jneurosci.org)
  • The molecular mechanisms involved in the specific regulation of PDGF alpha R expression are unknown, but transcriptional regulation of the PDGF alpha R gene is most likely to be involved. (nih.gov)
  • Thus the inhibitory effects of SLTM on gene expression appear to result from generalized down-regulation of mRNA synthesis and initiation of apoptosis consequent upon overexpressing the protein. (bris.ac.uk)
  • However, we did not observe any regulation of the OsDREB1B gene expression by light under control conditions. (unl.pt)
  • R62D-induced phenotypes strongly resemble neurons lacking SRF (Serum Response Factor). (jneurosci.org)
  • Transcription factor Sp2 promotes TGFB-mediated interstitial cell osteogenic differentiation in bicuspid aortic valves through a SMAD-dependent pathway. (nih.gov)
  • This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. (medlineplus.gov)
  • Gene expression must be appropriately maintained to regulate development, differentiation, and proliferation of cells. (intechopen.com)
  • It is reasonable to assume that this translocation corresponds to the consistent rearrangement of one or two genes in 12q13 and/or 16p11, and that the loci thus affected are important in the normal control of fat cell differentiation and proliferation. (lu.se)
  • We have used Southern blot technique to test whether a gene of the CCAAT/enhancer binding protein (C/EBP) family, CHOP, which maps to 12q13 and is assumed to be involved in adipocyte differentiation, could be the 12q gene in question. (lu.se)
  • It activates coagulation factors VII and XI. (nih.gov)
  • The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis). (medlineplus.gov)
  • The protein produced from the normal CBFB gene interacts with another protein called RUNX1 to form a complex called core binding factor (CBF). (medlineplus.gov)
  • This protein interacts with another protein called core binding factor beta or CBFβ (produced from the CBFB gene), which helps RUNX1 bind to DNA and prevents it from being broken down. (medlineplus.gov)
  • Dive into the research topics of 'Rice phytochrome-interacting factor protein OsPIF14 represses OsDREB1B gene expression through an extended N-box and interacts preferentially with the active form of phytochrome B'. Together they form a unique fingerprint. (unl.pt)
  • Recent studies suggest that several genes mediating the toxicokinetics of mercury are polymorphic in humans and may influence inter-individual variability in mercury accumulation. (cdc.gov)
  • Taqman assays were used to genotype DNA from buccal swab samples at 15 polymorphic sites in genes implicated in mercury metabolism. (cdc.gov)
  • There are pseudogenes for this gene on chromosomes 6, 7, and 11. (nih.gov)
  • For those relapsed patients, the only alternative is to implement a bypass strategy, infusing other compounds that enable the blood to coagulate: activated recombinant clotting factor VIIa, activated prothrombin complex, or more recently, an antibody that has just been approved by the FDA for all hemophilia A patients. (chop.edu)
  • Prothrombin (factor II) is a vitamin. (msdmanuals.com)
  • Reports indicate that a G-to-A transition at nucleotide position 20210 (G20210A) in the prothrombin gene is considered a risk factor for cerebral venous thrombosis. (medscape.com)
  • Key Amino Acid Residues of Mitochondrial Transcription Factor A Synergize with Abasic (AP) Site Dynamics To Facilitate AP-Lyase Reactions. (nih.gov)
  • Identifying Mitochondrial Transcription Factor A As a Potential Biomarker for the Carcinogenesis and Prognosis of Prostate Cancer. (nih.gov)
  • Downregulated mitochondrial transcription factor A enhances mycoplasma infection to promote the metastasis of hepatocellular carcinoma. (nih.gov)
  • If all the bad lemons lined up - if you had a lot of risk factors, such as no ATM gene combined with exposure to certain drugs and lack of other pathways that protect against reactive oxygen species - you'd be in big trouble, according to our theory in mice. (sciencedaily.com)
  • Diabetes risk factors are well known. (scirp.org)
  • Diabetes constitutes one of the major independent cardiovascular risk factors, and patients with this disease suffer from premature cardiovascular morbidity and mortality. (scirp.org)
  • The OR (95% CI) were 1.07 (0.81-1.42), 2.12 (1.53-2.93), and 5.69 (2.63-12.3) for individuals who had the CC/CG genotype alone, diabetes alone, or both factors, respectively, compared with subjects without either of the two factors with adjustment for other risk factors. (aacrjournals.org)
  • The known and suspected risk factors for pancreatic cancer include cigarette smoking, type II diabetes, obesity, family history of pancreatic cancer, and diet ( 2 ). (aacrjournals.org)
  • These patients are usually younger than stroke patients in the general population and do not have the vascular risk factors. (medscape.com)
  • In combination with important risk factors such as age and comorbidities, these 13 loci may provide additional information to further determine an individual's risk for certain COVID-19 outcomes. (cdc.gov)
  • All patients completed a questionnaire to identify possible risk factors and subsequently underwent peripheral blood collection to study the LOX gene. (bvsalud.org)
  • Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. (nih.gov)
  • In other words, according to the "thrifty genotype" hypothesis, the same genes that helped our ancestors survive occasional famines are now being challenged by environments in which food is plentiful year round. (cdc.gov)
  • The eNOS gene has several single nucleotide polymorphisms reported, one of which is G894T. (scirp.org)
  • The results of the haplotype distribution and the allele frequencies for each of the factor IX gene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic groups. (wayne.edu)
  • Overall, this study suggests that polymorphisms in selenoproteins and glutathione-related genes may influence elimination of mercury in the urine and hair or mercury retention following exposures to elemental mercury (via dental amalgams) and methylmercury (via fish consumption). (cdc.gov)
  • G start codon variant of F12 gene]. (nih.gov)
  • The gene variant in question is associated more closely with knee osteoarthritis than with OA of the hip. (hcplive.com)
  • A team that included scientists from Lagos, London and the U.S. found a previously unknown gene variant that can nearly quadruple the risk of Parkinson's for people of African ancestry. (kasu.org)
  • It could eventually help scientists develop a treatment specifically for people with this particular gene variant. (kasu.org)
  • The gene variant was found almost exclusively in people of African descent. (kasu.org)
  • For example, this study found a gene variant of TYK2, previously shown to protect against autoimmune-related diseases , to be associated with COVID-19 hospitalization and severity. (cdc.gov)
  • Rarely, a clear pattern of inherited obesity within a family is caused by a specific variant of a single gene (monogenic obesity). (cdc.gov)
  • This researcher, who is of Iranian origin, has studied the mechanism of the action of the glgS gene in bacteria and in various Salmonella species, which in certain cases can cause diseases and acute symptoms in humans. (europa.eu)
  • Recent global analyses of gene transcripts revealed that specific transcription factors (TFs) and their networking systems physiologically correspond to the onset of human diseases, including cancer. (intechopen.com)
  • The legume bZIP genes were categorized into 11 groups according to their phylogenetic relationships with genes from Arabidopsis. (datadryad.org)
  • These 77 genes were then divided into eleven subfamilies according to their homology with Arabidopsis thaliana . (biomedcentral.com)
  • Identification of transcription factors interacting with a 1274 bp promoter of MaPIP1;1 which confers high-level gene expression and drought stress Inducibility in transgenic Arabidopsis thaliana. (bvsalud.org)
  • Important regulatory factors, TFs bind to the promoter regions of target genes and activate or inhibit their transcription. (biomedcentral.com)
  • they can combine with the promoter regions of key genes in signaling pathways to regulate their transcription levels and, in turn, plant resistance to stress. (biomedcentral.com)
  • Given that OKSM (Yamanaka) factors convert somatic cells into induced pluripotent stem (iPS) cells, alterations in transcriptional state could affect destiny of the cells. (intechopen.com)
  • Somatic gene therapy holds promise for improving human health, but possible risks for health must be balanced against possible benefits. (who.int)
  • The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. (nih.gov)
  • The effects of 13-cis retinoic acid (RA) and dexamethasone on the levels of epidermal growth factor (EGF) receptor and fibroblast derived proteoglycan core protein (PG40) mRNAs were studied in human skin fibroblasts. (medicaljournals.se)
  • Patients who develop antibodies to the coagulation factors usually prescribed for hemophilia have a complicated treatment," said study leader Paris Margaritis, DPhil , a hematology researcher in the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at Children's Hospital of Philadelphia (CHOP). (chop.edu)
  • In summary, our results showed that IGFBP-3 methylation played an important role in the silencing of its expression, suggesting that IGFBP-3 may act as a tumor suppressor gene in several human cancers examined. (nih.gov)
  • Clark JM, Annenkov AE, Panesar M, Isomäki P, Chernajovsky Y, Cope AP: T cell receptor zeta reconstitution fails to restore responses of T cells rendered hyporesponsive by tumor necrosis factor alpha. (biomedcentral.com)
  • There is also a rare condition known as ataxia telangiectasia or AT in which people have no copies of the gene and are highly susceptible to problems such as neurological disorders and cancer. (sciencedaily.com)
  • They established that a specific DNA signature made up of 70 genes distinguished whether breast cancer tumors had a low or high risk of recurrence. (agendia.com)
  • Insulin-like growth factors (IGF) have been associated with risk of common human cancers, but the association between IGFs and pancreatic cancer risk is unclear. (aacrjournals.org)
  • Although SLTM also suppressed the ability of oestrogen to activate a reporter gene in MCF-7 breast-cancer cells, inhibition of a constitutively active beta-galactosidase gene suggested that this was primarily the consequence of a generalized inhibitory effect on transcription. (bris.ac.uk)
  • The human Dachshund gene also seems to act as a tumour suppressor, stopping cells from growing out of control and forming cancers, and faults in the gene have been found in some types of human cancer, including lung, pancreas and liver tumours. (thenakedscientists.com)
  • An experiment include 20 rawbioassays, e.g., gene expression analysis of lung cancer biopsies. (lu.se)
  • However, the user is concerned that a number of technical parameters, not related to the biology of lung cancer, might be confounding factors and affect the analysis. (lu.se)
  • Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. (nih.gov)
  • Autosomal dominant disorders of skeletal and cranial development have been linked to fibroblast growth factor receptor ( FGFR) 2 and FGFR3 . (aacrjournals.org)
  • and (4) how dynamic modeling of DNA-binding and gene expression data can be used to infer regulatory logic of TF circuitry. (lu.se)
  • Forkhead box (Fox) transcription factors evolved early in animal evolution and represent important components of conserved gene regulatory networks (GRNs) during animal development. (lu.se)
  • In a study published online by the FASEB Journal in March, researchers at U of T's Leslie Dan Faculty of Pharmacy found that mice embryos genetically engineered to lack one or both copies of the ATM gene and then exposed to ionizing radiation and a subsequent overload of reactive oxygen species were at increased risk for dying in utero, developing birth defects or experiencing other developmental problems after birth. (sciencedaily.com)
  • Gsn ) and is the archetypical transcription factor to study actin interplay with transcription. (jneurosci.org)
  • This study describes the molecular cloning of the non-coding exon 1 and approximately 2 kb of 5' flanking region of the human PDGF alpha R gene. (nih.gov)
  • The study team used adeno-associated virus (AAV) as a vector to deliver a rat factor VIIa gene. (chop.edu)
  • The main objective of the study was to determine the G894T SNP in the eNOS gene such as risk factor for T2DM in Tunisian population. (scirp.org)
  • A new study investigating the potential influence of social, behavioral and environmental factors on how genes work ( gene expression ) and affect lupus outcomes in African American women is underway. (lupus.org)
  • The Social Factors, Epigenomics and Lupus in African American Women Study aims to evaluate the effects of racial discrimination and social support on lupus outcomes through changes in gene expression. (lupus.org)
  • Ekemeni Riley is the managing director of Aligning Science Across Parkinson's, a research initiative that worked on an effort to bring a more diverse population into a study on genes that carry a greater risk for the disease. (wvik.org)
  • The present study was conducted to optimize the different factors affecting Agrobacterium -mediated transformation of chitinase gene. (ajol.info)
  • No study has established a relationship between factor V Leiden and arterial strokes, thus the incidence of this factor in patients with stroke is not known. (medscape.com)
  • This study also identifies immune system genes that may play a role in COVID-19 outcomes. (cdc.gov)
  • This study has revealed the involvement of TFs, transporters, and photosynthetic genes, and has also given a glimpse of hormonal cross talk under the extreme water regimes, which will aid as an important resource for soybean crop improvement. (frontiersin.org)
  • Cotranscription from the two loci results in a transcript that contains a complete coding region for the zinc finger protein but lacks a complete coding region for ciliary neurotrophic factor. (wikipedia.org)
  • In a general gene expression pattern screen for panarthropod Fox genes including the red flour beetle Tribolium castaneum, the pill millipede Glomeris marginata, the common house spider Parasteatoda tepidariorum, and the velvet worm Euperipatoides kanangrensis, we identified a Fox gene with a highly conserved expression pattern along the ventral ectoderm of arthropod and onychophoran limbs. (lu.se)
  • Each myosin protein complex consists of two pairs of light chains, which regulate the complex and are produced from several other genes, and two heavy chains such as that produced from the MYH11 gene. (medlineplus.gov)
  • Previous studies showed that the MaPIP1;1 gene encoding an aquaporin is involved in the plant drought stress response. (bvsalud.org)
  • In banana plants grown in 45% soil moisture to mimic drought stress, MaPIP1;1 expression was maximized, which further demonstrated that the MADS3 transcription factor can synergize with MaPIP1;1. (bvsalud.org)
  • However, cell wall synthesis related genes were up-regulated under drought stress and down-regulated under flooding stress. (frontiersin.org)
  • The mRNA expression of diagnostic genes was determined by qRT-PCR analysis. (nature.com)
  • T-cell receptor (TCR)-induced IL-2 expression is suppressed at the level of mRNA and protein following chronic culture of T cells with tumour necrosis factor (TNF) at picomolar concentrations, an effect that is reversible upon removal of TNF. (biomedcentral.com)
  • Upon depletion of RBPJ using CRISPR/Cas9, we observed specific upregulation of Notch target gene expression. (mdpi.com)
  • Expression data further revealed that the legume bZIP genes were expressed constitutively or in an organ-specific, development-dependent manner playing roles in multiple seed developmental stages and tissues. (datadryad.org)
  • Roles of insulin-like growth factor II in regulating female reproductive physiology. (igf-ii.com)
  • Thus, herein we provide first evidence that neuronal motility not only depends on cytoplasmic actin dynamics but also on the availability of actin to modulate nuclear functions such as gene transcription. (jneurosci.org)
  • The MYH11 gene provides instructions for making a protein called smooth muscle myosin heavy chain 11. (medlineplus.gov)
  • The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). (medlineplus.gov)
  • Using PCR generated, site-specific probes corresponding to the non-coding exons 1 and 2 and intron 2 of CHOP, rearrangements in five of seven tumors mapped to the 2.4 and 1.6 kbp PstI fragments that contain the first two exons and introns of the gene and the upstream promoter region. (lu.se)
  • For example, steroid and thyroid hormones directly bind to nuclear receptors, which induce expression of specific genes. (intechopen.com)
  • Even people with two abnormal copies of the gene usually do not receive medication unless they have a history of a blood clot. (sunjournal.com)
  • Inbred C57BL/6J mice carry two copies of an age-related hearing loss gene (Ahl). (cdc.gov)
  • In addition to regulating cytoskeletal dynamics in the cytoplasm, actin modulates nuclear gene expression. (jneurosci.org)
  • iNOS transcription, which is regulated in part by the nuclear factor-kappa B/Rel (NF-kappa B/Rel) family of transcription factors, has been shown to be under the control of the cAMP signaling cascade. (aspetjournals.org)
  • LPS treatment of RAW 264.7 cells also induced the activation of the cAMP cascade, as indicated by an increase in binding of nuclear factors to the cAMP response element. (aspetjournals.org)
  • Splicing of RHO intron 3 and GNAT1 introns 3-5 mini-gene templates was inefficient with both spliced and unspliced products clearly detected. (molvis.org)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • Expression of the platelet-derived growth factor alpha receptor (PDGF alpha R) is strictly regulated during mammalian development and tumorigenesis. (nih.gov)
  • This complex attaches to specific areas of DNA and turns on genes that are involved in the development of blood cells. (medlineplus.gov)
  • Nevertheless, the variation in how people respond to the same environment suggests that genes do play a role in the development of obesity. (cdc.gov)
  • The prevalence of humans missing one copy of the ATM gene is relatively common, around one to two per cent of the population, says Wells. (sciencedaily.com)
  • If future research found that humans had the same sort of ATM sensitivity as mice, he says, it would suggest the potential for diagnostic tests to determine if an embryo is at risk for birth defects because it lacks the gene and even for possible protein therapies to help counteract ATM deficits in embryos. (sciencedaily.com)
  • While factor VIIa continues to be widely used, we still don't know what the level of circulating factor VIIa needs to be in order to use it safely on a prophylactic basis in humans," said Margaritis. (chop.edu)
  • Ciliary neurotrophic factor is a protein that in humans is encoded by the CNTF gene. (wikipedia.org)
  • Apparently a latent self-preservation 'gene' capable of producing seemingly 'superhuman' abilities in earth humans during times of extreme stress or crisis. (axenlab.com)
  • Transcription factor RUNX1 promotes survival of acute myeloid leukemia cells. (medlineplus.gov)
  • The disease phenotype would appear to arise therefore only when the level of WT splicing factor falls below a critical threshold in rod photoreceptors. (molvis.org)