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  • mutation
  • FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency. (bioportfolio.com)
  • Fibroblasts isolated from an Amyotrophic Lateral Sclerosis (ALS)-patient carrying a mutation in Matrin-3 (p.Q66K -MATR3) gene were reprogrammed to the pluripotency stage by using non-integrating episo. (bioportfolio.com)
  • The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP. (bioportfolio.com)
  • The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE). (bioportfolio.com)
  • A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression. (bioportfolio.com)
  • The use of techniques that produce a functional MUTATION or an effect on GENE EXPRESSION of a specific gene of interest in order to identify the role or activity of the gene product of that gene. (bioportfolio.com)
  • A mutation that causes a decrease in or elimination of a gene product's activity. (bioportfolio.com)
  • This approach would be of great interest for high-throughput mutation screening projects aiming to identify genes carrying functional regulatory polymorphisms. (biomedcentral.com)
  • As part of an international breast cancer genetics study aiming to investigate candidate genes conferring an intermediate-risk of breast cancer, we mutation screened the coding exons and the adjacent proximal introns of CHEK2 in 1415 cases and 1204 controls. (biomedcentral.com)
  • In this study, we screened a traditional Chinese medicine (TCM) compound library consisting of 800 single compounds in TKI-resistance NSCLC H1975 cells, which contains substitutions from leucine to arginine at amino acid 858 (L858R) and T790M mutation on EGFR. (mdpi.com)
  • Abnormal gene expression or mutation of SMC1 can cause defect in the DNA damage repair pathway, which has been strongly associated with tumorigenesis. (ijbs.com)
  • Insertion of a functional HTA1 gene ( F ) and deletion of topoisomerase 1 ( TOP1 ) ( G ) rescue the h2a-s129a mutation from CPT-induced death. (nih.gov)
  • protein
  • FANCC (Fanconi Anemia Complementation Group C) is a Protein Coding gene. (genecards.org)
  • DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. (genecards.org)
  • The protein encoded by this gene belongs to the PI3/PI4-kinase family. (jax.org)
  • Furthermore, while E2F4, E2F5 and p130(RBL2/RB2) are the major E2F and pocket protein mRNAs in actively proliferating ES cells, expression levels of E2F5, E2F6, and p105(RB1) are most strongly elevated during cell cycle arrest in cells responding to DNA damage. (umassmed.edu)
  • This response may alter the E2F/pocket protein combinations that control E2F dependent genes and block H4 gene expression by inhibiting histone-specific transcription factors and processing of histone gene transcripts, as well as by destabilizing histone mRNAs. (umassmed.edu)
  • It showed a significantly cytotoxic effect in H1975 cells by causing G2 phase arrest, also remarkably activated 5′ adenosine monophosphate-activated protein kinase (AMPK). (mdpi.com)
  • The RNA-binding protein HuR is highly expressed in the gut mucosa and modulates the stability and translation of target mRNAs, but its exact biological function in the intestinal epithelium remains unclear. (jove.com)
  • We report a hybrid simulation of the coupled cell-cycle control system, including asymmetric cell division and responses to external starvation signals, that replicates mRNA and protein concentration patterns and is consistent with observed mutant phenotypes. (pnas.org)
  • FANCG (also called Protein FACG or DNA-repair protein XRCC9) is involved in DNA repair, perhaps specifically with post-replication repair or a cell cycle checkpoint function. (vwr.com)
  • This protein may also function as a tumor suppressor gene. (vwr.com)
  • SMC1 (Structural Maintenance of Chromosomes protein 1), well known as one of the SMC superfamily members, has been explored to function in many activities including chromosome dynamics, cell cycle checkpoint, DNA damage repair and genome stability. (ijbs.com)
  • The ATM protein, encoded by the gene responsible for the human genetic disorder ataxia telangiectasia (A-T), regulates several cellular responses to DNA breaks. (sciencemag.org)
  • Both mAbs recognize a 370-kD protein in normal cells that is not detected in A-T cells but reappears upon ectopic expression of ATM in them. (sciencemag.org)
  • Protein kinase activity was revealed in immunoprecipitates obtained with these antibodies ( 7 ) from a normal lymphoblastoid cell line (L-40) when the translation repressor PHAS-I ( 8 ) was used as a substrate ( Fig. 1 A). This activity was not detected with an unrelated antibody, and was retained when ATM was eluted from the beads using an excess of the peptide to which the antibody was raised ( 9 ). (sciencemag.org)
  • cellular
  • Research in cancer cell metabolism focuses on altered cellular metabolism that supports the cancer phenotype characterized by unchecked cellular proliferation, resistance to metabolic and oxidative stress, ability to evade programmed cell death, reduced dependence on growth factor signals, insensitivity to growth inhibitory signals, and resistance to therapeutic intervention. (cancer.gov)
  • Cancer cell response to cellular and environmental stresses determines whether and how a cell dies or adapts to the stress in order to survive. (cancer.gov)
  • We describe how p38 MAPK regulates both the G2/M as well as a G1/S cell cycle checkpoint in response to cellular stress such as DNA damage. (ijbs.com)
  • Plays a critical role in maintaining genomic stability and cellular integrity following UV-induced genotoxic stress (By similarity) Regulates the circadian expression of the core clock components NR1D1 and ARNTL/BMAL1. (uniprot.org)
  • replication
  • It coordinates cell cycle checkpoint activation, replication fork stability, restart and origin f. (bioportfolio.com)
  • Model checking also showed that mechanisms involving methylation-state changes in regulatory promoter regions during DNA replication increase the robustness of the cell-cycle control. (pnas.org)
  • Recent findings have identified novel mechanisms providing signals that tightly integrate the biochemical and genetic components of the core cell-cycle circuit with the 3D topology of the cell ( 4 , 6 , 7 ) and DNA replication ( 8 ). (pnas.org)
  • The swarmer daughter cell has a single polar flagellum, polar chemotaxis receptors, and polar pili, and it cannot initiate DNA replication until after a period of motility when the swarmer differentiates into a stalked cell. (pnas.org)
  • Swarmer-to-stalked cell differentiation involves loss of the flagellum and polar chemotaxis receptors, retraction of the pili, construction of a polar stalk, and initiation of DNA replication. (pnas.org)
  • These results suggest that H2A Ser 129 is an essential component for the efficient repair of DNA double-stranded breaks (DSBs) during replication in yeast, particularly of those DSBs that do not induce the intra-S-phase checkpoint. (nih.gov)
  • assay
  • The detection of differential allelic expression (DAE) represents a sensitive assay to direct the search for a functional sequence variant within the transcriptional regulatory elements of a candidate gene. (biomedcentral.com)
  • irradiation
  • For example, UV induced unique time-dependent patterns of change in a set of 44 genes at 6 h post irradiation that was not induced by IR. (renci.org)
  • Fanconi Anemia
  • Fanconi anemia is an autosomal recessive disorder with diverse clinical symptoms, including developmental anomalies, bone marrow failure, and early occurrence of malignancies caused by defects in the FANCG gene. (vwr.com)
  • transcript
  • Unequal usage of synonymous codons in the gene transcript for an amino acid is known as codon usage bias (CUB). (bioportfolio.com)
  • During the course of these investigations, we discovered that a gene encoding an abundant 1.3-kb polyadenylated transcript overlaps the 3' end of the murine adenosine deaminase gene and is transcribed from the opposite strand. (labome.org)
  • Mechanisms
  • RENCI and the Kaufmann lab also collaborated to devise computer models of cell division and DNA damage repair mechanisms. (renci.org)
  • Research in cancer cell biology seeks to define the biological basis for the differences between normal cells and cancer cells and to elucidate basic mechanisms that drive the development and behavior of tumors. (cancer.gov)
  • Emerging areas relevant to this research include understanding the molecular link between body homeostasis and cancer cell biology, including obesity, the role of circadian rhythm in cancer biology, and molecular mechanisms that lead to cancer cachexia. (cancer.gov)
  • The analysis showed that the cell-cycle control is robust and that DNA methylation-based cell-cycle regulatory mechanisms ( 8 ) enhance robustness of the cell cycle. (pnas.org)
  • budding yeast
  • We show that in budding yeast, the intra-S-phase checkpoint controls, although functional, are not activated by the topoisomerase I inhibitor camptothecin (CPT). (nih.gov)
  • Humans
  • 2008-11-29 00:00:00 Permanent lines of pluripotent stem cells can be obtained from humans and monkeys using different techniques and from different sources-inner cell mass of the blastocyst, primary germ cells, parthenogenetic oocytes, and mature spermatogonia-as well as by transgenic modification of various adult somatic cells. (deepdyve.com)
  • functional
  • In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. (springer.com)
  • Structural and functional analysis of the murine adenosine deaminase gene. (labome.org)
  • Heterozygous animals for one gene show similar appearance and life-span as the wild type in normal conditions since one of the alleles is still functional. (biomedcentral.com)
  • function
  • Studies that connect organelle structure and morphology to the phenotypic state or function of cancer cells are of high interest. (cancer.gov)
  • FUNCTION: [Summary is not available for the mouse gene. (utsouthwestern.edu)
  • One of the more important outcomes of this work has been new insight into the function of genes known as tumor-suppressor genes. (fredhutch.org)
  • Biology
  • Research in this area is supported and directed by the Cancer Cell Biology Branch (CCBB) . (cancer.gov)
  • nucleotide
  • Fabiny J, Jayakumar A, Chinault A, Barnes E. Ammonium transport in Escherichia coli: localization and nucleotide sequence of the amtA gene. (labome.org)
  • Ontology
  • Gene ontology analysis of this UV-specific pattern identified RNA transcription as the biological process controlled by the set of co-regulated genes. (renci.org)