Loading...
  • genetics
  • In genetics, Flp-FRT recombination is a site-directed recombination technology, increasingly used to manipulate an organism's DNA under controlled conditions in vivo. (wikipedia.org)
  • ii) In the context of nucleotide changes in DNA sequences, transition is a specific term that refers to the exchange between either the two purines (A ↔ G) or the two pyrimidines (C ↔ T) (for additional details, see the article about transitions in genetics). (wikipedia.org)
  • gene
  • Takeshita T, Yamamoto Y, Yamamoto-Ibusuki M et al (2018) Clinical significance of plasma cell-free DNA mutations in PIK3CA, AKT1, and ESR1 gene according to treatment lines in ER-positive breast cancer. (springer.com)
  • DNA methylation is an epigenetic process involved in gene regulation that is key for cell differentiation and viability. (purdue.edu)
  • Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines. (cancerindex.org)
  • Recently, the EXTL1 gene was suggested as a candidate neuroblastoma-suppressor gene and to evaluate this hypothesis, we performed 1p deletion analysis and mutation screening of the EXTL1-coding region on DNA from 22 primary neuroblastomas and 21 neuroblastoma cell lines. (cancerindex.org)
  • Haplotype analysis and fine mapping yielded a peak 2-point lod score of 4.14 and indicated a 4-cM region on 1q42 that is likely to harbor an episodic ataxia gene. (biomedsearch.com)
  • In addition to their role in base excision repair, DNA glycosylase enzymes have been implicated in the repression of gene silencing in A. thaliana, N. tabacum and other plants by active demethylation. (wikipedia.org)
  • DNA-dependent protein kinase, catalytic subunit, also known as DNA-PKcs, is an enzyme that in humans is encoded by the gene designated as PRKDC or XRCC7. (wikipedia.org)
  • The human gene is well researched and orthologs exist ubiquitously among prokaryotes and eukaryotes and even in some DNA viruses. (wikipedia.org)
  • The human gene encodes one of several uracil-DNA glycosylases. (wikipedia.org)
  • DNA repair protein complementing XP-A cells is a protein that in humans is encoded by the XPA gene. (wikipedia.org)
  • DNA ligase 1 is an enzyme that in humans is encoded by the LIG1 gene. (wikipedia.org)
  • If a cell retains DNA damage, transcription of a gene can be prevented and thus translation into a protein will also be blocked. (wikipedia.org)
  • deamination
  • Human thymine DNA glycosylase (TDG) was discovered as an enzyme that can initiate base excision repair at sites of 5-methylcytosine- or cytosine deamination in DNA by its ability to release thymine or uracil from G.T and G.U mismatches. (uzh.ch)
  • Current evidence suggests that, in human cells, TDG and SMUG1 are the major enzymes responsible for the repair of the U:G mispairs caused by spontaneous cytosine deamination, whereas uracil arising in DNA through dU misincorporation is mainly dealt with by UNG. (wikipedia.org)
  • residues
  • Crystal structure analysis of an Escherichia coli homologue identified conserved amino acid residues that are critical for its substrate recognition/interaction and base hydrolysis functions. (uzh.ch)
  • These other residues are crucial to the correct orientation of Flp binding and positioning on the DNA strands. (wikipedia.org)
  • DNA damage is any physical abnormality in the DNA, such as single and double strand breaks, 8-hydroxydeoxyguanosine residues and polycyclic aromatic hydrocarbon adducts. (wikipedia.org)
  • damage
  • Independent of replicative age, factors such as oncogenic activation, DNA damage, chromatin remodeling, cellular stress, overexpression of cyclin-dependent kinase (Cdk) inhibitors, and deprotection of chromosome ends can also induce a phenotype resembling senescence ( 11 -16 ). (aacrjournals.org)
  • A mutant lacking the DNA glycosylase/AP lyase Nth1 is very sensitive to the alkylating agent methyl methanesulfonate (MMS), suggesting a role for Nth1 in base excision repair (BER) of alkylation damage. (biomedsearch.com)
  • Nicked DNA can be the result of DNA damage or purposeful and carefully regulated biomolecular reactions carried out in the cell. (wikipedia.org)
  • If DNA repair is deficient, DNA damage tends to accumulate. (wikipedia.org)
  • Excess DNA damage may also increase epigenetic alterations due to errors during DNA repair. (wikipedia.org)
  • Damage in this context is a DNA alteration that has an abnormal structure. (wikipedia.org)
  • Although both mitochondrial and nuclear DNA damage can contribute to aging, nuclear DNA is the main subject of this analysis. (wikipedia.org)
  • Nuclear DNA damage can contribute to aging either indirectly (by increasing apoptosis or cellular senescence) or directly (by increasing cell dysfunction). (wikipedia.org)
  • Freitas and de Magalhães presented a comprehensive review and appraisal of the DNA damage theory of aging, including a detailed analysis of many forms of evidence linking DNA damage to aging. (wikipedia.org)
  • Overall, they concluded that while the complexity of responses to DNA damage remains only partly understood, the idea that DNA damage accumulation with age is the primary cause of aging remains an intuitive and powerful one. (wikipedia.org)
  • In humans and other mammals, DNA damage occurs frequently and DNA repair processes have evolved to compensate. (wikipedia.org)
  • Some DNA damage may remain in any cell despite the action of repair processes. (wikipedia.org)
  • The accumulation of unrepaired DNA damage is more prevalent in certain types of cells, particularly in non-replicating or slowly replicating cells, such as cells in the brain, skeletal and cardiac muscle. (wikipedia.org)
  • DNA damage can be recognized by enzymes, and thus can be correctly repaired using the complementary undamaged sequence in a homologous chromosome if it is available for copying. (wikipedia.org)
  • Descriptions of reduced function, characteristic of aging and associated with accumulation of DNA damage, are given later in this article. (wikipedia.org)
  • genome
  • A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers. (biomedsearch.com)
  • DNA mismatch repair (MMR) is an important DNA repair system that helps maintain genome plasticity by correcting mismatches, or non Watson-Crick base pairs in the a DNA duplex. (wikipedia.org)
  • Transposition is a precise process in which a defined DNA segment is excised from one DNA molecule and moved to another site in the same or different DNA molecule or genome. (wikipedia.org)
  • The elevation of DNA-PKcs is thought to reflect the induction of a compensatory DNA repair capability, due to the genome instability in these cancers. (wikipedia.org)
  • Φ29 is a bacteriophage of Bacillus subtilis with a sequenced, linear, 19,285 base pair DNA genome. (wikipedia.org)
  • cleavage
  • A general role of the DNA glycosylase Nth1 in the abasic sites cleavage step of base excision repair in Schizosaccharomyces pombe. (biomedsearch.com)
  • Analysis of the AP site cleavage in whole cell extracts of wild-type and mutant strains showed that the AP lyase activity of Nth1 represents the major AP site incision activity in vitro. (biomedsearch.com)
  • Effects of DNA and protein size on substrate cleavage by human tyrosyl-DNA phosphodiesterase 1. (wikipedia.org)
  • 397 1: 161-78 Preferred sequences within a defined cleavage window specify DNA 3' end-directed cleavages by retroviral RNases H. Schultz SJ, Zhang M, Champoux JJ The Journal of Biological Chemistry. (wikipedia.org)
  • The nucleophilic properties of the tyrosine attack and bind to the 3'-phosphate at the point of DNA cleavage. (wikipedia.org)
  • cancers
  • BRCA1 breast cancers displayed a mutational signature consistent with that caused by lack of HR DNA repair in both ER-positive and ER-negative cases. (biomedsearch.com)
  • DNA-PKcs expression was reduced by 23% to 57% in six cancers as indicated in the table. (wikipedia.org)
  • It is not clear what causes reduced expression of DNA-PKcs in cancers. (wikipedia.org)
  • Elevated DNA-PKcs expression is found in a large fraction (40% to 90%) of some cancers (the remaining fraction of cancers often has reduced or absent expression of DNA-PKcs). (wikipedia.org)
  • As indicated in a table listing 12 types of cancer reported in 20 publications, the fraction of cancers with over-expression of DNA-PKcs is often associated with an advanced stage of the cancer and shorter survival time for the patient. (wikipedia.org)
  • However, the table also indicates that for some cancers, the fraction of cancers with reduced or absent DNA-PKcs is also associated with advanced stage and poor patient survival. (wikipedia.org)
  • sequences
  • The genomics era began in the 1990s, with the generation of DNA sequences of many organisms. (wikipedia.org)
  • The Sleeping Beauty transposon system is composed of a Sleeping Beauty (SB) transposase and a transposon that was designed in 1997 to insert specific sequences of DNA into genomes of vertebrate animals. (wikipedia.org)
  • Further work has shown that the DNA-binding domain consists of two paired sequences, which are homologous to sequence motifs found in certain transcription factors. (wikipedia.org)
  • For example, mutational biases and purifying selection favoring conservative changes are probably both responsible for the relatively high rate of transitions compared to transversions in evolving sequences. (wikipedia.org)
  • Evolutionary analyses of sequences are conducted on a wide variety of time scales. (wikipedia.org)
  • Example: We would like to model the substitution process in DNA sequences (i.e. (wikipedia.org)
  • Nucleotide
  • Push: To fully assess the nucleotide identity, the intercalation loop penetrates, or pushes into, the DNA minor groove and induces a conformational change to flip the nucleotide out of the helix. (wikipedia.org)
  • Nucleotide excision repair (NER) is a major pathway for repairing a variety of bulky DNA damages including those introduced by UV irradiation. (wikipedia.org)
  • Mouse models of nucleotide-excision-repair syndromes reveal a striking correlation between the degree to which specific DNA repair pathways are compromised and the severity of accelerated aging, strongly suggesting a causal relationship. (wikipedia.org)
  • protein
  • BRCA1 encodes a tumour suppressor protein that plays pivotal roles in homologous recombination (HR) DNA repair, cell-cycle checkpoints, and transcriptional regulation. (biomedsearch.com)
  • LigA drives the process of the ligation by wrapping its protein clamp around the DNA and creating large protein conformational changes and remodeling of the active site. (wikipedia.org)
  • DNA-PKcs belongs to the phosphatidylinositol 3-kinase-related kinase protein family. (wikipedia.org)
  • The DNA-Pkcs protein is a serine/threonine protein kinase comprising a single polypeptide chain of 4,128 amino acids. (wikipedia.org)
  • DNA-PKcs is the catalytic subunit of a nuclear DNA-dependent serine/threonine protein kinase called DNA-PK. (wikipedia.org)
  • MicroRNA-101 targets DNA-PKcs via binding to the 3'- UTR of DNA-PKcs mRNA and efficiently reduces protein levels of DNA-PKcs. (wikipedia.org)
  • HMGA2 protein could also have an effect on DNA-PKcs. (wikipedia.org)
  • Epigenetic reduction or absence of let-7a microRNA allows high expression of the HMGA2 protein and this would lead to defective expression of DNA-PKcs. (wikipedia.org)
  • The ATM protein is important in homologous recombinational repair (HRR) of DNA double strand breaks. (wikipedia.org)
  • Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein. (wikipedia.org)
  • cytosine
  • Once unzipped, mismatched guanine and uracil pairs are separated, and DNA polymerase inserts complementary bases to form a guanine-cytosine (GC) pair in one daughter strand and an adenine-uracil (AU) pair in the other. (wikipedia.org)
  • mitochondrial
  • We utilize DNA sequence data from the nuclear, chloroplast, and mitochondrial genomes to infer historical processes of biodiversification. (duke.edu)
  • mechanism
  • The crystal structure of Dnmt3a catalytic domain shows that it forms a tetramer and it was shown to methylate multiple sites on DNA by a cooperative catalytic mechanism. (purdue.edu)
  • His interests are retroviruses and topoisomerases and his highest cited paper is DNA Topoisomerases: Structure, Function, and Mechanism at 222 times, according to Google Scholar. (wikipedia.org)
  • DNA Topoisomerases: Structure, Function, and Mechanism, Vol. 70:369-413 (Volume publication date July 2001). (wikipedia.org)
  • Base excision repair is the mechanism by which damaged bases in DNA are removed and replaced. (wikipedia.org)
  • This family of recombinases performs its function via a type IB topoisomerase mechanism causing the recombination of two separate strands of DNA. (wikipedia.org)
  • In the 1960s Lehman laboratories investigated this mystery, discovering DNA ligase and its mechanism of action in 1967. (wikipedia.org)
  • therapeutic
  • We conclude that ctDNA analysis as an adjunct to BM biopsy represents a noninvasive and holistic strategy for improved mutational characterisation and therapeutic monitoring of MM. (ovid.com)
  • uracil
  • Four different uracil-DNA glycosylase activities have been identified in mammalian cells, including UNG, SMUG1, TDG, and MBD4. (wikipedia.org)
  • The first uracil DNA-glycosylase was isolated from Escherichia coli. (wikipedia.org)
  • Pinch: UDG scans DNA for uracil by nonspecifically binding to the strand and creating a kink in the backbone, thereby positioning the selected base for detection. (wikipedia.org)
  • strands
  • Nicks are also thought to play a role in the DNA mismatch repair mechanisms that fix errors on both the leading and lagging daughter strands. (wikipedia.org)
  • As their family name suggests, a highly conserved tyrosine nucleophile cleaves the DNA strands. (wikipedia.org)
  • Cells
  • After ionizing radiation DNA-PKcs was increased in the surviving cells of oral squamous cell carcinoma tissues. (wikipedia.org)
  • When cancer cells are deficient in ATM the cells are "addicted" to DNA-PKcs, important in the alternative DNA repair pathway for double-strand breaks, non-homologous end joining (NHEJ). (wikipedia.org)
  • That is, in ATM-mutant cells, an inhibitor of DNA-PKcs causes high levels of apoptotic cell death. (wikipedia.org)
  • In ATM mutant cells, additional loss of DNA-PKcs leaves the cells without either major pathway (HRR and NHEJ) for repair of DNA double-strand breaks. (wikipedia.org)
  • Elevated DNA-PKcs is thought to be "beneficial to the tumor cells", though it would be at the expense of the patient. (wikipedia.org)
  • Because the recombination activity can be targeted to a selected organ, or a low level of recombination activity can be used to consistently alter the DNA of only a subset of cells, Flp-FRT can be used to construct genetic mosaics in multicellular organisms. (wikipedia.org)
  • catalytic
  • The three domains consist of an N-terminal DNA binding domain (DBD), and catalytic nucleotidyltransferase (NTase), and C-terminal oligonucleotide / oligosaccharide binding (OB) domains. (wikipedia.org)
  • Moreover, the identification of a cyclin binding (Cy) motif in the catalytic C-terminus domain was shown by mutational analysis to play a role in the phosphorylation of serines 91 and 76. (wikipedia.org)
  • During adenylylation, there is a nucleophilic attack on the alpha phosphate of ATP from a catalytic lysine resulting in the production of inorganic pyrophosphate (PPi) and a covalently bound lysine-AMP intermediate in the active site of DNA ligase 1. (wikipedia.org)
  • backbone
  • Each model predicts distinct sets of interactions between surface arginines and negatively charged phosphates in the DNA backbone. (mdpi.com)
  • This leads to a different DNA conformation, where a hydrogen bond forms in place of the missing piece of the DNA backbone in order to preserve the structure. (wikipedia.org)
  • At the end of the segment that DNA polymerase acts on, DNA ligase must repair the final segment of DNA backbone in order to complete the repair process. (wikipedia.org)
  • This compression of the DNA backbone, or "pinch," allows for close contact between UDG and base of interest. (wikipedia.org)
  • epigenetic
  • DNA methyltransferase 3a and 3b (Dnmt3a andDnmt3b) are two enzymes that establish this epigenetic modification during early cell development. (purdue.edu)
  • Circulating
  • Analysis of plasma (PL)-derived circulating free tumour DNA (ctDNA) as an adjunct to BM biopsy, for mutational characterisation and tracking disease progression, was evaluated. (ovid.com)
  • Diaz LA Jr, Bardelli A (2014) Liquid biopsies: genotyping circulating tumor DNA. (springer.com)
  • Dawson SJ, Tsui DW, Murtaza M et al (2013) Analysis of circulating tumor DNA to monitor metastatic breast cancer. (springer.com)
  • Diehl F, Schmidt K, Choti MA et al (2008) Circulating mutant DNA to assess tumor dynamics. (springer.com)
  • familial
  • Current projects in the lab include molecular phylogenetic analyses of familial and ordinal level relationships in the arthrodontous mosses, studies of hybridization using molecular and morphological markers, and investigations of cryptic speciation within geographically widespread species. (duke.edu)
  • sequence
  • Sequence analysis of the URA3 mutants revealed approximately 48% frameshifts, approximately 44% base substitutions and approximately 8% complex events. (biomedsearch.com)
  • As do all other Tc1/mariner-type transposases, SB transposase inserts a transposon into a TA dinucleotide base pair in a recipient DNA sequence. (wikipedia.org)
  • A number of different Markov models of DNA sequence evolution have been proposed. (wikipedia.org)
  • By expressing models in terms of the instantaneous rates of change we can avoid estimating a large numbers of parameters for each branch on a phylogenetic tree (or each comparison if the analysis involves many pairwise sequence comparisons). (wikipedia.org)
  • Consider a DNA sequence of fixed length m evolving in time by base replacement. (wikipedia.org)
  • ligase
  • One particular example of a ligase catalyzing nick closure is the E. coli NAD+ dependent DNA ligase. (wikipedia.org)
  • The ligase forms a DNA-adenylate complex, assisting recognition. (wikipedia.org)
  • With human DNA ligase, this forms a crystallized complex. (wikipedia.org)
  • The complex, which has a DNA-adenlyate intermediate, allows DNA Ligase I to institute a conformational change in the DNA for the isolation and subsequent repair of the DNA nick. (wikipedia.org)
  • DNA ligase I is found in eukaryotes and therefore is in the family of ATP-dependent DNA ligases. (wikipedia.org)
  • Activation and recruitment of DNA Ligase I seem to be associated with posttranslational modifications. (wikipedia.org)
  • Eukaryotic DNA ligase 1 catalyzes a reaction that is chemically universal to all ligases. (wikipedia.org)
  • During the AMP transfer step, the DNA ligase becomes associated with the DNA, locates a nick and catalyzes a reaction at the 5' phosphate site of the DNA nick. (wikipedia.org)
  • conformational change
  • Autophosphorylation of DNA-PKcs appears to play a key role in NHEJ and is thought to induce a conformational change that allows end processing enzymes to access the ends of the double-strand break. (wikipedia.org)
  • recognition
  • The amino-terminus of the transposase, which contains the DNA-binding motifs for recognition of the direct repeats (DRs), was restored in steps 5->8. (wikipedia.org)
  • bone marrow
  • Mutational characterisation in multiple myeloma (MM) currently relies on bone marrow (BM) biopsy, which fails to capture the putative spatial and genetic heterogeneity of this multifocal disease. (ovid.com)
  • human
  • Guided by this revelation, we performed a mutational study of structure function relationships with the human TDG. (uzh.ch)
  • 284 47: 32225-38 Assays for the preferential binding of human topoisomerase I to supercoiled DNA. (wikipedia.org)
  • 582 : 49-57 Mutational analysis of the preferential binding of human topoisomerase I to supercoiled DNA. (wikipedia.org)
  • repair
  • On the lagging strand, nicks exist between Okazaki fragments and are easily recognizable by the DNA mismatch repair machinery prior to ligation. (wikipedia.org)
  • DNA-PKcs is required for the non-homologous end joining (NHEJ) pathway of DNA repair, which rejoins double-strand breaks. (wikipedia.org)
  • HMGA2 delays the release of DNA-PKcs from sites of double-strand breaks, interfering with DNA repair by non-homologous end joining and causing chromosomal aberrations. (wikipedia.org)
  • and that increased DNA repair facilitates greater longevity. (wikipedia.org)
  • As an example, they described a study showing that centenarians of 100 to 107 years of age had higher levels of two DNA repair enzymes, PARP1 and Ku70, than general-population old individuals of 69 to 75 years of age. (wikipedia.org)
  • amino
  • Here, we constructed a panel of APOBEC3G amino acid substitution mutants and performed a series of biochemical, genetic, and structural assays to distinguish between "Brim" and "Kink" models for single-strand DNA binding. (mdpi.com)
  • frequent
  • One of the most frequent lesions formed in cellular DNA are abasic (apurinic/apyrimidinic, AP) sites that are both cytotoxic and mutagenic, and must be removed efficiently to maintain genetic stability. (biomedsearch.com)
  • pathways
  • Their importance is attested by the fact most organisms have multiple ligases dedicated to specific pathways of repairing DNA. (wikipedia.org)
  • tumor
  • Patients who were evaluable for tumor mutational burden (TMB) were specifically looked at. (onclive.com)
  • Assay targeting multiple variant types, including tumor mutational burden (TMB) and microsatellite instability (MSI), even from low-quality samples. (illumina.com)
  • These clustering analyses have the power to demonstrate, for instance, cross-cancer consistency in the functional importance of the DNA binding domain of tumor suppressor p53, whether in a cancer with extensive exome data (ovarian serous adenocarcinoma) or in a cancer with much less extensive exome data (e.g. rectal adenocarcinoma). (yale.edu)
  • Elevated DNA-PKcs is thought to be "beneficial to the tumor cells", though it would be at the expense of the patient. (wikipedia.org)
  • BRCA1
  • It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. (wikipedia.org)
  • complementary
  • The complementary population and L0a phylogeography analyses indicate no strong evidence of mtDNA gene flow between eastern and southern populations during the later movement, suggesting low admixture between Eastern African populations and the Bantu migrants. (wikipedia.org)
  • DNA damage can be recognized by enzymes, and thus can be correctly repaired using the complementary undamaged sequence in a homologous chromosome if it is available for copying. (wikipedia.org)
  • complexity
  • Overall, they concluded that while the complexity of responses to DNA damage remains only partly understood, the idea that DNA damage accumulation with age is the primary cause of aging remains an intuitive and powerful one. (wikipedia.org)
  • nuclear
  • Nuclear DNA damage can contribute to aging either indirectly (by increasing apoptosis or cellular senescence) or directly (by increasing cell dysfunction). (wikipedia.org)
  • SMUG1
  • Single-strand selective monofunctional uracil DNA glycosylase is an enzyme that in humans is encoded by the SMUG1 gene. (wikipedia.org)
  • SMUG1 is an important uracil-DNA glycosylases that process uracil in DNA. (wikipedia.org)
  • SMUG1 function is to remove U or its derivatives from DNA. (wikipedia.org)
  • SMUG1 is able to excise uracil from both single- and doubledstranded DNA. (wikipedia.org)
  • antibody
  • Uracil is also introduced into DNA as part of antibody gene diversification and its removal is critical to antibody diversification. (wikipedia.org)
  • molecular
  • A crowdsourced analysis to identify ab initio molecular signatures predictive of susceptibility to viral infection. (clinbioinfosspa.es)
  • Molecular anthropology is a field of anthropology in which molecular analysis is used to determine evolutionary links between ancient and modern human populations, as well as between contemporary species. (wikipedia.org)
  • species
  • While there are clearly many morphological similarities between humans and chimpanzees, for example, certain studies also have concluded that there is roughly a 98 percent commonality between the DNA of both species. (wikipedia.org)
  • When examining closely related species, or branching within species, recombination creates a large number of 'irrelevant SNPs' for cladistic analysis. (wikipedia.org)
  • mice
  • DNA-PKcs knockout mice have severe combined immunodeficiency due to their V(D)J recombination defect. (wikipedia.org)
  • estimates
  • point estimates of the per-generation rate of mutational decay (?M) of these measures of oxidative stress are similar to those reported for fitness-related traits. (jove.com)
  • bound
  • The bound DNA is then coprecipitated, purified, and sequenced. (illumina.com)
  • After size fractionation of FCS and analysis of the lipids that bound to serum albumin, the lysophosphatidic acid (LPA) was found to be responsible for the serum activity that induced stress fibre formation. (wikipedia.org)
  • inactive
  • B) Western blot analysis of SH2B3 expression and JAK-STAT signaling in JURKAT T-ALL cells expressing SH2B3 targeting shRNAs (pLKO-shSH2B3) or an inactive control shRNA (pLKO-shCTRL). (nih.gov)
  • CD1 is catalytically inactive, but very important for binding to DNA and RNA and is key to defining the 5'->3' processivity of APOBEC3G deamination. (wikipedia.org)
  • expression
  • Through the study of DNA and its genetic coding, the process of inheritance and expression of traits can be described scientifically. (apologeticspress.org)
  • A) Western blot analysis of SH2B3 expression and JAK-STAT signaling in lymphoblastoid cells from the proband (noted as SH2B3 D231fs/D231fs*), the affected sibling (SH2B3 D231fs/D231fs), and an SH2B3 wild-type healthy control. (nih.gov)
  • mouse
  • DNA from a rhabdomyosarcoma cell line and a fibrosarcoma cell line transformed a NIH/3T3 mouse fibroblast cell line. (wikipedia.org)
  • cell cycle
  • D) CFSE dilution analysis of cell cycle kinetics in SH2B3 patient-derived SH2B3 mutant lymphoblastoid cells in 1% FBS containing media. (nih.gov)
  • cells
  • After ionizing radiation DNA-PKcs was increased in the surviving cells of oral squamous cell carcinoma tissues. (wikipedia.org)
  • That is, in ATM-mutant cells, an inhibitor of DNA-PKcs causes high levels of apoptotic cell death. (wikipedia.org)
  • The accumulation of unrepaired DNA damage is more prevalent in certain types of cells, particularly in non-replicating or slowly replicating cells, such as cells in the brain, skeletal and cardiac muscle. (wikipedia.org)
  • Given these properties of DNA damage and mutation, it can be seen that DNA damages are a special problem in non-dividing or slowly dividing cells, where unrepaired damages will tend to accumulate over time. (wikipedia.org)
  • FU is thought to kill cells via the inhibition of thymidylate synthase and also deprive cells of TTP during DNA replication, which leads to the introduction of uracil in DNA causing the fragmentation of newly synthesized DNA. (wikipedia.org)
  • excision
  • Nucleotide excision repair (NER) is a major pathway for repairing a variety of bulky DNA damages including those introduced by UV irradiation. (wikipedia.org)
  • Mouse models of nucleotide-excision-repair syndromes reveal a striking correlation between the degree to which specific DNA repair pathways are compromised and the severity of accelerated aging, strongly suggesting a causal relationship. (wikipedia.org)
  • lesions
  • citation needed] In estimates made for mice, DNA lesions occur on average 25 to 115 times per minute in each cell, or about 36,000 to 160,000 per cell per day. (wikipedia.org)