• Researchers have identified several hundred variants (also called mutations) in the ATM gene that cause ataxia-telangiectasia. (medlineplus.gov)
  • These genetic syndromes are caused by hereditary errors, called mutations, in the genetic code or DNA. (cancercenter.com)
  • Inherited mutations in some genes have been linked to an increased risk for pancreatic cancer. (cancercenter.com)
  • She is also known for her work with DNA gene mutations. (wikipedia.org)
  • The most prominent target gene is BRCA, in which mutations were first identified in breast cancer and ovarian cancer. (biomedcentral.com)
  • Pancreatic cancer has also been reported to have a strong relationship with BRCA gene mutations, which indicates that pancreatic cancer patients may benefit from PARP inhibitors. (biomedcentral.com)
  • BRCA1 and BRCA2 genes are considered susceptibility genes in hereditary breast cancer but are also involved in important metabolic functions of cell life. (oncotarget.com)
  • According to some comprehensive genomic analyses, four major driver genes have been identified in pancreatic cancer: KRAS, CDKN2A, TP53, and SMAD4. (biomedcentral.com)
  • Pancreatic cancer is the third most common cancer related to early-onset gene mutation in breast cancer (BRCA, breast cancer susceptibility genes) as well as ovarian cancer. (biomedcentral.com)
  • The immune system can be affected in a subset of these disorders leading to susceptibility to infections and autoimmunity. (mdpi.com)
  • Jeggo is particularly well known for identifying two components of an enzyme called DNA-dependent protein kinase (DNA-PK) as being important in DNA non-homologous end joining (NHEJ), a pathway by which mammalian cells repair themselves. (wikipedia.org)
  • In the p53 pathway, the gene activates its transcriptional target p21 which is an inhibitor of cyclin / cdk2 as they work for the progression of replication and inactivates RB. (ijpsr.com)
  • Pathway enrichment analysis was performed to identify potential target genes to be analyzed in the validation step in an independent cohort. (oncotarget.com)
  • We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)
  • The patients, commonly complicated with cardiovascular diseases and neurologic disorders, are at high risk to progress into end-stage renal disease (ESRD) and death. (hindawi.com)
  • Infections in DNA repair defects may occur due to primary defects in T, B, or NK cells and other factors such as anatomic defects, neurologic disorders, or during chemotherapy. (mdpi.com)
  • The ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide. (medlineplus.gov)
  • Cells without any functional ATM protein are hypersensitive to radiation and do not respond normally to DNA damage. (medlineplus.gov)
  • Instead of activating DNA repair, the altered ATM protein allows variants to accumulate in other genes, which may cause cells to grow and divide in an uncontrolled way. (medlineplus.gov)
  • Using standard techniques of microbial genetics, she tested more than 9,000 colonies before isolating six X-ray-sensitive mutants. (wikipedia.org)
  • In certain metabolic disorders ( ADA and PNP deficiency) enzyme substitution therapy can be applied. (lu.se)
  • Several PAR-binding modules orchestrate the relocation of DDR-associated factors in addition to the accumulation of intrinsically disordered proteins through an intracellular liquid demixing mechanism 11 , 12 . (nature.com)
  • Did you know that your baby's cord blood is rich in stem cells that may be used as therapy in some cancers (such as leukemia), immune system disorders, and blood diseases (such as anemia)? (motherhoodcommunity.com)
  • As inactivation of BRCA1/2 leads to impaired HR, it has been investigated whether mutation carriers would be sensitive to DNA cross-linking agents, such as platinum salts, as they introduce DSBs. (oncotarget.com)
  • Mutation gene sequencing has shown several gene associations that may account for its carcinogenesis, revealing a promising research direction. (biomedcentral.com)
  • Hall J. The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants. (medlineplus.gov)
  • Senescent cells are involved in exacerbating various kinds of age-related disorders such as diabetes, obesity, cardiovascular diseases, neurodegenerative diseases, etc . (ijpsr.com)
  • miR-361-5p and miR-151-5p were found to be overexpressed in PARP1-upregulating BRCA-germline mutated and sporadic breast tumors. (oncotarget.com)
  • Although the incidence of acute nonlymphocytic leukemia is increased in PV, the incidence of acute leukemia in patients not exposed to chemotherapy or radiation therapy is low. (basicmedicalkey.com)
  • 1) Antibody deficiency disorders are defects in immunoglobulin-producing B cells . (lu.se)
  • PV is generally an indolent disorder, the clinical course of which is measured in decades, and its management should reflect its tempo. (basicmedicalkey.com)
  • The incidence of PIDs varies greatly from about 1:500 births with selective IgA deficiency to only a few known cases for the rarest disorders. (lu.se)
  • In addition, ATM gene variants can allow cells to die inappropriately, particularly affecting cells in a part of the brain involved in coordinating movements (the cerebellum). (medlineplus.gov)
  • Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)
  • In particular, some studies have shown that cancers of the breast, stomach, bladder, pancreas, lung, and ovaries occur more frequently in ATM gene variant carriers than in people who do not carry these variants. (medlineplus.gov)
  • PARP-1 acts as a highly sensitive sensor for DNA damage and rapidly produces PAR at newly generated DNA DSBs. (nature.com)
  • This loss of brain cells causes the movement problems characteristic of ataxia-telangiectasia. (medlineplus.gov)
  • Senescent cells show a distinctive feature called Senescent associated secretory phenotypes (SASP) which includes increased expression of p16 and Beta-galactosidase can be used as a marker for senescent cells. (ijpsr.com)
  • With the loss of replicative inability changes in metabolism, gene expression and epigenetic regulation also take place. (ijpsr.com)
  • De Murcia and colleagues provided the first evidence implicating PARP-1 in DNA repair by demonstrating that PARP-1-deficient mice are highly sensitive to γ-irradiation 21 . (nature.com)
  • Finally, Tfam+/− mice exposed to ionizing radiation exhibit enhanced nDNA repair responses in spleen. (regenerativemedicine.net)
  • Early diagnosis is important because the tumor may be fatal if undiagnosed, especially in pregnant women during delivery or in patients undergoing surgery for other disorders. (medscape.com)
  • Jeggo has almost 170 publication that pertain to DNA damage, radiation, and cancer research and has received 3 top science awards/medals for her research. (wikipedia.org)
  • Jeggo was an invited speakers for the symposium on DNA damage response to radiation in 2015 at the International Congress of Radiation Research (ICRR). (wikipedia.org)
  • they act as longevity assurance genes as they prevent genome damage, on the other hand, gatekeepers act on intact cells and eliminate potential cancer cells by inducing apoptosis and cellular senescence and prevent the development of cancer 5 . (ijpsr.com)
  • Most PIDs are relatively rare disorders. (lu.se)
  • these organizations include Committee on Medical Aspects of Radiation in the Environment (COMARE), National Institute for Radiation Science laboratory researcher, and the Multidisciplinary European Low Dose Initiative (MELODI). (wikipedia.org)
  • Additional research is needed to clarify which other types of cancer, if any, are associated with ATM gene variants. (medlineplus.gov)
  • People with this disorder have variants in both copies of the ATM gene in each cell. (medlineplus.gov)
  • Penelope Jeggo has been very active in various symposiums and conventions where she has discussed her research and given talks on cell biology in relation to radiation biology. (wikipedia.org)
  • The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. (lookformedical.com)
  • Peptic ulcer disease can also be due to Helicobacter pylori infection, the incidence of which is increased in PV, while the pruritus associated with this disorder may be a consequence of mast cell activation by JAK2 V617F. (basicmedicalkey.com)
  • Thousands of copies of the circular mtDNA are present in most cell types that are packaged by TFAM into higher-order structures called nucleoids1. (regenerativemedicine.net)