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https://www.readbyqxmd.com/read/27907109/loss-of-h3k9me3-correlates-with-atm-activation-and-histone-h2ax-phosphorylation-deficiencies-in-hutchinson-gilford-progeria-syndrome
#1
Haoyue Zhang, Linlin Sun, Kun Wang, Di Wu, Mason Trappio, Celeste Witting, Kan Cao
Compelling evidence suggests that defective DNA damage response (DDR) plays a key role in the premature aging phenotypes in Hutchinson-Gilford progeria syndrome (HGPS). Studies document widespread alterations in histone modifications in HGPS cells, especially, the global loss of histone H3 trimethylated on lysine 9 (H3K9me3). In this study, we explore the potential connection(s) between H3K9me3 loss and the impaired DDR in HGPS. When cells are exposed to a DNA-damaging agent Doxorubicin (Dox), double strand breaks (DSBs) are generated that result in the phosphorylation of histone H2A variant H2AX (gammaH2AX) within an hour...
2016: PloS One
https://www.readbyqxmd.com/read/27902704/methylation-of-breast-cancer-predisposition-genes-in-early-onset-breast-cancer-australian-breast-cancer-family-registry
#2
Cameron M Scott, JiHoon Eric Joo, Neil O'Callaghan, Daniel D Buchanan, Mark Clendenning, Graham G Giles, John L Hopper, Ee Ming Wong, Melissa C Southey
DNA methylation can mimic the effects of both germline and somatic mutations for cancer predisposition genes such as BRCA1 and p16INK4a. Constitutional DNA methylation of the BRCA1 promoter has been well described and is associated with an increased risk of early-onset breast cancers that have BRCA1-mutation associated histological features. The role of methylation in the context of other breast cancer predisposition genes has been less well studied and often with conflicting or ambiguous outcomes. We examined the role of methylation in known breast cancer susceptibility genes in breast cancer predisposition and tumor development...
2016: PloS One
https://www.readbyqxmd.com/read/27902686/genomic-characterization-of-metformin-hepatic-response
#3
Marcelo R Luizon, Walter L Eckalbar, Yao Wang, Stacy L Jones, Robin P Smith, Megan Laurance, Lawrence Lin, Paul J Gallins, Amy S Etheridge, Fred Wright, Yihui Zhou, Cliona Molony, Federico Innocenti, Sook Wah Yee, Kathleen M Giacomini, Nadav Ahituv
Metformin is used as a first-line therapy for type 2 diabetes (T2D) and prescribed for numerous other diseases. However, its mechanism of action in the liver has yet to be characterized in a systematic manner. To comprehensively identify genes and regulatory elements associated with metformin treatment, we carried out RNA-seq and ChIP-seq (H3K27ac, H3K27me3) on primary human hepatocytes from the same donor treated with vehicle control, metformin or metformin and compound C, an AMP-activated protein kinase (AMPK) inhibitor (allowing to identify AMPK-independent pathways)...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27895165/rats-with-a-missense-mutation-in-atm-display-neuroinflammation-and-neurodegeneration-subsequent-to-accumulation-of-cytosolic-dna-following-unrepaired-dna-damage
#4
Hazel Quek, John Luff, KaGeen Cheung, Sergei Kozlov, Magtouf Gatei, C Soon Lee, Mark C Bellingham, Peter G Noakes, Yi Chieh Lim, Nigel L Barnett, Steven Dingwall, Ernst Wolvetang, Tomoji Mashimo, Tara L Roberts, Martin F Lavin
Mutations in the ataxia-telangiectasia (A-T)-mutated (ATM) gene give rise to the human genetic disorder A-T, characterized by immunodeficiency, cancer predisposition, and neurodegeneration. Whereas a series of animal models recapitulate much of the A-T phenotype, they fail to present with ataxia or neurodegeneration. We describe here the generation of an Atm missense mutant [amino acid change of leucine (L) to proline (P) at position 2262 (L2262P)] rat by intracytoplasmic injection (ICSI) of mutant sperm into oocytes...
November 28, 2016: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/27890934/egr2-mutations-define-a-new-clinically-aggressive-subgroup-of-chronic-lymphocytic-leukemia
#5
E Young, D Noerenberg, L Mansouri, V Ljungström, M Frick, L-A Sutton, S J Blakemore, J Galan-Sousa, K Plevova, P Baliakas, D Rossi, R Clifford, D Roos-Weil, V Navrkalova, B Dörken, C A Schmitt, K E Smedby, G Juliusson, B Giacopelli, J S Blachly, C Belessi, P Panagiotidis, N Chiorazzi, F Davi, A W Langerak, D Oscier, A Schuh, G Gaidano, P Ghia, W Xu, L Fan, O A Bernard, F Nguyen-Khac, L Rassenti, J Li, T J Kipps, K Stamatopoulos, S Pospisilova, T Zenz, C C Oakes, J C Strefford, R Rosenquist, F Damm
Recurrent mutations within EGR2 were recently reported in advanced-stage chronic lymphocytic leukemia (CLL) patients and associated with a worse outcome. To study their prognostic impact, 2403 CLL patients were examined for mutations in the EGR2 hotspot region including a screening (n=1283) and two validation cohorts (UK CLL4 trial patients, n=366; CLL Research Consortium (CRC) patients, n=490). Targeted deep-sequencing of 27 known/postulated CLL driver genes was also performed in 38 EGR2-mutated patients to assess concurrent mutations...
November 28, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#6
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27879648/the-role-of-deoxycytidine-kinase-dck-in-radiation-induced-cell-death
#7
Rui Zhong, Rui Xin, Zongyan Chen, Nan Liang, Yang Liu, Shumei Ma, Xiaodong Liu
Deoxycytidine kinase (dCK) is a key enzyme in deoxyribonucleoside salvage and the anti-tumor activity for many nucleoside analogs. dCK is activated in response to ionizing radiation (IR)-induced DNA damage and it is phosphorylated on Serine 74 by the Ataxia-Telangiectasia Mutated (ATM) kinase in order to activate the cell cycle G2/M checkpoint. However, whether dCK plays a role in radiation-induced cell death is less clear. In this study, we genetically modified dCK expression by knocking down or expressing a WT (wild-type), S74A (abrogates phosphorylation) and S74E (mimics phosphorylation) of dCK...
November 21, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27879207/integration-free-erythroblast-derived-human-induced-pluripotent-stem-cells-ipscs-from-an-individual-with-ataxia-telangiectasia-a-t
#8
Niraj Bhatt, Rajib Ghosh, Sanchita Roy, Yongxing Gao, Mary Armanios, Linzhao Cheng, Sonia Franco
Peripheral blood was obtained from a 12-year old male carrying bialleleic inactivating mutations at the ATM locus, causing Ataxia-Telangiectasia (A-T). Blood erythroid cells were briefly expanded in vitro and induced pluripotent stem cells (iPSCs) were generated via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF4, hMYC and hBCL2L1. SF-003 iPSCs were free of genomically integrated reprogramming genes, had the specific compound heterozygous mutations, stable karyotype, expressed pluripotency markers and formed teratomas in immunodeficient (NOD scid gamma; NGS) mice...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27878467/outcomes-of-retesting-brca-negative-patients-using-multigene-panels
#9
Siddhartha Yadav, Ashley Reeves, Sarah Campian, Amy Paine, Dana Zakalik
The utility of multigene panels in retesting patients who previously tested negative for a pathogenic mutation by BRCA1/2 testing is not well established. Patients who previously tested negative for a pathogenic BRCA1/2 mutation by standard sequencing, and who were seen in cancer genetics center between November 1, 2012 and June 30, 2015 for additional testing utilizing multigene panels, were identified using our genetic testing registry. Data on demographics, personal and family history of cancer, results of panel testing and the impact on patient management was collected retrospectively...
November 22, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27874324/interaction-between-radioadaptive-response-and-radiation-induced-bystander-effect-in-caenorhabditis-elegans-a-unique-role-of-the-dna-damage-checkpoint
#10
Huangqi Tang, Liangwen Chen, Lianyun Chen, Bin Chen, Ting Wang, Aifeng Yang, Furu Zhan, Lijun Wu, Po Bian
Although radioadaptive responses (RAR) and radiation-induced bystander effects (RIBE) are two important biological effects of low-dose radiation, there are currently only limited data that directly address their interaction, particularly in the context of whole organisms. In previous studies, we separately demonstrated RAR and RIBE using an in vivo system of C. elegans . In the current study, we further investigated their interaction in C. elegans , with the ratio of protruding vulva as the biological end point for RAR...
November 22, 2016: Radiation Research
https://www.readbyqxmd.com/read/27871447/novel-compound-heterozygous-mutations-in-a-child-with-ataxia-telangiectasia-showing-unrelated-cerebellar-disorders
#11
Maria Piane, Anna Molinaro, Annarosa Soresina, Silvia Costa, Marianna Maffeis, Aldo Germani, Lorenzo Pinelli, Roberta Meschini, Alessandro Plebani, Luciana Chessa, Roberto Micheli
We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27857169/mobile-phone-signal-exposure-triggers-a-hormesis-like-effect-in-atm-and-atm-mouse-embryonic-fibroblasts
#12
Chuan Sun, Xiaoxia Wei, Yue Fei, Liling Su, Xinyuan Zhao, Guangdi Chen, Zhengping Xu
Radiofrequency electromagnetic fields (RF-EMFs) have been classified by the International Agency for Research on Cancer as possible carcinogens to humans; however, this conclusion is based on limited epidemiological findings and lacks solid support from experimental studies. In particular, there are no consistent data regarding the genotoxicity of RF-EMFs. Ataxia telangiectasia mutated (ATM) is recognised as a chief guardian of genomic stability. To address the debate on whether RF-EMFs are genotoxic, we compared the effects of 1,800 MHz RF-EMF exposure on genomic DNA in mouse embryonic fibroblasts (MEFs) with proficient (Atm(+/+)) or deficient (Atm(-/-)) ATM...
November 18, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27844328/molecular-profiling-of-thymoma-and-thymic-carcinoma-genetic-differences-and-potential-novel-therapeutic-targets
#13
Franz Enkner, Bettina Pichlhöfer, Alexandru Teodor Zaharie, Milica Krunic, Tina Maria Holper, Stefan Janik, Bernhard Moser, Karin Schlangen, Barbara Neudert, Karin Walter, Brigitte Migschitz, Leonhard Müllauer
Thymoma and thymic carcinoma are thymic epithelial tumors (TETs). We performed a molecular profiling to investigate the pathogenesis of TETs and identify novel targets for therapy. We analyzed 37 thymomas (18 type A, 19 type B3) and 35 thymic carcinomas. The sequencing of 50 genes detected nonsynonymous mutations in 16 carcinomas affecting ALK, ATM, CDKN2A, ERBB4, FGFR3, KIT, NRAS and TP53. Only two B3 thymomas had a mutation in noncoding regions of the SMARCB1 and STK11 gene respectively. Three type A thymomas harbored a nonsynonymous HRAS mutation...
November 14, 2016: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/27842457/wharton-s-jelly-mesenchymal-stem-cells-protect-the-immature-brain-in-rats-and-modulate-cell-fate
#14
Martin Mueller, Byron Oppliger, Marianne Jörger-Messerli, Ursula Reinhart, Eytan Barnea, Michael Paidas, Boris Kramer, Daniel Surbek, Andreina Schoeberlein
The development of a mammalian brain is a complex and long-lasting process. Not surprisingly, preterm birth is the leading cause of death in newborns and children. Advances in perinatal care reduced mortality but morbidity still represents a major burden. New therapeutic approaches are thus desperately needed. Given that mesenchymal stem/stromal cells (MSCs) emerged as a promising candidate for cell therapy, we transplanted MSCs derived from the Wharton`s jelly (WJ-MSCs) to reduce the burden of immature brain injury in a murine animal model...
November 14, 2016: Stem Cells and Development
https://www.readbyqxmd.com/read/27836727/modulation-of-the-dna-damage-response-during-the-life-cycle-of-human-papillomaviruses
#15
REVIEW
Daniel C Anacker, Cary A Moody
Human papillomavirus (HPV) is the most common sexually transmitted viral infection. Infection with certain types of HPV pose a major public health risk as these types are associated with multiple human cancers, including cervical cancer, other anogenital malignancies and an increasing number of head and neck cancers. The HPV life cycle is closely tied to host cell differentiation with late viral events such as structural gene expression and viral genome amplification taking place in the upper layers of the stratified epithelium...
November 8, 2016: Virus Research
https://www.readbyqxmd.com/read/27829214/pict-1-is-a-key-nucleolar-sensor-in-dna-damage-response-signaling-that-regulates-apoptosis-through-the-rpl11-mdm2-p53-pathway
#16
Hongbo Chen, Liqiao Han, Hsiangi Tsai, Zhiwei Wang, Yanping Wu, Yanhong Duo, Wei Cao, Lijun Chen, Zhirong Tan, Ning Xu, Xianzhang Huang, Junhua Zhuang, Laiqiang Huang
PICT-1 is an essential ribosome biogenesis factor whose loss induces p53 accumulation and apoptosis. Here, we show that DNA damage changes PICT-1 localization and decreases PICT-1 protein levels via the proteasome pathway. Two important phosphatidylinositol 3-kinase-like kinases (PIKKs), ataxia-telangiectasia mutated (ATM) and the Ku70 subunit of DNA-dependent protein kinase (DNA-PK), co-localize and interact with PICT-1 in the nucleolus. Computational prediction of phosphorylation sites and detection using an anti-phospho-substrate antibody suggest that PICT-1 might be a substrate of PIKKs...
November 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27823642/atm-mutation-and-radiosensitivity-an-opportunity-in-the-therapy-of-mantle-cell-lymphoma
#17
REVIEW
Makhdum Ahmed, Lei Li, Chelsea Pinnix, Bouthaina Dabaja, Krystle Nomie, Laura Lam, Michael Wang
ATM (ataxia telangiectasia mutated) is a DNA damage signaling-initiation kinase which has diverse function in responding to genotoxic stress to maintain its genomic integrity. Cells harboring loss-of-function ATM deficiencies demonstrate extreme radiosensitivity. The scope of radiotherapy has been considered very limited among patients with biallelic mutations or deletions of ATM due to its toxic effect on normal tissue. Mantle cell lymphoma (MCL) is a highly chemo-refractory tumor with generally poor outcome, especially if the patients develop resistance to frontline drugs...
November 2016: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/27821802/role-of-dna-repair-machinery-and-p53-in-the-testicular-germ-cell-cancer-a-review
#18
REVIEW
Francesco Jacopo Romano, Sabrina Rossetti, Vincenza Conteduca, Giuseppe Schepisi, Carla Cavaliere, Rossella Di Franco, Elvira Lamantia, Luigi Castaldo, Flavia Nocerino, Gianluca Ametrano, Francesca Cappuccio, Gabriella Malzone, Micaela Montanari, Daniela Vanacore, Vincenzo Quagliariello, Raffaele Piscitelli, Maria Filomena Pepe, Massimiliano Berretta, Carmine D'Aniello, Sisto Perdonà, Paolo Muto, Gerardo Botti, Gennaro Ciliberto, Bianca Maria Veneziani, Francesco De Falco, Piera Maiolino, Michele Caraglia, Maurizio Montella, Ugo De Giorgi, Gaetano Facchini
Notwithstanding the peculiar sensitivity to cisplatin-based treatment, resulting in a very high percentage of cures even in advanced stages of the disease, still we do not know the biological mechanisms that make Testicular Germ Cell Tumor (TGCT) "unique" in the oncology scene. p53 and MDM2 seem to play a pivotal role, according to several in vitro observations, but no correlation has been found between their mutational or expression status in tissue samples and patients clinical outcome. Furthermore, other players seem to be on stage: DNA Damage Repair Machinery (DDR) , especially Homologous Recombination (HR) proteins, above all Ataxia Telangiectasia Mutated (ATM), cooperates with p53 in response to DNA damage, activating apoptotic cascade and contributing to cell "fate"...
November 3, 2016: Oncotarget
https://www.readbyqxmd.com/read/27814680/ataxia-telangiectasia-mutated-atm-interacts-with-p400-atpase-for-an-efficient-dna-damage-response
#19
Rebecca J Smith, Matthew S Savoian, Lauren E Weber, Jeong Hyeon Park
BACKGROUND: Ataxia telangiectasia mutated (ATM) and TRRAP proteins belong to the phosphatidylinositol 3-kinase-related kinase family and are involved in DNA damage repair and chromatin remodeling. ATM is a checkpoint kinase that is recruited to sites of DNA double-strand breaks where it phosphorylates a diverse range of proteins that are part of the chromatin and DNA repair machinery. As an integral subunit of the TRRAP-TIP60 complexes, p400 ATPase is a chromatin remodeler that is also targeted to DNA double-strand break sites...
November 4, 2016: BMC Molecular Biology
https://www.readbyqxmd.com/read/27798748/revisiting-breast-cancer-patients-who-previously-tested-negative-for-brca-mutations-using-a-12-gene-panel
#20
Olivia Moran, Dina Nikitina, Robert Royer, Aletta Poll, Kelly Metcalfe, Steven A Narod, Mohammad R Akbari, Joanne Kotsopoulos
PURPOSE: BRCA mutations contribute to about 20% of all hereditary breast cancers. With full-genome sequencing as the emerging standard for genetic testing, other breast cancer susceptibility genes have been identified and may collectively contribute to up to 30% of all hereditary breast cancers. We re-assessed women who had previously tested negative for a BRCA mutation when outdated techniques were used, and discuss the implications of identifying a mutation several years after initial genetic testing...
October 31, 2016: Breast Cancer Research and Treatment
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