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Bloom Syndrome

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https://www.readbyqxmd.com/read/29194355/characterization-of-the-ebv-induced-persistent-dna-damage-response
#1
Amy Y Hafez, Micah A Luftig
Epstein-Barr virus (EBV) is an oncogenic herpesvirus that is ubiquitous in the human population. Early after EBV infection in vitro, primary human B cells undergo a transient period of hyper-proliferation, which results in replicative stress and DNA damage, activation of the DNA damage response (DDR) pathway and, ultimately, senescence. In this study, we investigated DDR-mediated senescence in early arrested EBV-infected B cells and characterized the establishment of persistent DNA damage foci. We found that arrested EBV-infected B cells exhibited an increase in promyelocytic leukemia nuclear bodies (PML NBs), which predominantly localized to markers of DNA damage, as well as telomeric DNA...
December 1, 2017: Viruses
https://www.readbyqxmd.com/read/29098565/immunodeficiency-in-bloom-s-syndrome
#2
Michiel H D Schoenaker, Stefanie S Henriet, Jip Zonderland, Marcel van Deuren, Qiang Pan-Hammarström, Sandra J Posthumus-van Sluijs, Ingrid Pico-Knijnenburg, Corry M R Weemaes, Hanna IJspeert
Bloom's syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B cells. Since BLM is involved in DNA repair, we aimed to study if BLM deficiency affects T and B cell development and especially somatic hypermutation (SHM) and class switch recombination (CSR) processes. Clinical data of six BS patients was collected, and immunoglobulin serum levels were measured at different time points...
November 2, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29095808/harmful-algal-bloom-associated-illnesses-in-humans-and-dogs-identified-through-a-pilot-surveillance-system-new-york-2015
#3
Mary Figgatt, James Hyde, David Dziewulski, Eric Wiegert, Scott Kishbaugh, Grant Zelin, Lloyd Wilson
Cyanobacteria, also known as blue-green algae, are photosynthetic, aquatic organisms found in fresh, brackish, and marine water around the world (1). Rapid proliferation and accumulation of potentially toxin-producing cyanobacteria characterize one type of harmful algal bloom (HAB). HABs have the potential to cause illness in humans and animals (2,3); however, the epidemiology of these illnesses has not been well characterized. Statewide in 2015, a total of 139 HABs were identified in New York, 97 (70%) of which were confirmed through laboratory analysis; 77 independent beach closures were ordered at 37 beaches on 20 different bodies of water...
November 3, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29080750/human-recql4-helicase-plays-multifaceted-roles-in-the-genomic-stability-of-normal-and-cancer-cells
#4
Dongliang Mo, Yongliang Zhao, Adayabalam S Balajee
Human RecQ helicases that share homology with E.coli RecQ helicase play critical roles in diverse biological activities such as DNA replication, transcription, recombination and repair. Mutations in three of the five human RecQ helicases (RecQ1, WRN, BLM, RecQL4 and RecQ5) result in autosomal recessive syndromes characterized by accelerated aging symptoms and cancer incidence. Mutational inactivation of Werner (WRN) and Bloom (BLM) genes results in Werner syndrome (WS) and Bloom syndrome (BS) respectively. However, mutations in RecQL4 result in three human disorders: (I) Rothmund-Thomson syndrome (RTS), (II) RAPADILINO and (III) Baller-Gerold syndrome (BGS)...
November 7, 2017: Cancer Letters
https://www.readbyqxmd.com/read/29056561/bloom-syndrome-does-not-always-present-with-sun-sensitive-facial-erythema
#5
Arjan Bouman, Silvana van Koningsbruggen, M Bariş Karakullukcu, Willem Hans Schreuder, Phillis Lakeman
Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and "typical" erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped distribution around the nose and is usually observed for the first time during the early years of life. Though reported as being a main feature of Bloom syndrome, there seems to be phenotypic variability regarding this facial skin rash among patients...
October 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29042409/recq-like-helicases-sgs1-and-blm-regulate-r-loop-associated-genome-instability
#6
Emily Yun-Chia Chang, Carolina A Novoa, Maria J Aristizabal, Yan Coulombe, Romulo Segovia, Richa Chaturvedi, Yaoqing Shen, Christelle Keong, Annie S Tam, Steven J M Jones, Jean-Yves Masson, Michael S Kobor, Peter C Stirling
Sgs1, the orthologue of human Bloom's syndrome helicase BLM, is a yeast DNA helicase functioning in DNA replication and repair. We show that SGS1 loss increases R-loop accumulation and sensitizes cells to transcription-replication collisions. Yeast lacking SGS1 accumulate R-loops and γ-H2A at sites of Sgs1 binding, replication pausing regions, and long genes. The mutation signature of sgs1Δ reveals copy number changes flanked by repetitive regions with high R-loop-forming potential. Analysis of BLM in Bloom's syndrome fibroblasts or by depletion of BLM from human cancer cells confirms a role for Sgs1/BLM in suppressing R-loop-associated genome instability across species...
October 17, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/29041934/h-syndrome-5-new-cases-from-the-united-states-with-novel-features-and-responses-to-therapy
#7
Jessica L Bloom, Clara Lin, Lisa Imundo, Stephen Guthery, Shelly Stepenaskie, Csaba Galambos, Amy Lowichik, John F Bohnsack
BACKGROUND: H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations in SLC29A3, a gene located on chromosome 10q23, which encodes the human equilibrative transporter 3 (hENT3). Less than 100 patients with H syndrome have been described in the literature, with the majority being of Arab descent, and only a few from North America. CASE PRESENTATION: Here we report five pediatric patients from three medical centers in the United States who were identified to have H syndrome by whole exome sequencing...
October 17, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29018016/successful-treatment-of-community-acquired-methicillin-resistant-staphylococcus-aureus-purulent-myopericarditis
#8
Henry DeYoung, Adam Bloom, Sally Tamayo
A previously healthy 48-year-old active duty man, who had been treated for an elbow abscess 3 weeks earlier, presented to an emergency department in Bahrain with tachycardia, pericardial friction rub and jugular venous distention. Cardiac tamponade was confirmed on transthoracic echocardiogram and he was taken for emergent pericardiocentesis. Pericardial fluid cultures grew community-acquired methicillin-resistant Staphylococcus aureus Despite ongoing treatment with intravenous vancomycin, he developed a recurrent fibrinous pericardial effusion and constrictive pericarditis requiring pericardiectomy...
October 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28988422/comparison-of-two-cytoreductive-regimens-for-%C3%AE-%C3%AE-t-cell-depleted-haploidentical-hsct-in-pediatric-malignancies-improved-engraftment-and-outcome-with-tbi-based-regimen
#9
Elad Jacoby, Nira Varda-Bloom, Gal Goldstein, Daphna Hutt, Chaim Churi, Helly Vernitsky, Amos Toren, Bella Bielorai
BACKGROUND: Graft manipulation using selective depletion of αβ-T cells provides a source of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) enriched in effector cells. We report our experience implementing this haplo-HSCT for high-risk malignancies in pediatric patients focusing on the conditioning regimen. PROCEDURE: We performed a retrospective study of patients who underwent T-cell receptor αβ-depleted haplo-HSCT for high-risk pediatric malignancies...
October 8, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28978405/a-new-brct-binding-mode-in-topbp1-blm-helicase-interaction
#10
Georges Mer, Maria Victoria Botuyan
Tandem BRCT domains are phophoprotein binding modules. In this issue of Structure, Sun et al. (2017) show that a single BRCT domain in TopBP1 binds tightly and specifically to phosphorylated Bloom syndrome helicase (BLM). This work reveals a novel BRCT binding mode and suggests a similar mechanism for TopBP1 interaction with 53BP1.
October 3, 2017: Structure
https://www.readbyqxmd.com/read/28960803/clinical-report-warsaw-breakage-syndrome-with-small-radii-and-fibulae
#11
Sarah Eppley, Robert J Hopkin, Bryce Mendelsohn, Anne M Slavotinek
We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants-c.1523T>G, predicting (p.Leu508Arg) and c.1949-1G>A (IVS19-1G>A), that were confirmed with Sanger sequencing in both affected individuals. DDX11 encodes an iron-sulfur-containing DNA helicase, and mutations in this gene have been reported in the five WABS cases previously identified to date...
September 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28947735/a-role-for-tau-protein-in-maintaining-ribosomal-dna-stability-and-cytidine-deaminase-deficient-cell-survival
#12
Elias Bou Samra, Géraldine Buhagiar-Labarchède, Christelle Machon, Jérôme Guitton, Rosine Onclercq-Delic, Michael R Green, Olivier Alibert, Claude Gazin, Xavier Veaute, Mounira Amor-Guéret
Cells from Bloom's syndrome patients display genome instability due to a defective BLM and the downregulation of cytidine deaminase. Here, we use a genome-wide RNAi-synthetic lethal screen and transcriptomic profiling to identify genes enabling BLM-deficient and/or cytidine deaminase-deficient cells to tolerate constitutive DNA damage and replication stress. We found a synthetic lethal interaction between cytidine deaminase and microtubule-associated protein Tau deficiencies. Tau is overexpressed in cytidine deaminase-deficient cells, and its depletion worsens genome instability, compromising cell survival...
September 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28943928/recq-helicase-blm-regulates-prostate-cancer-cell-proliferation-and-apoptosis
#13
Xiaosong Qian, Sujuan Feng, Dawei Xie, Dalin Feng, Yihang Jiang, Xiaodong Zhang
Prostate cancer (PCa) is a common malignant tumor and the second leading cause of morbidity and mortality in men worldwide. Considering the prevalence and effects of PCa in males, an understanding of the molecular mechanisms underlying PCa tumorigenesis are essential and may provide novel therapeutic strategies for treating PCa. Bloom syndrome protein (BLM) is a member of the RecQ helicase family. The major function of BLM is to uncoil the double-stranded DNA structure. It has previously been demonstrated that BLM acts as a 'genome caretaker', and dysregulation of BLM function has been implicated in the development of multiple tumor types; however, its potential for inducing PCa tumorigenesis remains undetermined...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28919440/structural-insight-into-blm-recognition-by-topbp1
#14
Luxin Sun, Yuhao Huang, Ross A Edwards, Sukmin Yang, Andrew N Blackford, Wojciech Niedzwiedz, J N Mark Glover
Topoisomerase IIβ binding protein 1 (TopBP1) is a critical protein-protein interaction hub in DNA replication checkpoint control. It was proposed that TopBP1 BRCT5 interacts with Bloom syndrome helicase (BLM) to regulate genome stability through either phospho-Ser304 or phospho-Ser338 of BLM. Here we show that TopBP1 BRCT5 specifically interacts with the BLM region surrounding pSer304, not pSer338. Our crystal structure of TopBP1 BRCT4/5 bound to BLM reveals recognition of pSer304 by a conserved pSer-binding pocket, and interactions between an FVPP motif N-terminal to pSer304 and a hydrophobic groove on BRCT5...
September 1, 2017: Structure
https://www.readbyqxmd.com/read/28854728/a-second-dose-of-kisspeptin-54-improves-oocyte-maturation-in-women-at-high-risk-of-ovarian-hyperstimulation-syndrome-a-phase-2-randomized-controlled-trial
#15
Ali Abbara, Sophie Clarke, Rumana Islam, Julia K Prague, Alexander N Comninos, Shakunthala Narayanaswamy, Deborah Papadopoulou, Rachel Roberts, Chioma Izzi-Engbeaya, Risheka Ratnasabapathy, Alexander Nesbitt, Sunitha Vimalesvaran, Rehan Salim, Stuart A Lavery, Stephen R Bloom, Les Huson, Geoffrey H Trew, Waljit S Dhillo
STUDY QUESTION: Can increasing the duration of LH-exposure with a second dose of kisspeptin-54 improve oocyte maturation in women at high risk of ovarian hyperstimulation syndrome (OHSS)? SUMMARY ANSWER: A second dose of kisspeptin-54 at 10 h following the first improves oocyte yield in women at high risk of OHSS. WHAT IS KNOWN ALREADY: Kisspeptin acts at the hypothalamus to stimulate the release of an endogenous pool of GnRH from the hypothalamus...
September 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28832357/recurrent-glomerular-disease-after-kidney-transplantation
#16
Christopher D Blosser, Roy D Bloom
PURPOSE OF REVIEW: With improving short-term kidney transplant outcomes, recurrent glomerular disease is being increasingly recognized as an important cause of chronic allograft failure. Further understanding of the risks and pathogenesis of recurrent glomerular disease enable informed transplant decisions, along with the development of preventive and treatment strategies. RECENT FINDINGS: Multiple observational studies have highlighted differences in rates and outcomes for various recurrent glomerular diseases, although these rates have not markedly improved over the last decade...
November 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28827358/stalled-replication-forks-generate-a-distinct-mutational-signature-in-yeast
#17
Nicolai B Larsen, Sascha E Liberti, Ivan Vogel, Signe W Jørgensen, Ian D Hickson, Hocine W Mankouri
Proliferating cells acquire genome alterations during the act of DNA replication. This leads to mutation accumulation and somatic cell mosaicism in multicellular organisms, and is also implicated as an underlying cause of aging and tumorigenesis. The molecular mechanisms of DNA replication-associated genome rearrangements are poorly understood, largely due to methodological difficulties in analyzing specific replication forks in vivo. To provide an insight into this process, we analyzed the mutagenic consequences of replication fork stalling at a single, site-specific replication barrier (the Escherichia coli Tus/Ter complex) engineered into the yeast genome...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28792069/bloom-syndrome-helicase-in-meiosis-pro-crossover-functions-of-an-anti-crossover-protein
#18
REVIEW
Talia Hatkevich, Jeff Sekelsky
The functions of the Bloom syndrome helicase (BLM) and its orthologs are well characterized in mitotic DNA damage repair, but their roles within the context of meiotic recombination are less clear. In meiotic recombination, multiple repair pathways are used to repair meiotic DSBs, and current studies suggest that BLM may regulate the use of these pathways. Based on literature from Saccharomyces cerevisiae, Arabidopsis thaliana, Mus musculus, Drosophila melanogaster, and Caenorhabditis elegans, we present a unified model for a critical meiotic role of BLM and its orthologs...
September 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28718810/dna2-an-important-player-in-dna-damage-response-or-just-another-dna-maintenance-protein
#19
REVIEW
Elzbieta Pawłowska, Joanna Szczepanska, Janusz Blasiak
The human DNA2 (DNA replication helicase/nuclease 2) protein is expressed in both the nucleus and mitochondria, where it displays ATPase-dependent nuclease and helicase activities. DNA2 plays an important role in the removing of long flaps in DNA replication and long-patch base excision repair (LP-BER), interacting with the replication protein A (RPA) and the flap endonuclease 1 (FEN1). DNA2 can promote the restart of arrested replication fork along with Werner syndrome ATP-dependent helicase (WRN) and Bloom syndrome protein (BLM)...
July 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28674805/a-recessive-genetic-screen-for-components-of-the-rna-interference-pathway-performed-in-mouse-embryonic-stem-cells
#20
Melanie I Trombly, Xiaozhong Wang
Several key components of the RNA interference (RNAi) pathway were identified in genetic screens performed in non-mammalian model organisms. To identify components of the mammalian RNAi pathway, we developed a recessive genetic screen in mouse embryonic stem (ES) cells. Recessive genetic screens are feasible in ES cells that are Bloom-syndrome protein deficient (Blm-deficient). We constructed a reporter cell line in Blm-deficient ES cells to isolate RNAi mutants using a simple drug selection scheme. This chapter describes how we used retroviral gene-traps to mutagenize the reporter cell line and select for RNAi mutants...
2017: Methods in Molecular Biology
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