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Bloom Syndrome

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https://www.readbyqxmd.com/read/29668499/tumor-syndromes-predisposing-to-osteosarcoma
#1
Meera Hameed, Diana Mandelker
Osteosarcoma (OS) is the most common primary bone tumor affecting predominantly adolescents and young adults. It accounts for about 5% of all childhood cancers. Although the majority of OSs are sporadic, a small percentage occur as a component of hereditary cancer syndromes. Early onset, bilateral, multifocal, and metachronous tumors suggest genetic predisposition. The inheritance patterns can be autosomal dominant or recessive. These syndromes predispose to a wide variety of mesenchymal and epithelial cancers with propensity for certain mutations being prevalent in specific cancer subtypes...
April 17, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29610394/bloom-syndrome-research-and-data-priorities-for-the-development-of-precision-medicine-as-identified-by-some-affected-families
#2
Mary Beth Campbell, Wesley C Campbell, James Rogers, Natalie Rogers, Zachary Rogers, Anne Marie van den Hurk, Annie Webb, Talon Webb, Paul Zaslaw
Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age. Cancer is the leading cause of death for persons with BS, and its early onset results in a reported median lifespan of <30 years. With fewer than 300 documented cases since BS was first described in 1954, its rarity has challenged progress in advancing both the care of and the cure for persons with BS...
April 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29571008/grape-proanthocyanidin-induced-intestinal-bloom-of-akkermansia-muciniphila-is-dependent-on-its-baseline-abundance-and-precedes-activation-of-host-genes-related-to-metabolic-health
#3
Li Zhang, Rachel N Carmody, Hetal M Kalariya, Rocio M Duran, Kristin Moskal, Alexander Poulev, Peter Kuhn, Kevin M Tveter, Peter J Turnbaugh, Ilya Raskin, Diana E Roopchand
We previously showed that C57BL/6J mice fed high-fat diet (HFD) supplemented with 1% grape polyphenols (GP) for 12 weeks developed a bloom of Akkermansia muciniphila with attenuated metabolic syndrome symptoms. Here we investigated early timing of GP-induced effects and the responsible class of grape polyphenols. Mice were fed HFD, low-fat diet (LFD) or formulations supplemented with GP (HFD-GP, LFD-GP) for 14 days. Mice fed HFD-GP, but not LFD-GP, showed improved oral glucose tolerance compared to controls...
February 15, 2018: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29564828/genes-proteins-and-biological-pathways-preventing-chromothripsis
#4
Martin Poot
The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints, associated copy number variations, order and orientation of segments, and flanking sequences at joining points. Results from patients with the autosomal dominant cancer susceptibility disorder Li-Fraumeni syndrome implicated somatic TP53 mutations in chromothripsis...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29563231/genetic-mapping-of-species-differences-via-in-vitro-crosses-in-mouse-embryonic-stem-cells
#5
Stefano Lazzarano, Marek Kučka, João P L Castro, Ronald Naumann, Paloma Medina, Michael N C Fletcher, Rebecka Wombacher, Joost Gribnau, Tino Hochepied, Marc Van Montagu, Claude Libert, Yingguang Frank Chan
Discovering the genetic changes underlying species differences is a central goal in evolutionary genetics. However, hybrid crosses between species in mammals often suffer from hybrid sterility, greatly complicating genetic mapping of trait variation across species. Here, we describe a simple, robust, and transgene-free technique to generate "in vitro crosses" in hybrid mouse embryonic stem (ES) cells by inducing random mitotic cross-overs with the drug ML216, which inhibits the DNA helicase Bloom syndrome (BLM)...
March 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29523790/mrn-complex-dependent-recruitment-of-ubiquitylated-blm-helicase-to-dsbs-negatively-regulates-dna-repair-pathways
#6
Vivek Tripathi, Himanshi Agarwal, Swati Priya, Harish Batra, Priyanka Modi, Monica Pandey, Dhurjhoti Saha, Sathees C Raghavan, Sagar Sengupta
Mutations in BLM in Bloom Syndrome patients predispose them to multiple types of cancers. Here we report that BLM is recruited in a biphasic manner to annotated DSBs. BLM recruitment is dependent on the presence of NBS1, MRE11 and ATM. While ATM activity is essential for BLM recruitment in early phase, it is dispensable in late phase when MRE11 exonuclease activity and RNF8-mediated ubiquitylation of BLM are the key determinants. Interaction between polyubiquitylated BLM and NBS1 is essential for the helicase to be retained at the DSBs...
March 9, 2018: Nature Communications
https://www.readbyqxmd.com/read/29457491/critical-care-pharmacists-and-medication-management-in-an-icu-recovery-center
#7
Joanna L Stollings, Sarah L Bloom, Li Wang, E Wesley Ely, James C Jackson, Carla M Sevin
BACKGROUND: Many patients experience complications following critical illness; these are now widely referred to as post-intensive care syndrome (PICS). An interprofessional intensive care unit (ICU) recovery center (ICU-RC), also known as a PICS clinic, is one potential approach to promoting patient and family recovery following critical illness. OBJECTIVES: To describe the role of an ICU-RC critical care pharmacist in identifying and treating medication-related problems among ICU survivors...
February 1, 2018: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/29451980/tri-layer-polymeric-shells-containing-magnetite-nanocarrier-mediated-lcs-1-delivery-for-synthetic-lethal-therapy-of-blm-defective-colorectal-cancer-cells
#8
Anuradha Gupta, Anas Ahmad, Hardeep Singh, Sharanjeet Kaur, Neethu K M, Md Meraj Ansari, Govindasamy Jayamurugan, Rehan Khan
Synthetic lethality is a molecular targeted therapy for selective killing of cancer cells. We exploited a lethal interaction between Superoxide dismutase1 inhibition and Bloom syndrome gene product (BLM) defect for the treatment of colorectal cancer (CRC) cells (HCT 116) with lung cancer screen-1 (LCS-1) loaded customized nanocarrier. LCS-1 has poor aqueous solubility. To overcome its limitations, customized nanocarrier (NC), composed of magnetite core coated with three polymeric shells namely, aminocellulose, branched poly(amidoamine) and paraben-PEG, was developed for encapsulating LCS-1...
February 16, 2018: Biomacromolecules
https://www.readbyqxmd.com/read/29386092/mir-522-3p-promotes-tumorigenesis-in-human-colorectal-cancer-via-targeting-bloom-syndrome-protein
#9
Feng Shuai, Bo Wang, Shuxiao Dong
miR-522-3p is known to degrade bloom syndrome protein (BLM) and enhance expression of other proto-oncogenes leading totumorigenesis. This study aimed to investigate the molecular mechanisms of miR-522-3p in human colorectal cancer (CRC) cells. Expressions of miR-522-3p in CRC and adjacent tissues, as well as in normal human colon epithelial cell line (FHC) and five CRC cell lines were detected. Human CRC cell lines, HCT-116 and HT29, were transfected with miR-522-3p mimic, inhibitor or scrambled controls. Then, cell viability, apoptosis, cell-cycle progression, and the expressions of c-myc, cyclin E, CDK2, and BLM were respectively assessed...
January 31, 2018: Oncology Research
https://www.readbyqxmd.com/read/29348659/blm-helicase-suppresses-recombination-at-g-quadruplex-motifs-in-transcribed-genes
#10
Niek van Wietmarschen, Sarra Merzouk, Nancy Halsema, Diana C J Spierings, Victor Guryev, Peter M Lansdorp
Bloom syndrome is a cancer predisposition disorder caused by mutations in the BLM helicase gene. Cells from persons with Bloom syndrome exhibit striking genomic instability characterized by excessive sister chromatid exchange events (SCEs). We applied single-cell DNA template strand sequencing (Strand-seq) to map the genomic locations of SCEs. Our results show that in the absence of BLM, SCEs in human and murine cells do not occur randomly throughout the genome but are strikingly enriched at coding regions, specifically at sites of guanine quadruplex (G4) motifs in transcribed genes...
January 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29194355/characterization-of-the-ebv-induced-persistent-dna-damage-response
#11
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
#12
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...
January 2018: 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
#13
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
#14
REVIEW
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...
January 28, 2018: Cancer Letters
https://www.readbyqxmd.com/read/29056561/bloom-syndrome-does-not-always-present-with-sun-sensitive-facial-erythema
#15
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
#16
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 sgs1 Δ 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...
December 4, 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
#17
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
#18
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
#19
COMPARATIVE STUDY
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...
February 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28978405/a-new-brct-binding-mode-in-topbp1-blm-helicase-interaction
#20
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
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