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    1700 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema

    1 OF 34

    Tumor Syndromes Predisposing to Osteosarcoma.
    Adv Anat Pathol 2018 Apr 17. Epub 2018 Apr 17.
    Department of Pathology, Memorial Sloan Kettering Cancer Center, NewYork, NY.
    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. Read More

    Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families.
    Cold Spring Harb Mol Case Stud 2018 Apr 2;4(2). Epub 2018 Apr 2.
    2017 Pediatric Cancer Nanocourse, Children's Cancer Therapy Development Institute, Beaverton, Oregon 97005, USA.
    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. Read More

    Grape proanthocyanidin-induced intestinal bloom of Akkermansia muciniphila is dependent on its baseline abundance and precedes activation of host genes related to metabolic health.
    J Nutr Biochem 2018 Feb 15;56:142-151. Epub 2018 Feb 15.
    Rutgers, The State University of New Jersey, Department of Food Science, Institute for Food Nutrition and Health, Center for Digestive Health, 61 Dudley Road, New Brunswick, NJ 08901, USA. Electronic address:
    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. Read More

    Genes, Proteins, and Biological Pathways Preventing Chromothripsis.
    Methods Mol Biol 2018 ;1769:231-251
    Department of Human Genetics, University of Würzburg, Würzburg, Germany.
    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. Read More

    Genetic mapping of species differences via in vitro crosses in mouse embryonic stem cells.
    Proc Natl Acad Sci U S A 2018 Apr 21;115(14):3680-3685. Epub 2018 Mar 21.
    Friedrich Miescher Laboratory of the Max Planck Society, 72076 Tübingen, Germany;
    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). Read More

    MRN complex-dependent recruitment of ubiquitylated BLM helicase to DSBs negatively regulates DNA repair pathways.
    Nat Commun 2018 Mar 9;9(1):1016. Epub 2018 Mar 9.
    National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, 110067, India.
    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. Read More

    Critical Care Pharmacists and Medication Management in an ICU Recovery Center.
    Ann Pharmacother 2018 Feb 1:1060028018759343. Epub 2018 Feb 1.
    1 Vanderbilt University Medical Center, Nashville, TN, USA.
    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. Read More

    Nanocarrier Composed of Magnetite Core Coated with Three Polymeric Shells Mediates LCS-1 Delivery for Synthetic Lethal Therapy of BLM-Defective Colorectal Cancer Cells.
    Biomacromolecules 2018 Mar 28;19(3):803-815. Epub 2018 Feb 28.
    Institute of Nano Science and Technology , Mohali , Punjab 160062 , India.
    Synthetic lethality is a molecular-targeted therapy for selective killing of cancer cells. We exploited a lethal interaction between superoxide dismutase 1 inhibition and Bloom syndrome gene product (BLM) defect for the treatment of colorectal cancer (CRC) cells (HCT 116) with a customized lung cancer screen-1-loaded nanocarrier (LCS-1-NC). The drug LCS-1 has poor aqueous solubility. Read More

    Interaction of replication protein A with two acidic peptides from human Bloom syndrome protein.
    FEBS Lett 2018 Feb 15;592(4):547-558. Epub 2018 Feb 15.
    Department of Chemistry, Gwangju Institute of Science and Technology, Gwangju, Korea.
    Bloom syndrome protein (BLM) is one of five human RecQ helicases which maintain genomic stability. Interaction of BLM with replication protein A (RPA) stimulates the DNA unwinding ability of BLM. The interaction is expected to be crucial in the DNA damage response. Read More

    miR-522-3p promotes tumorigenesis in human colorectal cancer via targeting bloom syndrome protein.
    Oncol Res 2018 Jan 31. Epub 2018 Jan 31.
    Department of Gastrointestinal Surgery, Linyi People's Hospital, Linyi 276000, Shandong, China.
    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. Read More

    BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes.
    Nat Commun 2018 01 18;9(1):271. Epub 2018 Jan 18.
    European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands.
    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. Read More

    Elevation of soybean seed oil content through selection for seed coat shininess.
    Nat Plants 2018 Jan 1;4(1):30-35. Epub 2018 Jan 1.
    Department of Agronomy, Purdue University, West Lafayette, IN, USA.
    Many leguminous species have adapted their seed coat with a layer of powdery bloom that contains hazardous allergens and makes the seeds less visible, offering duel protection against potential predators . Nevertheless, a shiny seed surface without bloom is desirable for human consumption and health, and is targeted for selection under domestication. Here we show that seed coat bloom in wild soybeans is mainly controlled by Bloom1 (B1), which encodes a transmembrane transporter-like protein for biosynthesis of the bloom in pod endocarp. Read More

    Arctic berry extracts target the gut-liver axis to alleviate metabolic endotoxaemia, insulin resistance and hepatic steatosis in diet-induced obese mice.
    Diabetologia 2018 Apr 21;61(4):919-931. Epub 2017 Dec 21.
    Department of Medicine, Faculty of Medicine, Cardiology Axis of the Québec Heart and Lung Institute, Laval University, Bureau Y4340, Québec City, QC, G1V 4G5, Canada.
    Aims/hypothesis: There is growing evidence that fruit polyphenols exert beneficial effects on the metabolic syndrome, but the underlying mechanisms remain poorly understood. In the present study, we aimed to analyse the effects of polyphenolic extracts from five types of Arctic berries in a model of diet-induced obesity.

    Methods: Male C57BL/6 J mice were fed a high-fat/high-sucrose (HFHS) diet and orally treated with extracts of bog blueberry (BBE), cloudberry (CLE), crowberry (CRE), alpine bearberry (ABE), lingonberry (LGE) or vehicle (HFHS) for 8 weeks. Read More

    Characterization of the EBV-Induced Persistent DNA Damage Response.
    Viruses 2017 12 1;9(12). Epub 2017 Dec 1.
    Department of Molecular Genetics and Microbiology, Center for Virology, Duke University School of Medicine, Durham, NC 27710, USA.
    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. Read More

    Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
    Cancer Lett 2018 01 7;413:1-10. Epub 2017 Nov 7.
    Radiation Emergency Assistance Center and Training Site, Oak Ridge Associated Universities, Oak Ridge Institute for Science and Education, Oak Ridge, TN 37830, USA. Electronic address:
    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. Read More

    Bloom syndrome does not always present with sun-sensitive facial erythema.
    Eur J Med Genet 2018 Feb 19;61(2):94-97. Epub 2017 Oct 19.
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:
    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. Read More

    Contributions of recombination and repair proteins to telomere maintenance in telomerase-positive and negative Ustilago maydis.
    Mol Microbiol 2018 Jan 9;107(1):81-93. Epub 2017 Nov 9.
    Department of Microbiology & Immunology, W. R. Hearst Microbiology Research Center Weill Medical College of Cornell University, New York, NY, USA.
    Homologous recombination and repair factors are known to promote both telomere replication and recombination-based telomere extension. Herein, we address the diverse contributions of several recombination/repair proteins to telomere maintenance in Ustilago maydis, a fungus that bears strong resemblance to mammals with respect to telomere regulation and recombination mechanisms. In telomerase-positive U. Read More

    RECQ-like helicases Sgs1 and BLM regulate R-loop-associated genome instability.
    J Cell Biol 2017 12 17;216(12):3991-4005. Epub 2017 Oct 17.
    Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, Canada
    Sgs1, the orthologue of human Bloom's syndrome helicase BLM, is a yeast DNA helicase functioning in DNA replication and repair. We show that loss increases R-loop accumulation and sensitizes cells to transcription-replication collisions. Yeast lacking accumulate R-loops and γ-H2A at sites of Sgs1 binding, replication pausing regions, and long genes. Read More

    H syndrome: 5 new cases from the United States with novel features and responses to therapy.
    Pediatr Rheumatol Online J 2017 Oct 17;15(1):76. Epub 2017 Oct 17.
    Department of Pediatrics, University of Utah, Salt Lake City, UT, 84113, USA.
    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. Read More

    Enhancement of BLM-DNA2-Mediated Long-Range DNA End Resection by CtIP.
    Cell Rep 2017 Oct;21(2):324-332
    Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:
    DNA double-strand break repair by homologous recombination entails the resection of DNA ends to reveal ssDNA tails, which are used to invade a homologous DNA template. CtIP and its yeast ortholog Sae2 regulate the nuclease activity of MRE11 in the initial stage of resection. Deletion of CtIP in the mouse or SAE2 in yeast engenders a more severe phenotype than MRE11 nuclease inactivation, indicative of a broader role of CtIP/Sae2. Read More

    Successful treatment of community-acquired methicillin-resistant Staphylococcus aureus purulent myopericarditis.
    BMJ Case Rep 2017 Oct 10;2017. Epub 2017 Oct 10.
    Department of Cardiology, Naval Medical Center Portsmouth, Portsmouth, Virginia, USA.
    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 Despite ongoing treatment with intravenous vancomycin, he developed a recurrent fibrinous pericardial effusion and constrictive pericarditis requiring pericardiectomy. Read More

    Characterization of the nuclear import pathway for BLM protein.
    Arch Biochem Biophys 2017 11 7;634:57-68. Epub 2017 Oct 7.
    College of Animal Science, Guizhou University, Guiyang 550025, China.
    Numerous studies have shown that nuclear localization of BLM protein, a member of the RecQ helicases, mediated by nuclear localization signal (NLS) is critical for DNA recombination, replication and transcription, but the mechanism by which BLM protein is imported into the nucleus remains unknown. In this study, the nuclear import pathway for BLM was investigated. We found that nuclear import of BLM was inhibited by two dominant-negative mutants of importin β1 and NTF2/E42K, which lacks the ability to bind Ran and RanGDP, respectively, but was not inhibited by the Ran/Q69L, which is deficient in GTP hydrolysis. Read More

    A New BRCT Binding Mode in TopBP1-BLM Helicase Interaction.
    Structure 2017 Oct 3;25(10):1471-1472. Epub 2017 Oct 3.
    Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:
    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). Read More

    Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
    Am J Med Genet A 2017 Nov 28;173(11):3075-3081. Epub 2017 Sep 28.
    Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.
    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. Read More

    A role for Tau protein in maintaining ribosomal DNA stability and cytidine deaminase-deficient cell survival.
    Nat Commun 2017 09 25;8(1):693. Epub 2017 Sep 25.
    Institut Curie, PSL Research University, UMR 3348, Orsay, 91405, France.
    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. Read More

    RecQ helicase BLM regulates prostate cancer cell proliferation and apoptosis.
    Oncol Lett 2017 Oct 2;14(4):4206-4212. Epub 2017 Aug 2.
    Institute of Uro-Nephrology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing 100020, P.R. China.
    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. Read More

    Structural Insight into BLM Recognition by TopBP1.
    Structure 2017 Oct 14;25(10):1582-1588.e3. Epub 2017 Sep 14.
    Department of Biochemistry, University of Alberta, Edmonton, AB T6G 2H7, Canada. Electronic address:
    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. Read More

    BLM helicase regulates DNA repair by counteracting RAD51 loading at DNA double-strand break sites.
    J Cell Biol 2017 11 14;216(11):3521-3534. Epub 2017 Sep 14.
    Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ
    The gene product, BLM, is a RECQ helicase that is involved in DNA replication and repair of DNA double-strand breaks by the homologous recombination (HR) pathway. During HR, BLM has both pro- and anti-recombinogenic activities, either of which may contribute to maintenance of genomic integrity. We find that in cells expressing a mutant version of BRCA1, an essential HR factor, ablation of rescues genomic integrity and cell survival in the presence of DNA double-strand breaks. Read More

    BLM and SLX4 play opposing roles in recombination-dependent replication at human telomeres.
    EMBO J 2017 10 6;36(19):2907-2919. Epub 2017 Sep 6.
    Telomere Length Regulation Unit, Children's Medical Research Institute, University of Sydney, Westmead, NSW, Australia
    Alternative lengthening of telomeres (ALT) is a telomere lengthening pathway that predominates in aggressive tumors of mesenchymal origin; however, the underlying mechanism of telomere synthesis is not fully understood. Here, we show that the BLM-TOP3A-RMI (BTR) dissolvase complex is required for ALT-mediated telomere synthesis. We propose that recombination intermediates formed during strand invasion are processed by the BTR complex, initiating rapid and extensive POLD3-dependent telomere synthesis followed by dissolution, with no overall exchange of telomeric DNA. Read More

    A second dose of kisspeptin-54 improves oocyte maturation in women at high risk of ovarian hyperstimulation syndrome: a Phase 2 randomized controlled trial.
    Hum Reprod 2017 Sep;32(9):1915-1924
    Department of Investigative Medicine, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK.
    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. We have previously reported that a single dose of kisspeptin-54 results in an LH-surge of ~12-14 h duration, which safely triggers oocyte maturation in women at high risk of OHSS. Read More

    Recurrent glomerular disease after kidney transplantation.
    Curr Opin Nephrol Hypertens 2017 11;26(6):501-508
    aDepartment of Medicine, Division of Nephrology, University of Washington, Washington bDepartment of Medicine, Renal Division, University of Pennsylvania cDepartment of Medicine, Penn Transplant Institute, Pennsylvania, USA.
    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. Read More

    Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein.
    Bioessays 2017 Sep 9;39(9). Epub 2017 Aug 9.
    Curriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
    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. Read More

    Xylella fastidiosa: an examination of a re-emerging plant pathogen.
    Mol Plant Pathol 2018 Apr 24;19(4):786-800. Epub 2017 Oct 24.
    Department of Plant Pathology and Microbiology, University of California, Riverside, CA 92521, USA.
    Xylella fastidiosa is a Gram-negative bacterial plant pathogen with an extremely wide host range. This species has recently been resolved into subspecies that correlate with host specificity. This review focuses on the status of X. Read More

    DNA2-An Important Player in DNA Damage Response or Just Another DNA Maintenance Protein?
    Int J Mol Sci 2017 Jul 18;18(7). Epub 2017 Jul 18.
    Department of Molecular Genetics, Faculty of Biology and Environmental Protection, University of Lodz, 90-236 Lodz, Poland.
    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). Read More

    A Recessive Genetic Screen for Components of the RNA Interference Pathway Performed in Mouse Embryonic Stem Cells.
    Methods Mol Biol 2017 ;1622:111-129
    Department of Biochemistry, Molecular Biology, and Cell Biology, Northwestern University, Hogan 2-100, 2205 Tech Drive, Evanston, IL, 60208, USA.
    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). Read More

    Site-Specific Self-Catalyzed DNA Depurination: A Biological Mechanism That Leads to Mutations and Creates Sequence Diversity.
    Annu Rev Biochem 2017 Jun;86:461-484
    Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544; email: ,
    Self-catalyzed DNA depurination is a sequence-specific physiological mechanism mediated by spontaneous extrusion of a stem-loop catalytic intermediate. Hydrolysis of the 5'G residue of the 5'GA/TGG loop and of the first 5'A residue of the 5'GAGA loop, together with particular first stem base pairs, specifies their hydrolysis without involving protein, cofactor, or cation. As such, this mechanism is the only known DNA catalytic activity exploited by nature. Read More

    Cancer predisposition syndromes associated with myeloid malignancy.
    Semin Hematol 2017 04 7;54(2):115-122. Epub 2017 Apr 7.
    Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN. Electronic address:
    The majority of myeloid malignancies are caused by sporadic somatic events rather than cancer predisposition. Nonetheless, the identification of hereditary cancer predisposition syndromes is critical when caring for patients with myeloid malignancies since detection may direct decisions related to cancer treatment and surveillance. A positive genetic test result also has important implications for other family members who can use this information to undergo their own testing to determine their cancer risk. Read More

    First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis.
    Mol Syndromol 2017 Mar 17;8(2):103-106. Epub 2017 Jan 17.
    St. Petersburg State Pediatric Medical University, Kazan, Russia.
    Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent c. Read More

    Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
    Clin Cancer Res 2017 Jun;23(11):e23-e31
    National Cancer Institute, Rockville, Maryland.
    DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Read More

    Role for RIF1-interacting partner DDX1 in BLM recruitment to DNA double-strand breaks.
    DNA Repair (Amst) 2017 07 13;55:47-63. Epub 2017 May 13.
    Department of Oncology, Cross Cancer Institute, University of Alberta, 11560 University Avenue, Edmonton Alberta T6G 1Z2, Canada. Electronic address:
    Human Rap1-interacting factor 1 (RIF1) is an important player in the repair of DNA double strand breaks (DSBs). RIF1 acts downstream of 53BP1, with well-documented roles in class switch recombination in B-cells and inhibition of end resection initiation in BRCA1-defective cells. Here, we report that DEAD Box 1 (DDX1), a RNA helicase also implicated in DSB repair, interacts with RIF1, with co-localization of DDX1 and RIF1 observed throughout interphase. Read More

    Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
    J Pediatr 2017 Aug 19;187:206-212.e1. Epub 2017 May 19.
    Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany. Electronic address:
    Objective: To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing.

    Study Design: Forty-seven patients referred for molecular testing for SRS were examined after exclusion of one of the SRS-associated alterations. After clinical classification, a targeted next generation sequencing approach comprising 25 genes associated with other diagnoses or postulated as SRS candidate genes was performed. Read More

    hSSB1 associates with and promotes stability of the BLM helicase.
    BMC Mol Biol 2017 May 15;18(1):13. Epub 2017 May 15.
    School of Biomedical Research, Institute of Health and Biomedical Innovation at the Translational Research Institute, Queensland University of Technology, 37 Kent Street, Woolloongabba, QLD, 4102, Australia.
    Background: Maintenance of genome stability is critical in human cells. Mutations in or loss of genome stability pathways can lead to a number of pathologies including cancer. hSSB1 is a critical DNA repair protein functioning in the repair and signalling of stalled DNA replication forks, double strand DNA breaks and oxidised DNA lesions. Read More

    Cytidine deaminase deficiency impairs sister chromatid disjunction by decreasing PARP-1 activity.
    Cell Cycle 2017 Jun 2;16(11):1128-1135. Epub 2017 May 2.
    a Institut Curie, PSL Research University, UMR 3348, Unité Stress Génotoxiques et Cancer, Centre de Recherche , Orsay , France.
    Bloom Syndrome (BS) is a rare genetic disease characterized by high levels of chromosomal instability and an increase in cancer risk. Cytidine deaminase (CDA) expression is downregulated in BS cells, leading to an excess of cellular dC and dCTP that reduces basal PARP-1 activity, compromising optimal Chk1 activation and reducing the efficiency of downstream checkpoints. This process leads to the accumulation of unreplicated DNA during mitosis and, ultimately, ultrafine anaphase bridge (UFB) formation. Read More

    The absence of crossovers on chromosome 4 in Drosophila melanogaster: Imperfection or interesting exception?
    Fly (Austin) 2017 10 20;11(4):253-259. Epub 2017 Apr 20.
    a Curriculum in Genetics and Molecular Biology , University of North Carolina , Chapel Hill , North Carolina , USA.
    Drosophila melanogaster chromosome 4 is an anomaly because of its small size, chromatin structure, and most notably its lack of crossing over during meiosis. Earlier ideas about the absence of crossovers on 4 hypothesize that these unique characteristics function to prevent crossovers. Here, we explore hypotheses about the absence of crossovers on 4, how these have been addressed, and new insights into the mechanism behind this suppression. Read More

    [Hereditary bone tumors].
    Pathologe 2017 May;38(3):179-185
    Institut für Pathologie, Knochentumor-Referenzzentrum, Universitätsspital Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz.
    Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). Read More

    Purification and enzymatic characterization of Gallus gallus BLM helicase.
    J Biochem 2017 Sep;162(3):183-191
    College of Life Sciences, Northwest A&F University, Yangling, Shaanxi 712100, China.
    Mutations in human BLM helicase give rise to the autosomal recessive Bloom syndrome, which shows high predisposition to types of malignant tumours. Though lots of biochemical and structural investigations have shed lights on the helicase core, structural investigations of the whole BLM protein are still limited due to its low stability and production. Here by comparing with the expression systems and functions of other BLM homologues, we developed the heterologous high-level expression and high-yield purification systems for Gallus gallus BLM (gBLM) in Escherichia coli. Read More

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