Search our Database of Scientific Publications and Authors

I’m looking for a

    1648 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema

    1 OF 33

    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 Apr 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 BLM 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 BLM 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 Jul 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 May 19. 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

    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 Apr 20:1-7. 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 Feb 21. Epub 2017 Feb 21.
    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

    A prosurvival DNA damage-induced cytoplasmic interferon response is mediated by end resection factors and is limited by Trex1.
    Genes Dev 2017 Feb 9;31(4):353-369. Epub 2017 Mar 9.
    Department of Oncology, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom.
    Radiotherapy and chemotherapy are effective treatment methods for many types of cancer, but resistance is common. Recent findings indicate that antiviral type I interferon (IFN) signaling is induced by these treatments. However, the underlying mechanisms still need to be elucidated. Read More

    Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
    Mol Syndromol 2017 Jan 5;8(1):4-23. Epub 2016 Nov 5.
    Department of Cellular and Molecular Medicine, University of Arizona Cancer Center, Tucson, Ariz., USA.
    Bloom's syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early onset of cancer and for the development of multiple cancers. Loss-of-function mutations of BLM, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic of the syndrome. Read More

    A helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation.
    J Biol Chem 2017 Apr 22;292(14):5909-5920. Epub 2017 Feb 22.
    From the College of Life Sciences, Northwest A&F University, Yangling, Shaanxi 712100, China,
    Helicases play a critical role in processes such as replication or recombination by unwinding double-stranded DNA; mutations of these genes can therefore have devastating biological consequences. In humans, mutations in genes of three members of the RecQ family helicases (blm, wrn, and recq4) give rise to three strikingly distinctive clinical phenotypes: Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome, respectively. However, the molecular basis for these varying phenotypic outcomes is unclear, in part because a full mechanistic description of helicase activity is lacking. Read More

    Identifying the incidence of rash, Stevens-Johnson syndrome and toxic epidermal necrolysis in patients taking lamotrigine: a systematic review of 122 randomized controlled trials.
    An Bras Dermatol 2017 Jan-Feb;92(1):139-141
    University of California Irvine, Department of Dermatology - Irvine, California.
    Lamotrigine is an antiepileptic drug used for the treatment of epilepsy, bipolar disorder and numerous off-label uses. The development of rash significantly affects its use. The most concerning of these adverse reactions is Stevens-Johnson syndrome/toxic epidermal necrolysis. Read More

    Prognostic Accuracy of Sepsis-3 Criteria for In-Hospital Mortality Among Patients With Suspected Infection Presenting to the Emergency Department.
    JAMA 2017 01;317(3):301-308
    Emergency Department, Hôpital Ambroise-Paré, Boulogne, France, and Paris Diderot University, INSERM UMRS 1144, Paris, France.
    Importance: An international task force recently redefined the concept of sepsis. This task force recommended the use of the quick Sequential Organ Failure Assessment (qSOFA) score instead of systemic inflammatory response syndrome (SIRS) criteria to identify patients at high risk of mortality. However, these new criteria have not been prospectively validated in some settings, and their added value in the emergency department remains unknown. Read More

    Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.
    Redox Biol 2017 Apr 28;11:375-383. Epub 2016 Dec 28.
    Department of Experimental Pharmacology, Medical University of Bialystok, Szpitalna 37 Str., 15-295 Bialystok, Poland. Electronic address:
    Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis. Read More

    Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks.
    Cell Discov 2016 20;2:16047. Epub 2016 Dec 20.
    Lab of Genetics, National Institute on Aging, National Institute of Health , Baltimore, MD, USA.
    The recruitment of FANCM, a conserved DNA translocase and key component of several DNA repair protein complexes, to replication forks stalled by DNA interstrand crosslinks (ICLs) is a step upstream of the Fanconi anemia (FA) repair and replication traverse pathways of ICLs. However, detection of the FANCM recruitment has been technically challenging so that its mechanism remains exclusive. Here, we successfully observed recruitment of FANCM at stalled forks using a newly developed protocol. Read More

    Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction.
    Curr Biol 2017 Jan 15;27(1):96-102. Epub 2016 Dec 15.
    Curriculum in Genetics and Molecular Biology, 120 Mason Farm Road, University of North Carolina, Chapel Hill, NC 27599-7264, USA; Department of Biology, University of North Carolina, 120 South Road, Chapel Hill, NC 27599-3280, USA; Integrative Program in Biological and Genome Sciences, 250 Bell Tower Drive, University of North Carolina, Chapel Hill, NC 27599-7100, USA. Electronic address:
    In most sexually reproducing organisms, crossover formation between homologous chromosomes is necessary for proper chromosome disjunction during meiosis I. During meiotic recombination, a subset of programmed DNA double-strand breaks (DSBs) are repaired as crossovers, with the remainder becoming noncrossovers [1]. Whether a repair intermediate is designated to become a crossover is a highly regulated decision that integrates several crossover patterning processes, both along chromosome arms (interference and the centromere effect) and between chromosomes (crossover assurance) [2]. Read More

    Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.
    PLoS Genet 2016 Dec 15;12(12):e1006483. Epub 2016 Dec 15.
    Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
    Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Read More

    Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome.
    Pediatr Blood Cancer 2017 Jul 14;64(7). Epub 2016 Dec 14.
    College of Medicine, Department of Pediatrics, Umm AlQura University, Makkah, Saudi Arabia.
    This report presents a case of Bloom syndrome (BS) in a consanguineous Saudi family. The patient, an 11-year-old male with mature B-cell lymphoma, had minimal therapeutic response and significant dose-limiting toxicity with standard chemotherapy treatment. He later responded successfully to a rituximab-based chemotherapy protocol. Read More

    [Bloom syndrome. Clinical manifestations and cromosomal study in a Mexican child].
    Gac Med Mex 2016 Nov - Dec;152(6):836-837
    Departamento de Dermatología, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, N.L., México.
    Bloom syndrome is an extremely rare inherited disorder. We present a case of Bloom syndrome with a chromosomal study in a Mexican five-year-old patient who presented growth retardation, narrow facies with poikiloderma, café-au-lait, macules and photosensitivity. Read More

    Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
    Hum Mutat 2017 Feb 9;38(2):193-203. Epub 2016 Dec 9.
    Department of Genome Sciences, University of Washington, Seattle, Washington.
    Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. In order to better understand RECQ pathogenic and population variation, we systematically analyzed genetic variation in all five human RECQ helicase genes. A total of 3,741 unique base pair-level variants were identified, across 17,605 potential mutation sites. Read More

    The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase δ Elongation.
    Mol Cell Biol 2017 Feb 19;37(3). Epub 2017 Jan 19.
    Department of Molecular Microbiology and Immunology, Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
    The Werner syndrome protein (WRN) suppresses the loss of telomeres replicated by lagging-strand synthesis by a yet to be defined mechanism. Here, we show that whereas either WRN or the Bloom syndrome helicase (BLM) stimulates DNA polymerase δ progression across telomeric G-rich repeats, only WRN promotes sequential strand displacement synthesis and FEN1 cleavage, a critical step in Okazaki fragment maturation, at these sequences. Helicase activity, as well as the conserved winged-helix (WH) motif and the helicase and RNase D C-terminal (HRDC) domain play important but distinct roles in this process. Read More

    RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
    Pediatr Neurol 2017 Jan 13;66:59-62. Epub 2016 Sep 13.
    Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:
    Background: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection. Read More

    Neurodegeneration in accelerated aging.
    Dan Med J 2016 Nov;63(11)
    The growing proportion of elderly people represents an increasing economic burden, not least because of age-associated diseases that pose a significant cost to the health service. Finding possible interventions to age-associated disorders therefore have wide ranging implications. A number of genetically defined accelerated aging diseases have been characterized that can aid in our understanding of aging. Read More

    Congenital and perinatal complications of chikungunya fever: a Latin American experience.
    Int J Infect Dis 2016 Oct 13;51:85-88. Epub 2016 Sep 13.
    Centro Médico UCE, Santo Domingo, Dominican Republic.
    Background: During the years 2014 and 2015, the Region of the Americas underwent a devastating epidemic of chikungunya virus (CHIKV) of the Asian genotype, resulting in millions of affected individuals. However, epidemiological and clinical information on this experience is scarce. Prior knowledge of congenital and neonatal illness caused by CHIKV is limited and almost exclusively based on data obtained from a single outbreak of the East/Central/South African (ECSA) genotype. Read More

    Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.
    J Am Acad Dermatol 2016 Nov;75(5):855-870
    Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address:
    Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. Read More

    Human Resources for Treating HIV/AIDS: Are the Preventive Effects of Antiretroviral Treatment a Game Changer?
    PLoS One 2016 7;11(10):e0163960. Epub 2016 Oct 7., Inc., Seattle, Washington, United States of America.
    Shortages of human resources for treating HIV/AIDS (HRHA) are a fundamental barrier to reaching universal antiretroviral treatment (ART) coverage in developing countries. Previous studies suggest that recruiting HRHA to attain universal ART coverage poses an insurmountable challenge as ART significantly increases survival among HIV-infected individuals. While new evidence about ART's prevention benefits suggests fewer infections may mitigate the challenge, new policies such as treatment-as-prevention (TasP) will exacerbate it. Read More

    Clinically significant cardiopulmonary events and the effect of definition standardization on apnea of prematurity management.
    J Perinatol 2017 Jan 29;37(1):88-90. Epub 2016 Sep 29.
    Department of Neonatology, Wichita Medical Research and Education Foundation, Wichita, KS, USA.
    Objective: To define the impact of care standardization on caffeine and cardiorespiratory monitoring at neonatal intensive care unit (NICU) discharge.

    Study Design: Electronic records were abstracted for infants aged 24-36 weeks gestation with birth weights appropriate for gestational age. Infants who died, transferred prior to discharge, had major pulmonary anomalies, required a home monitor for mechanical ventilation or had a family history of sudden infant death syndrome were excluded. Read More

    Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
    J Obstet Gynaecol Can 2016 Aug;38(8):742-762.e3
    Vancouver BC.
    Objective: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document.

    Intended Users: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Read More

    Cytidine Deaminase Deficiency Reveals New Therapeutic Opportunities against Cancer.
    Clin Cancer Res 2017 Apr 6;23(8):2116-2126. Epub 2016 Sep 6.
    Institut Curie, PSL Research University, UMR 3348, 91405 Orsay, France.
    Purpose: One of the main challenges in cancer therapy is the identification of molecular mechanisms mediating resistance or sensitivity to treatment. Cytidine deaminase (CDA) was reported to be downregulated in cells derived from patients with Bloom syndrome, a genetic disease associated with a strong predisposition to a wide range of cancers. The purpose of this study was to determine whether CDA deficiency could be associated with tumors from the general population and could constitute a predictive marker of susceptibility to antitumor drugs. Read More

    Mutator Phenotype and DNA Double-Strand Break Repair in BLM Helicase-Deficient Human Cells.
    Mol Cell Biol 2016 Dec 14;36(23):2877-2889. Epub 2016 Nov 14.
    Division of Genetics and Mutagenesis, National Institute of Health Sciences, Setagaya-ku, Tokyo, Japan
    Bloom syndrome (BS), an autosomal recessive disorder of the BLM gene, predisposes sufferers to various cancers. To investigate the mutator phenotype and genetic consequences of DNA double-strand breaks (DSBs) in BS cells, we developed BLM helicase-deficient human cells by disrupting the BLM gene. Cells with a loss of heterozygosity (LOH) due to homologous recombination (HR) or nonhomologous end joining (NHEJ) can be restored with or without site-directed DSB induction. Read More

    Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome.
    Case Rep Surg 2016 15;2016:3176842. Epub 2016 Aug 15.
    Division of Colorectal Surgery, University of Campinas, Campinas, SP, Brazil.
    Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age. Read More

    Combined Quantification of the Global Proteome, Phosphoproteome, and Proteolytic Cleavage to Characterize Altered Platelet Functions in the Human Scott Syndrome.
    Mol Cell Proteomics 2016 Oct 17;15(10):3154-3169. Epub 2016 Aug 17.
    From the ‡Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany;
    The Scott syndrome is a very rare and likely underdiagnosed bleeding disorder associated with mutations in the gene encoding anoctamin-6. Platelets from Scott patients are impaired in various Ca(2+)-dependent responses, including phosphatidylserine exposure, integrin closure, intracellular protein cleavage, and cytoskeleton-dependent morphological changes. Given the central role of anoctamin-6 in the platelet procoagulant response, we used quantitative proteomics to understand the underlying molecular mechanisms and the complex phenotypic changes in Scott platelets compared with control platelets. Read More

    Oral Cancer-related Inherited Cancer Syndromes: A Comprehensive Review.
    J Contemp Dent Pract 2016 Jun 1;17(6):504-10. Epub 2016 Jun 1.
    Department of Diagnostic Sciences, Division of Oral Pathology College of Dentistry, Jazan University, Jazan, Kingdom of Saudi Arabia.
    Oral squamous cell carcinoma is the most common malignancy of the oral cavity, which is usually preceded by a myriad of oral potentially malignant disorders (OPMDs). In the classification of OPMDs, inherited cancer syndromes (ICSs) were proposed as one of the categories. Inherited cancer syndromes are genetic disorders in which inherited genetic mutation in one or more genes predispose the affected individuals to the development of cancer and may also cause its early onset. Read More

    FANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway.
    Hum Mol Genet 2016 Aug 17;25(15):3255-3268. Epub 2016 Jul 17.
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto M5G 0A4, Canada
    Fanconi anemia and Bloom syndrome are genomic instability syndromes caused by mutations in proteins that participate in overlapping DNA repair and replication pathways. Here, we show that the monoubiquitinated form of the Fanconi Anemia protein FANCD2 acts in opposition to the BLM DNA helicase to restrain telomere replication and recombination in human cells that utilize the Alternative Lengthening of Telomeres (ALT) pathway. ALT relies on exchanges of telomeric DNA to maintain telomeres, a process that we show FANCD2 suppresses. Read More

    A balanced pyrimidine pool is required for optimal Chk1 activation to prevent ultrafine anaphase bridge formation.
    J Cell Sci 2016 Aug 6;129(16):3167-77. Epub 2016 Jul 6.
    Institut Curie, PSL Research University, UMR 3348, Unité Stress Génotoxiques et Cancer, Centre de Recherche, Orsay 91405, France CNRS UMR 3348, Centre Universitaire, Bât. 110, Orsay 91405, France Université Paris Sud, Université Paris Saclay, UMR3348, Centre Universitaire d'Orsay, Orsay 91405, France
    Cytidine deaminase (CDA) deficiency induces an excess of cellular dCTP, which reduces basal PARP-1 activity, thereby compromising complete DNA replication, leading to ultrafine anaphase bridge (UFB) formation. CDA dysfunction has pathological implications, notably in cancer and in Bloom syndrome. It remains unknown how reduced levels of PARP-1 activity and pyrimidine pool imbalance lead to the accumulation of unreplicated DNA during mitosis. Read More

    Temporal trends in nitrate utilization for acute heart failure in elderly emergency patients: A single-centre observational study.
    Arch Cardiovasc Dis 2016 Aug-Sep;109(8-9):449-56. Epub 2016 Jun 21.
    Emergency Department, Hôpital Pitié-Salpêtrière, AP-HP, 75013 Paris, France; Paris Sorbonne Université, UPMC Université Paris 6, UMRS Inserm 1166, IHU ICAN, 75013 Paris, France. Electronic address:
    Background: We previously conducted a pilot study that reported the safety of isosorbide dinitrate boluses for elderly emergency patients with acute heart failure syndrome.

    Aims: To assess the temporal trend in the rate of elderly patients treated with isosorbide dinitrate, and to evaluate subsequent outcome differences.

    Methods: This was a single-centre study. Read More

    A Comparative Study of G-Quadruplex Unfolding and DNA Reeling Activities of Human RECQ5 Helicase.
    Biophys J 2016 Jun;110(12):2585-96
    Department of Physics, Kent State University, Kent, Ohio. Electronic address:
    RECQ5 is one of five members of the RecQ family of helicases in humans, which include RECQ1, Bloom (BLM), Werner (WRN), RECQ4, and RECQ5. Both WRN and BLM have been shown to resolve G-quadruplex (GQ) structures. Deficiencies in unfolding GQ are known to result in DNA breaks and genomic instability, which are prominent in Werner and Bloom syndromes. Read More

    DNA End Resection: Facts and Mechanisms.
    Genomics Proteomics Bioinformatics 2016 Jun 27;14(3):126-30. Epub 2016 May 27.
    Life Sciences Institute and Innovation Center for Cell Signaling Network, Zhejiang University, Hangzhou 310058, China. Electronic address:
    DNA double-strand breaks (DSBs), which arise following exposure to a number of endogenous and exogenous agents, can be repaired by either the homologous recombination (HR) or non-homologous end-joining (NHEJ) pathways in eukaryotic cells. A vital step in HR repair is DNA end resection, which generates a long 3' single-stranded DNA (ssDNA) tail that can invade the homologous DNA strand. The generation of 3' ssDNA is not only essential for HR repair, but also promotes activation of the ataxia telangiectasia and Rad3-related protein (ATR). Read More

    Endocr Pract 2016 Jul 24;22 Suppl 3:1-203. Epub 2016 May 24.
    Objective: Development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and the American College of Endocrinology (ACE) Board of Trustees and adheres to published AACE protocols for the standardized production of clinical practice guidelines (CPGs).

    Methods: Recommendations are based on diligent review of clinical evidence with transparent incorporation of subjective factors.

    Results: There are 9 broad clinical questions with 123 recommendation numbers that include 160 specific statements (85 [53. Read More

    Lorcaserin in Obese and Overweight Patients Taking Prohibited Serotonergic Agents: A Retrospective Analysis.
    Clin Ther 2016 Jun 17;38(6):1498-509. Epub 2016 May 17.
    Formerly of Eisai Inc, Woodcliff Lake, New Jersey.
    Purpose: Lorcaserin is a selective serotonin 2C receptor (5-HT2C) agonist approved in the United States for use in chronic weight management as an adjunct to a reduced-calorie diet and increased physical activity. Its pharmacologic activity is limited to 5-HT subtype 2 receptors. The potency of lorcaserin for the 5-HT2C receptor is 14-fold greater than its potency for the 5-HT2A receptor and 61-fold greater than its potency for the 5-HT2B receptor. Read More

    Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells.
    Nucleic Acids Res 2016 Aug 16;44(14):6787-93. Epub 2016 May 16.
    European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, 9713 AV Groningen, The Netherlands Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC V5Z 1L3, Canada Division of Hematology, Department of Medicine, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
    Sister chromatid exchanges (SCEs) are considered sensitive indicators of genome instability. Detection of SCEs typically requires cells to incorporate bromodeoxyuridine (BrdU) during two rounds of DNA synthesis. Previous studies have suggested that SCEs are induced by DNA replication over BrdU-substituted DNA and that BrdU incorporation alone could be responsible for the high number of SCE events observed in cells from patients with Bloom syndrome (BS), a rare genetic disorder characterized by marked genome instability and high SCE frequency. Read More

    Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer.
    J Gastroenterol 2017 Mar 11;52(3):327-340. Epub 2016 May 11.
    Department of Sciences and Technologies, University of Sannio, Via Port'Arsa, 11, 82100, Benevento, Italy.
    Background: Bloom syndrome is a rare and recessive disorder characterized by loss-of-function mutations of the BLM gene, which encodes a RecQ 3'-5' DNA helicase. Despite its putative tumor suppressor function, the contribution of BLM to human sporadic colorectal cancer (CRC) remains poorly understood.

    Methods: The transcriptional regulation mechanism underlying BLM and related DNA damage response regulation in independent CRC subsets and a panel of derived cell lines was investigated by bioinformatics analysis, the transcriptomic profile, a CpG island promoter methylation assay, Western blot, and an immunolocalization assay. Read More

    A Clinic Model: Post-Intensive Care Syndrome and Post-Intensive Care Syndrome-Family.
    AACN Adv Crit Care 2016 Apr-Jun;27(2):204-11
    Elizabeth L. Huggins and Sarah L. Bloom are Adult-Gerontology Acute Care Nurse Practitioners, Department of Medicine, Vanderbilt University Medical Center (VUMC), 1161 21st Ave S, Suite AA-1214, Nashville, TN 37232-2102 Joanna L. Stollings is Clinical Pharmacy Specialist in the Medical Intensive Care Unit (MICU) and Pharmacist in the ICU Recovery Center, Dept of Pharmaceutical Services, VUMC. Mildred Camp was a patient in the MICU at VUMC. Carla M. Sevin is Assistant Professor, Director of the ICU Recovery Center, Department of Medicine, Division of Allergy, Pulmonary and Critical Care, VUMC. James C. Jackson is Neuropsychologist and Assistant Director of the ICU Recovery Center, Center for Health Services Research, Departments of Medicine and Psychiatry, VUMC, and Geriatric Research, Education and Clinical Center (GRECC) Service, Department of Veterans Affairs, Tennessee Valley Healthcare System, Nashville, Tennessee.
    The number of patients surviving critical illness in the United States has increased with advancements in medicine. Post-intensive care syndrome and post-intensive care syndrome-family are terms developed by the Society of Critical Care Medicine in order to address the cognitive, psychological, and physical sequelae emerging in patients and their families after discharge from the intensive care unit. In the United Kingdom and Europe, intensive care unit follow-up clinics have been used to address the complications of post-intensive care syndrome for some time. Read More

    1 OF 33