1,740 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema


Keeping ribosomal DNA intact: a repeating challenge.

Chromosome Res 2018 Dec 17. Epub 2018 Dec 17.

Section of Oncogenetics, Department of Clinical Genetics, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam UMC, de Boelelaan 1117, 1081 HV, Amsterdam, the Netherlands.

More than half of the human genome consists of repetitive sequences, with the ribosomal DNA (rDNA) representing two of the largest repeats. Repetitive rDNA sequences may form a threat to genomic integrity and cellular homeostasis due to the challenging aspects of their transcription, replication, and repair. Predisposition to cancer, premature aging, and neurological impairment in ataxia-telangiectasia and Bloom syndrome, for instance, coincide with increased cellular rDNA repeat instability. Read More

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http://dx.doi.org/10.1007/s10577-018-9594-zDOI Listing
December 2018

Prevalence of glucose intolerance and metabolic syndrome within one year following delivery of a pregnancy complicated by gestational diabetes.

Contracept Reprod Med 2018 23;3:27. Epub 2018 Nov 23.

Los Angeles BioMedical Research Institute at Harbor UCLA Medical Center, 1457 3rd Street, Manhattan Beach, Torrance, CA 90266 USA.

Background: Women with a history of gestational diabetes (GDM) are at risk for development of both overt Type 2 diabetes (T2DM) and cardiovascular disease (CVD) at higher rates and at earlier ages than control women. Current guidelines recommend longitudinal testing of glucose tolerance for women with prior GDM, but no formal assessments of cardiovascular disease are suggested. This study estimated the prevalence of metabolic syndrome in women with GDM in recent pregnancy who were followed for at least 1 year postpartum to quantify their cardiovascular risks. Read More

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http://dx.doi.org/10.1186/s40834-018-0080-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258433PMC
November 2018
2 Reads

ANNALS EXPRESS: Bile acids and the metabolic syndrome.

Ann Clin Biochem 2018 Nov 19:4563218817798. Epub 2018 Nov 19.

Imperial College London.

Bile acids have important roles in the regulation of lipid, glucose and energy metabolism. Metabolic diseases linked to obesity, including type 2 diabetes mellitus and non-alcoholic fatty liver disease, are associated with dysregulation of bile acid homeostasis. Here basic chemistry and regulation of bile acids will be reviewed, as well as their metabolic effects. Read More

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http://journals.sagepub.com/doi/10.1177/0004563218817798
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http://dx.doi.org/10.1177/0004563218817798DOI Listing
November 2018
3 Reads

Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria.

Oxf Med Case Reports 2018 Dec 5;2018(12):omy096. Epub 2018 Nov 5.

Department of Hematology, Faculty of Medicine, University of Damascus, Damascus, Syria.

Bloom syndrome is a rare autosomal recessive disease, in which BLM gene is mutated, leading to genome instability and proneness to malignancy. It is characterized by short stature, sun-sensitive rash and immunodeficiency. We present a case of bloom syndrome with myelodysplasia complicated by acute myeloid leukaemia. Read More

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https://academic.oup.com/omcr/article/doi/10.1093/omcr/omy09
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http://dx.doi.org/10.1093/omcr/omy096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217711PMC
December 2018
3 Reads

Progress report on new antiepileptic drugs: A summary of the Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV). II. Drugs in more advanced clinical development.

Epilepsia 2018 Oct;59(10):1842-1866

Department of Pharmacy, School of Pharmacy, University of Washington, Seattle, Washington.

The Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV) took place in Madrid, Spain, on May 13-16, 2018 and was attended by 168 delegates from 28 countries. The conference provided a forum for professionals involved in basic science, clinical research, regulatory affairs, and clinical care to meet and discuss the latest advances related to discovery and development of drugs and devices aimed at improving the management of people with epilepsy. This progress report provides a summary of findings on investigational compounds for which data from both preclinical studies and studies in patients were presented. Read More

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http://dx.doi.org/10.1111/epi.14555DOI Listing
October 2018
9 Reads

Grape polyphenols reduce gut-localized reactive oxygen species associated with the development of metabolic syndrome in mice.

PLoS One 2018 11;13(10):e0198716. Epub 2018 Oct 11.

Rutgers, The State University of New Jersey, Department of Plant Biology, Foran Hall, New Brunswick, NJ, United States of America.

High-fat diet (HFD)-induced leaky gut syndrome combined with low-grade inflammation increase reactive oxygen species (ROS) in the intestine and may contribute to dysbiosis and metabolic syndrome (MetS). Poorly bioavailable and only partially metabolizable dietary polyphenols, such as proanthocyanidins (PACs), may exert their beneficial effects on metabolic health by scavenging intestinal ROS. To test this hypothesis, we developed and validated a novel, noninvasive, in situ method for visualizing intestinal ROS using orally administered ROS-sensitive indocyanine green (ICG) dye. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0198716PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181265PMC
October 2018
1 Read

Advances in site-specific gene editing for primary immune deficiencies.

Authors:
Caroline Y Kuo

Curr Opin Allergy Clin Immunol 2018 Dec;18(6):453-458

Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, California, USA.

Purpose Of Review: Conventional gene therapy has been a successful, curative treatment modality for many primary immune deficiencies with significant improvements in the last decade. However, the risk of leukemic transformation with viral-mediated gene addition still remains, and unregulated gene addition is not an option for certain diseases in which the target gene is closely controlled. The recent bloom in genome modification platforms has created the opportunity to site-specifically correct mutated DNA base pairs or insert a corrective cDNA minigene while maintaining gene expression under control of endogenous regulatory elements. Read More

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http://dx.doi.org/10.1097/ACI.0000000000000483DOI Listing
December 2018
22 Reads

Platelet heterogeneity in activation-induced glycoprotein shedding: functional effects.

Blood Adv 2018 Sep;2(18):2320-2331

Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University Medical Centre, Maastricht, The Netherlands.

The platelet receptors glycoprotein Ibα (GPIbα) and GPVI are known to be cleaved by members of a disintegrin and metalloprotease (ADAM) family (ADAM10 and ADAM17), but the mechanisms and consequences of this shedding are not well understood. Our results revealed that (1) glycoprotein shedding is confined to distinct platelet populations showing near-complete shedding, (2) the heterogeneity between (non)shed platelets is independent of agonist type but coincides with exposure of phosphatidylserine (PS), and (3) distinct pathways of shedding are induced by elevated Ca, low Ca protein kinase C (PKC), or apoptotic activation. Furthermore, we found that receptor shedding reduces binding of von Willebrand factor, enhances binding of coagulation factors, and augments fibrin formation. Read More

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http://dx.doi.org/10.1182/bloodadvances.2017011544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156892PMC
September 2018
1 Read

Klebsiella oxytoca expands in cancer cachexia and acts as a gut pathobiont contributing to intestinal dysfunction.

Sci Rep 2018 Aug 17;8(1):12321. Epub 2018 Aug 17.

Metabolism and Nutrition Research Group, Louvain Drug Research Institute, Université catholique de Louvain, Brussels, Belgium.

Cancer cachexia is a complex multi-organ syndrome characterized by body weight loss, weakness, muscle atrophy and fat depletion. With a prevalence of 1 million people in Europe and only limited therapeutic options, there is a high medical need for new approaches to treat cachexia. Our latest results highlighted microbial dysbiosis, characterized by a bloom in Enterobacteriaceae and altered gut barrier function in preclinical models of cancer cachexia. Read More

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http://dx.doi.org/10.1038/s41598-018-30569-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098145PMC
August 2018
9 Reads

[Irritable bowel syndrome subtypes and characteristics in children from Panama, Ecuador,El Salvador, Nicaragua and Mexico].

Rev Gastroenterol Peru 2018 Apr-Jun;38(2):131-137

Servicios de Gastroenterología, Hospital del Niño y del Adolescente Morelense en Cuernavaca. Morelos, México.

Introduction: Few pediatric studies classify the irritable bowel syndrome (IBS) subtypes.

Objective: To describe the characteristics and subtypes of IBS in children from Panama, Ecuador, El Salvador, Nicaragua and Mexico.

Material And Methods: Prevalence study performed in children between 8 and 18 years of age with a diagnosis of IBS. Read More

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Treatment with camu camu () prevents obesity by altering the gut microbiota and increasing energy expenditure in diet-induced obese mice.

Gut 2018 Jul 31. Epub 2018 Jul 31.

Department of Medicine, Faculty of Medicine, Cardiology Axis of the Québec Heart and Lung Institute, Laval University, Québec, Canada.

Objective: The consumption of fruits is strongly associated with better health and higher bacterial diversity in the gut microbiota (GM). Camu camu () is an Amazonian fruit with a unique phytochemical profile, strong antioxidant potential and purported anti-inflammatory potential.

Design: By using metabolic tests coupled with 16S rRNA gene-based taxonomic profiling and faecal microbial transplantation (FMT), we have assessed the effect of a crude extract of camu camu (CC) on obesity and associated immunometabolic disorders in high fat/high sucrose (HFHS)-fed mice. Read More

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http://dx.doi.org/10.1136/gutjnl-2017-315565DOI Listing
July 2018
9 Reads

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Am J Hum Genet 2018 Aug 26;103(2):221-231. Epub 2018 Jul 26.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic testing. Here, we describe biallelic mutations in TOP3A in ten individuals with prenatal-onset growth restriction and microcephaly. Read More

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http://dx.doi.org/10.1016/j.ajhg.2018.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080766PMC
August 2018
7 Reads

Health supervision for people with Bloom syndrome.

Am J Med Genet A 2018 Sep 28;176(9):1872-1881. Epub 2018 Jul 28.

Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.

Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. Read More

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http://dx.doi.org/10.1002/ajmg.a.40374DOI Listing
September 2018
1 Read
2.160 Impact Factor

BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor.

Cell Rep 2018 Jul;24(4):947-961.e7

National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110067, India. Electronic address:

Mutations in BLM helicase predispose Bloom syndrome (BS) patients to a wide spectrum of cancers. We demonstrate that MIB1-ubiquitylated BLM in G1 phase functions as an adaptor protein by enhancing the binding of transcription factor c-Jun and its E3 ligase, Fbw7α. BLM enhances the K48/K63-linked ubiquitylation on c-Jun, thereby enhancing the rate of its subsequent degradation. Read More

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http://dx.doi.org/10.1016/j.celrep.2018.06.101DOI Listing
July 2018
1 Read

Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population.

Hum Pathol 2018 Dec 26;82:20-31. Epub 2018 Jun 26.

University of Virginia, Department of Pathology, Charlottesville, Virginia, USA. Electronic address:

As multigene panel testing for hereditary cancer syndromes becomes commonplace, germline mutations in genes other than BRCA1/2 are increasingly identified in breast cancer patients. While histopathologic features of BRCA-mutated breast cancers have been well-characterized, less is known about non-BRCA-related hereditary cancers. We herein investigate the clinicopathologic characteristics of breast cancers in women with non-BRCA germline mutations. Read More

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http://dx.doi.org/10.1016/j.humpath.2018.06.024DOI Listing
December 2018

Comprehensive care of ICU survivors: Development and implementation of an ICU recovery center.

J Crit Care 2018 08;46:141-148

Department of Pharmaceutical Services, Vanderbilt University Medical Center, Nashville, TN, United States.

Purpose: To describe the design and initial implementation of an Intensive Care Unit Recovery Center (ICU-RC) in the United States.

Materials And Methods: A prospective, observational feasibility study was undertaken at an academic hospital between July 2012 and December 2015. Clinical criteria were used to develop the ICU-RC, identify patients at high risk for post intensive care syndrome (PICS), and offer them post-ICU care. Read More

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http://dx.doi.org/10.1016/j.jcrc.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020044PMC
August 2018
1 Read

Pollinator specialization in the enigmatic Rafflesia cantleyi: A true carrion flower with species-specific and sex-biased blow fly pollinators.

Phytochemistry 2018 Sep 12;153:120-128. Epub 2018 Jun 12.

School of Life Sciences, University of KwaZulu-Natal, Pietermaritzburg, South Africa.

The plants of the enigmatic genus Rafflesia are well known for their gigantic flowers and their floral features such as pungent floral scent and vivid dark color, which mimics the food/brood sites of carrion. However, information on the pollination biology of this plant group remains limited and mostly anecdotal. In the present paper, we studied the floral volatiles of R. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00319422183019
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http://dx.doi.org/10.1016/j.phytochem.2018.06.005DOI Listing
September 2018
10 Reads

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

J Child Neurol 2018 Sep 8;33(10):642-650. Epub 2018 Jun 8.

1 Department of Neurology, Children's National Health System, Washington, DC, USA.

Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing, causative mutations in genes leading to central hypomyelination are being identified. Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelination with early respiratory failure. Read More

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http://dx.doi.org/10.1177/0883073818776157DOI Listing
September 2018
26 Reads

The Outcomes of Posterior Arthrodesis for Atlantoaxial Subluxation in Down Syndrome Patients: A Meta-Analysis.

Clin Spine Surg 2018 Aug;31(7):300-305

Department of Orthopaedic Surgery and Rehabilitation Medicine, Downstate Medical Center, State University of New York, Brooklyn, NY.

Study Design: This is a meta-analysis.

Objective: To establish rates of (1) neurological complications, (2) bony-related complications, (3) complications delaying recovery, (4) reoperation, and (5) fatalities following posterior cervical arthrodesis in Down syndrome (DS) patients with atlantoaxial subluxation. To determine if presenting symptoms had any relationship to postoperative complications. Read More

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http://dx.doi.org/10.1097/BSD.0000000000000658DOI Listing
August 2018
3 Reads

Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge.

Indian J Dermatol Venereol Leprol 2018 May 22. Epub 2018 May 22.

Department of Genetics, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, Mexico.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_787_16DOI Listing
May 2018
1 Read

[Clinical and molecular analysis of two Chinese siblings with Bloom syndrome].

Zhonghua Er Ke Za Zhi 2018 May;56(5):373-376

Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai 200127, China.

To expand the knowledge of the clinical and molecular characteristics of the children with Bloom syndrome. Clinical data of two siblings with classic Bloom syndrome of Shanghai Children's Medical Center from January 2009 to June 2017 were obtained and analyzed. The DNA of peripheral blood was collected from two Bloom syndrome siblings and their parents during 2015. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2018.05.013DOI Listing
May 2018
4 Reads

RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.

Mech Ageing Dev 2018 07 9;173:80-83. Epub 2018 May 9.

Department of Clinical Cell Biology and Medicine, Chiba University, Graduate School of Medicine, Chiba, Japan.

Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. Read More

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http://dx.doi.org/10.1016/j.mad.2018.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217841PMC
July 2018
6 Reads

Placental DNA Methylation Adaptation to Maternal Glycemic Response in Pregnancy.

Diabetes 2018 08 11;67(8):1673-1683. Epub 2018 May 11.

Division of Chronic Disease Research Across the Lifecourse, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA

Maternal hyperglycemia during pregnancy is associated with excess fetal growth and adverse perinatal and developmental outcomes. Placental epigenetic maladaptation may underlie these associations. We performed an epigenome-wide association study (>850,000 CpG sites) of term placentas and prenatal maternal glycemic response 2-h post oral glucose challenge at 24-30 weeks of gestation among 448 mother-infant pairs. Read More

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http://dx.doi.org/10.2337/db18-0123DOI Listing
August 2018
1 Read

Tumor Syndromes Predisposing to Osteosarcoma.

Adv Anat Pathol 2018 Jul;25(4):217-222

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

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http://dx.doi.org/10.1097/PAP.0000000000000190DOI Listing
July 2018
5 Reads

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

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http://dx.doi.org/10.1101/mcs.a002816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880269PMC
April 2018
1 Read

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 Jun 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

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http://dx.doi.org/10.1016/j.jnutbio.2018.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5971143PMC
June 2018
2 Reads

Genes, Proteins, and Biological Pathways Preventing Chromothripsis.

Authors:
Martin Poot

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

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http://dx.doi.org/10.1007/978-1-4939-7780-2_15DOI Listing
January 2018

Genetic mapping of species differences via in vitro crosses in mouse embryonic stem cells.

Proc Natl Acad Sci U S A 2018 04 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

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http://dx.doi.org/10.1073/pnas.1717474115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889640PMC
April 2018
2 Reads

MRN complex-dependent recruitment of ubiquitylated BLM helicase to DSBs negatively regulates DNA repair pathways.

Nat Commun 2018 03 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

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http://dx.doi.org/10.1038/s41467-018-03393-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844875PMC
March 2018
4 Reads

Critical Care Pharmacists and Medication Management in an ICU Recovery Center.

Ann Pharmacother 2018 Aug 18;52(8):713-723. Epub 2018 Feb 18.

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

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http://dx.doi.org/10.1177/1060028018759343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039256PMC
August 2018
8 Reads

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 03 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

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http://dx.doi.org/10.1021/acs.biomac.7b01607DOI Listing
March 2018
14 Reads
5.750 Impact Factor

Collaboration in the actions of Brh2 with resolving functions during DNA repair and replication stress in Ustilago maydis.

DNA Repair (Amst) 2018 03 2;63:47-55. Epub 2018 Feb 2.

Department of Microbiology and Immunology, Weill Cornell Medical College, New York, NY, USA. Electronic address:

Cells maintain a small arsenal of resolving functions to process and eliminate complex DNA intermediates that result as a consequence of homologous recombination and distressed replication. Ordinarily the homologous recombination system serves as a high-fidelity mechanism to restore the integrity of a damaged genome, but in the absence of the appropriate resolving function it can turn DNA intermediates resulting from replication stress into pathological forms that are toxic to cells. Here we have investigated how the nucleases Mus81 and Gen1 and the helicase Blm contribute to survival after DNA damage or replication stress in Ustilago maydis cells with crippled yet homologous recombination-proficient forms of Brh2, the BRCA2 ortholog and primary Rad51 mediator. Read More

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http://dx.doi.org/10.1016/j.dnarep.2018.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826808PMC
March 2018
2 Reads

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

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http://dx.doi.org/10.1002/1873-3468.12992DOI Listing
February 2018
4 Reads

miR-522-3p Promotes Tumorigenesis in Human Colorectal Cancer via Targeting Bloom Syndrome Protein.

Oncol Res 2018 Aug 31;26(7):1113-1121. Epub 2018 Jan 31.

Department of Gastrointestinal Surgery, Linyi People's Hospital, Linyi, Shandong, P.R. China.

miR-522-3p is known to degrade bloom syndrome protein (BLM) and enhance expression of other proto-oncogenes, leading to tumorigenesis. 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

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http://dx.doi.org/10.3727/096504018X15166199939341DOI Listing
August 2018
3 Reads

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

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http://dx.doi.org/10.1038/s41467-017-02760-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773480PMC
January 2018
9 Reads

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

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http://dx.doi.org/10.1038/s41477-017-0084-7DOI Listing
January 2018
8 Reads

The BLM Helicase: Keeping recombination honest?

Cell Cycle 2018 16;17(4):401-402. Epub 2018 Jan 16.

a Department of Molecular Biology and Biochemistry , Rutgers, The State University of New Jersey , Piscataway , NJ 08854 , USA.

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http://dx.doi.org/10.1080/15384101.2017.1421045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5927712PMC
January 2018
2 Reads

Arctic berry extracts target the gut-liver axis to alleviate metabolic endotoxaemia, insulin resistance and hepatic steatosis in diet-induced obese mice.

Diabetologia 2018 04 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

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http://dx.doi.org/10.1007/s00125-017-4520-zDOI Listing
April 2018
18 Reads

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

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http://dx.doi.org/10.3390/v9120366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5744141PMC
December 2017
4 Reads