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    Serum vitamin C levels modulate the lifespan and endoplasmic reticulum stress response pathways in mice synthesizing a nonfunctional mutant WRN protein.
    FASEB J 2018 Feb 8:fj201701176R. Epub 2018 Feb 8.
    Centre de Recherche du Centre Hospitalier de l'Université (CHU) de Québec, Faculté de Médecine, Université Laval, Quebec City, Quebec, Canada.
    Werner syndrome (WS) is a premature aging disorder caused by mutations in a RecQ-family DNA helicase (WRN). Mice lacking part of the helicase domain of the WRN ortholog exhibit several phenotypic features of WS. In this study, we generated a Wrn mutant line that, like humans, relies entirely on dietary sources of vitamin C (ascorbate) to survive, by crossing them to mice that lack the gulonolactone oxidase enzyme required for ascorbate synthesis. Read More

    CCR2-dependent Gr1high monocytes promote kidney injury in shiga toxin-induced hemolytic uremic syndrome in mice.
    Eur J Immunol 2018 Feb 14. Epub 2018 Feb 14.
    Institute of Experimental Immunology and Imaging, University Duisburg-Essen and University Hospital Essen, Essen, Germany.
    The hemolytic uremic syndrome (HUS) is a life-threatening disease of the kidney that is induced by Shiga toxin-producing E.coli. Major changes in the monocytic compartment and in CCR2-binding chemokines have been observed. Read More

    Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review.
    Childs Nerv Syst 2018 Feb 13. Epub 2018 Feb 13.
    Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), Rua Belchior de Azevedo, 156 apto. 111 Torre Vitoria, São Paulo, SP, CEP 05089-030, Brazil.
    Objective: This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models.

    Methods: We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data. Read More

    Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome.
    Mutat Res 2018 Feb 9;826:47-52. Epub 2017 Dec 9.
    CSIRO Health and Biosecurity, Personalised Nutrition & Healthy Ageing, Gate 13, Kintore Ave, Adelaide, South Australia, 5000, Australia; University of Adelaide, Department of Molecular and Cellular Biology, School of Biological Sciences, Adelaide, South Australia, 5005, Australia. Electronic address:
    Guanine-quadruplexes (G4) are stable tetra-stranded DNA structures that may cause DNA replication stress and inhibit gene expression. Defects in unwinding these structures by DNA helicases may result in telomere shortening and DNA damage. Furthermore, due to mutations in WRN helicase genes in Werner syndrome, G4 motifs are likely to be key elements in the expression of premature aging phenotypes. Read More

    Identification of thioredoxin-interacting protein (TXNIP) as a downstream target for IGF1 action.
    Proc Natl Acad Sci U S A 2018 Jan 16;115(5):1045-1050. Epub 2018 Jan 16.
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel;
    Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is the best-characterized entity among the congenital insulin-like growth factor 1 (IGF1) deficiencies. Life-long exposure to minute endogenous IGF1 levels is linked to low stature as well as a number of endocrine and metabolic abnormalities. While elevated IGF1 is correlated with increased cancer incidence, epidemiological studies revealed that patients with LS do not develop tumors. Read More

    Lymphatic malformation with acquired Horner syndrome in an infant.
    J Neurointerv Surg 2018 Mar 11;10(3):e2. Epub 2018 Jan 11.
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
    An infant presented with right upper eyelid ptosis and was subsequently diagnosed with acquired Horner syndrome. Further evaluation revealed a right-sided cervicothoracic lymphatic malformation. At 13 weeks of age, the child underwent percutaneous intracystic sclerotherapy with a mixture of sodium tetradecyl sulphate and ethanol. Read More

    Microglia ablation alleviates myelin-associated catatonic signs in mice.
    J Clin Invest 2018 Feb 18;128(2):734-745. Epub 2017 Dec 18.
    DFG Research Center for Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB), Göttingen, Germany.
    The underlying cellular mechanisms of catatonia, an executive "psychomotor" syndrome that is observed across neuropsychiatric diseases, have remained obscure. In humans and mice, reduced expression of the structural myelin protein CNP is associated with catatonic signs in an age-dependent manner, pointing to the involvement of myelin-producing oligodendrocytes. Here, we showed that the underlying cause of catatonic signs is the low-grade inflammation of white matter tracts, which marks a final common pathway in Cnp-deficient and other mutant mice with minor myelin abnormalities. Read More

    Troubling disease syndrome in endangered live Patagonian huemul deer (Hippocamelus bisulcus) from the Protected Park Shoonem: unusually high prevalence of osteopathology.
    BMC Res Notes 2017 Dec 16;10(1):739. Epub 2017 Dec 16.
    Laboratorio de Teriogenología "Dr. Héctor H. Morello", Facultad de Ciencias Agrarias, Univ. Nac. Comahue, Cinco Saltos, DeerLab, 8400, Bariloche, Argentina.
    Objective: The last 1500 endangered Patagonian huemul deer (Hippocamelus bisulcus) exist in > 100 groups which are not recovering. Prevalence of osteopathology in dead huemul was 57+% (Argentina), whereas similar cases in Chile were accompanied by selenium deficiency. The first clinical cases from live wild huemul confirm widespread osteopathology which explains short life spans, low recruitment, and thus absence of population recovery. Read More

    The Association of Perioperative Glycemic Control With Postoperative Surgical Site Infection Following Open Carpal Tunnel Release in Patients With Diabetes.
    Hand (N Y) 2017 Dec 1:1558944717743594. Epub 2017 Dec 1.
    1 University of Virginia Health System, Charlottesville, USA.
    Background: The primary goal of the study was to evaluate the association of hemoglobin A1c (HbA1c) levels in diabetic patients with the incidence of surgical site infection (SSI) following open carpal tunnel release (CTR). Our secondary objective was to calculate an HbA1c level in diabetic patients that predicted SSI after open CTR.

    Methods: A national private-payer insurance database was queried for patients who underwent open CTR using Current Procedural Terminology (CPT) code 64721. Read More

    Hereditary and familial thyroid tumours.
    Histopathology 2018 Jan;72(1):70-81
    Massachusetts General Hospital, Boston, MA, USA.
    The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Read More

    Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.
    Sex Dev 2017 Dec 14. Epub 2017 Dec 14.
    Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, Brazil.
    Androgens are responsible for the development and maintenance of male sex characteristics. Dysfunctions in androgen action due to mutations in the androgen receptor gene (AR) can lead to androgen insensitivity syndrome (AIS) that can be classified as mild (MAIS), partial (PAIS), or complete (CAIS). We have analyzed functional effects of p. Read More

    Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
    Hered Cancer Clin Pract 2017 29;15:22. Epub 2017 Nov 29.
    Institute of Human Genetics, University of Bonn, Bonn, Germany.
    Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (,mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified.

    Methods: To identify somatic point mutations in potential novel candidate genes of SPS-associated lesions and the involved pathways we performed exome sequencing of eleven early serrated polyps obtained from a 41 year-old female patient with clinically confirmed SPS. Read More

    Differential expression of IGFBPs in Laron syndrome-derived lymphoblastoid cell lines: Potential correlation with reduced cancer incidence.
    Growth Horm IGF Res 2017 Nov 24. Epub 2017 Nov 24.
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Yoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address:
    Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is a growth disorder that results from mutation of the GH-receptor (GHR) gene leading to congenital insulin-like growth factor-1 (IGF-1) deficiency. Recent epidemiological studies have shown that LS patients are protected from cancer development. Genome-wide profiling identified genes and signaling pathways that are differentially represented in LS patients, and that may contribute to cancer protection. Read More

    Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
    Endocr J 2017 Dec 2. Epub 2017 Dec 2.
    Department of Genome Medicine, National Research Institute for Child Health, Setagaya, Tokyo 157-8535, Japan.
    Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present a "sporadic/isolated" Japanese woman who was ultimately diagnosed with mandibular hypoplasia, deafness, progeroid features, and progressive lipodystrophy (MDPL) syndrome (MIM #615381) using whole exome sequencing analysis. She had been suspected as having atypical Werner syndrome and/or progeroid syndrome based on observations spanning a 30-year period; however, repeated genetic testing by Sanger sequencing did not identify any causative mutation related to various subtypes of congenital partial lipodystrophy (CPLD) and/or mandibular dysplasia with lipodystrophy (MAD). Read More

    Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
    Acta Ophthalmol 2017 Nov 30. Epub 2017 Nov 30.
    Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
    Purpose: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene.

    Methods: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination. Read More

    Novel mosaic variants in two patients with Cornelia de Lange syndrome.
    Eur J Med Genet 2017 Nov 15. Epub 2017 Nov 15.
    Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:
    Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte DNA. Read More

    Accelerated aging and aging process in the brain.
    Rev Neurosci 2017 Nov 18. Epub 2017 Nov 18.
    One of the approaches to the research of the problem of aging is the study of genetic pathologies leading to accelerated aging, such as the Hutchinson-Gilford progeria syndrome, Werner syndrome, and Down syndrome. Probably, this approach can be used in an attempt to understand the neuronal mechanisms underlying normal and pathological brain aging. The analysis of the current state of scientific knowledge about these pathologies shows that in the Hutchinson-Gilford progeria and Werner syndrome, the rate of brain aging is significantly lower than the rate of whole body aging, whereas in Down syndrome, the brain ages faster than other organs due to amyloid-beta accumulation and chronic oxidative stress in the brain tissue. Read More

    Are There Different Kinds of Aging?
    Curr Aging Sci 2017 Nov 16. Epub 2017 Nov 16.
    University Politehnica Bucharest. Romania.
    A critical analysis of the accelerated aging syndromes may explain what aging is, but also why some tissues and organs age at accelerated rates in comparison with aging rates of other tissues. Syndromes of accelerated aging are caused by mutations affecting the integrity of the genetic material. Among them, the most studied is Werner's syndrome, "adult progeria", caused by a recessive autosomal mutation with a frequency of 1 in 10 millions, which affects a helicase involved in DNA repair. Read More

    Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases.
    Ageing Res Rev 2018 Jan 14;41:82-97. Epub 2017 Nov 14.
    Departments of Pathology and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
    Werner syndrome (WS) is a heritable autosomal recessive human disorder characterized by the premature onset of several age-associated pathologies including cancer. The protein defective in WS patients, WRN, is encoded by a member of the human RECQ gene family that contains both a DNA exonuclease and a helicase domain. WRN has been shown to participate in several DNA metabolic pathways including DNA replication, recombination and repair, as well as telomere maintenance and transcription modulation. Read More

    The Potential of iPSCs for the Treatment of Premature Aging Disorders.
    Int J Mol Sci 2017 Nov 7;18(11). Epub 2017 Nov 7.
    Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Children's Research Hospital Bambino Gesù, IRCCS, 00146 Rome, Italy.
    Premature aging disorders including Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome, are a group of rare monogenic diseases leading to reduced lifespan of the patients. Importantly, these disorders mimic several features of physiological aging. Despite the interest on the study of these diseases, the underlying biological mechanisms remain unknown and no treatment is available. Read More

    ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
    Hum Mutat 2018 Feb 17;39(2):255-265. Epub 2017 Nov 17.
    Department of Pathology, University of Washington, Seattle, Washington.
    Pathogenic variants in genes, which encode DNA repair and damage response proteins, result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with ERCC1 and is required for the 5' incision during nucleotide excision repair. ERCC4 is also FANCQ, illustrating a critical role in interstrand crosslink repair. Read More

    Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
    Cancer Lett 2018 Jan 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

    Lymphatic malformation with acquired Horner syndrome in an infant.
    BMJ Case Rep 2017 Oct 23;2017. Epub 2017 Oct 23.
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
    An infantpresented with right upper eyelid ptosis and was subsequently diagnosed with acquired Horner syndrome. Further evaluation revealed a right-sided cervicothoracic lymphatic malformation. At 13 weeks of age, the child underwent percutaneous intracystic sclerotherapy with a mixture of sodium tetradecyl sulphate and ethanol. Read More

    Patient-Related Risk Factors for Infection Following Open Carpal Tunnel Release: An Analysis of Over 450,000 Medicare Patients.
    J Hand Surg Am 2017 Oct 18. Epub 2017 Oct 18.
    Department of Orthopaedic Surgery, University of Virginia Health System, Charlottesville, VA. Electronic address:
    Purpose: To establish the rate of postoperative infection after open carpal tunnel release (CTR) on a national level using an administrative database and define relevant patient-related risk factors associated with its occurrence.

    Methods: The PearlDiver patient records database was used to query the 100% Medicare Standard Analytic Files retrospectively from 2005 to 2012 for patients undergoing open CTR using Current Procedural Terminology code 64721. Postoperative infection within 90 days of surgery was assessed using both International Classification of Diseases, Ninth Revision codes for diagnoses of postoperative infection or pyogenic arthritis of the wrist and Current Procedural Terminology codes for procedures for these indications, including either open or arthroscopic irrigation and debridement. Read More

    Recent Advances in Understanding Werner Syndrome.
    F1000Res 2017 28;6:1779. Epub 2017 Sep 28.
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, USA.
    Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA repair genes as well as in telomerase subunits are known to cause progeroid syndromes. Read More

    Obstructive Müllerian Anomalies in Menstruating Adolescent Girls: A Report of 22 Cases.
    J Pediatr Adolesc Gynecol 2017 Oct 10. Epub 2017 Oct 10.
    Division of Gynecology, Department of Perinatology and Gynecology, Poznań University of Medical Sciences, Poznań, Poland.
    Study Objective: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche.

    Design: A retrospective case series of adolescents who, between 2009 and 2016, were treated for vaginal or uterine obstructive malformations diagnosed after menarche.

    Setting: Division of Gynecology, Poznań University of Medical Sciences, Poznań, Poland. Read More

    Fibromyalgia as a Predictor of Complex Regional Pain Syndrome After Distal Radius Fracture.
    Hand (N Y) 2017 Oct 1:1558944717735949. Epub 2017 Oct 1.
    1 University of Virginia Health System, Charlottesville, USA.
    Background: Complex regional pain syndrome (CRPS) can be a devastating complication following extremity injury, but risk factors are not well understood. The purpose of this study was to investigate the association between fibromyalgia and the development of CRPS after distal radius fracture.

    Methods: The PearlDiver Medicare database was queried using International Classification of Diseases, 9th Revision (ICD-9) and Current Procedural Terminology (CPT) codes for diagnoses and treatments of distal radius fractures. Read More

    True management of Obstructed Hemi-vagina and Ipsilateral Renal Anomaly syndrome.
    Turk J Obstet Gynecol 2016 Dec 15;13(4):208-211. Epub 2016 Dec 15.
    Ankara University Faculty of Medicine, Department of Obstetrics and Gynecology, Ankara, Turkey.
    Herlyn-Werner-Wunderlich syndrome is an unusual congenital anomaly of the female genitourinary system, which is described as uterine didelphys with Obstructed Hemi-vagina and Ipsilateral Renal Anomaly (OHIRA), also known as OHVIRA syndrome. Typical symptoms are pelvic pain, tenderness, pelvic mass due to blood collection in the obstructed hemi-vagina and uterus, and dysmenorrhea that usually begins shortly after menarche. Clinical suspicion is very important for diagnosis and correct management avoids both short- and long-term complications. Read More

    [Diagnostics and management of herpes zoster ophthalmicus].
    Ophthalmologe 2017 Oct;114(10):959-972
    Universitäts-Augenklinik, Uveitis Zentrum, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Augustenburger Platz 1, 13353, Berlin, Deutschland.
    Herpes zoster (HZ, shingles) represents the secondary manifestation of an infection with varicellazoster virus (VZV). A reactivation of dormant VZV in the ophthalmic branch of the fifth cranial nerve leads to ophthalmic HZ (HZO). The predominantly older and immune compromised patients often present with eye involvement (approximately 50%) as well as characteristic skin changes. Read More

    Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome.
    Clin Epigenetics 2017 30;9:92. Epub 2017 Aug 30.
    CRIIS (Interdisciplinary, Interdepartmental and Specialistic Reference Center for Early Diagnosis of Scleroderma, Treatment of Sclerodermic Ulcers and Videocapillaroscopy), Sandro Pertini Hospital, Rome, Italy.
    Background: Werner syndrome is a progeroid disorder characterized by premature age-related phenotypes. Although it is well established that autosomal recessive mutations in the WRN gene is responsible for Werner syndrome, the molecular alterations that lead to disease phenotype remain still unidentified.

    Results: To address whether epigenetic changes can be associated with Werner syndrome phenotype, we analysed genome-wide DNA methylation profile using the Infinium MethylationEPIC BeadChip in the whole blood from three patients affected by Werner syndrome compared with three age- and sex-matched healthy controls. Read More

    Ratiometric Catalyzed-Assembly of NanoCluster Beacons: A Nonenzymatic Approach for Amplified DNA Detection.
    ACS Appl Mater Interfaces 2017 Sep 5;9(37):32089-32096. Epub 2017 Sep 5.
    College of Chemistry and Pharmaceutical Sciences, Qingdao Agricultural University , Qingdao, 266109, People's Republic of China.
    In this work, a novel fluorescent transformation phenomenon of oligonucleotide-encapsulated silver nanoclusters (AgNCs) was demonstrated, in which green-emissive AgNCs effectively transformed to red-emissive AgNCs when placed in close proximity to a special DNA fragment (denoted as convertor here). Taking advantage of a catalyzed-hairpin-assembly (CHA) amplification strategy, we rationally and compatibly engineered a simple and sensitive AgNC-based fluorescent signal amplification strategy through the ratiometric catalyzed-assembly (RCA) of green-emissive NanoCluster Beacon (NCB) with a convertor modified DNA hairpin to induce the template transformation circularly. The proposed ratiometric fluorescent biosensing platform based on RCA-amplified NCB (RCA-NCB) emits intense green fluorescence in the absence of target DNA and will undergo consecutively fluorescent signal transformation from green emission to red emission upon exposure to its target DNA. Read More

    SAMHD1 Promotes DNA End Resection to Facilitate DNA Repair by Homologous Recombination.
    Cell Rep 2017 Aug;20(8):1921-1935
    Department of Radiation Oncology, Emory University School of Medicine, Atlanta, GA 30322, USA; Winship Cancer Institute of Emory University, Atlanta, GA 30322, USA. Electronic address:
    DNA double-strand break (DSB) repair by homologous recombination (HR) is initiated by CtIP/MRN-mediated DNA end resection to maintain genome integrity. SAMHD1 is a dNTP triphosphohydrolase, which restricts HIV-1 infection, and mutations are associated with Aicardi-Goutières syndrome and cancer. We show that SAMHD1 has a dNTPase-independent function in promoting DNA end resection to facilitate DSB repair by HR. Read More

    Initial experience of catheter ablation for cardiac arrhythmias in children and adolescents at a newly built ablation centre.
    Kardiol Pol 2018 23;76(1):130-135. Epub 2017 Aug 23.
    Department of Paediatric Cardiology and General Paediatrics, 2nd Faculty of Medicine, Medical University of Warsaw, Warsaw, Poland.
    Background: Catheter ablation (CA) therapy is the first-choice treatment in adults with heart rhythm disturbances. Arrhythmias in adults are mainly conditioned by coronary artery disease. Aetiology of arrhythmias in children is mostly associated with inherited heart disorders. Read More

    Sex chromosomes drive gene expression and regulatory dimorphisms in mouse embryonic stem cells.
    Biol Sex Differ 2017 Aug 17;8(1):28. Epub 2017 Aug 17.
    Fels Institute for Cancer Research, Temple University School of Medicine, 3400 N. Broad St. PAHB Room 201, Philadelphia, PA, 19140, USA.
    Background: Pre-implantation embryos exhibit sexual dimorphisms in both primates and rodents. To determine whether these differences reflected sex-biased expression patterns, we generated transcriptome profiles for six 40,XX, six 40,XY, and two 39,X mouse embryonic stem (ES) cells by RNA sequencing.

    Results: We found hundreds of coding and non-coding RNAs that were differentially expressed between male and female cells. Read More

    Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation.
    Indian J Gastroenterol 2017 Jul 9;36(4):323-325. Epub 2017 Aug 9.
    Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantri Nagar, Gorimedu, Puducherry, 605 006, India.
    Werner syndrome is a rare progeroid syndrome caused by the WRN gene mutation. It is characterized by a general appearance of premature aging, diabetes mellitus, and atherosclerosis, and an increased risk of malignancies. We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome. Read More

    The Conserved Sonic Hedgehog Limb Enhancer Consists of Discrete Functional Elements that Regulate Precise Spatial Expression.
    Cell Rep 2017 Aug;20(6):1396-1408
    MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:
    Expression of sonic hedgehog (Shh) in the limb bud is regulated by an enhancer called the zone of polarizing activity regulatory sequence (ZRS), which, in evolution, belongs to an ancient group of highly conserved cis regulators found in all classes of vertebrates. Here, we examined the endogenous ZRS in mice, using genome editing to establish the relationship between enhancer composition and embryonic phenotype. We show that enhancer activity is a consolidation of distinct activity domains. Read More

    Herlyn-Werner-Wunderlich syndrome: An unusual presentation with pyocolpos.
    Obstet Gynecol Sci 2017 Jul 14;60(4):374-377. Epub 2017 Jul 14.
    Department of Obstetrics and Gynecology, Inje University Busan Paik Hospital, Busan, Korea.
    Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. Read More

    Werner Syndrome and Diabetes Mellitus Accompanied by Adrenal Cortex Cancer.
    Intern Med 2017 1;56(15):1987-1992. Epub 2017 Aug 1.
    Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, Japan.
    Werner syndrome is a rare genetic disease characterized by progeria, diabetes mellitus, cataracts and various types of malignancy. However, there are few reports showing adrenal cortex cancer in subjects with Werner syndrome. We herein report an extremely rare case of Werner syndrome accompanied by adrenal cortex cancer. Read More

    Efficacy and Safety of MIN-101: A 12-Week Randomized, Double-Blind, Placebo-Controlled Trial of a New Drug in Development for the Treatment of Negative Symptoms in Schizophrenia.
    Am J Psychiatry 2017 12 28;174(12):1195-1202. Epub 2017 Jul 28.
    From the Department of Psychiatry, Tel Aviv University Sackler School of Medicine, Tel Aviv, Israel; PPRS Research, Rouffach, France; Minerva Neurosciences, Waltham, Mass.; and the Louis and Gabi Weisfeld School of Social Work, Faculty of Social Sciences, Bar Ilan University, Ramat Gan, Israel.
    Objective: The authors assessed the efficacy, safety, and tolerability of MIN-101, a compound with affinities for sigma-2 and 5-HTreceptors and no direct dopamine affinities, in comparison with placebo in treating negative symptoms in stabilized patients with schizophrenia.

    Method: The trial enrolled 244 patients who had been symptomatically stable for at least 3 months and had scores of at least 20 on the negative subscale of the Positive and Negative Syndrome Scale (PANSS). After at least 5 days' withdrawal from all antipsychotic medication, patients were randomly assigned to receive placebo or 32 mg/day or 64 mg/day of MIN-101 for 12 weeks. Read More

    Werner syndrome: a model for sarcopenia due to accelerated aging.
    Aging (Albany NY) 2017 Jul;9(7):1738-1744
    Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba, 260-8670, Japan.
    Werner syndrome (WS) is a rare inheritable progeroid syndrome caused by a mutation in the WRN gene. Although WS has been described as a characteristic appearance of very slender extremities with a stocky trunk, few studies have investigated the loss of muscle mass, fat mass distribution (body composition), and mobility according to age and sex. Therefore, the aim of this study was to precisely describe the body composition in WS. 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

    The Relationship between Werner Syndrome and Sinonasal Malignant Melanoma: Two Sibling Cases of Werner Syndrome with Malignant Melanoma.
    Case Rep Otolaryngol 2017 22;2017:9361612. Epub 2017 Jun 22.
    Department of Otolaryngology, Oita University Faculty of Medicine, 1-1 Idaigaoka, Hazama-cho, Yufu City, Oita 879-5593, Japan.
    Werner syndrome (WS) is an autosomal recessive disease characterized by premature aging. Malignant tumors such as thyroid carcinoma and malignant melanoma occur frequently in WS patients. We describe 2 siblings with WS who suffered from sinonasal malignant melanoma (MM). Read More

    Roles of RNase P and Its Subunits.
    Trends Genet 2017 Sep 8;33(9):594-603. Epub 2017 Jul 8.
    Department of Microbiology and Molecular Genetics, IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem 91120, Israel. Electronic address:
    Recent studies show that nuclear RNase P is linked to chromatin structure and function. Thus, variants of this ribonucleoprotein (RNP) complex bind to chromatin of small noncoding RNA genes; integrate into initiation complexes of RNA polymerase (Pol) III; repress histone H3.3 nucleosome deposition; control tRNA and PIWI-interacting RNA (piRNA) gene clusters for genome defense; and respond to Werner syndrome helicase (WRN)-related replication stress and DNA double-strand breaks (DSBs). 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

    Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies.
    Front Pediatr 2017 9;5:135. Epub 2017 Jun 9.
    Department of Translational Medical Sciences, Federico II University, Naples, Italy.
    Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper and lower respiratory tract disease, infertility/ectopic pregnancy, and situs anomalies, that occur in ≈50% of PCD patients (Kartagener syndrome), and these may be associated with congenital heart abnormalities. Read More

    The Caenorhabditis elegans WRN helicase promotes double-strand DNA break repair by mediating end resection and checkpoint activation.
    FEBS Lett 2017 07 4;591(14):2155-2166. Epub 2017 Jul 4.
    Department of Biochemistry, College of Life Science & Biotechnology, Yonsei University, Seoul, Korea.
    The protein associated with Werner syndrome (WRN), is involved in DNA repair, checkpoint activation, and telomere maintenance. To better understand the involvement of WRN in double-strand DNA break (DSB) repair, we analyzed the combinatorial role of WRN-1, the Caenorhabditis elegans WRN helicase, in conjunction with EXO-1 and DNA-2 nucleases. We found that WRN-1 cooperates with DNA-2 to resect DSB ends in a pathway acting in parallel to EXO-1. 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

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