Brief Genetics Report Deletion of Nicotinamide Nucleotide Transhydrogenase a New Quantitive Trait Locus Accounting for Glucose Intolerance in C57BL/6J Mice Helen C
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Deficiency of the Zinc Finger Protein ZFP106 Causes Motor and Sensory
Human Molecular Genetics, 2016, Vol. 25, No. 2 291–307 doi: 10.1093/hmg/ddv471 Advance Access Publication Date: 24 November 2015 Original Article ORIGINAL ARTICLE Deficiency of the zinc finger protein ZFP106 causes Downloaded from https://academic.oup.com/hmg/article/25/2/291/2384594 by guest on 23 September 2021 motor and sensory neurodegeneration Peter I. Joyce1, Pietro Fratta2,†, Allison S. Landman1,†, Philip Mcgoldrick2,†, Henning Wackerhage3, Michael Groves2, Bharani Shiva Busam3, Jorge Galino4, Silvia Corrochano1, Olga A. Beskina2, Christopher Esapa1, Edward Ryder4, Sarah Carter1, Michelle Stewart1, Gemma Codner1, Helen Hilton1, Lydia Teboul1, Jennifer Tucker1, Arimantas Lionikas3, Jeanne Estabel5, Ramiro Ramirez-Solis5, Jacqueline K. White5, Sebastian Brandner2, Vincent Plagnol6, David L. H. Bennet4,AndreyY.Abramov2,LindaGreensmith2,*, Elizabeth M. C. Fisher2,* and Abraham Acevedo-Arozena1,* 1MRC Mammalian Genetics Unit, Harwell, Oxfordshire OX11 0RD, UK, 2UCL Institute of Neurology and MRC Centre for Neuromuscular Disease, Queen Square, London WC1N 3BG, UK, 3Health Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UK, 4Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK, 5Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK and 6UCL Genetics Institute, London WC1E 6BT, UK *To whom correspondence should be addressed. Email: [email protected] (A.A.)/e.fi[email protected] (E.M.C.F.)/[email protected] (L.G.) Abstract Zinc finger motifs are distributed amongst many eukaryotic protein families, directing nucleic acid–protein and protein–protein interactions. Zinc finger protein 106 (ZFP106) has previously been associated with roles in immune response, muscle differentiation, testes development and DNA damage, although little is known about its specific function. -
Abstracts of Papers Presented at the Tenth Mammalian Genetics And
Genet. Res., Camb. (2000), 76, pp. 199–214. Printed in the United Kingdom # 2000 Cambridge University Press 199 Abstracts of papers presented at the tenth Mammalian Genetics and Deelopment Workshop (Incorporating the Promega Young Geneticists’ Meeting) held at the Institute of Child Health, Uniersity College London on 17–19Noember 1999 " # Edited by: ANDREW J. COPP AND ELIZABETH M. C. FISHER 1Institute of Child Health, Uniersity College London, 30 Guilford Street, London WC1N 1EH, UK # Neurogenetics Unit, Imperial College School of Medicine, St Mary’s Hospital, Norfolk Place, London W2 1PG, UK Sponsored by: The Genetical Society, Promega (UK) Ltd and B&K Universal Group Ltd Evidence for imprinting in type 2 diabetes: detection of Identification of a locus for primary ciliary dyskinesia parent-of-origin effects at the insulin gene on chromosome 19 " " " STEWART HUXTABLE, PHILIP SAKER, LEMA S. L. SPIDEN , M. MEEKS , A. J. WALNE ,H. # # HADDAD, ANDREW HATTERSLEY, MARK BLAU , H. MUSSAFFI-GEORGY ,H. $ % % WALKER and MARK McCARTHY SIMPSON , M. EL FEHAID , M. CHEEBAB ,M. % % Section of Endocrinology, Imperial College School of AL-DABBAGH , H. D. HAMMUM ,R.M. " " Medicine, St Mary’s Hospital, London, UK GARDINER , E. M. K. CHUNG and H. M. " MITCHISON " Variation at the insulin gene (INS) VNTR is impli- Department of Paediatrics, Royal Free and Uniersity cated in type 1 diabetes, polycystic ovarian syndrome College Medical School, Uniersity College London, # and birthweight. Case-control studies inconsistently UK; Schneider Children’s Medical Center of Israel, $ show class III VNTR association with type 2 diabetes, Petech Tika, Israel; School of Medical Sciences, but may result from population stratification. -
View Eposter
Combined glucocorticoid and mineralocorticoid deficiency related to a new NNT mutation : a case report E.Doye 1, CL.Gay 1, S.Castets 1, F.Roucher-Boulez 2, Y.Morel 2, I.Plotton 2, M.Nicolino 1 1 CHU Hospices Civils de Lyon, Service d’Endocrinologie Pédiatrique, Lyon, France ; 2 Hospices Civils de Lyon, Laboratoire d’Endocrinologie Moléculaire et Maladies Rares, Lyon, France BACKGROUND OBJECTIVE Familial glucocorticoid deficiency is an autosomal recessive disorder To describe a new case of familial characterized by specific failure of adrenocortical glucocorticoid glucocorticoid deficiency with combined production in response to adrenocorticotropic hormone (ACTH). mineralocorticoid insufficiency and extra Mutations of the NNT (nicotinamide nucleotide transhydrogenase) adrenal manifestations. gene have recently been implicated in familial glucocorticoid deficiency. RESULTS Suffering from a febrile viral respiratory Diagnosis : during At one month At six months disease, an eight-month-old boy presented hypoglycémia and with status epilepticus caused by severe hypotension hypoglycemia. Multiple medical complications occurred, and invasive ventilation was Natremia (mmol/L) 135 126 136 required for 18 days. The results of blood tests performed during hypoglycemia revealed ACTH (ng/L) 1382 >2000 >2000 adrenal insufficiency. Renin and aldosterone Cortisol (nmol/L) <20 - <20 levels were high but considered consistent Renin (ng/L) 2880 278 177 with the mild hyponatremia and severe hypotension. Subsequent measurements Aldosterone (pmol/L) - 179 72 -
NNT Mutations: a Cause of Primary Adrenal Insufficiency, Oxidative Stress and Extra- Adrenal Defects
175:1 F Roucher-Boulez and others NNT, adrenal and extra-adrenal 175:1 73–84 Clinical Study defects NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra- adrenal defects Florence Roucher-Boulez1,2, Delphine Mallet-Motak1, Dinane Samara-Boustani3, Houweyda Jilani1, Asmahane Ladjouze4, Pierre-François Souchon5, Dominique Simon6, Sylvie Nivot7, Claudine Heinrichs8, Maryline Ronze9, Xavier Bertagna10, Laure Groisne11, Bruno Leheup12, Catherine Naud-Saudreau13, Gilles Blondin13, Christine Lefevre14, Laetitia Lemarchand15 and Yves Morel1,2 1Molecular Endocrinology and Rare Diseases, Lyon University Hospital, Bron, France, 2Claude Bernard Lyon 1 University, Lyon, France, 3Pediatric Endocrinology, Gynecology and Diabetology, Necker University Hospital, Paris, France, 4Pediatric Department, Bab El Oued University Hospital, Alger, Algeria, 5Pediatric Endocrinology and Diabetology, American Memorial Hospital, Reims, France, 6Pediatric Endocrinology, Robert Debré Hospital, Paris, France, 7Department of Pediatrics, Rennes Teaching Hospital, Rennes, France, 8Pediatric Endocrinology, Queen Fabiola Children’s University Hospital, Brussels, Belgium, 9Endocrinology Department, L.-Hussel Hospital, Vienne, France, 10Endocrinology Department, Cochin University Hospital, Paris, France, 11Endocrinology Department, Lyon University Hospital, Bron-Lyon, France, 12Paediatric and Clinical Genetic Department, Correspondence Nancy University Hospital, Vandoeuvre les Nancy, France, 13Pediatric Endocrinology and Diabetology, should be -
UC Irvine UC Irvine Previously Published Works
UC Irvine UC Irvine Previously Published Works Title The C57BL/6J Mouse Strain Background Modifies the Effect of a Mutation in Bcl2l2 Permalink https://escholarship.org/uc/item/5152r99k Journal G3-Genes|Genomes|Genetics, 2(1) ISSN 2160-1836 Authors Navarro, S. J Trinh, T. Lucas, C. A et al. Publication Date 2012-01-06 DOI 10.1534/g3.111.000778 License https://creativecommons.org/licenses/by/4.0/ 4.0 Peer reviewed eScholarship.org Powered by the California Digital Library University of California INVESTIGATION The C57BL/6J Mouse Strain Background Modifies the Effect of a Mutation in Bcl2l2 Stefanie J. Navarro, Tuyen Trinh, Charlotte A. Lucas, Andrea J. Ross, Katrina G. Waymire, and Grant R. MacGregor1 Department of Developmental and Cell Biology, School of Biological Sciences, and Center for Molecular and Mitochondrial Medicine and Genetics, University of California Irvine, Irvine, California 92697-2300 ABSTRACT Bcl2l2 encodes BCL-W, an antiapoptotic member of the BCL-2 family of proteins. Intercross of KEYWORDS Bcl2l2 +/2 mice on a mixed C57BL/6J, 129S5 background produces Bcl2l2 2/2 animals with the expected –Nnt frequency. In contrast, intercross of Bcl2l2 +/2 mice on a congenic C57BL/6J background produces rela- mutation, genetic tively few live-born Bcl2l2 2/2 animals. Genetic modifiers alter the effect of a mutation. C57BL/6J mice modifier, BCL-W, (Mus musculus) have a mutant allele of nicotinamide nucleotide transhydrogenase (Nnt) that can act as apoptosis a modifier. Loss of NNT decreases the concentration of reduced nicotinamide adenine dinucleotide phos- phate within the mitochondrial matrix. Nicotinamide adenine dinucleotide phosphate is a cofactor for glutathione reductase, which regenerates reduced glutathione, an important antioxidant. -
NNT Is a Key Regulator of Adrenal Redox Homeostasis and Steroidogenesis in Male Mice
236 1 Journal of E Meimaridou et al. NNT is key for adrenal redox 236:1 13–28 Endocrinology and steroid control RESEARCH NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice E Meimaridou1,*, M Goldsworthy2, V Chortis3,4, E Fragouli1, P A Foster3,4, W Arlt3,4, R Cox2 and L A Metherell1 1Centre for Endocrinology, William Harvey Research Institute, John Vane Science Centre, Queen Mary, University of London, London, UK 2MRC Harwell Institute, Genetics of Type 2 Diabetes, Mammalian Genetics Unit, Oxfordshire, UK 3Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK 4Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK *(E Meimaridou is now at School of Human Sciences, London Metropolitan University, London, UK) Correspondence should be addressed to E Meimaridou: [email protected] Abstract Nicotinamide nucleotide transhydrogenase, NNT, is a ubiquitous protein of the Key Words inner mitochondrial membrane with a key role in mitochondrial redox balance. NNT f RNA sequencing produces high concentrations of NADPH for detoxification of reactive oxygen species f nicotinamide nucleotide by glutathione and thioredoxin pathways. In humans, NNT dysfunction leads to an transhydrogenase adrenal-specific disorder, glucocorticoid deficiency. Certain substrains of C57BL/6 mice f redox homeostasis contain a spontaneously occurring inactivating Nnt mutation and display glucocorticoid f steroidogenesis Endocrinology deficiency along with glucose intolerance and reduced insulin secretion. To understand f ROS scavengers of the underlying mechanism(s) behind the glucocorticoid deficiency, we performed comprehensive RNA-seq on adrenals from wild-type (C57BL/6N), mutant (C57BL/6J) Journal and BAC transgenic mice overexpressing Nnt (C57BL/6JBAC). -
NADPH Homeostasis in Cancer: Functions, Mechanisms and Therapeutic Implications
Signal Transduction and Targeted Therapy www.nature.com/sigtrans REVIEW ARTICLE OPEN NADPH homeostasis in cancer: functions, mechanisms and therapeutic implications Huai-Qiang Ju 1,2, Jin-Fei Lin1, Tian Tian1, Dan Xie 1 and Rui-Hua Xu 1,2 Nicotinamide adenine dinucleotide phosphate (NADPH) is an essential electron donor in all organisms, and provides the reducing power for anabolic reactions and redox balance. NADPH homeostasis is regulated by varied signaling pathways and several metabolic enzymes that undergo adaptive alteration in cancer cells. The metabolic reprogramming of NADPH renders cancer cells both highly dependent on this metabolic network for antioxidant capacity and more susceptible to oxidative stress. Modulating the unique NADPH homeostasis of cancer cells might be an effective strategy to eliminate these cells. In this review, we summarize the current existing literatures on NADPH homeostasis, including its biological functions, regulatory mechanisms and the corresponding therapeutic interventions in human cancers, providing insights into therapeutic implications of targeting NADPH metabolism and the associated mechanism for cancer therapy. Signal Transduction and Targeted Therapy (2020) 5:231; https://doi.org/10.1038/s41392-020-00326-0 1234567890();,: BACKGROUND for biosynthetic reactions to sustain their rapid growth.5,11 This In cancer cells, the appropriate levels of intracellular reactive realization has prompted molecular studies of NADPH metabolism oxygen species (ROS) are essential for signal transduction and and its exploitation for the development of anticancer agents. cellular processes.1,2 However, the overproduction of ROS can Recent advances have revealed that therapeutic modulation induce cytotoxicity and lead to DNA damage and cell apoptosis.3 based on NADPH metabolism has been widely viewed as a novel To prevent excessive oxidative stress and maintain favorable and effective anticancer strategy. -
Sepnetplacements201314213.Pdf
SEPnet Summer Placement Opportunities 2013 1 Dear SEPnet Student I am delighted to be able to present the opportunities available for SEPnet funded work placements in 2013. There are 35 industry placements and 12 research placements in total. Please read through the list of projects carefully – they offer a great opportunity for you to gain valuable work experience this summer. Details about the scheme are set out in the FAQs section below. Please make a note of the deadline dates, in particular, the application deadline of FRIDAY 29 MARCH. If you have any questions you can contact me on my email address below. I wish you all the best with your applications! Veronica Veronica Benson Keep up-to-date with SEPnet Director of Employer Liaison www.facebook.com/SEPnet South-East Physics Network Twitter @SEPhysics [email protected] www.sepnet.ac.uk FAQs How much will I get paid? Successful candidates will receive a bursary of £1,360 which is for eight weeks work in the summer holidays. How does the scheme work? 1. You need to register your details before you start applying. Go to the following page on our website and click on the link called Student Registration Form at: http://www.sepnet.ac.uk/employer_services/summer_internships/information_students.html NB: You will not be able to take up a placement if you have not registered here first. 2. Read the project descriptions in this booklet carefully. We recommend you apply for more than one placement and you may wish to apply for several but remember to target your applications to the projects that really interest you and check the location of the placement to make sure you can get there! 3. -
Downloaded from Bioscientifica.Com at 09/30/2021 09:04:02PM Via Free Access
177:2 AUTHOR COPY ONLY N Amano and others Pediatric-onset adrenal 177:2 187–194 Clinical Study insufficiency Genetic defects in pediatric-onset adrenal insufficiency in Japan Naoko Amano1,2, Satoshi Narumi1,3, Mie Hayashi1, Masaki Takagi1,4, Kazuhide Imai5, Toshiro Nakamura6, Rumi Hachiya1,4, Goro Sasaki1,7, Keiko Homma8, Tomohiro Ishii1 and Tomonobu Hasegawa1 1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 2Department of Pediatrics, Tokyo Saiseikai Central Hospital, Tokyo, Japan, 3Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, 4Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan, 5Department of Pediatrics, Nishibeppu National Hospital, Oita, Japan, Correspondence 6Department of Pediatrics, Kumamoto Chuo Hospital, Kumamoto, Japan, 7Department of Pediatrics, should be addressed Tokyo Dental College Ichikawa General Hospital, Chiba, Japan, and 8Clinical Laboratory, to T Hasegawa Keio University Hospital, Tokyo, Japan Email [email protected] Abstract Context: Most patients with pediatric-onset primary adrenal insufficiency (PAI), such as 21-hydroxylase deficiency, can be diagnosed by measuring the urine or serum levels of steroid metabolites. However, the etiology is often difficult to determine in a subset of patients lacking characteristic biochemical findings. Objective: To assess the frequency of genetic defects in Japanese children with biochemically uncharacterized PAI and characterize the phenotypes of mutation-carrying patients. Methods: We enrolled 63 Japanese children (59 families) with biochemically uncharacterized PAI, and sequenced 12 PAI-associated genes. The pathogenicities of rare variants were assessed based on in silico analyses and structural modeling. We calculated the proportion of mutation-carrying patients according to demographic characteristics. -
The Social Structure, Ecology and Pathogens of Bats in the UK
The Social Structure, Ecology and Pathogens of Bats in the UK Submitted by Thomas Adam August to the University of Exeter as a thesis for the degree of Doctor of Philosophy in Biological Sciences In September 2012 This thesis is available for library use on the understanding that it is copyright material and that no quotation from the thesis may be published without proper acknowledgement. I certify that all material in this thesis which is not my own work has been identified and that no material has previously been submitted and approved for the award of a degree by this or any other university. Signature: ………………………………………………………….. 1 2 Dedicated to the memory of Charles William Stewart Hartley 3 4 Abstract This thesis examines the ecology, parasites and pathogens of three insectivorous bat species in Wytham Woods, Oxfordshire; Myotis nattereri (Natterer’s bat), M. daubentonii (Daubenton’s bat) and Plecotus auritus (Brown long-eared bat). The population structure was assessed by monitoring associations between ringed individuals, utilising recent advances in social network analysis. Populations of both M. daubentonii and M. nattereri were found to subdivide into tight-knit social groups roosting within small areas of a continuous woodland (average minimum roost home range of 0.23km2 and 0.17km2 respectively). If this population structure is a general attribute of these species it may make them more sensitive to small scale habitat change than previously thought and has implications for how diseases may spread through the population. M. daubentonii had a strong preference for roosts close to water, away from woodland edge and in areas with an easterly aspect. -
Download Original Attachment
Doctor of Philosophy Charles Nyaigoti Agoti For a thesis entitled Genetic Diversity of Respiratory Syncytial Virus Strains in Relation to Infection and Re-Infection Sponsoring Establishment KEMRI - Wellcome Trust Research Programme, Kenya Pierre Akiki For a thesis entitled Engineering Adaptive User Interfaces for Enterprise Applications Amelina Andrea Albornoz For a thesis entitled The Role of TIA-1 as a Cellular Restriction Factor for Tick-Borne Encephalitis Virus Infection Sponsoring Establishment International Centre for Genetic Engineering and Biotechnology Margaret Elizabeth Andrews For a thesis entitled Lateritic Palaeosols of N E Africa: A Remote Sensing Study Vassileios Angelis For a thesis entitled Testing and Analysis of a Computational Model of Human Rhythm Perception Helen Arfvidsson For a thesis entitled On Burning Cars, Concrete and Citizenship Philip Ashton For a thesis entitled A Genomic and Proteomic Approach to Investigate the Clostridium botulinum Toxin Complex Sponsoring Establishment Professional Development Foundation Sophie Bailes For a thesis entitled Retention Mechanism for the Reversed Phase and Hydrophilic Interaction Liquid Chromatography Sophie Philippa Bankes For a thesis entitled James Lackington (1746-1815) and Reading in the Late Eighteenth Century Imran Bashir For a thesis entitled Acoustical Exploitation of Rough, Mixed Impedance and Porous Surface Outdoors Swaraj Basu For a thesis entitled Conservation and Synteny of Long Non-Coding RNAs in Vertebrate Genomes and their Identification in Novel Transcriptomes -
Nicotinamide Adenine Dinucleotide Homeostasis and Signalling in Heart Disease: Pathophysiological Implications and Therapeutic Potential Mathias Mericskay
Nicotinamide adenine dinucleotide homeostasis and signalling in heart disease: Pathophysiological implications and therapeutic potential Mathias Mericskay To cite this version: Mathias Mericskay. Nicotinamide adenine dinucleotide homeostasis and signalling in heart disease: Pathophysiological implications and therapeutic potential. Archives of cardiovascular diseases, El- sevier/French Society of Cardiology, 2016, 109 (3), pp.207-215. 10.1016/j.acvd.2015.10.004. hal- 01311700 HAL Id: hal-01311700 https://hal.sorbonne-universite.fr/hal-01311700 Submitted on 4 May 2016 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Manuscript Click here to download Manuscript: Revised Mericskay-ACVDreview.docx NAD homeostasis and signaling in heart disease Mathias Mericskay English Title Nicotinamide adenine dinucleotide homeostasis and signaling in heart disease: pathophysiological meaning and therapeutic potential Abbreviated title: NAD homeostasis and signaling in heart disease Titre français Homéostasie et signalisation du nicotinamide adénine dinucléotide dans