(12) Patent Application Publication (10) Pub. No.: US 2015/0284724 A1 COLLARD Et Al
Total Page：16
File Type：pdf, Size：1020Kb
Load more
Recommended publications
-
Genetic Determinants Underlying Rare Diseases Identified Using Next-Generation Sequencing Technologies
Western University Scholarship@Western Electronic Thesis and Dissertation Repository 8-2-2018 1:30 PM Genetic determinants underlying rare diseases identified using next-generation sequencing technologies Rosettia Ho The University of Western Ontario Supervisor Hegele, Robert A. The University of Western Ontario Graduate Program in Biochemistry A thesis submitted in partial fulfillment of the equirr ements for the degree in Master of Science © Rosettia Ho 2018 Follow this and additional works at: https://ir.lib.uwo.ca/etd Part of the Medical Genetics Commons Recommended Citation Ho, Rosettia, "Genetic determinants underlying rare diseases identified using next-generation sequencing technologies" (2018). Electronic Thesis and Dissertation Repository. 5497. https://ir.lib.uwo.ca/etd/5497 This Dissertation/Thesis is brought to you for free and open access by Scholarship@Western. It has been accepted for inclusion in Electronic Thesis and Dissertation Repository by an authorized administrator of Scholarship@Western. For more information, please contact [email protected]. Abstract Rare disorders affect less than one in 2000 individuals, placing a huge burden on individuals, families and the health care system. Gene discovery is the starting point in understanding the molecular mechanisms underlying these diseases. The advent of next- generation sequencing has accelerated discovery of disease-causing genetic variants and is showing numerous benefits for research and medicine. I describe the application of next-generation sequencing, namely LipidSeq™ ‒ a targeted resequencing panel for the identification of dyslipidemia-associated variants ‒ and whole-exome sequencing, to identify genetic determinants of several rare diseases. Utilization of next-generation sequencing plus associated bioinformatics led to the discovery of disease-associated variants for 71 patients with lipodystrophy, two with early-onset obesity, and families with brachydactyly, cerebral atrophy, microcephaly-ichthyosis, and widow’s peak syndrome. -
Selection Signatures in Two Oldest Russian Native Cattle Breeds Revealed Using High- Density Single Nucleotide Polymorphism Analysis
PLOS ONE RESEARCH ARTICLE Selection signatures in two oldest Russian native cattle breeds revealed using high- density single nucleotide polymorphism analysis Natalia Anatolievna Zinovieva1*, Arsen Vladimirovich Dotsev1, Alexander Alexandrovich Sermyagin1, Tatiana Evgenievna Deniskova1, Alexandra 1 1 2 Sergeevna Abdelmanova , Veronika Ruslanovna KharzinovaID , Johann SoÈ lkner , a1111111111 Henry Reyer3, Klaus Wimmers3, Gottfried Brem1,4 a1111111111 a1111111111 1 L.K. Ernst Federal Science Center for Animal Husbandry, Federal Agency of Scientific Organizations, settl. Dubrovitzy, Podolsk Region, Moscow Province, Russia, 2 Division of Livestock Sciences, University of a1111111111 Natural Resources and Life Sciences, Vienna, Austria, 3 Institute of Genome Biology, Leibniz Institute for a1111111111 Farm Animal Biology [FBN], Dummerstorf, Germany, 4 Institute of Animal Breeding and Genetics, University of Veterinary Medicine [VMU], Vienna, Austria * [email protected] OPEN ACCESS Citation: Zinovieva NA, Dotsev AV, Sermyagin AA, Abstract Deniskova TE, Abdelmanova AS, Kharzinova VR, et al. (2020) Selection signatures in two oldest Native cattle breeds can carry specific signatures of selection reflecting their adaptation to Russian native cattle breeds revealed using high- the local environmental conditions and response to the breeding strategy used. In this density single nucleotide polymorphism analysis. study, we comprehensively analysed high-density single nucleotide polymorphism (SNP) PLoS ONE 15(11): e0242200. https://doi.org/ genotypes -
A Review of the Recent Advances Made with SIRT6 and Its Implications on Aging Related Processes, Major Human Diseases, and Possible Therapeutic Targets
biomolecules Review A Review of the Recent Advances Made with SIRT6 and its Implications on Aging Related Processes, Major Human Diseases, and Possible Therapeutic Targets Rubayat Islam Khan †, Saif Shahriar Rahman Nirzhor † and Raushanara Akter * Department of Pharmacy, BRAC University, 1212 Dhaka, Bangladesh; [email protected] (R.I.K.); [email protected] (S.S.R.N.) * Correspondence: [email protected]; Tel.: +880-179-8321-273 † These authors contributed equally to this work. Received: 10 June 2018; Accepted: 26 June 2018; Published: 29 June 2018 Abstract: Sirtuin 6 (SIRT6) is a nicotinamide adenine dinucleotide+ (NAD+) dependent enzyme and stress response protein that has sparked the curiosity of many researchers in different branches of the biomedical sciences. A unique member of the known Sirtuin family, SIRT6 has several different functions in multiple different molecular pathways related to DNA repair, glycolysis, gluconeogenesis, tumorigenesis, neurodegeneration, cardiac hypertrophic responses, and more. Only in recent times, however, did the potential usefulness of SIRT6 come to light as we learned more about its biochemical activity, regulation, biological roles, and structure Frye (2000). Even until very recently, SIRT6 was known more for chromatin signaling but, being a nascent topic of study, more information has been ascertained and its potential involvement in major human diseases including diabetes, cancer, neurodegenerative diseases, and heart disease. It is pivotal to explore the mechanistic workings -
An Examination of Oxysterol Effects on Membrane Bilayers Using Molecular Dynamics Simulations Brett Olsen Washington University in St
Washington University in St. Louis Washington University Open Scholarship All Theses and Dissertations (ETDs) January 2010 An Examination of Oxysterol Effects on Membrane Bilayers Using Molecular Dynamics Simulations Brett Olsen Washington University in St. Louis Follow this and additional works at: https://openscholarship.wustl.edu/etd Recommended Citation Olsen, Brett, "An Examination of Oxysterol Effects on Membrane Bilayers Using Molecular Dynamics Simulations" (2010). All Theses and Dissertations (ETDs). 420. https://openscholarship.wustl.edu/etd/420 This Dissertation is brought to you for free and open access by Washington University Open Scholarship. It has been accepted for inclusion in All Theses and Dissertations (ETDs) by an authorized administrator of Washington University Open Scholarship. For more information, please contact [email protected]. Washington University in Saint Louis Division of Biology and Biological Sciences Program in Molecular and Cellular Biology Dissertation Examination Committee: Nathan Baker, Chair Douglas Covey Katherine Henzler-Wildman Garland Marshall Daniel Ory Paul Schlesinger An Examination of Oxysterol Effects on Membrane Bilayers Using Molecular Dynamics Simulations by Brett Neil Olsen A dissertation presented to the Graduate School of Arts and Sciences of Washington University in partial fulfillment of the requirements for the degree of Doctor of Philosophy August 2010 Saint Louis, Missouri Acknowledgments I would like to thank my doctoral adviser Nathan Baker, whose guidance and advice has been essential to my development as an independent researcher, and whose confidence in my abilities has often surpassed my own. Thanks to my experimental collaborators at Washington University: Paul Schlesinger, Daniel Ory, and Doug Covey, without whom this work never would have been begun. -
C1orf32 Fused to the Fc Fragment for the Treatment of Multiple Sclerosis, Rheumatoid Arthritis and Other Autoimmune Disorders
(19) TZZ¥ Z _ T (11) EP 3 202 415 A2 (12) EUROPEAN PATENT APPLICATION (43) Date of publication: (51) Int Cl.: 09.08.2017 Bulletin 2017/32 A61K 38/17 (2006.01) A61P 25/28 (2006.01) (21) Application number: 17161149.4 (22) Date of filing: 30.06.2011 (84) Designated Contracting States: • ROTMAN, Galit AL AT BE BG CH CY CZ DE DK EE ES FI FR GB 46725 Herzliya (IL) GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO • LEVINE, Zurit PL PT RO RS SE SI SK SM TR 46725 Herzliya (IL) • MILLER, Stephen D. (30) Priority: 30.06.2010 US 360011 P Chicago, IL Illinois 60611 (US) • PODOJIL, Joseph R. (62) Document number(s) of the earlier application(s) in Chicago, IL Illinois 60611 (US) accordance with Art. 76 EPC: 11748719.9 / 2 588 123 (74) Representative: Fuchs Patentanwälte Partnerschaft mbB (71) Applicant: Compugen Ltd. Westhafenplatz 1 5885849 Holon (IL) 60327 Frankfurt am Main (DE) (72) Inventors: Remarks: • HECHT, Iris This application was filed on 15-03-2017 as a Tel Aviv (IL) divisional application to the application mentioned under INID code 62. (54) C1ORF32 FUSED TO THE FC FRAGMENT FOR THE TREATMENT OF MULTIPLE SCLEROSIS, RHEUMATOID ARTHRITIS AND OTHER AUTOIMMUNE DISORDERS (57) This invention relates to a protein C1ORF32 and development, including but not limited to as immune its variants and fragments and fusion proteins thereof, modulatorsand for immunetherapy, including for autoim- and methods of use therof for immunotherapy, and drug mune disorders. EP 3 202 415 A2 Printed by Jouve, 75001 PARIS (FR) EP 3 202 415 A2 Description FIELD OF THE INVENTION 5 [0001] This invention relates to a novel protein, and its variants, fragments and fusion proteins thereof, and methods of use therof for immunotherapy, and drug development. -
A Comparison of the Potential Unfavorable Effects Of
Biosci. Biotechnol. Biochem., 72 (12), 3128–3133, 2008 A Comparison of the Potential Unfavorable Effects of Oxycholesterol and Oxyphytosterol in Mice: Different Effects, on Cerebral 24S-Hydroxychoelsterol and Serum Triacylglycerols Levels y Hyun-jung BANG, Chiyo ARAKAWA, Michihiro TAKADA, Masao SATO, and Katsumi IMAIZUMI Laboratory of Nutrition Chemistry, Division of Bioresource and Bioenvironmental Sciences, Graduate School, Kyushu University, Fukuoka 812-8581, Japan Received April 16, 2008; Accepted August 9, 2008; Online Publication, December 7, 2008 [doi:10.1271/bbb.80256] Sterol oxidation products derived from cholesterol Our previous study indicated that oxidation products and phytosterol are formed during the processing and derived from cholesterol and plant sterols accumulated storage of foods. The objective of the present study was to a considerable extent in the tissues of apolipopro- to assess the potential unfavorable effects of oxysterols tein E deficient mice, but the atherosclerotic severity in in mice. C57BL/6J mice were fed an AIN-93G-based the aortic value of the mice fed the oxysterols was not diet containing 0.2 g/kg of oxycholesterol or oxyphyto- different from that in the oxysterol-free group.7,8) Our sterol for 4 weeks. The most abundant oxysterol in the findings are different from those showing a role of diet was 7-ketosterol, but -epoxycholesterol, -epox- dietary oxycholesterols in the development of athero- ycholesterol, or 7 -hydroxyphytosterol, and 7 -hydro- sclerosis in experimental animals.10,11) Very few data xyphytosterol were more prominent than 7-ketosterol in except those from Tomoyori et al.8) are available on the the serum and liver respectively. -
Cell Migration: How Neutrophils Set Their Compass
RESEARCH HIGHLIGHTS IN BRIEF CELL MIGRATION How neutrophils set their compass Sustained directionality is an essential component of successful chemotaxis. Here, the authors show that the G protein Gαi and the mammalian homologue of the Drosophila melanogaster polarity protein Inscuteable (known as MINSC) are important for the maintenance of polarity and directionality during neutrophil chemotaxis. They observed that Gαi (which is released from Gβγ following ligand binding) accumulates at the leading edge of the cell. Gαi interacts directly with AGS3 or LGN, which themselves are bound to MINSC, recruiting it to this part of the cell. Moreover, MINSC is bound to the polarity complex PAR3–PAR6– aPKC, and this interaction targets the complex to the leading edge, thus establishing polarity. Notably, MINSC-deficient neutrophils, or neutrophils in which aPKC was blocked, showed normal motility but lacked directionality in their chemotaxis. ORIGINAL RESEARCH PAPER Kamakura, S. et al. The cell polarity protein mInsc regulates neutrophil chemotaxis via a noncanonical G protein signaling pathway. Dev. Cell http://dx.doi.org/10.1016/j.devcel.2013.06.008 (2013) DNA DAMAGE Facilitating repair The repair of DNA double-strand breaks (DSBs) can be hindered by the inability of repair factors to access damage sites in the tightly packaged chromatin. This study identifies a key role for the deacetylase sirtuin 6 (SIRT6) in facilitating chromatin relaxation and promoting repair. Toiber et al. observed that SIRT6 is rapidly recruited to DSBs, with much faster kinetics than previously reported. SIRT6 was shown to target the chromatin remodelling factor SNF2H to these sites and accelerate its association with them, as well as to deacetylate histone 3 at Lys56 (H3K56), which was required for SNF2H-mediated chromatin relaxation. -
Deleterious Effects of Food Habits in Present Era Aliya Siddiqui1*And Naga Anusha P2 1Department of Biotechnology, Chaitanya P.G
erg All y & of T l h a e n r r a Siddiqui and Anusha. J Aller Ther 2012, 3:1 p u y o J Journal of Allergy & Therapy DOI: 10.4172/2155-6121.1000114 ISSN: 2155-6121 Review Article Open Access Deleterious Effects of Food Habits in Present Era Aliya Siddiqui1*and Naga Anusha P2 1Department of Biotechnology, Chaitanya P.G. College, Kakatiya University, India 2 Department of Biotechnology, Sri Y.N. College, Andhra University, India Abstract Food is any substance usually of plant or animal origin consumed to provide nutritional support for the body. It contains essential nutrients, such as carbohydrates, fats, proteins, vitamins, or minerals etc. Consuming healthy food like fresh fruits and vegetables gives the body strength and power to stay healthy without any infections and diseases. In spite of knowing the value of healthy food, most of the people prefer fast food which affects their health and lives. This Review Article deals with the Food and its Impact on Human Health, what are the side effects when food is taken in excess amounts and what might happens when it is not supplied to the body in enough quantities, what could be the problems which most of the people face if fast food or junk food is consumed in large or excess quantities. As fast food culture is an emerging trend among the younger generation and most of them may suffer with food allergies and various health problems when consumed on a regular basis. Fast food has become a prominent feature of the diet for most of the people in United States and increasing, throughout the world. -
Method Development for Valid High-Resolution Profiling Of
Method development for valid high‐resolution profiling of mitochondria and Omics investigation of mitochondrial adaptions to excess energy intake and physical exercise Dissertation der Mathematisch‐Naturwissenschaftlichen Fakultät der Eberhard Karls Universität Tübingen zur Erlangung des Grades eines Doktors der Naturwissenschaften (Dr. rer. nat.) vorgelegt von Lisa Claudia Charlotte Kappler aus Weingarten Tübingen 2018 Gedruckt mit Genehmigung der Mathematisch‐Naturwissenschaftlichen Fakultät der Eberhard Karls Universität Tübingen. Tag der mündlichen Qualifikation: 27.03.2018 Dekan: Prof. Dr. Wolfgang Rosenstiel 1. Berichterstatterin: Prof. Dr. Carolin Huhn 2. Berichterstatter: Prof. Dr. Rainer Lehmann Over the long term, symbiosis is more useful than parasitism. More fun, too. Ask any mitochondria. ‐Larry Wall‐ Scopes and aims of the thesis Index 1 SCOPES AND AIMS OF THE THESIS .............................................................................. 1 2 INTRODUCTION ................................................................................................................. 2 2.1 Insulin resistance and type 2 diabetes ................................................................................................. 2 2.1.1 Diet and physical activity ...................................................................................................................... 3 2.2 Mitochondria, structure and function ................................................................................................. 3 2.2.1 Function of -
Dear Author, Here Are the Proofs of Your Article. • You Can Submit Your
Dear Author, Here are the proofs of your article. • You can submit your corrections online, via e-mail or by fax. • For online submission please insert your corrections in the online correction form. Always indicate the line number to which the correction refers. • You can also insert your corrections in the proof PDF and email the annotated PDF. • For fax submission, please ensure that your corrections are clearly legible. Use a fine black pen and write the correction in the margin, not too close to the edge of the page. • Remember to note the journal title, article number, and your name when sending your response via e-mail or fax. • Check the metadata sheet to make sure that the header information, especially author names and the corresponding affiliations are correctly shown. • Check the questions that may have arisen during copy editing and insert your answers/ corrections. • Check that the text is complete and that all figures, tables and their legends are included. Also check the accuracy of special characters, equations, and electronic supplementary material if applicable. If necessary refer to the Edited manuscript. • The publication of inaccurate data such as dosages and units can have serious consequences. Please take particular care that all such details are correct. • Please do not make changes that involve only matters of style. We have generally introduced forms that follow the journal’s style. Substantial changes in content, e.g., new results, corrected values, title and authorship are not allowed without the approval of the responsible editor. In such a case, please contact the Editorial Office and return his/her consent together with the proof. -
The Role of Antioxidants Supplementation in Clinical Practice: Focus on Cardiovascular Risk Factors
antioxidants Review The Role of Antioxidants Supplementation in Clinical Practice: Focus on Cardiovascular Risk Factors Vittoria Cammisotto 1,* , Cristina Nocella 2,*, Simona Bartimoccia 2, Valerio Sanguigni 3,4 , Davide Francomano 3, Sebastiano Sciarretta 5,6, Daniele Pastori 2 , Mariangela Peruzzi 5,7, Elena Cavarretta 5,7 , Alessandra D’Amico 8, Valentina Castellani 2, Giacomo Frati 5,6 , Roberto Carnevale 5,7,* and SMiLe Group 9,† 1 Department of General Surgery and Surgical Specialty Paride Stefanini, Sapienza University of Rome, 00185 Rome, Italy 2 Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, 00185 Rome, Italy; [email protected] (S.B.); [email protected] (D.P.); [email protected] (V.C.) 3 Unit of Internal Medicine and Endocrinology, Madonna delle Grazie Hospital, Velletri, 00049 Rome, Italy; [email protected] (V.S.); [email protected] (D.F.) 4 Department of Internal Medicine, University of Rome “Tor Vergata”, 00133 Rome, Italy 5 Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, 04100 Latina, Italy; [email protected] (S.S.); [email protected] (M.P.); [email protected] (E.C.); [email protected] (G.F.) 6 Department of AngioCardioNeurology, IRCCS Neuromed, 86077 Pozzilli, Italy 7 Mediterranea, Cardiocentro, 80122 Napoli, Italy 8 Department of Movement, Human and Health Sciences, University of Rome “Foro Italico”, 00135 Rome, Italy; [email protected] 9 Faculty of Medicine and Surgery, Sapienza University of Rome, 04100 Latina, Italy; [email protected] * Correspondence: [email protected] (V.C.); [email protected] (C.N.); Citation: Cammisotto, V.; Nocella, [email protected] (R.C.) C.; Bartimoccia, S.; Sanguigni, V.; † Membership of the SMiLe Group is provided in the Acknowledgments. -
British Chemical Abstracts
BRITISH CHEMICAL ABSTRACTS A.-PURE CHEMISTRY MARCH, 1934. General, Physical, and Inorganic Chemistry. Theory of hyperfine structures. E. Fermi and Infra-red grating spectra and spectral series E. SEGRi: (Mem. R. Accad. d’ltalia Sci. fis., 1933, 4, (A1II, A11, He I and n, Zn I and II). F. Paschen 131—158).—A theoretical discussion of the hyperfine and R. Ritsciil (Ann. Physik, 1933, [v], 18 , 867— structure of the spectral lines of Li, Na, Cu, Ga, lib, 892).—A comprehensive analysis of the grating spec Cd, In, Cs, Ba, Au, Hg, Tl, Pb, and Bi. The theory trum of A in is made. With a specially luminous of the nuclear magnetic moment is discussed. hollow cathode arrangement new infra-red lines 0. J. W. beyond 1 ¡j. are tabulated and an extended analysis is Spectrum of atomic nitrogen, N I. D. Seeerian given for A11, He i and it, Zn i and rr. W. R. A. (Compt. rend., 1934, 198, 68—69).—An arc is struck Arc spectrum of silicon in the red and infra between parallel W wires 3 mm. diam. and 2—3 mm. red. C. C. Kiess (Bur. Stand. J. Res., 1933, 11, apart, N2 at the rate of 800—1000 litres per hr. being 775—782).—130 new lines have been measured in the passed around them. With a.c. of 46—50 amp. at arc spectrum of Si between 6125 and 11,290 A . These 110 volts the spectrum of N i is obtained (cf. A., 1929, include the strongest previously unidentified Fraun 1116; 1932, 103), and also two different continuous hofer line (6155 A.) and other solar spectral lines.