Factor VII Deficiency and Developmental Abnormalities in A
Total Page:16
File Type:pdf, Size:1020Kb

Load more
Recommended publications
-
Chemical Composition and Pharmacological Mechanism of Ephedra- Glycyrrhiza Drug Pair Against Coronavirus Disease 2019 (COVID-19)
www.aging-us.com AGING 2021, Vol. 13, No. 4 Research Paper Chemical composition and pharmacological mechanism of ephedra- glycyrrhiza drug pair against coronavirus disease 2019 (COVID-19) Xiaoling Li1,*, Qin Qiu2,*, Mingyue Li3,*, Haowen Lin4, Shilin Cao5,6, Qu Wang4, Zishi Chen5, Wenhao Jiang5, Wen Zhang7, Yuge Huang8, Hui Luo9, Lianxiang Luo9,10 1Animal Experiment Center of Guangdong Medical University, Zhanjiang 524023, Guangdong, China 2Graduate School of Guangdong Medical University, Zhanjiang 524023, Guangdong, China 3Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA 4The First Clinical College of Guangdong Medical University, Zhanjiang 524023, Guangdong, China 5Group of Sustainable Biochemical Engineering, School of Food Science and Engineering, Foshan University, Foshan 528000, Guangdong, China 6Sustainable Biochemical and Biosynthetic Engineering Center, Foshan Wu-Yuan Biotechnology Co., Ltd., Guangdong Biomedical Industrial Base, Foshan 528000, Guangdong, China 7Aditegen LLC, Jersey, NJ 07310, USA 8Department of Pediatrics, the Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, Guangdong, China 9The Marine Biomedical Research Institute, Guangdong Medical University, Zhanjiang 524023, Guangdong, China 10Marine Medical Research Institute of Zhanjiang, Zhanjiang 524023, Guangdong, China *Equal contribution Correspondence to: Lianxiang Luo; email: [email protected] Keywords: COVID-19, ephedra, glycyrrhiza, network pharmacology, molecular docking Received: August 26, 2020 Accepted: November 30, 2020 Published: February 13, 2021 Copyright: © 2021 Li et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ABSTRACT Traditional Chinese medicine (TCM) had demonstrated effectiveness in the prevention and control of COVID-19. -
Human Neural Tube Defects: Developmental Biology, Epidemiology, and Genetics
Neurotoxicology and Teratology 27 (2005) 515–524 www.elsevier.com/locate/neutera Review article Human neural tube defects: Developmental biology, epidemiology, and genetics Eric R. Detraita, Timothy M. Georgeb, Heather C. Etcheversa, John R. Gilbertb, Michel Vekemansa, Marcy C. Speerb,* aHoˆpital Necker, Enfants Malades Unite´ INSERM U393, 149, rue de Se`vres, 75743 Paris Cedex 15, France bCenter for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, United States Received 16 December 2004; accepted 17 December 2004 Available online 5 March 2005 Abstract Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both genetic and environmental factors implicated. In this manuscript, we review the evidence for genetic etiology and for environmental influences, and we present current views on the developmental processes involved in human neural tube closure. D 2004 Elsevier Inc. All rights reserved. Keywords: Neural tube defect; Genetics; Teratology Contents 1. Formation of the human neural tube .............................................. 516 2. Single site of neural fold fusion ................................................ 518 3. Relationship of human neural tube closure to mouse neural tube closure . ......................... 518 4. Clues from observational data ................................................. 518 5. Evidence for a genetic factor in human neural tube defects .................................. 519 6. If neural tube defects are genetic, how do they present in families? .............................. 519 7. -
Mutations in ZIC2 in Human Holoprosencephaly: Description of a Novel ZIC2 Specific Phenotype and Comprehensive Analysis of 157 Individuals
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. Benjamin Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy Clegg, Mauricio Delgado, Kenneth Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lars-Erik Wehner, et al. To cite this version: Benjamin Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy Clegg, Mauricio Delgado, et al.. Mu- tations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.. Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (8), pp.513-24. 10.1136/jmg.2009.073049. inserm-00439659 HAL Id: inserm-00439659 https://www.hal.inserm.fr/inserm-00439659 Submitted on 9 Dec 2009 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. Mutations in ZIC2 in Human Holoprosencephaly: Comprehensive Analysis of 153 Individuals and Description of a Novel ZIC2-Specfic Phenotype Benjamin D. Solomon1#, Felicitas Lacbawan1,2#, Sandra Mercier3,4, Nancy J. Clegg5, Mauricio R. Delgado5, Kenneth Rosenbaum6, Christèle Dubourg3, Veronique David3, Ann Haskins Olney7, Lars-Erik Wehner8,9, Ute Hehr8,9, Sherri Bale10, Aimee Paulussen11, Hubert J. Smeets11, Emily Hardisty12, Anna Tylki-Szymanska13, Ewa Pronicka13, Michelle Clemens14, Elizabeth McPherson15, Raoul C.M. -
Nº Ref Uniprot Proteína Péptidos Identificados Por MS/MS 1 P01024
Document downloaded from http://www.elsevier.es, day 26/09/2021. This copy is for personal use. Any transmission of this document by any media or format is strictly prohibited. Nº Ref Uniprot Proteína Péptidos identificados 1 P01024 CO3_HUMAN Complement C3 OS=Homo sapiens GN=C3 PE=1 SV=2 por 162MS/MS 2 P02751 FINC_HUMAN Fibronectin OS=Homo sapiens GN=FN1 PE=1 SV=4 131 3 P01023 A2MG_HUMAN Alpha-2-macroglobulin OS=Homo sapiens GN=A2M PE=1 SV=3 128 4 P0C0L4 CO4A_HUMAN Complement C4-A OS=Homo sapiens GN=C4A PE=1 SV=1 95 5 P04275 VWF_HUMAN von Willebrand factor OS=Homo sapiens GN=VWF PE=1 SV=4 81 6 P02675 FIBB_HUMAN Fibrinogen beta chain OS=Homo sapiens GN=FGB PE=1 SV=2 78 7 P01031 CO5_HUMAN Complement C5 OS=Homo sapiens GN=C5 PE=1 SV=4 66 8 P02768 ALBU_HUMAN Serum albumin OS=Homo sapiens GN=ALB PE=1 SV=2 66 9 P00450 CERU_HUMAN Ceruloplasmin OS=Homo sapiens GN=CP PE=1 SV=1 64 10 P02671 FIBA_HUMAN Fibrinogen alpha chain OS=Homo sapiens GN=FGA PE=1 SV=2 58 11 P08603 CFAH_HUMAN Complement factor H OS=Homo sapiens GN=CFH PE=1 SV=4 56 12 P02787 TRFE_HUMAN Serotransferrin OS=Homo sapiens GN=TF PE=1 SV=3 54 13 P00747 PLMN_HUMAN Plasminogen OS=Homo sapiens GN=PLG PE=1 SV=2 48 14 P02679 FIBG_HUMAN Fibrinogen gamma chain OS=Homo sapiens GN=FGG PE=1 SV=3 47 15 P01871 IGHM_HUMAN Ig mu chain C region OS=Homo sapiens GN=IGHM PE=1 SV=3 41 16 P04003 C4BPA_HUMAN C4b-binding protein alpha chain OS=Homo sapiens GN=C4BPA PE=1 SV=2 37 17 Q9Y6R7 FCGBP_HUMAN IgGFc-binding protein OS=Homo sapiens GN=FCGBP PE=1 SV=3 30 18 O43866 CD5L_HUMAN CD5 antigen-like OS=Homo -
The Roles of MIST1 and RAB26 in Zymogenic (Chief) Cell Differentiation and Subcellular Organization" (2015)
Washington University in St. Louis Washington University Open Scholarship Arts & Sciences Electronic Theses and Dissertations Arts & Sciences Spring 5-15-2015 The Roles of MIST1 and RAB26 in yZ mogenic (Chief) Cell Differentiation and Subcellular Organization Ramon Jin Washington University in St. Louis Follow this and additional works at: https://openscholarship.wustl.edu/art_sci_etds Part of the Biology Commons Recommended Citation Jin, Ramon, "The Roles of MIST1 and RAB26 in Zymogenic (Chief) Cell Differentiation and Subcellular Organization" (2015). Arts & Sciences Electronic Theses and Dissertations. 481. https://openscholarship.wustl.edu/art_sci_etds/481 This Dissertation is brought to you for free and open access by the Arts & Sciences at Washington University Open Scholarship. It has been accepted for inclusion in Arts & Sciences Electronic Theses and Dissertations by an authorized administrator of Washington University Open Scholarship. For more information, please contact [email protected]. WASHINGTON UNIVERSITY IN ST. LOUIS Division of Biology and Biomedical Sciences Molecular Cell Biology Dissertation Examination Committee: Jason C. Mills, Chair Paul H. Taghert, Co-Chair Stuart A. Kornfeld Indira U. Mysorekar Babak Razani Joel D. Schilling The Roles of MIST1 and RAB26 in Zymogenic (Chief) Cell Differentiation and Subcellular Organization by Ramon Jin A dissertation presented to the Graduate School of Arts & Sciences of Washington University in partial fulfillment of the requirements for the degree of Doctor of Philosophy -
Genotype-Phenotype Correlations in Patients with Retinoblastoma And
Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein-Hitpaß, Deniz Kanber, Dietmar R Lohmann, Katrin Ounap, Marc Kaulisch To cite this version: Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein-Hitpaß, Deniz Kanber, et al.. Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion. European Journal of Human Genetics, Nature Publishing Group, 2011, 10.1038/ejhg.2011.58. hal- 00633984 HAL Id: hal-00633984 https://hal.archives-ouvertes.fr/hal-00633984 Submitted on 20 Oct 2011 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. 1 Genotype-phenotype correlations in patients with Retinoblastoma and interstitial 13q deletions 1, *Diana Mitter, 2Reinhard Ullmann, 2Artur Muradyan, 3Ludger Klein-Hitpaß, 1Deniz Kanber, 4Katrin Õunap, 5Marc Kaulisch, 1Dietmar Lohmann 1Institut für Humangenetik, Universitätsklinikum Essen, Germany; 2Max-Planck- Institute of Molecular Genetic, Berlin, Germany; 3Institute for Cell Biology (Tumor Research), University of Duisburg-Essen, Germany; 4Department of Genetics, United Laboratories, Tartu University Hospital, Estonia; 5Institute for Research Information and Quality Assurance, Germany. *Correspondence and present address: Diana Mitter, Institut für Humangenetik, Universitätsklinikum Leipzig, Philipp-Rosenthal-Str. -
The Relationship Between Long-Range Chromatin Occupancy and Polymerization of the Drosophila ETS Family Transcriptional Repressor Yan
INVESTIGATION The Relationship Between Long-Range Chromatin Occupancy and Polymerization of the Drosophila ETS Family Transcriptional Repressor Yan Jemma L. Webber,*,1 Jie Zhang,*,†,1 Lauren Cote,* Pavithra Vivekanand,*,2 Xiaochun Ni,‡,§ Jie Zhou,§ Nicolas Nègre,**,3 Richard W. Carthew,†† Kevin P. White,‡,§,** and Ilaria Rebay*,†,4 *Ben May Department for Cancer Research, †Committee on Cancer Biology, ‡Department of Ecology and Evolution, §Department of Human Genetics, and **Institute for Genomics and Systems Biology, University of Chicago, Chicago, Illinois 60637, and ††Department of Molecular Biosciences, Northwestern University, Evanston, Illinois 60208 ABSTRACT ETS family transcription factors are evolutionarily conserved downstream effectors of Ras/MAPK signaling with critical roles in development and cancer. In Drosophila, the ETS repressor Yan regulates cell proliferation and differentiation in a variety of tissues; however, the mechanisms of Yan-mediated repression are not well understood and only a few direct target genes have been identified. Yan, like its human ortholog TEL1, self-associates through an N-terminal sterile a-motif (SAM), leading to speculation that Yan/TEL1 polymers may spread along chromatin to form large repressive domains. To test this hypothesis, we created a monomeric form of Yan by recombineering a point mutation that blocks SAM-mediated self-association into the yan genomic locus and compared its genome-wide chromatin occupancy profile to that of endogenous wild-type Yan. Consistent with the spreading model predictions, wild-type Yan-bound regions span multiple kilobases. Extended occupancy patterns appear most prominent at genes encoding crucial developmental regulators and signaling molecules and are highly conserved between Drosophila melanogaster and D. virilis, suggest- ing functional relevance. -
13Q- Syndrome 4 14 Kg and at Necropsy a Normal Physical Appear- Ance Was Noted
Arch Dis Child: first published as 10.1136/adc.52.12.972 on 1 December 1977. Downloaded from 972 Short reports References Case report Allen, M., Diamond, L. K., and Howell, D. A. (1960). Anaphylactoid purpura in children (Schonlein-Henoch A girl weighing 1 96 kg was born 3 weeks after term syndrome); review with a follow-up of the renal complica- tions. American Journal of Diseases of Children, 99, in the 37-year-old mother's tenth pregnancy. Apart 833-854. from unstable lie resulting in breech delivery, Cream, J. J., Gumpell, J. M., and Peachey, R. D. G. (1970). pregnancy was normal. Clinical examination con- Schonlein-Henoch purpura in the adult; a study of 77 firmed that the child was mature and therefore adults with anaphylactoid or Schonlein-Henoch purpura. Quarterly Journal of Medicine, 39, 461-484. small-for-dates. The head circumference was 31 cm Fitzsimmons, J. S. (1968). Uncommon complication of and the length 40 cm. The following features were anaphylactoid purpura. British MedicalJournal, 4,431-432. noted soon after birth: a triangular-shaped skull Gairdner, D. (1948). The Schonlein-Henoch syndrome (ana- with frontal bossing, low-set ears, broad nasal phylactoid purpura). Quarterly Journal of Medicine, 17, 95-122. bridge, bilateral ptosis, and choroidal colobomata. Imai, T., and Matsumoto, S. (1970). Anaphylactoid purpura The neck was short with markedly redundant skin with cardiac involvement. Archives of Disease in Childhood, folds. The labia minora were rudimentary. The 45, 727-729. thumbs were small and both they and the fifth Jacome, A. F. (1967). Pulmonary hemorrhage and death complicating anaphylactoid purpura. -
13Q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay
G C A T T A C G G C A T genes Article 13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay Flavia Privitera 1,2, Arianna Calonaci 3, Gabriella Doddato 1,2, Filomena Tiziana Papa 1,2, Margherita Baldassarri 1,2 , Anna Maria Pinto 4, Francesca Mari 1,2,4, Ilaria Longo 4, Mauro Caini 3, Daniela Galimberti 3, Theodora Hadjistilianou 5, Sonia De Francesco 5, Alessandra Renieri 1,2,4 and Francesca Ariani 1,2,4,* 1 Medical Genetics, University of Siena, 53100 Siena, Italy; fl[email protected] (F.P.); [email protected] (G.D.); fi[email protected] (F.T.P.); [email protected] (M.B.); [email protected] (F.M.); [email protected] (A.R.) 2 Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy 3 Unit of Pediatrics, Department of Maternal, Newborn and Child Health, Azienda Ospedaliera Universitaria Senese, Policlinico ‘Santa Maria alle Scotte’, 53100 Siena, Italy; [email protected] (A.C.); [email protected] (M.C.); [email protected] (D.G.) 4 Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy; [email protected] (A.M.P.); [email protected] (I.L.) 5 Unit of Ophthalmology and Retinoblastoma Referral Center, Department of Surgery, University of Siena, Policlinico ‘Santa Maria alle Scotte’, 53100 Siena, Italy; [email protected] (T.H.); [email protected] (S.D.F.) * Correspondence: [email protected]; Tel.: +39-057-723-3303 Citation: Privitera, F.; Calonaci, A.; Abstract: Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation Doddato, G.; Papa, F.T.; Baldassarri, of the RB1 gene (13q14). -
Investigating the Effect of Chronic Activation of AMP-Activated Protein
Investigating the effect of chronic activation of AMP-activated protein kinase in vivo Alice Pollard CASE Studentship Award A thesis submitted to Imperial College London for the degree of Doctor of Philosophy September 2017 Cellular Stress Group Medical Research Council London Institute of Medical Sciences Imperial College London 1 Declaration I declare that the work presented in this thesis is my own, and that where information has been derived from the published or unpublished work of others it has been acknowledged in the text and in the list of references. This work has not been submitted to any other university or institute of tertiary education in any form. Alice Pollard The copyright of this thesis rests with the author and is made available under a Creative Commons Attribution Non-Commercial No Derivatives license. Researchers are free to copy, distribute or transmit the thesis on the condition that they attribute it, that they do not use it for commercial purposes and that they do not alter, transform or build upon it. For any reuse or redistribution, researchers must make clear to others the license terms of this work. 2 Abstract The prevalence of obesity and associated diseases has increased significantly in the last decade, and is now a major public health concern. It is a significant risk factor for many diseases, including cardiovascular disease (CVD) and type 2 diabetes. Characterised by excess lipid accumulation in the white adipose tissue, which drives many associated pathologies, obesity is caused by chronic, whole-organism energy imbalance; when caloric intake exceeds energy expenditure. Whilst lifestyle changes remain the most effective treatment for obesity and the associated metabolic syndrome, incidence continues to rise, particularly amongst children, placing significant strain on healthcare systems, as well as financial burden. -
RNA Editing in Drosophila Melanogaster: New Targets and Functional Consequences
JOBNAME: RNA 12#11 2006 PAGE: 1 OUTPUT: Friday September 29 22:56:40 2006 csh/RNA/125782/rna2543 Downloaded from rnajournal.cshlp.org on October 5, 2021 - Published by Cold Spring Harbor Laboratory Press REPORT RNA editing in Drosophila melanogaster: New targets and functional consequences MARK STAPLETON, JOSEPH W. CARLSON, and SUSAN E. CELNIKER Berkeley Drosophila Genome Project, Department of Genome Biology, Life Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA ABSTRACT Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts. These re-coding events affect coding potential, splice sites, and stability of mature mRNAs. ADAR is an essential gene, and studies in mouse, Caenorhabditis elegans, and Drosophila suggest that its primary function is to modify adult behavior by altering signaling components in the nervous system. By comparing the sequence of isogenic cDNAs to genomic DNA, we have identified and experimentally verified 27 new targets of Drosophila ADAR. Our analyses led us to identify new classes of genes whose transcripts are targets of ADAR, including components of the actin cytoskeleton and genes involved in ion homeostasis and signal transduction. Our results indicate that editing in Drosophila increases the diversity of the proteome, and does so in a manner that has direct functional consequences on protein function. Keywords: adenosine deaminase; Drosophila; RNA editing; ADAR; nervous system; transcriptome INTRODUCTION RNA editing are drawn from studies of the mammalian glutamate receptor gene, GluR-B. Receptor pre-mRNA RNA editing is a well-established mechanism in which forms a double-stranded stem structure by imperfect precursor messenger RNA transcripts are subject to re- base-pairing between an exonic sequence, where the edit(s) coding by the enzyme adenosine deaminase, RNA specific occur, and a noncoding intronic element called the editing (ADAR) (Bass 2002). -
Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans
Hindawi Scientifica Volume 2017, Article ID 5364827, 29 pages https://doi.org/10.1155/2017/5364827 Review Article Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans Siti W. Mohd-Zin,1 Ahmed I. Marwan,2 Mohamad K. Abou Chaar,3 Azlina Ahmad-Annuar,4 and Noraishah M. Abdul-Aziz1 1 Department of Parasitology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia 2Laboratory for Fetal and Regenerative Biology, Colorado Fetal Care Center, Division of Pediatric Surgery, Children’s Hospital Colorado, University of Colorado, Anschutz Medical Campus, 12700 E 17th Ave, Aurora, CO 80045, USA 3Training and Technical Division, Islamic Hospital, Abdali, Amman 2414, Jordan 4Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia Correspondence should be addressed to Noraishah M. Abdul-Aziz; [email protected] Received 20 June 2016; Revised 14 November 2016; Accepted 1 December 2016; Published 13 February 2017 Academic Editor: Heinz Hofler Copyright © 2017 Siti W. Mohd-Zin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervoussystemmalformationcompatiblewithlifeandthesecondleadingcauseofbirthdefectsaftercongenitalheartdefects.Inthis review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition.