DOCSLIB.ORG

List of Entries Essays Are Shown in Bold

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
List of Entries Essays Are Shown in Bold List of Entries Essays are shown in bold ▶ AAA ATPase ▶ Actin Polymerisation ▶ AAV ▶ Actin Related Proteins ▶ Abasic Site ▶ Action Potential ▶ ABCB1 ▶ Action Potential Backpropagation ▶ ABC Transporters ▶ Activation (of a Molecule) ▶ Absorption Coefficient ▶ Activators of G Protein Signaling ▶ Absorption Edge ▶ Active Site ▶ Absorptive Intestinal Cells ▶ Activin ▶ ACAMP ▶ Activin Receptor-Like Kinase ▶ Acamprosate ▶ Actomyosin ▶ Acantholysis ▶ ActR-IB/-IC ▶ Acanthosis ▶ ActR-IIA/-IIB ▶ Acceptor ▶ Acute Intermittent Porphyria ▶ Accessible Surface Area ULRICH GROSS ▶ ACE ▶ Acute Lymphoblastic Leukaemia ▶ ACE Inhibitor ▶ Acute Myeloid Leukaemia ▶ Acetabular Protrusion ▶ Acute Phase Proteins ▶ Acetal Linkage ▶ Acute Phase Reaction ▶ Acetyl Choline Esterase ▶ Acute Promyelocytic Leukaemia ▶ AchE ▶ Acyltransferase ▶ Achondrogenesis ▶ AD ▶ Achondroplasia ▶ ADAM ▶ Acousto-Optical Filters ▶ Adaptive Immunity ▶ Acousto-Optical Modulator ▶ Adaptor Complexes ▶ Acousto-Optical Tunable Filter ▶ Adaptor Protein Complexes ▶ Acquired Immunity ▶ Adaptor Proteins ▶ Acquisition Time ▶ Addiction, Molecular Biology ▶ Acrocentric Chromosome WALTER ZIEGLGÄNSBERGER ▶ Acrosome ▶ Addison’s Disease ▶ Acrosome Reaction ▶ Adeno-Associated Virus ▶ ACTH ▶ Adenoma ▶ Actin ▶ Adenomas ▶ Actin Cytoskeleton ▶ Adenomatous Polyposis Coli RAJESH ARASADA,MICHAEL SCHLEICHER ▶ Adenylyl Cyclase ▶ Actin Filaments ▶ ADH 2042 List of Entries ▶ ADHD ▶ ALFPs ▶ Adherens Junction ▶ ALK YASUYUKI FUJITA,CATHERINE HOGAN ▶ Alkaline Phosphatase ▶ Adhesion Molecules ▶ Alkanethiol KERSTIN DANKER ▶ Alkyltransferases ▶ Adipogenesis BERND KAINA,MARKUS CHRISTMANN ▶ Adiponectin ▶ ALL ▶ Adjuvant ▶ Allele ▶ ADMET or ADME / Tox ▶ Allele-Specific ▶ Adoptee’s Family Studies ▶ Allelic Association ▶ ADPKD (Autosomal Dominant Polycystic ▶ Allelic Series Kidney Disease) ▶ Allergic Disorders, Genetics ▶ Adrenal Insufficiency ▶ Allergic Drug Reactions ▶ Adrenocorticotropin ▶ Allergy ▶ Adrenoleucodystrophy ▶ Allostery ▶ Adrenomyeloneuropathy ▶ Allotetraploid ▶ Adult Neurogenesis ▶ Allozygous ▶ Adult Onset Polycystic Kidney Disease ▶ Alpha-Antitrypsin ▶ Adult Stem Cells ▶ Alpha-Glucosidase/Alpha-Mannosidase ▶ AER ▶ Alpha-Helix (α-Helix) ▶ Affinity ▶ Alpha-Mannosidase ▶ Affinity Chromatography ▶ Alpha-Oxidation ▶ Affinity Chromatography and In Vitro ▶ Alpharetroviruses Binding (Beads) ▶ Alpharetroviruses CA (Capsid) KONRAD BÜSSOW ▶ Alpha-Tubulin / Beta-Tubulin ▶ Affinity Constant ▶ Alphoid DNA ▶ Affinity Separation ▶ Alternative Splicing ▶ Affinity Tag STEFAN STAMM ▶ Agarose ▶ Alu Repetitive Elements ▶ Aggrecan ▶ Aly/ REF ▶ Aggregation (Chimera) ▶ Alzheimer Dementia ▶ Aggregophore ▶ Alzheimer’s Disease ▶ Aging ULRICH FINCKH ▶ Agonist ▶ AMACR Deficiency ▶ Agouti ▶ Amadori Rearrangement ▶ AGS ▶ AME ▶ AGT ▶ AMH / MIS ▶ AHO ▶ AMHR-II ▶ AIDS ▶ Amide Bonds ▶ AJ ▶ Amide-Linkage ▶ Akt ▶ Amino Acids: Physicochemical Properties ▶ Alagille Syndrome EPHRAIM KATCHALSKI-KATZIR, ▶ Albright’s Hereditary Osteodystrophy RONI KASHER,MATI FRIDKIN ▶ Alcohol Abuse, Consequences ▶ AML ▶ ALD ▶ AMN ▶ Aldosterone ▶ AMP List of Entries 2043 ▶ Amphetamine ▶ Antibody Array ▶ Amphipathic ▶ Antibody Chip ▶ Amplification ▶ Antibody Cross Reactivity ▶ Amplified Fragment Length Polymorphic ▶ Anticipation Markers ▶ Anticodon ▶ Amygdala ▶ Anti-Craving Substances ▶ Amyloid ▶ Antigen ▶ Amyloidosis ▶ Antigen Expression ▶ Amyotrophy ▶ Antigen Receptors ▶ Analytical Ultracentrifugation ▶ Antimüllerian Hormone PETER SCHUCK ▶ Anti-Nuclear Autoantibodies ▶ Anaphase ▶ Antiparallel ▶ Anaphase Movement ▶ Antiretroviral Agents ▶ Anaphase Promoting Complex ▶ Antisense (Oligonucleotides) (APC)/Cyclosome ▶ Antisense RNA ▶ ANAs ▶ Antisera ▶ Anchorage Dependence/Independence ▶ AOM ▶ Androgen Insensitivity ▶ Aorta ▶ Androgen Receptor (Gene) ▶ AOTF ▶ Aneuploidy ▶ AP Endonuclease ▶ Angelman Syndrome ▶ AP–1 ▶ Angiofibroma ▶ APC ▶ Angiogenesis ▶ APC KARL H. PLATE ▶ APC/C ▶ Angiogenesis Factors ▶ APCI ▶ Angiogenesis-Dependent Diseases ▶ APH–1 ▶ Angiomyolipoma ▶ Apheresis ▶ Angiotensin Converting Enzyme ▶ Apical Ectodermal Ridge ▶ Ångström (Å) ▶ Apical Junctional Complex ▶ Animal Cap ▶ Apical Membrane ▶ Animal Model ▶ APL ▶ Anionic C-terminal Carboxylate ▶ APOE ▶ Ankyrin Repeat ▶ APO–2 ligand ▶ Anlage ▶ apoE Null (Mutant, Knockout) Mice ▶ Annotation ▶ Apolar ▶ Anomalous Diffraction, Anomalous Scattering ▶ Apolipoprotein ▶ Anomalous Scatterer ▶ Apoptosis ▶ Anomalous Scattering ▶ Apoptosis, Regulation and Clinical ▶ Anomer Implications ▶ ANT1 HANS-UWE SIMON, ▶ Antagonist UWE ZANGEMEISTER-WITTKE ▶ ANT-C ▶ Apoptosome ▶ Antennapedia Complex ▶ APP/App ▶ Anterior Horn Cells ▶ Apparent Mineralocorticoid Excess ▶ Anthracyclines ▶ Appositional Growth ▶ Antibody ▶ APR 2044 List of Entries ▶ Aptamer ▶ Atrophia Gyrata ▶ Apurinic or Apyrimidinic (AP) Sites ▶ Attention Deficit Hyperactivity Disorder ▶ AQP2 ▶ Attenuation ▶ Aquaporin ▶ AUG Translational Start Site ▶ Aquaporin–2 ▶ AU-Rich Elements ▶ Arabinogalactan ▶ Aurora Kinases ▶ Arachnodactyly ▶ Autoantibody ▶ Archimedes Principle ▶ Autoantigen ▶ ARE ▶ Autocorrelation ▶ ARF ▶ Autocrine ▶ Armadillo ▶ Autogenous Translational Control ▶ Arp2/3 Complex ▶ Autoimmune Diseases ▶ Array WESTLEY H. REEVES ▶ ARS ▶ Autoimmune Thyroid Disease ▶ ARVs ▶ Autoimmunity ▶ Arylsulfatase A ▶ Autoinflammatory Disease ▶ Ashkenazi ▶ Automated High Throughput Functional ▶ Asn-Linked Glycosylation Characterization of Human Proteins ▶ Assembly DIETER LINK ▶ Assisted Reproduction ▶ Autonomic Nervous System ▶ Association ▶ Autonomous Transposable Element ▶ Association Studies ▶ Autonomously Replicating Sequence ▶ Association-Dissociation Equilibrium ▶ Autophosphorylation ▶ Aster ▶ Autosomal ▶ Asthma ▶ Autosomal Dominant (Inherited Disorder) ▶ Astral Microtubule ▶ Autosomal Dominant Hypercholesterolemia ▶ Astrocyte ▶ Autosomal Dominant Polycystic Kidney ▶ Asymmetric Carbon Atom Disease ▶ Asymmetric Cell Division ▶ Autosomal Recessive (Disorder) ▶ Asymmetric Unit ▶ Autosomal Recessive Spinal Muscular ▶ Asynchronous Replication Atrophy ▶ Ataxia ▶ Autosome ▶ Ataxia Telangiectasia (AT) ▶ Auxotrophic ▶ Ataxia Telangiectasia-Like Disease ▶ Avascular ▶ Ataxia Teleangiectasia Mutated Gene ▶ Avidin ▶ Atelosteogenesis ▶ Avidity/Affinity ▶ AT-LD ▶ Axial Element ▶ ATM ▶ Axin/Conductin ▶ Atomic Force Microscopy ▶ Axis Formation – Formation and Function FILIPP OESTERHELT of the Dorsal Organizer ▶ Atopy, Genetics MASAHIKO HIBI SABINE HOFFJAN ▶ Axon ▶ ATP ▶ Axon Guidance ▶ ATPase ▶ Axon Initial Segment ▶ ATP-Binding Cassette (ABC) Transporters ▶ Axonal Outgrowth ▶ ATP-Dependent Nucleosome Remodelling ▶ B Lymphocyte List of Entries 2045 ▶ β-TrCP ▶ Beta-Catenin (β-Catenin) ▶ BAC ▶ Beta-Oxidation ▶ BAC Transgene ▶ Beta-Sheet Oligomers (β-Sheet Oligomer) ▶ Back-Projection ▶ Beta-Sheet Structure (β-Sheet Structure) ▶ Bacterial Artificial Chromosome ▶ Beta-Tubulin ▶ Bacteriophage ▶ bHLH ▶ Bacteriophage Display ▶ bHLH Transcription Factors ▶ Bacteriophage Lambda ▶ Biallelic ▶ Bacteriophage Surface Display ▶ Bicistronic ▶ Bait ▶ Bijvoet Difference ▶ Balancer Chromosome ▶ Bile Acids ▶ Balbiani Ring mRNP ▶ Bile Ducts (Choledochus) ▶ Band Keratopathy ▶ Biliary Atresia ▶ Baroreceptor Reflex/Baroreflex ▶ Bimolecular Process ▶ Barr Body ▶ Binary GAL4-Expression System ▶ Basal Cell Carcinoma ▶ Binding Affinity ▶ Basal Ganglia ▶ Binding Isotherm ▶ Basal Promoter ▶ Bio-Beads ▶ Base Excision Repair ▶ Biochemical Engineering of Glycoproteins MARIA KARTALOU,LEONA D. SAMSON RÜDIGER HORSTKORTE ▶ Basement Membrane (BM) ▶ Biochip ▶ Base-Pairs (bp) ▶ Biochip Technology ▶ Basic Helix-Loop-Helix ▶ Bioconjugation ▶ Basic Helix-Loop-Helix Transcription Factors ▶ Bioethics ▶ Basic-Region-Leucine Zipper ▶ Biogerontology ▶ Basolateral Domain ▶ Bioinformatics ▶ Batch Entrez ▶ Biological Membranes ▶ BC1/BC100 THOMAS POMORSKI,ANDREAS HERRMANN ▶ BCC ▶ Biologicals ▶ B-Cell Epitope ▶ Biologics ▶ Bcl–2/Bcl–xL ▶ Biomarker ▶ B-CLL ▶ Biomimetic Ligands ▶ BCR-ABL ▶ Biopanning ▶ BCRP ▶ Biopharmaceuticals ▶ BCYRN1 ▶ Biosensors ▶ BDNF ▶ Bipartite NLS ▶ Bead Models ▶ Bipolar Affective Disorder ▶ Beads MARKUS M. NÖTHEN,SVEN CICHON, ▶ Becker Muscular Dystrophy CHRISTINE SCHMÄL,MARCELLA RIETSCHEL ▶ Beckwith-Wiedemann Syndrome ▶ Bispecific Antibodies ▶ BER ▶ Bithorax Complex (BX-C) ▶ Bernard-Soulier Syndrome ▶ BLAST ▶ Beta Adrenergic Blocker ▶ BLAST Link ▶ Beta2-Syntrophin/Utrophin Complex ▶ Blastocyst ▶ Beta-Amyloid (β-Amyloid) ▶ Blastocyst Injection ▶ Beta-Blocker (β-Blocker) ▶ Blastomere 2046 List of Entries ▶ BLink ▶ Bud Neck ▶ Blocked 5′ Structure ▶ Bullous (Blistering) ▶ Blocks ▶ Bullous Impetigo ▶ Bloom Syndrome ▶ BX-C EBERHARD PASSARGE ▶ bZip ▶ Blotting ▶ bZIP Proteins ▶ BMP ▶ C Type Lectin Domain ▶ BMPR-IA/-IB ▶ C. Elegans ▶ BMPR–II ▶ C. elegans Genome, Comparative ▶ Boc Chemistry Sequencing ▶ Bone and Cartilage JAGAN SRINIVASAN,RALF J. SOMMER CHRISTINE HARTMANN ▶ C2H2 Zinc Finger Gene ▶ Bone Disease and Skeletal Disorders, ▶ C57BL/6J Genetics ▶ CAAX-Box STEFAN MUNDLOS ▶ CADASIL ▶ Bone Lining Cell ▶ Cadherins ▶ Bone Marrow AKIRA NAGAFUCHI, MASATOSHI TAKEICHI ▶ Bone Morphogenetic Proteins ▶ caenorhabditis elegans ▶ Bootstrapping ▶ Caenorhabditis elegans as a Model ▶ Boundary Conditions Organism for Functional Genomics ▶ Bovine Spongiform Encephalopathy ADAM ANTEBI ▶ Brachydactyly ▶ Caged Compound ▶ Bragg's Law ▶ Caging Group ▶ Brain ▶ Calcified INGO BECHMANN ▶ Calcium Release Channel ▶ Brain-Derived Neurotrophic Factor ▶ Calnexin ▶ Branchial Arches ▶ Calpain 10 ▶ BRCA ▶ Calreticulin ▶ BRCA1 ▶ Camel as a Model for Functional Genomics ▶ BRCA2 DIRK SAERENS,MIREILLE PELLIS, ▶ BRCT Domain CÉCILE VINCKE,ELS
Load more
Loading...
Loading...
Loading...
Loading...
Loading...

45 pages remaining, click to load more.

Recommended publications
  • Chromosomal Abnormality in Men with Impaired Spermatogenesis
    Original Article Chromosomal Abnormality in Men with Impaired Spermatogenesis Dana Mierla, M.D.1, 2*, Dumitru Jardan, M.D.1, Veronica Stoian, Ph.D.2 1. Life Memorial Hospital, Bucharest, Romania 2. Department of Genetics, Faculty of Biology, University of Bucharest, Bucharest, Romania Abstract Background: Chromosomal abnormalities and Y chromosome microdeletions are re- garded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population. Materials and Methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype anal- ysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher’s exact test. Results: In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively. Conclusion: Our data suggests that infertile men with severe azoospermia have higher incidences of genetic defects than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI) or testicular sperm extraction (TESE)/ICSI treatment. Keywords: Chromosomal Abnormality, Chromosome Microdeletion, Male Infertility, Azoospermia, Oligozoospermia Citation: Mierla D, Jardan D, Stoian V.
    [Show full text]
  • In Silico Signature Prediction Modeling in Cytolethal Distending Toxin-Producing Escherichia Coli Strains
    eISSN 2234-0742 Genomics Inform 2017;15(2):69-80 G&I Genomics & Informatics https://doi.org/10.5808/GI.2017.15.2.69 ORIGINAL ARTICLE In Silico Signature Prediction Modeling in Cytolethal Distending Toxin-Producing Escherichia coli Strains Maryam Javadi, Mana Oloomi*, Saeid Bouzari Department of Molecular Biology, Pasteur Institute of Iran, Tehran 13164, Iran In this study, cytolethal distending toxin (CDT) producer isolates genome were compared with genome of pathogenic and commensal Escherichia coli strains. Conserved genomic signatures among different types of CDT producer E. coli strains were assessed. It was shown that they could be used as biomarkers for research purposes and clinical diagnosis by polymerase chain reaction, or in vaccine development. cdt genes and several other genetic biomarkers were identified as signature sequences in CDT producer strains. The identified signatures include several individual phage proteins (holins, nucleases, and terminases, and transferases) and multiple members of different protein families (the lambda family, phage-integrase family, phage-tail tape protein family, putative membrane proteins, regulatory proteins, restriction-modification system proteins, tail fiber-assembly proteins, base plate-assembly proteins, and other prophage tail-related proteins). In this study, a sporadic phylogenic pattern was demonstrated in the CDT-producing strains. In conclusion, conserved signature proteins in a wide range of pathogenic bacterial strains can potentially be used in modern vaccine-design strategies. Keywords: biomarkers, cytolethal distending toxin, genomic signature, multiple alignments, pathogenic Escherichia coli In this study, comparative genome analysis of CDT-pro- Introduction ducer E. coli isolates with other pathogenic and commensal strains was performed. Alignments between multiple The co-evolution of pathogenic bacteria and their hosts genomes led to the identification of a set of distinct leads to the generation of functional pathogen-host inter- (“signature”) sequence motifs.
    [Show full text]
  • Benefits of Exome Sequencing in Children with Suspected Isolated
    G C A T T A C G G C A T genes Article Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss Roxane Van Heurck 1, Maria Teresa Carminho-Rodrigues 1, Emmanuelle Ranza 1, Caterina Stafuzza 2, Lina Quteineh 1, Corinne Gehrig 1, Eva Hammar 1, Michel Guipponi 1, Marc Abramowicz 1, Pascal Senn 2 , Nils Guinand 2, Helene Cao-Van 2 and Ariane Paoloni-Giacobino 1,* 1 Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland; roxane.vanheurck@hcuge.ch (R.V.H.); mtcarminho@gmail.com (M.T.C.-R.); Emmanuelle.Ranza@medigenome.ch (E.R.); Lina.Quteineh@hcuge.ch (L.Q.); Corinne.Gehrig@hcuge.ch (C.G.); Eva.Hammar@hcuge.ch (E.H.); Michel.Guipponi@hcuge.ch (M.G.); Marc.Abramowicz@hcuge.ch (M.A.) 2 Ear-Nose-Throat/Head and Neck Surgery Division, Geneva University Hospitals, 1205 Geneva, Switzerland; Caterina.Stafuzza@hcuge.ch (C.S.); Pascal.Senn@hcuge.ch (P.S.); Nils.Guinand@hcuge.ch (N.G.); Helene.CaoVan@hcuge.ch (H.C.-V.) * Correspondence: Ariane.Giacobino@hcuge.ch Abstract: Purpose: Hearing loss is characterized by an extensive genetic heterogeneity and remains a common disorder in children. Molecular diagnosis is of particular benefit in children, and permits the early identification of clinically-unrecognized hearing loss syndromes, which permits effective clinical management and follow-up, including genetic counselling. Methods: We performed whole-exome Citation: Van Heurck, R.; sequencing with the analysis of a panel of 189 genes associated with hearing loss in a prospective Carminho-Rodrigues, M.T.; Ranza, E.; cohort of 61 children and 9 adults presenting mainly with isolated hearing loss.
    [Show full text]
  • Type II Familial Synpolydactyly: Report on Two Families with an Emphasis on Variations of Expression
    European Journal of Human Genetics (2011) 19, 112–114 & 2011 Macmillan Publishers Limited All rights reserved 1018-4813/11 www.nature.com/ejhg SHORT REPORT Type II familial synpolydactyly: report on two families with an emphasis on variations of expression Mohammad M Al-Qattan*,1 Type II familial synpolydactyly is rare and is known to have variable expression. However, no previous papers have attempted to review these variations. The aim of this paper was to review these variations and show several of these variable expressions in two families. The classic features of type II familial synpolydactyly are bilateral synpolydactyly of the third web spaces of the hands and bilateral synpolydactyly of the fourth web spaces of the feet. Several members of the two families reported in this paper showed the following variations: the third web spaces of the hands showing syndactyly without the polydactyly, normal feet, concurrent polydactyly of the little finger, concurrent clinodactyly of the little finger and the ‘homozygous’ phenotype. It was concluded that variable expressions of type II familial synpolydactyly are common and awareness of such variations is important to clinicians. European Journal of Human Genetics (2011) 19, 112–114; doi:10.1038/ejhg.2010.127; published online 18 August 2010 Keywords: type II familial syndactyly; inherited synpolydactyly; variations of expression INTRODUCTION CASE REPORTS Type II familial synpolydactyly is rare and it has been reported in o30 The first family families.1–12 It is characterized by bilateral synpolydactyly of the third The family had a history of synpolydactyly type II for several web spaces of the hands and bilateral synpolydactyly of the fourth web generations on the mother’s side (Table 1).
    [Show full text]
  • Dissertationes Medicinae Universitatis Tartuensis 178
    DISSERTATIONES MEDICINAE UNIVERSITATIS TARTUENSIS 178 DISSERTATIONES MEDICINAE UNIVERSITATIS TARTUENSIS 178 RITA TEEK The genetic causes of early onset hearing loss in Estonian children Department of Paediatrics, University of Tartu, Tartu, Estonia Dissertation is accepted for commencement of the degree of Doctor of Medical Sciences on September 22, 2010 by the Council of the Faculty of Medicine, University of Tartu, Estonia. Supervisors: Professor Katrin Õunap, MD, PhD, Department of Paediatrics, University of Tartu, Tartu, Estonia The Late Professor Mart Kull, MD, PhD, Department of Oto-Rhino-Laryngology, University of Tartu, Tartu, Estonia (2005–2008) Reviewers: Assistant Professor Gunnar Tasa, MD, PhD, Department of General and Molecular Pathology, University of Tartu, Tartu, Estonia Assistant Professor Oivi Uibo, MD, PhD, Department of Paediatrics, University of Tartu, Tartu, Estonia Opponent: Professor Lisbeth Tranebjærg, MD, PhD, Department of Audiology, H:S Bispebjerg Hospital, and Wilhelm Johannsen Centre of Functional Genomics Institute of Cellular and Molecular Medicine, ICMM, University of Copenhagen, The Panum Institute, Denmark Commencement: November 24, 2010 ISSN 1024–395x ISBN 978–9949–19–478–0 (trükis) ISBN 978–9949–19–479–7 (PDF) Autoriõigus: Rita Teek, 2010 Tartu Ülikooli Kirjastus www.tyk.ee Tellimuse nr. 570 To my patients and their families CONTENTS LIST OF ORIGINAL PUBLICATIONS ...................................................... 9 ABBREVIATIONS OF HEARING LOSS STUDY GROUPS AND PATIENTS ....................................................................................................
    [Show full text]
  • Abstracts from the 9Th Biennial Scientific Meeting of The
    International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 DOI 10.1186/s13633-017-0054-x MEETING ABSTRACTS Open Access Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE) Tokyo, Japan. 17-20 November 2016 Published: 28 Dec 2017 PS1 Heritable forms of primary bone fragility in children typically lead to Fat fate and disease - from science to global policy a clinical diagnosis of either osteogenesis imperfecta (OI) or juvenile Peter Gluckman osteoporosis (JO). OI is usually caused by dominant mutations affect- Office of Chief Science Advsor to the Prime Minister ing one of the two genes that code for two collagen type I, but a re- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS1 cessive form of OI is present in 5-10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that Attempts to deal with the obesity epidemic based solely on adult be- play a role in the processing of collagen type I protein (BMP1, havioural change have been rather disappointing. Indeed the evidence CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, PLOD2, SERPINF1, that biological, developmental and contextual factors are operating SERPINH1, SEC24D, SPARC, from the earliest stages in development and indeed across generations TMEM38B), or interfere with osteoblast function (SP7, WNT1). Specific is compelling. The marked individual differences in the sensitivity to the phenotypes are caused by mutations in SERPINF1 (recessive OI type obesogenic environment need to be understood at both the individual VI), P4HB (Cole-Carpenter syndrome) and SEC24D (‘Cole-Carpenter and population level.
    [Show full text]
  • The Genetic Basis for Skeletal Diseases
    insight review articles The genetic basis for skeletal diseases Elazar Zelzer & Bjorn R. Olsen Harvard Medical School, Department of Cell Biology, 240 Longwood Avenue, Boston, Massachusetts 02115, USA (e-mail: bjorn_olsen@hms.harvard.edu) We walk, run, work and play, paying little attention to our bones, their joints and their muscle connections, because the system works. Evolution has refined robust genetic mechanisms for skeletal development and growth that are able to direct the formation of a complex, yet wonderfully adaptable organ system. How is it done? Recent studies of rare genetic diseases have identified many of the critical transcription factors and signalling pathways specifying the normal development of bones, confirming the wisdom of William Harvey when he said: “nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path”. enetic studies of diseases that affect skeletal differentiation to cartilage cells (chondrocytes) or bone cells development and growth are providing (osteoblasts) within the condensations. Subsequent growth invaluable insights into the roles not only of during the organogenesis phase generates cartilage models individual genes, but also of entire (anlagen) of future bones (as in limb bones) or membranous developmental pathways. Different mutations bones (as in the cranial vault) (Fig. 1). The cartilage anlagen Gin the same gene may result in a range of abnormalities, are replaced by bone and marrow in a process called endo- and disease ‘families’ are frequently caused by mutations in chondral ossification. Finally, a process of growth and components of the same pathway.
    [Show full text]
  • Ovarian Dysgenesis and Premature Ovarian Failure (POF)
    The Genes Involved in Hearing and Endocrine Disorders A Thesis submitted to the University of Manchester for the degree of Doctor of Philosophy in the Faculty of Medical and Human Sciences. 2012 Emma Mary Jenkinson School of Medicine CONTENTS Content Page List of Tables 7 List of Figures 10 Abstract 16 Declaration 17 Copyright statement 17 Acknowledgment 19 Abbreviations 20 Chapter 1: Introduction 24 1. Introduction 25 1.1. Sensorineural Hearing Loss 25 1.1.1 Genes which Regulate Ion Homeostasis in the Cochlear 28 1.1.2 Genes Responsible for Formation and Maintenance of the 29 Hair bundles 1.1.3 Genes Responsible for Maintenance of the Extracellular 32 Matrix 1.1.4 Transcription Factor Genes 34 1.1.5 Genes of Poorly Established Function 35 1.1.6 The Need for Further Research in Deafness Genetics 37 1.2 Hypothalamic Pituitary Gonadal axis 37 1.2.1 Hypogonadotropic Hypogonadism 39 1.2.2 Hypergonadotropic Hypogonadism: Premature Ovarian 52 Failure (POF) and Ovarian Dysgenesis 1.2.3 Premature Ovarian Failure and Sensorineural Hearing 71 Loss: Perrault Syndrome 1.3 The Evolution of Techniques in Genetic Medicine 80 1.3.1 Linkage Mapping 80 1.3.2 From Locus to Gene Mutation 83 1.3.3 Next Generation Sequencing 84 1.4 Aim 89 Chapter 2: Materials and Methods 91 2.Materials and Methods 92 2 2.1 Suppliers 92 2.2 Nucleic Acid procedures 92 2.2.1 DNA Extraction 92 2.2.2 RNA Extraction 92 2.2.3 Quantification of Nucleic Acids 93 2.2.4 Standard PCR Reaction 93 2.2.5 Agarose Gel Electrophoresis 94 2.2.6 Purification of PCR Products 95 2.2.7 Sequencing
    [Show full text]
  • The Journal of the International Federation of Clinical Chemistry and Laboratory Medicine in This Issue
    June 2021 ISSN 1650-3414 Volume 32 Number 2 Communications and Publications Division (CPD) of the IFCC Editor-in-chief: Prof. János Kappelmayer, MD, PhD Faculty of Medicine, University of Debrecen, Hungary e-mail: ejifcc@ifcc.org The Journal of the International Federation of Clinical Chemistry and Laboratory Medicine In this issue Introducing the eJIFCC special issue on “POCT – making the point” Guest editor: Sergio Bernardini 116 Controlling reliability, interoperability and security of mobile health solutions Damien Gruson 118 Best laboratory practices regarding POCT in different settings (hospital and outside the hospital) Adil I. Khan 124 POCT accreditation ISO 15189 and ISO 22870: making the point Paloma Oliver, Pilar Fernandez-Calle, Antonio Buno 131 Utilizing point-of-care testing to optimize patient care James H. Nichols 140 POCT: an inherently ideal tool in pediatric laboratory medicine Siobhan Wilson, Mary Kathryn Bohn, Khosrow Adeli 145 Point of care testing of serum electrolytes and lactate in sick children Aashima Dabas, Shipra Agrawal, Vernika Tyagi, Shikha Sharma, Vandana Rastogi, Urmila Jhamb, Pradeep Kumar Dabla 158 Training and competency strategies for point-of-care testing Sedef Yenice 167 Leading POCT networks: operating POCT programs across multiple sites involving vast geographical areas and rural communities Edward W. Randell, Vinita Thakur 179 Connectivity strategies in managing a POCT service Rajiv Erasmus, Sumedha Sahni, Rania El-Sharkawy 190 POCT in developing countries Prasenjit Mitra, Praveen Sharma 195 In this issue How could POCT be a useful tool for migrant and refugee health? Sergio Bernardini, Massimo Pieri, Marco Ciotti 200 Direct to consumer laboratory testing (DTCT) – opportunities and concerns Matthias Orth 209 Clinical assessment of the DiaSorin LIAISON SARS-CoV-2 Ag chemiluminescence immunoassay Gian Luca Salvagno, Gianluca Gianfilippi, Giacomo Fiorio, Laura Pighi, Simone De Nitto, Brandon M.
    [Show full text]
  • 1995) Borrelia Burgdorferi-Specific T Lymphocytes Induce Severe Destructive Lyme Arthritis
    LTT (Lymphozyten-Proliferationstest, „Lymphozyten-Transformationstest“) Interferon Gamma Test, ELISpot (T-Cell Spot), dem Lymphozytentransformationstest bei Borreliose und bei anderen Infektionskrankheiten Im Lymphozyten-Proliferationstest, auch Lymphozyten-Transformationstest genannt (LTT), wird die Proliferationskapazität von Lymphozyten dargestellt. Der Test dient der Bewertung des Immunstatus oder der Diagnose einer speziellen Sensibilisierung. In the Lymphocyte proliferation assay, also known as lymphocyte transformation test (LTT), the proliferation capacity of lymphocytes is shown. The test is used to evaluate the immune status or the diagnosis of specific sensitization of an object. Im Interferon Gamma Test, dem ELISPOT (Enzyme-Linked ImmunoSpot), auch T- Cellspot genannt, wird durch die Bestimmung der Zytokin – Produktion die Quantität und die Qualität einer T – Zell - Immunantwort zeitnah dokumentiert. In the Interferone Gamma Test, ELISPOT (Enzyme-Linked ImmunoSpot), also called T-Cell spot, represented by the determination of cytokine – Production, the quantity and quality of T - cell - immune response in a timely manner is documented. Lim LC, England DM, DuChateau BK, Glowacki NJ, Schell RF (1995) Borrelia burgdorferi-specific T lymphocytes induce severe destructive Lyme arthritis. Infect. Immun. 63, 1400-1408. Dwyer JM et al. (1979) Behavior of human immunoregulatory cells in culture. L Variables requiring consideration for clinical studies. Clin Exp Immunol 38, 499-513 Johnson C, Dwyer JM (1981) Quantitation of spontaneous suppressor cell activity in human cord blood lymphocytes and their behavior in culture (abstract). Fed Proc 40, 1075 Czerkinsky C, Nilsson L, Nygren H, Ouchterlony O, Tarkowski A (1983) A solid-phase enzyme- linked immunospot (ELISPOT) assay for enumeration of specific antibody-secreting cells.J Immunol Methods 65 (1–2), 109–121.
    [Show full text]
  • Abstract Book
    Abstract Book First World Conference on Ichthyosis August 31 – September 2, 2007 Münster, Germany Organized by Network for Ichthyoses and related keratinization disorders (NIRK) together with Selbsthilfe Ichthyose e.V. and EU-Coordination Action GENESKIN Contacts: H. Traupe, Münster, Email: traupeh@mednet.uni-muenster.de B. Willis, Münster, Email: brigitte.willis@ukmuenster.de Barbara Kleinow, Email: abcr.kleinow@t-online.de Geske Wehr, Email: diewehrs@t-online.de Location: Lecture Hall Location:Department of Dermatology University Hospital Von Esmarch-Str. 58 48149 Münster Germany Friday, August 31, 2007 page Workshop on clinical diversity and diagnostic standardization D. Metze, Münster Histopathology of ichthyoses: Clues for diagnostic standardization ..................................... 19 I. Hausser, Heidelberg Ultrastructural characterization of lamellar ichthyosis: A tool for diagnostic standardization 13 H. Verst, Münster The data base behind the NIRK register: a secure tool for genotype/phenotype analysis 34 V. Oji, Münster Classification of congenital ichthyosis ................................................................................... 20 M. Raghunath, Singapore Congenital Ichthyosis in South East Asia ............................................................................. 25 Keratinization disorders and keratins I. Hausser, Heidelberg Ultrastructure of keratin disorders: What do they have in common? ................................... 12 M. Arin, Köln Recent advances in keratin disorders .................................................................................
    [Show full text]
  • Sex Chromosome Aneuploidies
    7 Sex Chromosome Aneuploidies Eliona Demaliaj1, Albana Cerekja2 and Juan Piazze3 1Department of Obstetric-Gynecology, Faculty of Medicine, University of Tirana Hospital "Mbreteresha Geraldine", Tirane 2Gynecology and Obstetrics Ultrasound Division, ASL Roma B, Rome 3Ultrasound Division, Ospedale di Ceprano/Ospedale SS. Trinità di Sora, Frosinone 1Albania 2,3Italy 1. Introduction Sex chromosome aneuploidy is defined as a numeric abnormality of an X or Y chromosome, with addition or loss of an entire X or Y chromosome. Sex chromosome mosaicism, in which one or more populations of cells have lost or gained a sex chromosome, also is common. The most commonly occurring sex chromosome mosaic karyotypes include 45,X/46XX, 46XX/47,XXX, and 46,XY/47,XXY. Less frequent are those sex chromosome abnormalities where addition of more than one sex chromosome or a structural variant of an X or Y chromosome occur. The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY and X0 sex-determination system. The X chromosome in humans represents about 2000 out of 20,000 - 25,0000 genes. Normal human females have 2 X-chromosomes (XX), for a total of nearly 4000 "sex-tied" genes (many of which have nothing to do with sex, other than being attached to the chromosome that is believed to cause sexual bimorphism (or polymorphism if you count more rare variations). Men have, depending on the study, 1400-1900 fewer genes, as the Y chromosome is thought to have only the remaining genes down from an estimated 1438 -~2000 (Graves 2004).
    [Show full text]