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1. American journal of medical genetics
: Part C, Seminars in medical genetics
American journal of medical genetics, ISSN 1552-4868, 2003
Medical genetics
Journal
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2. Full Text Phase Formation during Heat Treatment of Zn‐ and ZnAlMg‐Coated Steels at 400 and 750 °C
by Windmann, Matthias and Barthen, Mario and Opitz, Tobias and Hahn, Isabel and Röttger, Arne and Theisen, Werner
steel research international, ISSN 1611-3683, 07/2019, Volume 90, Issue 7, pp. 1800588 - n/a
In contrast to a cold‐forming process, a tempered forming process is able to deform high‐strength steel used for manufacturing automotive bodyworks in a more... 
X‐ray diffraction (XRD) | galvanostatic | intermetallics | steel | metal coatings | zinc | X-ray diffraction (XRD) | Intermetallic compounds | Zinc compounds | Zinc | Cathodic protection | Heat treatment | Cathodic coating (process) | Deformation | Zinc coatings | Metal sheets | Steel | Structural steels | Cathodic corrosion | Corrosion prevention | Solid state | Diffusion layers | Gamma phase | Dwell time | Diffusion coating | Heat treating | Protective coatings | Melts
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3. Full Text Protein kinase Cβ as a therapeutic target stabilizing blood-brain barrier disruption in experimental autoimmune encephalomyelitis
by Tobias V. Lanz and Simon Becker and Matthias Osswald and Stefan Bittner and Michael K. Schuhmann and Christiane A. Opitz and Sadanand Gaikwad and Benedikt Wiestler and Ulrike M. Litzenburger and Felix Sahm and Martina Ott and Simeon Iwantscheff and Carl Grabitz and Michel Mittelbronn and Andreas von Deimling and Frank Winkler and Sven G. Meuth and Wolfgang Wick and Michael Platten
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2013, Volume 110, Issue 36, pp. 14735 - 14740
Disruption of the blood-brain barrier (BBB) is a hallmark of acute inflammatory lesions in multiple sclerosis (MS) and its animal model experimental autoimmune... 
T lymphocytes | Nervous system diseases | Demyelinating diseases | Tight junctions | Medical treatment | Central nervous system | Central nervous system diseases | Mice | Blood brain barrier | Endothelial cells | EAE | Enzastaurin | CNS | TIGHT JUNCTIONS | GLIOBLASTOMA | MULTIPLE-SCLEROSIS | PATHWAY | enzastaurin | MULTIDISCIPLINARY SCIENCES | ENDOTHELIAL-CELLS | PHASE-II | CENTRAL-NERVOUS-SYSTEM | INHIBITOR | Immunohistochemistry | Claudin-5 - metabolism | Encephalomyelitis, Autoimmune, Experimental - immunology | Gene Expression Profiling | Dose-Response Relationship, Drug | Transendothelial and Transepithelial Migration - drug effects | Inflammation - metabolism | T-Lymphocytes - metabolism | T-Lymphocytes - drug effects | Demyelinating Diseases - immunology | Claudin-3 - metabolism | Female | Indoles - pharmacology | Zonula Occludens-1 Protein - metabolism | Cytokines - immunology | Tight Junctions - drug effects | Tight Junctions - metabolism | Blood-Brain Barrier - immunology | Encephalomyelitis, Autoimmune, Experimental - pathology | Cytokines - metabolism | Endothelial Cells - metabolism | Mice, Inbred C57BL | Indoles - immunology | Inflammation - immunology | Protein Kinase C beta - immunology | Demyelinating Diseases - prevention & control | Mice, Inbred Strains | Reverse Transcriptase Polymerase Chain Reaction | Transendothelial and Transepithelial Migration - immunology | Blood-Brain Barrier - drug effects | Endothelial Cells - immunology | Microscopy, Confocal | Animals | Tight Junctions - immunology | Zonula Occludens-1 Protein - immunology | Encephalomyelitis, Autoimmune, Experimental - prevention & control | Protein Kinase C beta - metabolism | T-Lymphocytes - immunology | Cell Proliferation - drug effects | Claudin-5 - immunology | Inflammation - prevention & control | Claudin-3 - immunology | Protein Kinase C beta - antagonists & inhibitors | Endothelial Cells - drug effects | Biological Sciences
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4. Full Text Cation diffusion in La0.6Sr0.4CoO3−δ below 800 °C and its relevance for Sr segregation
by Kubicek, Markus and Rupp, Ghislain M and Huber, Stefanie and Penn, Alexander and Opitz, Alexander K and Bernardi, Johannes and Stöger-Pollach, Michael and Hutter, Herbert and Fleig, Jürgen
Physical Chemistry Chemical Physics, ISSN 1463-9076, 1/2014, Volume 16, Issue 6, pp. 2715 - 2726
Cation diffusion was investigated in La 0.6 Sr 0.4 CoO 3− δ (LSC) thin films on (100) yttria stabilized zirconia in the temperature range 625-800 °C. Isotopic... 
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5. Full Text A de Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C Syndromes
by Urreizti, Roser and Cueto-Gonzalez, Anna Maria and Franco-Valls, Héctor and Mort-Farre, Sílvia and Roca-Ayats, Neus and Ponomarenko, Julia and Cozzuto, Luca and Company, Carlos and Bosio, Mattia and Ossowski, Stephan and Montfort, Magda and Hecht, Jochen and Tizzano, Eduardo F and Cormand, Bru and Vilageliu, Lluïsa and Opitz, John M and Neri, Giovanni and Grinberg, Daniel and Balcells, Susana
Scientific Reports, ISSN 2045-2322, 03/2017, Volume 7, Issue 1, p. 44138
Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,... 
UBIQUITINATION | APOPTOSIS | CD96 | COMPLEX | GENE | MULTIDISCIPLINARY SCIENCES | IDENTIFICATION | TRUNCATING MUTATIONS | ASXL1 MUTATIONS | DEUBIQUITINATION | MEMBER | Proteins - genetics | Proteins - metabolism | Craniosynostoses - genetics | Humans | Adult | Female | Mutation, Missense | Craniosynostoses - metabolism | Intellectual Disability - genetics | Intellectual Disability - metabolism | Ubiquitination | Prader-Willi syndrome | Nonsense mutation | Genes | MAGEL2 gene | Heredity | Genomes | Arthrogryposis | Mutation | Chromosome 15 | Retrograde transport | Heart diseases | Developmental neurobiology | Biologia molecular | Molecular biology | Neurobiologia del desenvolupament
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6. Full Text A de Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
by Urreizti, Roser and Damanti, Sarah and Esteve, Carla and Franco-Valls, Héctor and Castilla-Vallmanya, Laura and Tonda, Raul and Cormand, Bru and Vilageliu, Lluïsa and Opitz, John M and Neri, Giovanni and Grinberg, Daniel and Balcells, Susana
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 694 - 6
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C... 
INTELLECTUAL DISABILITY | PROTEIN | AUTISM | DE-NOVO MUTATIONS | SEVERE SPEECH | LANGUAGE IMPAIRMENT | MULTIDISCIPLINARY SCIENCES | DISEASE | DISORDERS | TRANSCRIPTION FACTOR | FOXP1 | Intellectual disabilities | Mutation | Mutació (Biologia) | Chromosome abnormalities | Mutation (Biology) | Anomalies cromosòmiques
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7. Ground-state charge-transfer interactions in donor:acceptor pairs of organic semiconductors – a spectroscopic study of two representative systems (Electronic supplementary information (ESI) available: Additional information on the preparation and characterization of the SiOx layers on Au via Plasma-Enhanced Chemical Vapor Deposition (PECVD); AFM height-profiles and lock-in phase scans of the DIP:F6TCNNQ films; schematic of a typical setup for PMIRRAS measurements; explanation of the analysis procedure of PMIRRAS data; magnifications of selected peaks in the C=C stretching and C–H bending region for DIP:F6TCNNQ blends, and for pristine DIP selectively grown in a standing-up and lying-down configuration, respectively; DFT simulations of the isolated DIP and F6TCNNQ molecules; FTIR and X-ray scattering data of F6TCNNQ thin films and powder. See DOI: 10.1039/c9cp02939g)
by Giuliano Duva and Paul Beyer and Reinhard Scholz and Valentina Belova and Andreas Opitz and Alexander Hinderhofer and Alexander Gerlach and Frank Schreiber
Physical Chemistry Chemical Physics : PCCP, ISSN 1463-9076, 01/2019, Volume 21, Issue 31, pp. 17190 - 17199
We investigate blended donor:acceptor (D:A) thin films of the two donors diindenoperylene (DIP) and poly(3-hexylthiophene) (P3HT) mixed with the strong... 
Thin films | Organic chemistry | Infrared reflection | Infrared spectroscopy | Spectrum analysis | Donors (electronic) | Organic semiconductors | X ray scattering | Plasma enhanced chemical vapor deposition | Charge transfer | Stretching
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8. Full Text Cation diffusion in La0.6Sr0.4CoO3-delta below 800 degrees C and its relevance for Sr segregation
by Kubicek, M and Rupp, GM and Huber, S and Penn, A and Opitz, AK and Bernardi, J and Stoger-Pollach, M and Hutter, H and Fleig, J
PHYSICAL CHEMISTRY CHEMICAL PHYSICS, ISSN 1463-9076, 2014, Volume 16, Issue 6, pp. 2715 - 2726
Cation diffusion was investigated in La0.6Sr0.4CoO3-delta (LSC) thin films on (100) yttria stabilized zirconia in the temperature range 625-800 degrees C.... 
CATHODE | TRACER DIFFUSION | LAMNO3 | SELF-DIFFUSION | OXYGEN-REDUCTION | LACOO3 | INTERDIFFUSION | PHYSICS, ATOMIC, MOLECULAR & CHEMICAL | CHEMISTRY, PHYSICAL | PEROVSKITE | OXIDES | LAFEO3
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9. Full Text Transcriptional Repression of Hox Genes by C. elegans HP1/HPL and H1/HIS-24
by Studencka, Maja and Wesołowski, Radosław and Opitz, Lennart and Salinas-Riester, Gabriela and Wisniewski, Jacek R and Jedrusik-Bode, Monika
PLoS Genetics, ISSN 1553-7390, 09/2012, Volume 8, Issue 9, p. e1002940
Elucidation of the biological role of linker histone (H1) and heterochromatin protein 1 (HP1) in mammals has been difficult owing to the existence of a least... 
HP1 PROTEINS | LINKER-HISTONE | METHYLATION | GERMLINE | COMPLEX | CAENORHABDITIS-ELEGANS | EVOLUTION | HETEROCHROMATIN | GENETICS & HEREDITY | METHYLTRANSFERASE ACTIVITY | EXPRESSION | Histone-Lysine N-Methyltransferase - genetics | Vulva - cytology | Caenorhabditis elegans - growth & development | Caenorhabditis elegans - genetics | Homeodomain Proteins - metabolism | Caenorhabditis elegans Proteins - metabolism | Male | Tail - growth & development | Chromosomal Proteins, Non-Histone - deficiency | Chromosomal Proteins, Non-Histone - genetics | Vulva - growth & development | Transcription Factors - metabolism | Histones - deficiency | Animals | Histones - genetics | Histone-Lysine N-Methyltransferase - metabolism | Gene Expression Regulation, Developmental | Female | Histones - metabolism | Mutation | Methylation | Caenorhabditis elegans Proteins - genetics | Microbial genetics | Caenorhabditis elegans | Physiological aspects | Genetic aspects | Research | Genetic transcription | Gene expression | Proteins | Nematodes | Genetics
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10. Full Text Targeting HSP90 dimerization via the C terminus is effective in imatinib-resistant CML and lacks the heat shock response
by Bhatia, Sanil and Diedrich, Daniela and Frieg, Benedikt and Ahlert, Heinz and Stein, Stefan and Bopp, Bertan and Lang, Franziska and Zang, Tao and Kröger, Tobias and Ernst, Thomas and Kögler, Gesine and Krieg, Andreas and Lüdeke, Steffen and Kunkel, Hana and Rodrigues Moita, Ana J and Kassack, Matthias U and Marquardt, Viktoria and Opitz, Friederike V and Oldenburg, Marina and Remke, Marc and Babor, Florian and Grez, Manuel and Hochhaus, Andreas and Borkhardt, Arndt and Groth, Georg and Nagel-Steger, Luitgard and Jose, Joachim and Kurz, Thomas and Gohlke, Holger and Hansen, Finn K and Hauer, Julia
Blood, ISSN 0006-4971, 07/2018, Volume 132, Issue 3, pp. 307 - 320
Heat shock protein 90 (HSP90) stabilizes many client proteins, including the BCR-ABL1 oncoprotein. BCR-ABL1 is the hallmark of chronic myeloid leukemia (CML)... 
TYROSINE KINASE INHIBITORS | CELLS | NOVOBIOCIN | CHRONIC-PHASE | MECHANISM | PROTEIN 90 INHIBITORS | DOMAIN MUTATIONS | HEMATOLOGY | EXPRESSION | CANCER-THERAPY | CHRONIC MYELOID-LEUKEMIA | Heat-Shock Response - drug effects | Humans | Molecular Conformation | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy | Structure-Activity Relationship | Biomarkers, Tumor | Protein Kinase Inhibitors - chemistry | HSP90 Heat-Shock Proteins - chemistry | Antineoplastic Agents - pharmacology | Molecular Structure | Protein Interaction Domains and Motifs | Spectrum Analysis | Binding Sites | Disease Models, Animal | Fusion Proteins, bcr-abl - chemistry | Cell Survival - drug effects | Imatinib Mesylate - pharmacology | Models, Molecular | Antineoplastic Agents - chemistry | Imatinib Mesylate - chemistry | Xenograft Model Antitumor Assays | Animals | HSP90 Heat-Shock Proteins - antagonists & inhibitors | Fusion Proteins, bcr-abl - antagonists & inhibitors | Cell Line, Tumor | HSP90 Heat-Shock Proteins - metabolism | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - metabolism | Protein Binding | Mice | Protein Kinase Inhibitors - pharmacology | Cell Cycle - drug effects | Protein Multimerization - drug effects | Drug Resistance, Neoplasm - drug effects | Myeloid Neoplasia
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11. Full Text Capturing the Asc1p/Receptor for Activated C Kinase 1 (RACK1) Microenvironment at the head region of the 40s ribosome with quantitative BioID in Yeast
by Opitz, Nadine and Schmitt, Kerstin and Hofer-Pretz, Verena and Neumann, Bettina and Krebber, Heike and Braus, Gerhard H and Valerius, Oliver
Molecular and Cellular Proteomics, ISSN 1535-9476, 12/2017, Volume 16, Issue 12, pp. 2199 - 2218
The Asc1 protein of Saccharomyces cerevisiae is a scaffold protein at the head region of ribosomal 40S that links mRNA translation to cellular signaling. In... 
UBIQUITIN PROTEASE UBP3 | RNA-POLYMERASE-II | MESSENGER-RNAS | EUKARYOTIC RIBOSOME | CRYSTAL-STRUCTURE | BIOCHEMICAL RESEARCH METHODS | CCR4-NOT COMPLEX | TRANSLATION INITIATION | SCAFFOLD PROTEINS | SACCHAROMYCES-CEREVISIAE | MASS-SPECTROMETRY | Phosphorylation | Transcription factors | Yeast | Ribosomes | Saccharomyces | Kinases | DNA-directed RNA polymerase | Proteins | Signal transduction | Cap-binding protein | Localization | Biodegradation | Translation | Preservation | Translation initiation | Mass spectroscopy | Biotin | Ribonucleic acid--RNA | Clamping | Polymerase | Signaling | Ribosomal proteins | Transduction | In vivo methods and tests | Initiation factor eIF-4E | Mass spectrometry | Saccharomyces cerevisiae | RNA polymerase II | Research
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12. Full Text The C-type lectin receptor mincle binds to streptococcus pneumoniae but plays a limited role in the anti-pneumococcal innate immune response
by Rabes, Anne and Zimmermann, Stephanie and Reppe, Katrin and Lang, Roland and Seeberger, Peter H and Suttorp, Norbert and Witzenrath, Martin and Lepenies, Bernd and Opitz, Bastian
PLoS ONE, ISSN 1932-6203, 02/2015, Volume 10, Issue 2, p. e0117022
The innate immune system employs C-type lectin receptors (CLRs) to recognize carbohydrate structures on pathogens and self-antigens. The Macrophage-inducible... 
CELLS | LIPOTEICHOIC ACID | VIRULENCE FACTORS | RECOGNITION | MARGINAL ZONE | MULTIDISCIPLINARY SCIENCES | CAPSULE | HOST-DEFENSE | COLONIZATION | IDENTIFICATION | ACTIVATING RECEPTOR | Calcium - metabolism | Cytokines - analysis | Pneumonia - pathology | Lectins, C-Type - genetics | Pneumonia - veterinary | Lectins, C-Type - metabolism | Membrane Proteins - deficiency | Streptococcus pneumoniae - chemistry | Streptococcus pneumoniae - metabolism | Membrane Proteins - metabolism | Lectins, C-Type - deficiency | Disease Models, Animal | Recombinant Fusion Proteins - biosynthesis | Enzyme-Linked Immunosorbent Assay | Membrane Proteins - genetics | Mice, Inbred C57BL | Neutrophils - immunology | Cells, Immobilized - metabolism | Recombinant Fusion Proteins - chemistry | Immunity, Innate | Mice, Knockout | Animals | Protein Binding | Recombinant Fusion Proteins - genetics | Mice | Cells, Immobilized - chemistry | Phagocytosis | Pneumonia | Bacterial infections | Bacterial pneumonia | Lectins | Macrophages | Health aspects | Antibacterial agents | Calcium | Biochemistry | Infections | Cord factor | Streptococcus infections | Proteins | Receptors | Deoxyribonucleic acid--DNA | Immune system | Binding | Carbohydrates | Antigens | Immune response | Cytokines | Internal medicine | Neutrophils | Autoantigens | Medicine | Fc receptors | Infectious diseases | Streptococcus | Pharmacy | Binding sites | Viral infections | Calcium ions | Deoxyribonucleic acid | DNA
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13. Full Text Evolocumab and Clinical Outcomes in Patients with Cardiovascular Disease
by Sabatine, Marc S and Giugliano, Robert P and Keech, Anthony C and Honarpour, Narimon and Wiviott, Stephen D and Murphy, Sabina A and Kuder, Julia F and Wang, Huei and Liu, Thomas and Wasserman, Scott M and Sever, Peter S and Pedersen, Terje R and FOURIER Steering Comm Investigator and FOURIER Steering Committee and Investigators
The New England Journal of Medicine, ISSN 0028-4793, 05/2017, Volume 376, Issue 18, pp. 1713 - 1722
In this trial, 27,564 patients with cardiovascular disease and LDL cholesterol levels of 70 mg per deciliter or higher on statin therapy were assigned to... 
MODERATE | MEDICINE, GENERAL & INTERNAL | STATIN THERAPY | LDL-C | REDUCING LIPIDS | PCSK9 INHIBITION | RISK | PLACEBO-CONTROLLED TRIAL | HYPERCHOLESTEROLEMIA | CORONARY-HEART-DISEASE | EZETIMIBE | Atherosclerosis - drug therapy | Double-Blind Method | Follow-Up Studies | Cardiovascular Diseases - drug therapy | Humans | Middle Aged | Antibodies, Monoclonal - adverse effects | Antibodies, Monoclonal - therapeutic use | Male | Hypercholesterolemia - drug therapy | Anticholesteremic Agents - adverse effects | Incidence | Cardiovascular Diseases - complications | Anticholesteremic Agents - therapeutic use | Proprotein Convertase 9 - antagonists & inhibitors | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Cardiovascular Diseases - epidemiology | Cardiovascular Diseases - mortality | Least-Squares Analysis | Cholesterol, LDL - blood | Female | Hypercholesterolemia - complications | Aged | Drug Therapy, Combination | Prevention | Treatment outcome | Cardiovascular diseases | Drug therapy | Analysis | Stroke | Monoclonal antibodies | Cardiovascular disease | Patients | Drug dosages | Low density lipoprotein | Statins | Clinical outcomes | Cholesterol | Life Sciences | Human health and pathology
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