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  1. Article ; Online: Human skin-resident host T cells can persist long term after allogeneic stem cell transplantation and maintain recirculation potential.

    de Almeida, Gustavo P / Lichtner, Peter / Eckstein, Gertrud / Brinkschmidt, Tonio / Chu, Chang-Feng / Sun, Shan / Reinhard, Julian / Mädler, Sophia C / Kloeppel, Markus / Verbeek, Mareike / Zielinski, Christina E

    Science immunology

    2022  Volume 7, Issue 67, Page(s) eabe2634

    Abstract: Tissue-resident memory T cells ( ... ...

    Abstract Tissue-resident memory T cells (T
    MeSH term(s) Female ; Graft vs Host Disease/immunology ; Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Skin/immunology ; T-Lymphocytes/immunology ; Transplantation Conditioning
    Language English
    Publishing date 2022-01-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2470-9468
    ISSN (online) 2470-9468
    DOI 10.1126/sciimmunol.abe2634
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: CORUM: the comprehensive resource of mammalian protein complexes-2019.

    Giurgiu, Madalina / Reinhard, Julian / Brauner, Barbara / Dunger-Kaltenbach, Irmtraud / Fobo, Gisela / Frishman, Goar / Montrone, Corinna / Ruepp, Andreas

    Nucleic acids research

    2018  Volume 47, Issue D1, Page(s) D559–D563

    Abstract: CORUM is a database that provides a manually curated repository of experimentally characterized protein complexes from mammalian organisms, mainly human (67%), mouse (15%) and rat (10%). Given the vital functions of these macromolecular machines, their ... ...

    Abstract CORUM is a database that provides a manually curated repository of experimentally characterized protein complexes from mammalian organisms, mainly human (67%), mouse (15%) and rat (10%). Given the vital functions of these macromolecular machines, their identification and functional characterization is foundational to our understanding of normal and disease biology. The new CORUM 3.0 release encompasses 4274 protein complexes offering the largest and most comprehensive publicly available dataset of mammalian protein complexes. The CORUM dataset is built from 4473 different genes, representing 22% of the protein coding genes in humans. Protein complexes are described by a protein complex name, subunit composition, cellular functions as well as the literature references. Information about stoichiometry of subunits depends on availability of experimental data. Recent developments include a graphical tool displaying known interactions between subunits. This allows the prediction of structural interconnections within protein complexes of unknown structure. In addition, we present a set of 58 protein complexes with alternatively spliced subunits. Those were found to affect cellular functions such as regulation of apoptotic activity, protein complex assembly or define cellular localization. CORUM is freely accessible at http://mips.helmholtz-muenchen.de/corum/.
    MeSH term(s) Alternative Splicing ; Animals ; Databases, Protein ; Humans ; Mice ; Multiprotein Complexes/chemistry ; Multiprotein Complexes/genetics ; Multiprotein Complexes/metabolism ; Protein Conformation ; Protein Interaction Mapping ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Protein Subunits/chemistry ; Protein Subunits/metabolism ; Rats
    Chemical Substances Multiprotein Complexes ; Protein Isoforms ; Protein Subunits
    Language English
    Publishing date 2018-10-17
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gky973
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases.

    Adler, Angela / Kirchmeier, Pia / Reinhard, Julian / Brauner, Barbara / Dunger, Irmtraud / Fobo, Gisela / Frishman, Goar / Montrone, Corinna / Mewes, H-Werner / Arnold, Matthias / Ruepp, Andreas

    Orphanet journal of rare diseases

    2018  Volume 13, Issue 1, Page(s) 22

    Abstract: Background: Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotation of human phenome data can ... ...

    Abstract Background: Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotation of human phenome data can significantly improve the quality and selectivity for the interpretation of inherited diseases. We have therefore developed PhenoDis, a comprehensive, manually annotated database providing symptomatic, genetic and imprinting information about rare cardiac diseases.
    Results: PhenoDis includes 214 rare cardiac diseases from Orphanet and 94 more from OMIM. For phenotypic characterization of the diseases, we performed manual annotation of diseases with articles from the biomedical literature. Detailed description of disease symptoms required the use of 2247 different terms from the Human Phenotype Ontology (HPO). Diseases listed in PhenoDis frequently cover a broad spectrum of symptoms with 28% from the branch of 'cardiovascular abnormality' and others from areas such as neurological (11.5%) and metabolism (6%). We collected extensive information on the frequency of symptoms in respective diseases as well as on disease-associated genes and imprinting data. The analysis of the abundance of symptoms in patient studies revealed that most of the annotated symptoms (71%) are found in less than half of the patients of a particular disease. Comprehensive and systematic characterization of symptoms including their frequency is a pivotal prerequisite for computer based prediction of diseases and disease causing genetic variants. To this end, PhenoDis provides in-depth annotation for a complete group of rare diseases, including information on pathogenic and likely pathogenic genetic variants for 206 diseases as listed in ClinVar. We integrated all results in an online database ( http://mips.helmholtz-muenchen.de/phenodis/ ) with multiple search options and provide the complete dataset for download.
    Conclusion: PhenoDis provides a comprehensive set of manually annotated rare cardiac diseases that enables computational approaches for disease prediction via decision support systems and phenotype-driven strategies for the identification of disease causing genes.
    MeSH term(s) Computational Biology/methods ; Databases, Genetic ; Genetic Variation/genetics ; Genomics/methods ; Heart Diseases/genetics ; Heart Diseases/metabolism ; Heart Diseases/pathology ; Humans ; Phenotype ; Precision Medicine/methods ; Rare Diseases/genetics ; Rare Diseases/metabolism ; Rare Diseases/pathology
    Language English
    Publishing date 2018-01-25
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/s13023-018-0765-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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