LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 2 of total 2

Search options

  1. Article ; Online: A

    Abu Shtaya, Aasem / Kedar, Inbal / Bazak, Lily / Basel-Salmon, Lina / Barhom, Sarit Farage / Naftali, Michal / Eskin-Schwartz, Marina / Birk, Ohad S / Polager-Modan, Shirley / Keidar, Nitzan / Reznick Levi, Gili / Levi, Zohar / Yablonski-Peretz, Tamar / Mahamid, Ahmad / Segol, Ori / Matar, Reut / Bareli, Yifat / Azoulay, Noy / Goldberg, Yael

    Genes

    2024  Volume 15, Issue 3

    Abstract: POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in ... ...

    Abstract POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in the
    MeSH term(s) Male ; Humans ; Female ; Adult ; Middle Aged ; Aged ; Melanoma/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Telomere-Binding Proteins/genetics ; Skin Neoplasms/genetics ; Thyroid Neoplasms ; Shelterin Complex
    Chemical Substances Telomere-Binding Proteins ; POT1 protein, human ; Shelterin Complex
    Language English
    Publishing date 2024-03-13
    Publishing country Switzerland
    Document type Review ; Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes15030355
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

    Rechavi, Erez / Lev, Atar / Eyal, Eran / Barel, Ortal / Kol, Nitzan / Barhom, Sarit Farage / Pode-Shakked, Ben / Anikster, Yair / Somech, Raz / Simon, Amos J

    Journal of clinical immunology

    2016  Volume 36, Issue 8, Page(s) 801–809

    Abstract: Purpose: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also ... ...

    Abstract Purpose: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also develops in some patients. We sought to further investigate the immune defect in an ICF patient with a novel missense mutation in DNMT3B and a severe phenotype.
    Methods: Patient lymphocytes were examined for subset counts, immunoglobulin levels, T and B cell de novo production (via excision circles) and receptor repertoire diversity. Mutated DNMT3B protein structure was modeled to assess the effect of a mutation located outside of the catalytic region on protein function.
    Results: A novel homozygous missense mutation, Ala585Thr, was found in DNMT3B. The patient had decreased B cell counts with hypogammaglobulinemia, and normal T cell counts. CD4
    Conclusions: Our results highlight the existence of a T cell defect that develops over time in ICF patient, in addition to the known B cell dysfunction. With intravenous immunoglobulin (IVIG) treatment ameliorating the B cell defect, the extent of CD4
    MeSH term(s) B-Lymphocytes/immunology ; CD4-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/immunology ; Centromere/genetics ; Child, Preschool ; Chromosomal Instability/genetics ; Chromosomal Instability/immunology ; DNA (Cytosine-5-)-Methyltransferases/genetics ; Face/abnormalities ; Female ; Humans ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/immunology ; Infant ; Male ; Mutation, Missense/genetics ; Phenotype ; DNA Methyltransferase 3B
    Chemical Substances DNA (Cytosine-5-)-Methyltransferases (EC 2.1.1.37)
    Language English
    Publishing date 2016-10-12
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-016-0340-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1640: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top