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  1. Article: FMRP regulates tangential neuronal migration via MAP1B.

    Messaoudi, Salima / Allam, Ada / Stoufflet, Julie / Paillard, Théo / Fouquet, Coralie / Doulazmi, Mohamed / Le Ven, Anaïs / Trembleau, Alain / Caillé, Isabelle

    bioRxiv : the preprint server for biology

    2023  

    Abstract: The Fragile X Syndrome (FXS) represents the most prevalent form of inherited intellectual disability and is the first monogenic cause of Autism Spectrum Disorder. FXS results from the absence of the RNA-binding protein FMRP (Fragile X Messenger ... ...

    Abstract The Fragile X Syndrome (FXS) represents the most prevalent form of inherited intellectual disability and is the first monogenic cause of Autism Spectrum Disorder. FXS results from the absence of the RNA-binding protein FMRP (Fragile X Messenger Ribonucleoprotein). Neuronal migration is an essential step of brain development allowing displacement of neurons from their germinal niches to their final integration site. The precise role of FMRP in neuronal migration remains largely unexplored. Using live imaging of postnatal Rostral Migratory Stream (RMS) neurons in Fmr1-null mice, we observed that the absence of FMRP leads to delayed neuronal migration and altered trajectory, associated with defects of centrosomal movement. RNA-interference-induced knockdown of
    Language English
    Publishing date 2023-12-28
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.03.06.530447
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Divergent local and systemic antitumor response in primary uveal melanomas.

    Lucibello, Francesca / Lalanne, Ana I / Le Gac, Anne-Laure / Soumare, Abdoulaye / Aflaki, Setareh / Cyrta, Joanna / Dubreuil, Lea / Mestdagh, Martin / Salou, Marion / Houy, Alexandre / Ekwegbara, Christina / Jamet, Camille / Gardrat, Sophie / Le Ven, Anais / Bernardeau, Karine / Cassoux, Nathalie / Matet, Alexandre / Malaise, Denis / Pierron, Gaelle /
    Piperno-Neumann, Sophie / Stern, Marc-Henri / Rodrigues, Manuel / Lantz, Olivier

    The Journal of experimental medicine

    2024  Volume 221, Issue 6

    Abstract: Uveal melanoma (UM) is the most common cancer of the eye. The loss of chromosome 3 (M3) is associated with a high risk of metastases. M3 tumors are more infiltrated by T-lymphocytes than low-risk disomic-3 (D3) tumors, contrasting with other tumor types ... ...

    Abstract Uveal melanoma (UM) is the most common cancer of the eye. The loss of chromosome 3 (M3) is associated with a high risk of metastases. M3 tumors are more infiltrated by T-lymphocytes than low-risk disomic-3 (D3) tumors, contrasting with other tumor types in which T cell infiltration correlates with better prognosis. Whether these T cells represent an antitumor response and how these T cells would be primed in the eye are both unknown. Herein, we characterized the T cells infiltrating primary UMs. CD8+ and Treg cells were more abundant in M3 than in D3 tumors. CD39+PD-1+CD8+ T cells were enriched in M3 tumors, suggesting specific responses to tumor antigen (Ag) as confirmed using HLA-A2:Melan-A tetramers. scRNAseq-VDJ analysis of T cells evidenced high numbers of proliferating CD39+PD1+CD8+ clonal expansions, suggesting in situ antitumor Ag responses. TCRseq and tumor-Ag tetramer staining characterized the recirculation pattern of the antitumor responses in M3 and D3 tumors. Thus, tumor-Ag responses occur in localized UMs, raising the question of the priming mechanisms in the absence of known lymphatic drainage.
    MeSH term(s) Humans ; Melanoma/therapy ; Uveal Neoplasms ; CD8-Positive T-Lymphocytes ; Drainage
    Language English
    Publishing date 2024-04-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 218343-2
    ISSN 1540-9538 ; 0022-1007
    ISSN (online) 1540-9538
    ISSN 0022-1007
    DOI 10.1084/jem.20232094
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

    Villy, Marie-Charlotte / Le Ven, Anaïs / Le Mentec, Marine / Masliah-Planchon, Julien / Houy, Alexandre / Bièche, Ivan / Vacher, Sophie / Vincent-Salomon, Anne / Dubois d'Enghien, Catherine / Schwartz, Mathias / Piperno-Neumann, Sophie / Matet, Alexandre / Malaise, Denis / Bubien, Virginie / Lortholary, Alain / Ait Omar, Amal / Cavaillé, Mathias / Stoppa-Lyonnet, Dominique / Cassoux, Nathalie /
    Stern, Marc-Henri / Rodrigues, Manuel / Golmard, Lisa / Colas, Chrystelle

    Journal of the National Cancer Institute

    2023  Volume 116, Issue 4, Page(s) 580–587

    Abstract: Background: Monoallelic germline MBD4 pathogenic variants were recently reported to cause a predisposition to uveal melanoma, associated with a specific tumor mutational signature and good response to immunotherapy. Monoallelic tumor pathogenic variants ...

    Abstract Background: Monoallelic germline MBD4 pathogenic variants were recently reported to cause a predisposition to uveal melanoma, associated with a specific tumor mutational signature and good response to immunotherapy. Monoallelic tumor pathogenic variants have also been described in brain tumors, breast cancers, and myxofibrosarcomas, whereas biallelic germline MBD4 pathogenic variants have been involved in a recessive hereditary adenomatous polyposis and a specific type of acute myeloid leukemia.
    Methods: We analyzed MBD4 for all patients with a diagnosis of uveal melanoma at Institut Curie since July 2021 and in the 3240 consecutive female probands explored at the Institut Curie for suspicion of predisposition to breast cancer between July 2021 and February 2023.
    Results: We describe 25 families whose probands carry a monoallelic germline pathogenic variant in MBD4. Eighteen of these families presented with uveal melanoma (including a case patient with multiple uveal melanoma), and 7 families presented with breast cancer. Family histories showed the first familial case of uveal melanoma in monoallelic MBD4 pathogenic variant carriers and other various types of cancers in relatives, especially breast, renal, and colorectal tumors.
    Conclusions: Monoallelic MBD4 pathogenic variant may explain some cases of familial and multiple uveal melanoma as well as various cancer types, expanding the tumor spectrum of this predisposition. Further genetic testing in relatives combined with molecular tumor analyses will help define the tumor spectrum and estimate each tumor's risk.
    MeSH term(s) Humans ; Adult ; Female ; Genetic Predisposition to Disease ; Melanoma/epidemiology ; Melanoma/genetics ; Melanoma/pathology ; Skin Neoplasms/epidemiology ; Skin Neoplasms/genetics ; Germ-Line Mutation ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Endodeoxyribonucleases/genetics ; Uveal Neoplasms
    Chemical Substances MBD4 protein, human (EC 3.1.-) ; Endodeoxyribonucleases (EC 3.1.-)
    Language English
    Publishing date 2023-12-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2992-0
    ISSN 1460-2105 ; 0027-8874 ; 0198-0157
    ISSN (online) 1460-2105
    ISSN 0027-8874 ; 0198-0157
    DOI 10.1093/jnci/djad248
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Uh III Zs.131: Show issues Location:
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