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  1. Article ; Online: Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations

    Mbarka Bchetnia / Laurie Martineau / Véronique Racine / Julie Powell / Catherine McCuaig / Charles Morin / Audrey Dupérée / François Gros-Louis / Catherine Laprise

    Stem Cell Research, Vol 60, Iss , Pp 102726- (2022)

    2022  

    Abstract: Heterozygous mutations within Keratin 5 (KRT5) are common genetic causes of epidermolysis bullosa simplex (EBS), a skin fragility disorder characterized by blisters, which appear after minor trauma. Using CytoTune®Sendai virus, we generated three human ... ...

    Abstract Heterozygous mutations within Keratin 5 (KRT5) are common genetic causes of epidermolysis bullosa simplex (EBS), a skin fragility disorder characterized by blisters, which appear after minor trauma. Using CytoTune®Sendai virus, we generated three human induced pluripotent stem cell (iPSC) lines from three EBS patients carrying respectively the single heterozygous mutations in KRT5, c.449 T > C, c.980 T > C, and c.608 T > C. All lines display normal karyotype, expressed high levels of pluripotent markers, and can differentiate into derivatives of the three germ layers. These iPSCs are helpful for a better understanding of the EBS pathogenesis and developing novel therapeutic approaches.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2022-04-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  2. Article ; Online: Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations

    Mbarka Bchetnia / Laurie Martineau / Véronique Racine / Julie Powell / Catherine McCuaig / Charles Morin / Audrey Dupérée / François Gros-Louis / Catherine Laprise

    Stem Cell Research, Vol 61, Iss , Pp 102750- (2022)

    2022  

    Abstract: More than 107 pathogenic variations were identified in Keratin 14 gene (KRT14) in patients affected by epidermolysis bullosa simplex (EBS), a rare skin disease with still no curative treatment. Disease models as human induced pluripotent stem cells ( ... ...

    Abstract More than 107 pathogenic variations were identified in Keratin 14 gene (KRT14) in patients affected by epidermolysis bullosa simplex (EBS), a rare skin disease with still no curative treatment. Disease models as human induced pluripotent stem cells (hiPSCs) are promising tool for further advance the knowledge about this disorder and accelerate therapies development. Here, two hiPSC lines were reprogrammed from skin fibroblasts of two EBS patients carrying mutations within KRT14 by using CytoTune®Sendai virus. These iPSCs display pluripotent cell morphology, pluripotent markers expression, and the capability to differentiate into the three germ layers.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2022-05-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Article ; Online: Pernio as the clinical presentation of celiac disease

    Alexandre Lemieux / Natasha Emily Sanchez Vivas / Julie Powell / Prévost Jantchou / Marie-Paule Morin

    SAGE Open Medical Case Reports, Vol

    A case report

    2020  Volume 8

    Abstract: We present the case of a 12-year-old girl with severe pernio as the sole clinical presentation of celiac disease (CD), without associated gastrointestinal symptoms. Lesions greatly improved once a gluten free diet was initiated. At 5-year follow-up, she ... ...

    Abstract We present the case of a 12-year-old girl with severe pernio as the sole clinical presentation of celiac disease (CD), without associated gastrointestinal symptoms. Lesions greatly improved once a gluten free diet was initiated. At 5-year follow-up, she remains in clinical remission throughout the year with no pharmacological treatment, without skin lesions flare-up in the winter months.
    Keywords Medicine (General) ; R5-920
    Language English
    Publishing date 2020-07-01T00:00:00Z
    Publisher SAGE Publishing
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Article ; Online: Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene

    Mbarka Bchetnia / Laurie Martineau / Véronique Racine / Julie Powell / Catherine McCuaig / Jack Puymirat / Catherine Laprise

    Stem Cell Research, Vol 44, Iss , Pp - (2020)

    2020  

    Abstract: We have generated UQACi001-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a male patient with the generalized severe epidermolysis bullosa simplex phenotype (EBS-gen sev) and carrying the keratin 14 (K14) R125S ... ...

    Abstract We have generated UQACi001-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a male patient with the generalized severe epidermolysis bullosa simplex phenotype (EBS-gen sev) and carrying the keratin 14 (K14) R125S mutation. Fibroblasts were reprogrammed using non-integrating Sendai virus vectors. The iPSC line displayed normal molecular karyotype, expressed pluripotency markers, is capable of differentiating into three embryonic germ layers and is genetically identical to the originating parental fibroblasts. The established iPSC model provides a valuable resource for studying the rare disease of epidermolysis bullosa simplex and developing new therapies as DNA editing by CRISPR/Cas9 technology.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2020-04-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

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