Molecular aspects of hypohidrotic ectodermal dysplasia

    Forskningsoutput: TidskriftsbidragÖversiktsartikelVetenskapligPeer review

    Sammanfattning

    Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway, respectively. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the Eda pathway that are necessary for the activation of the transcription factor NF-kappa B. Here I present a brief research update on the molecular aspects of this evolutionarily conserved pathway. The developmental role of Eda will be discussed in light of loss- and gain-of-function mouse models with emphasis on the past few years. (C) 2009 Wiley-Liss, Inc.
    Originalspråkengelska
    TidskriftAmerican Journal of Medical Genetics. Part A
    Volym149A
    Utgåva9
    Sidor (från-till)2031-2036
    Antal sidor6
    ISSN1552-4825
    DOI
    StatusPublicerad - 2009
    MoE-publikationstypA2 Granska artikel i en vetenskaplig tidskrift

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    @article{49b3693af0fc40658b067702a6077b9b,
    title = "Molecular aspects of hypohidrotic ectodermal dysplasia",
    abstract = "Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway, respectively. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the Eda pathway that are necessary for the activation of the transcription factor NF-kappa B. Here I present a brief research update on the molecular aspects of this evolutionarily conserved pathway. The developmental role of Eda will be discussed in light of loss- and gain-of-function mouse models with emphasis on the past few years. (C) 2009 Wiley-Liss, Inc.",
    author = "Mikkola, {Marja L}",
    year = "2009",
    doi = "10.1002/ajmg.a.32855",
    language = "English",
    volume = "149A",
    pages = "2031--2036",
    journal = "American Journal of Medical Genetics. Part A",
    issn = "1552-4825",
    publisher = "Wiley",
    number = "9",

    }

    Molecular aspects of hypohidrotic ectodermal dysplasia. / Mikkola, Marja L.

    I: American Journal of Medical Genetics. Part A, Vol. 149A, Nr. 9, 2009, s. 2031-2036.

    Forskningsoutput: TidskriftsbidragÖversiktsartikelVetenskapligPeer review

    TY - JOUR

    T1 - Molecular aspects of hypohidrotic ectodermal dysplasia

    AU - Mikkola, Marja L

    PY - 2009

    Y1 - 2009

    N2 - Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway, respectively. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the Eda pathway that are necessary for the activation of the transcription factor NF-kappa B. Here I present a brief research update on the molecular aspects of this evolutionarily conserved pathway. The developmental role of Eda will be discussed in light of loss- and gain-of-function mouse models with emphasis on the past few years. (C) 2009 Wiley-Liss, Inc.

    AB - Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway, respectively. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the Eda pathway that are necessary for the activation of the transcription factor NF-kappa B. Here I present a brief research update on the molecular aspects of this evolutionarily conserved pathway. The developmental role of Eda will be discussed in light of loss- and gain-of-function mouse models with emphasis on the past few years. (C) 2009 Wiley-Liss, Inc.

    U2 - 10.1002/ajmg.a.32855

    DO - 10.1002/ajmg.a.32855

    M3 - Review Article

    VL - 149A

    SP - 2031

    EP - 2036

    JO - American Journal of Medical Genetics. Part A

    JF - American Journal of Medical Genetics. Part A

    SN - 1552-4825

    IS - 9

    ER -