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    Col7a1 collagen, type VII, alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 12836, updated on 28-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells.

    Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells.
    Matsuda A, Hasegawa T, Ikeda Y, Wada A, Ikeda S.

    08/16/2024
    Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

    Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
    Hong SA, Kim SE, Lee AY, Hwang GH, Kim JH, Iwata H, Kim SC, Bae S, Lee SE., Free PMC Article

    08/13/2022
    Biophysical characterization of a pathogenic type VII collagen mutant is presented. The pathogenic mutant lowers thermal stability of the type VII collagen domain. Due to unfolding, protease cleavage sites in the domain become accessible.

    A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - Implications for the pathogenesis of recessive dystrophic epidermolysis bullosa?
    Windler C, Hermsdorf U, Brinckmann J, Seeger K.

    12/22/2018
    specifically binds and sequesters the innate immune activator cochlin in the lumen of lymphoid conduits

    Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa.
    Nyström A, Bornert O, Kühl T, Gretzmeier C, Thriene K, Dengjel J, Pfister-Wartha A, Kiritsi D, Bruckner-Tuderman L., Free PMC Article

    07/21/2018
    miR-29 Regulates COL7A1 in Recessive Dystrophic Epidermolysis Bullosa, directly through targeting its 3' untranslated region at two distinct seed regions and indirectly through targeting an essential transcription factor required for basal COL7A1 expression, SP1

    miR-29 Regulates Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa.
    Vanden Oever M, Muldoon D, Mathews W, McElmurry R, Tolar J., Free PMC Article

    06/24/2017
    autoantibodies to COL7, independent of the targeted epitopes, induce blisters both ex vivo and in vivo

    Autoantibodies to Multiple Epitopes on the Non-Collagenous-1 Domain of Type VII Collagen Induce Blisters.
    Vorobyev A, Ujiie H, Recke A, Buijsrogge JJA, Jonkman MF, Pas HH, Iwata H, Hashimoto T, Kim SC, Hoon Kim J, Groves R, Samavedam U, Gupta Y, Schmidt E, Zillikens D, Shimizu H, Ludwig RJ.

    08/1/2015
    The cystine knot is N-terminal to the collagen triple helix in in collagen type VII and IX and therefore probably impedes unfolding of the collagen triple helix from the N terminus.

    The cysteine-rich region of type VII collagen is a cystine knot with a new topology.
    Wegener H, Paulsen H, Seeger K., Free PMC Article

    04/26/2014
    COL7A1 is required for re-epithelialization through organization of laminin-332 at the dermal-epidermal junction during wound healing.

    Collagen VII plays a dual role in wound healing.
    Nyström A, Velati D, Mittapalli VR, Fritsch A, Kern JS, Bruckner-Tuderman L., Free PMC Article

    10/26/2013
    COL7 regulates ameloblast differentiation and is essential for the formation of Tomes' processes.

    Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts.
    Umemoto H, Akiyama M, Domon T, Nomura T, Shinkuma S, Ito K, Asaka T, Sawamura D, Uitto J, Uo M, Kitagawa Y, Shimizu H.

    03/23/2013
    Tissue-bound, but not circulating, complement-fixing COL7-specific autoantibodies are associated with T helper type (Th)1 cell type cytokine expression and response in mice seusceptible to epidermolysis bullosa acquisita.

    Complement-fixing anti-type VII collagen antibodies are induced in Th1-polarized lymph nodes of epidermolysis bullosa acquisita-susceptible mice.
    Hammers CM, Bieber K, Kalies K, Banczyk D, Ellebrecht CT, Ibrahim SM, Zillikens D, Ludwig RJ, Westermann J.

    01/14/2012
    An interaction of mvWFA2 with its neighboring domain mFNIII-9 was characterized with NMR spectroscopy and SPR

    Insight into interactions of the von-Willebrand-factor-A-like domain 2 with the FNIII-like domain 9 of collagen VII by NMR and SPR.
    Leineweber S, Schönig S, Seeger K.

    09/10/2011
    All mice developed circulating IgG autoantibodies that recognized type VII collagen and bound to the lamina densa of the dermal-epidermal junction[type VII collagen]

    Induction of complement-fixing autoantibodies against type VII collagen results in subepidermal blistering in mice.
    Sitaru C, Chiriac MT, Mihai S, Büning J, Gebert A, Ishiko A, Zillikens D.

    01/21/2010
    Results describe the generation of a collagen VII alpha 1 hypomorphic mouse that serves as an immunocompetent animal model for dystrophic epidermolysis bullosa.

    A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy.
    Fritsch A, Loeckermann S, Kern JS, Braun A, Bösl MR, Bley TA, Schumann H, von Elverfeldt D, Paul D, Erlacher M, Berens von Rautenfeld D, Hausser I, Fässler R, Bruckner-Tuderman L., Free PMC Article

    01/21/2010
    transforming growth factor beta1 stimulation of Col7a1 transcription is dependent on a putative interaction between Smads and AP1.

    Transcriptional control of the mouse Col7a1 gene in keratinocytes: basal and transforming growth factor-beta regulated expression.
    Naso M, Uitto J, Klement JF.

    01/21/2010
    single amino acid substitutions in procollagen VII alter its self-assembly

    Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils.
    Brittingham R, Colombo M, Ito H, Steplewski A, Birk DE, Uitto J, Fertala A.

    01/21/2010
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