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COL7A1 encodes the alpha chain of type VII collagen. Additionally we are shipping COL7A1 Antibodies (19) and many more products for this protein.
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Study provides evidence that a nonsense mutation in the COL7A1 gene causes recessive epidermolysis bullosa in Vorderwald and Rotes Hohenvieh cattle.
The identified mutation causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*). We thus have identified a candidate causative
In summary, we present 7 novel COL7A1 mutations in a cohort of 17 Mexican RDEB patients, expanding the mutation spectrum in this disease.
Case Report: Epidermolysis ullosa acquisita with previously unrecognized mild dystrophic EB and biallelic COL7A1 missense mutations.
Mutation in COL7A1 gene is associated with Recessive Dystrophic Epidermolysis Bullosa.
High chimeric COL7A1-UCN2 (show UTS2 ELISA Kits) recurrence is associated with cancer stem cell transition, promoted epithelial-mesenchymal transition in laryngeal cancer.
three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens.
Type VII (show TH ELISA Kits) collagen is distributed particularly at the strained parts of the accommodation system. Type VII (show TH ELISA Kits) collagen was associated with various basement membranes and with ciliary zonules.
specifically binds and sequesters the innate immune activator cochlin (show COCH ELISA Kits) in the lumen of lymphoid conduits
COL7A1 editing via CRISPR/Cas9 in recessive dystrophic epidermolysis bullosa patients' keratinocytes in vitro has been reported.
Patients with RDEB carry mutations in the COL7A1 gene encoding for type VII (show TH ELISA Kits) collagen, the main component of anchoring fibrils, microstructures responsible for the anchorage of the epidermis to the underlying dermis. [review]
we have identified a novel glycine substitution mutation of the COL7A1 gene in two unrelated Scottish families with a DDEB phenotype. This mutation abolishes the donor splice site and results in in-frame exon skipping. This leads to dominant negative interference between the wild-type and truncated-type collagen proteins resulting in a mild phenotype.
miR (show MLXIP ELISA Kits)-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 (show SP1 ELISA Kits)
The cystine knot is N-terminal to the collagen triple helix in in collagen type VII (show TH ELISA Kits) and IX and therefore probably impedes unfolding of the collagen triple helix from the N terminus.
COL7A1 is required for re-epithelialization through organization of laminin-332 at the dermal-epidermal junction during wound healing.
Tissue-bound, but not circulating, complement-fixing COL7-specific autoantibodies are associated with T helper type (Th)1 (show TH1L ELISA Kits) cell type cytokine expression and response in mice seusceptible to epidermolysis bullosa acquisita.
An interaction of mvWFA2 with its neighboring domain mFNIII-9 was characterized with NMR spectroscopy and SPR
transforming growth factor beta1 stimulation of Col7a1 transcription is dependent on a putative interaction between Smads and AP1 (show JUN ELISA Kits).
single amino acid substitutions in procollagen VII (show TH ELISA Kits) alter its self-assembly
All mice developed circulating IgG autoantibodies that recognized type VII (show TH ELISA Kits) collagen and bound to the lamina densa of the dermal-epidermal junction[type VII (show TH ELISA Kits) collagen]
Results describe the generation of a collagen VII (show TH ELISA Kits) alpha 1 hypomorphic mouse that serves as an immunocompetent animal model for dystrophic epidermolysis bullosa.
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.
collagen alpha-1(VII) chain
, collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
, collagen, type VII, alpha 1
, alpha 1 type VII collagen
, collagen alpha-1(VII) chain-like
, LC collagen
, collagen VII, alpha-1 polypeptide
, long-chain collagen
, procollagen, type VII, alpha 1