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COL7A1 encodes the alpha chain of type VII collagen.
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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
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 (zeige 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.
Case Report: glycine substitution specific to COL7A1, exon 110, was identified in a Chinese family with epidermolysis bullosa pruriginosa.
COL7A1 harbored mutations in the overwhelming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were consistent with autosomal recessive inheritance. Ninety percent of these mutations were homozygous recessive, reflecting consanguinity in these families.
miR (zeige 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 (zeige PSG1 ELISA Kits).
A total of 50% of the pro-alpha1 (VII (zeige TH ELISA Kits)) procollagen chains will contain the dominant COL7A1 mutation if a DDEB patient carries one mutant COL7A1 in 100% of skin cells, which will lead to dystrophic epidermolysis bullosa
The results in these two brothers show that COL7A1 mutation leads to persistent blistering in adulthood indicating that DEB may persist throughout life in a mild form.
This study is conducive to highlighting the phenotypic diversity of EBP (zeige EBP ELISA Kits), expanding the database on COL7A1 mutations in EBP (zeige EBP ELISA Kits) and laying the foundation for this family's prenatal genetic counselling.
TANGO1 (zeige MIA3 ELISA Kits) is thus pivotal in concentrating procollagen VII (zeige TH ELISA Kits) in the lumen and recruiting ERGIC membranes on the cytoplasmic surface of the endoplasmic reticulum.
miR (zeige 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 (zeige SP1 ELISA Kits)
The cystine knot is N-terminal to the collagen triple helix in in collagen type VII (zeige 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 (zeige 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 (zeige JUN ELISA Kits).
single amino acid substitutions in procollagen VII (zeige TH ELISA Kits) alter its self-assembly
All mice developed circulating IgG autoantibodies that recognized type VII (zeige TH ELISA Kits) collagen and bound to the lamina densa of the dermal-epidermal junction[type VII (zeige TH ELISA Kits) collagen]
Results describe the generation of a collagen VII (zeige 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