H-JEB is associated with nonsense mutations in the LAM A3, LAMB3
, or LAMC2 genes that result in impaired production of functional laminin 332, an essential protein for epidermal-dermal adherence.
Serves 66-8 medium floury potatoes, peeled and cut into chunksSea salt and freshly ground black pepper2kg leg of lamb3
tbsp olive oil2 bushy sprigs of thyme1 tsp plain flour1 tbsp honey (try thyme honey) FOR HONEY & CIDER GRAVY:1/2 tbsp plain flour250ml dry cider200ml stock1 tsp thyme leavesAbout 11/2 tbsp honey 1 Preheat oven to 220degC/425degF/Gas 7.
A retroviral vector expressing LAMB3
cDNA was used to manufacture genetically modified CEAs for a JEB patient.
JEB has a proven familial predisposition and is caused by mutations in the ITGA6, ITGB4, LAMA3, LAMB3
, LAMC2, and COL17A1 genes .
We also identified a splice acceptor variant in Lamb3
gene, which is associated with blistering of the skin.
Other target genes of miR-218 that have been identified by previous researchers including BMI1, LAMB3
, and LASP1 and the expressions of these genes were associated with the invasion or prognosis in different cancer types [27-29].
Laminin, beta 3 (LAMB3
), a component of laminin-332 in the ECM, is targeted by miR-218.
The cells were transduced using a Moloney leukemia virus-derived retroviral vector that expressed the normal full-length LAMB3
gene found to contain a single point mutation in the patient's genetic profile (Nat.
Genomics of Epidermolysis Bullosa EB Type Level of Blistering Genes Simplex Basal cell layer KRT5, KRT14 Hemidesmosomal Basal cell/lamina BPAG2, ITGB4, ITGA6 lucida interface (PLEC1 with muscular dystrophy) Junctional Lamina lucida LAMA3, LAMB3
, LAMC2 Dystrophic Sublamina densa COL7A1 Source: Dr.