JEB has a proven familial predisposition and is caused by mutations in the ITGA6
, ITGB4, LAMA3, LAMB3, LAMC2, and COL17A1 genes .
The target genes were selected for further validation with qRT-PCR, and we found that the mRNA expression of 8 genes (PSMB5, ITGA6
, MYCBP2, TCF7L2, UBE2V2, HIPK1, UBE2D2, and KANSL1) were downregulated in Adv-infected patients compared to healthy controls (Figure 5).
For the qRT-PCR of human COL4A3, ITGA6
, and ITGB1, one microgram of total RNA was reverse transcribed into cDNA (ImProm 11 Reverse Transcription System, A3800, Promega, Madison, WI) with Oligo(dT) 15 Primer following manufacturer's instructions.
(148) The miR-29s also target adhesion molecule integrin, alpha 6 (ITGA6
The lens expresses the laminin receptors [alpha]6[beta]1, [alpha]6[beta]4, and integrin and mice lacking either both the itga3 and itga6
or itgb1 genes from the lens develop profound lens abnormalities including loss of the lens epithelium and fiber cell defects [5, 65-67].
Probe set ID Gene symbol Control G418 ATSE 7983763 MAPK6 233 314 382 8046380 ITGA6
216 323 385 8051670 SOS1 291 386 520 8084963 PAK2 173 252 360 8090162 ITGB5 330 357 220 8111915 SEPP1 3337 2847 1761 Probe set ID 1/2(G418 + ATSE) ATSE/control 7983763 405 1.64 8046380 220 1.78 8051670 515 1.79 8084963 338 2.08 8090162 150 -1.50 8111915 1131 -1.87 G418 (0.45 mg/mL); ATSE: Akebia trifoliate seed extract (0.625 mg/mL); 1/2(G418 + ATSE): a combination of half dose of each accordingly.
Interestingly, several genes were differentially up-regulated by DDT compared with [E.sub.2], including Fas ligand (FASLG), integrin alpha 6 (ITGA6
), and vascular endothelial growth factor A [VEGFA; an important factor in cellular angiogenic control mechanisms and differentiation (Zhang et al.
Another gene called ITGA6
that is important for cell growth, movement and survival could also be a potential drug target.
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.
Endochondral Actin Focal TGF[beta] MAPK ossification cytoskeleton adhesion signaling signaling FGF2 FGF1 ITGA6
UCHL5 STMN1 TGFB2 FGF2 STYK1 CDC2 DUSP1 PLAT FGF5 CAV1 SMURF2 TRAF2 CALM1 FGF22 CAV2 NEDD9 BDNF ADAMTS1 KRAS CAV3 STAMBPL1 MAP3K5 OPG NRAS LAMC2 CCNB2 ACVR1C C11orf13 THBS1 RBL1 KRAS F2R PXN MAPK8 TGFB2 CRK RHOB PARD6A NRAS PAK1 PDPK1 CAV1 PPP5C ARHGEF7 MYLK2 TFDP1 PAK1 VIL2 PAK1 KLF6 CRK PXN MAPK8 FST MAPK8 BCL2 SERPINE1 CCND3 THBS1 CRK NOG HRAS Table 3: Genes involved in adipogenesis-related pathways that are upregulated in CYD-treated hMSCs.
From the genes that are upregulated in female and downregulated in male mice, we found that more than 20 genes (Cp, Vdr, Pah, Nox4, Cyp2e1, Cyp1a2, Mef2c, F5, Pon1, Itga6
, Umod, Pso, Umod, Rgs5, Hamp, Pter, Cyp2c29, Cyp3a11, Aip-1, Bhmt, Fbp1, Prkg2, Sult1a1, Scp2, Slc10a1, G6pc, Ass1, and Kap) are connected to collagen.
Additionally, mild attenuation of ITGA2 and ITGA6
expression was observed in the Npnt-treated group.