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5q31 lokusundaki keratoepitelin proteinini kodlayan TGFBI genindeki mutasyonlat granuler distrofi tip 1, lattis distrofisi tip 1, Avellino distrofisi ve Reis- Bucklers distrofisi gibi dominant kalitim gosteren kornea distrofilerine neden olabilir.
In vitro studies proved that the material activates latent TGFBi (a potent enhancer of cell metabolism in vivo) at 7.5 mm lipospondin concentration.
In the first case study we end up with the marker genes for (i) the proliferation activity composed of 12 genes, CDC20, TK1, KNL1, CENPE, STIL, ANLN, NDC1, NUF2, KIF20A, PLK4, CCNB1, and CCNA2, and (ii) the quiescence state composed of 12 genes: COL5A1, TGFBI, TCEA2, WNT9A, MMP11, LAMB1, KRT14, LTBP1, PHLDB1, TIMP3, LRP1, and COL18A1.
Results indicate that 5 VKD proteins that are required for coagulation had critical functions (knockouts were embryonic lethal), whereas the knockouts of 5 less critical VKD proteins [osteocalcin, matrix Gla protein (Mgp), growth arrest specific protein 6, transforming growth factor beta-inducible protein (Tgfbi or betaig-h3), and periostin] survived at least through weaning.
Protein levels in the MSC and LEC coculture medium were measured using enzymelinked immunosorbent assay (ELISA) kits: human KGF quantikine ELISA kit (DKG00, R&D Systems, Minneapolis, MN, USA), human [beta] IG H3 ELISA kit (TGFBI) (ab155426; Abcam), human EGF ELISA kit (ELH-EGF-001, THP; RayBiotech, Vienna, Austria), and human NGF-[beta] ELISA kit (K0331220; Koma Biotech, Seoul, Republic of Korea).
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- TGF-beta-activated kinase 1
- TGF-beta-related neurotrophic factor receptor 1
- TGF-beta-stimulated factor 1
- TGF-beta/activin signal transducer
- TGFB inducible early growth response
- TGFB-inducible early growth response 2
- TGFB-inducible early growth response protein 1
- TGFB-inducible early growth response protein 2
- TGFbeta Activated Kinase 1