The gene panel contains all reported genes related to OI (COL1A1, COL1A2, IFITM5, SERPINF1
, CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, PLOD2, BMP1, C-propeptide cleavage site, SP7/OXS, WNT1, TMEM38B, CREBL1, and PLS3).
For example, the following genes exhibited statistically significant (P<05) modulation early in Zone I and late in Zone II: CDH5, PECAM-1, SERPINF1
, TGFBR1, Endothelial cell growth factor-1 (Ecgfl), Endothelial PAS domain protein-1 (Epasl), Epiregulin (Ereg), Interleukin 12a (1112a), Integrin aV (Itgav), Nudix-type motif 6n (Nudt6), and Tumor necrosis factor ligand superfamily member-12 (Tnfsfl2).
Although OI-3 is rare, studies in affected persons from different parts of the world have revealed causative mutations in several genes: CRTAP, P3H1, FKBP10, PPIB, SERPINH1, SERPINF1
, BMP1, SP7, WNT1, TMEM38B, PLOD2 and CREB3L1.
In addition, the hsa-mir-200c was associated with the IGFBP7, PDLIM3, and SERPINF1
For the SID-MRM analysis, we first synthesized stable-isotope standard (SIS) peptides (>95% purity) for 15 proteins (APLP2, APOA4, APOH, B3GNT1, C4B, C5, C7, CD14, CLU, FN1, GSN, ITIH2, KRT1, SERPINF1
, and VTN).
(7) Other genes, such as ASTN2 and SERPINF1
, have been associated with increased risk of lung adenocarcinoma in never-smokers.
Machann et al., "Common genetic variation in the SERPINF1
locus determines overall adiposity, obesity-related insulin resistance, and circulating leptin levels," PLoS ONE, vol.
Pigment epithelium-derived factor (PEDF), also known as serpin F1 (SERPINF1
), is a multifunctional secreted protein that has antiangiogenic, antitumorigenic, and neurotrophic functions.
(serpin peptidase inhibitor, clade F, [alpha]-2 antiplasmin, pigment epithelium derived factor, member 1), and CD44 were verified in an independent cohort and shown to differentiate patients with AR from other groups.
Pigment epithelium-derived factor (PEDF), also known as Serpin F1 (SERPINF1
), was originally isolated from human fetal retinal pigment epithelial cells and was defined as a potent antiangiogenic factor [1, 2].
In contrast, genes involved in stem cell maintenance, such as cell adhesion molecules, WNT, and Notch-signaling pathway components, CDH1, SERPINF1
, LEF1, FRZB1, KRT19, SOD2, and EGR1, were overexpressed in the limbal crypt .
 Human genes: VWF, von Willebrand factor; LEP, leptin; MMP2, matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase); FBLN1, fibulin 1; FBLN2, fibulin 2; ACTS, actin, beta; CRISPLD2, Cysteine-rich secretory protein LCCL domain containing 2; SERPINF1
, Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1; ITM2A, Integral membrane protein 2A; LEPR, leptin receptor; ZFP36L2, zinc finger protein 36, C3H type-like 2; ELN, elastin.