...FBN1 ΔE = +0.82, LRRTM4 ΔE = -0.71). A 12-gene panel (including PXDNL) was derived from 113 ML algorithm benchmark (plsR...
...FBN1, MYH11, COL11A1, SMAD3, SMAD6, ACTA2, COL3A1, FLNA, PKD2, THSD4, ACVRL1, and FBN2. A total of 27 patients (20.1%) h...
...FBN1 mutation (c.6410G > C; p.Cys2137Ser), fulfilling revised Ghent criteria. The patient was discharged on postoperativ...
...FBN1, COL15A1, and LOX—were identified as significantly associated with immune cell infiltration, particularly macrophag...
...FBN1), fibrillin-2 (FBN2), and latent transforming growth factor beta-binding protein 1 (LTBP1). Poglut2/3 double knocko...
...FBN1 gene, which carries a high risk of cardiovascular morbidity and mortality. We present the case of a 31-year-old man...
...FBN1 pathogenic variant, who underwent a complete CT-scan were included and matched 1:1 with controls. The conventional ...
...FBN1), Transforming Growth Factor Beta Receptor 1/2 (TGFBR1/2), Actin Alpha 2 (ACTA 2), and Myosin Heavy Chain 11 (MYH11...
...Fbn1 (p < 0.001). Our study reveals substantial alterations in TET1 expression and m5C modification in myopic sclera, pr...
...FBN1 variants (2006-2024). Variants were classified by molecular mechanism (premature termination codon [PTC] variants v...
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