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In silico virtual knockout identifies PXDNL as a fibroblast-specific driver o...

Cui(W) Biochem Biophys Res Commun 2026-06-11

...FBN1 ΔE = +0.82, LRRTM4 ΔE = -0.71). A 12-gene panel (including PXDNL) was derived from 113 ML algorithm benchmark (plsR...

Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thora...

Lee(H),Kim(Y),Kim(MS),Lee(KA),Song(SW) Interdiscip Cardiovasc Thor... 2026-05-05

...FBN1, MYH11, COL11A1, SMAD3, SMAD6, ACTA2, COL3A1, FLNA, PKD2, THSD4, ACVRL1, and FBN2. A total of 27 patients (20.1%) h...

Extracorporeal circulation management for stanford type a aortic dissection c...

Yang(X),Kumar(M),Jiang(L),Shi(H),Wang(B) J Cardiothorac Surg 2026-04-19

...FBN1 mutation (c.6410G > C; p.Cys2137Ser), fulfilling revised Ghent criteria. The patient was discharged on postoperativ...

Identification and regulatory mechanism analysis of macrophage-related key ge...

Wang(H),Zhang(L),Shi(B),Li(H),Liu(Y),Zhu(L... Diabetol Metab Syndr 2026-04-02

...FBN1, COL15A1, and LOX—were identified as significantly associated with immune cell infiltration, particularly macrophag...

POGLUT2 and POGLUT3: Two essential protein O-glucosyltransferases modifying E...

Kegley(NR),Holdener(BC),Haltiwanger(RS) Biochim Biophys Acta Gen Su... 2026-06-00

...FBN1), fibrillin-2 (FBN2), and latent transforming growth factor beta-binding protein 1 (LTBP1). Poglut2/3 double knocko...

Beyond the Aorta: Incidental Atrial Septal Defect in a Patient With Marfan Sy...

Medina Santos(FJ),Pérez Figueroa(JE),Bonil... Cureus 2026-03-00

...FBN1 gene, which carries a high risk of cardiovascular morbidity and mortality. We present the case of a 31-year-old man...

New CT-based dural ectasia criteria using machine learning to diagnose Marfan...

Bouleti(C),Thuillier(R),Moeuf(Y),Suc(G),Go... Eur Heart J Imaging Methods... 2026-01-00

...FBN1 pathogenic variant, who underwent a complete CT-scan were included and matched 1:1 with controls. The conventional ...

Total Thrombus-Formation Analysis System (T-TAS) in Aortopathies: A Conceptua...

Krych(S),Gniewek(J),Kolbowicz(M),Stępień-S... Int J Mol Sci 2026-03-30

...FBN1), Transforming Growth Factor Beta Receptor 1/2 (TGFBR1/2), Actin Alpha 2 (ACTA 2), and Myosin Heavy Chain 11 (MYH11...

The m5C demethylase TET1 is identified as a key regulator of scleral remodeli...

Jia(S),Yang(L),Wei(P),Yu(J),Han(G),Wang(Y) Clin Epigenetics 2026-03-09

...Fbn1 (p < 0.001). Our study reveals substantial alterations in TET1 expression and m5C modification in myopic sclera, pr...

Genotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrom...

Kawashima(Y),Takeda(N),Omori(A),Nogimori(Y... J Am Coll Cardiol 2026-06-23

...FBN1 variants (2006-2024). Variants were classified by molecular mechanism (premature termination codon [PTC] variants v...

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