完全性肺静脉异位引流潜在致病基因PDX1突变对其基因功能的影响
Effect of potential pathogenic gene PDX1 variants of total anomalous pulmonary venous connection on its gene function
Note：PITX2—paired like homeodomain 2; EPHB4—EPH receptor B4; PLXNA2—plexin A2; GJA5—gap junction protein alpha 5; LYVE1—lymphatic vessel endothelial hyaluronan receptor 1; NKX2-5—NK2 homeobox 5; PLCG1—phospholipase C gamma 1; FLT3—fms related receptor tyrosine kinase 3; KDR—kinase insert domain receptor; NOS2—nitric oxide synthase 2; B2M—beta-2-microglobulin; ANGPT1—angiopoietin 1; PTX3—pentraxin 3; TBX3—T-box transcription factor 3; FAS—Fas cell surface death receptor; PDGFRB—platelet derived growth factor receptor beta; HIF1A—hypoxia inducible factor 1 subunit alpha; HCN4—hyperpolarization activated cyclic nucleotide gated potassium channel 4; NRP1—neuropilin 1; ANKRD2—ankyrin repeat domain 2; HMOX1—heme oxygenase 1; PDPN—podoplanin; FGFR2—fibroblast growth factor receptor 2; HAND2—heart and neural crest derivatives expressed 2; BMPR2—bone morphogenetic protein receptor type 2; TNNT2—troponin T2, cardiac type; MYL7—myosin light chain 7; SEMA3D—semaphorin 3D; COL18A1—collagen type ⅩⅧ alpha 1 chain; ACTA2—actin alpha 2, smooth muscle; SHOX2—SHOX homeobox 2; CD34—CD34 molecule; GIT1—GIT ArfGAP 1.
