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CBLN2 (rs2217560), BMPR2 (rs34135567, rs140683387, and rs2228545), ALK1 (rs2277382), Endoglin (rs45608833 and rs35400405), and SMAD9 (rs141647648) were genotyped by matrix-assisted laser desorption ionization-time-of-flight (MALDI-TOF) mass spectrometry.
A recent study investigated whether miR-135a could influence BMPR2 expression in an experimental mouse model of PAH.
Patterns of expression of messenger RNAs encoding GDF9, BMP15, TGFBR1, BMPR1B, and BMPR2 during follicular development and characterization of ovarian follicular populations in ewes carrying the Woodlands FecX2W mutation.
Let-7g-5p HMGA2  miR-10b-5p Bcl6  miR-19a Undetected  miR-19b Smad7  miR-21 FasL, PDCD4 [41, 42] miR-22-3p HDAC6  miR-23a Fas, Runx2 [70, 71] miR-24 Tcf-1  miR-27 APC  miR-29a-3p DKK1, Kremen2, sFRP2  miR-30 family Smad1, Runx2, LRP6  miR-100 BMPR2  miR-124 Dlx5, Dlx3, Dlx2  NFATc1, RhoA, Rac1  miR-125 ErbB2  miR-140-5p BMP2  miR-142 APC  miR-148a Kdm6b  MAFB  miR-2861 HDAC5  Table 3: miRNA dysregulated in plasma of osteoporotic patients and their function.
In this classification, familial PH was replaced by heritable PH because further evidence was found that a BMPR2 mutation was present in approximately 80% of the cases with familial PAH and in 20% of idiopathic PAH.
A second pathway that can result in TGF-[beta] signaling is the loss of signaling through the bone morphogenetic protein receptor 2 (BMPR2).
Aside from SCD as a cause of PH, extensive research and ample literature over the last 50 years have greatly expanded the number of clinical disorders known to cause PH, including pulmonary capillary hemangiomatosis, veno-occlusive disease, interstitial lung disease, sarcoidosis, chronic obstructive lung disease, left heart dysfunction, and individuals harboring a bone morphogenic protein receptor type 2 (BMPR2) mutation.
Gene ontology: biological Genes p-Value process terms Cell cycle CCNB1, CCNB2, MNAT1, CDC2, 2.7 E-14 CDKN 1 A, CDKN3, CDKN2A, ANAPC1, CDK10 Cellular metabolism KRT15, KIF1B, ZNF697, 4.3E-13 PRG2, P2RY2,IMMP2L Growth factor and growth BMP-2, TCF[beta]1, VEGF, 1.2E-11 factor receptor activity BMP8B, CSF1, FCFR1, BMPR2, 1GF2R, PDCFB, TGFBR2, NRP1, CCR2 Biosynthetic process CEL, COL11A2, ACPP, MMP14, 1.8E-9 CACNB1, ALPL, CDH1, ITGA3, SERPINB10, TAF4B, ABCB10, IRF8 Cell proliferation ATF3, MK167, S100A6, FTH1, DHCR7 2.1E-8 Signal transduction MAP2K3, MAPK14, MAP3K10, BAMBI, NDRG2, ECM1, SMAD7 5.5E-7 Apoptosis MYC, P53AIP1, ZBTB16, BBC3, 1.3E-5 VHL, CASP3, APITD1 Table 5 KEGG pathway analysis.
Ahmed et al., "The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations," Journal of Medical Genetics, vol.
The respective receptors for TGF-[beta] ligands are named TGF[beta]R2 and TGF[beta]R1; for BMPs BMPR2 and BMPR1; and so forth.
Besides, several miRNAs (miR17/92 cluster, -21, -23b, -130a, and -145) detected in PAH were reported to be connected with disrupted BMPR2 pathway in PAH (Table 3).
Hipertensao arterial pulmonar 1.1 idiopatica 1.2 hereditaria 1.2.1 mutacao do gene BMPR2 (bone morphogenetic protein receptor type-2) 1.2.2 mutacao do gene ALK1 (activin receptor-like kinase 1 gene), endoglin (com ou sem telangectasia hemorragica hereditaria) 1.2.3 desconhecida 1.3 induzida por drogas ou toxinas 1.4 associada a: 1.4.1 doencas do tecido conjuntivo 1.4.2 HIV 1.4.3 hipertensao portal 1.4.4 doenca cardiaca congenita 1.4.5 esquistossomose 1.4.6 anemia hemolitica cronica 1.5 hipertensao pulmonar persistente do recem-nascido 1.6 doenca pulmonar veno- oclusiva e/ou hemangiomatose capilar pulmonar 2.
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