This study demonstrated that the expression of Shh, Ptch1, and Gli1 in lumbosacral spinal cord was remarkably reduced during late developmental stages in fetal rats with ARMs.
This study demonstrated that the expression of Shh, Ptch1, and Gli1 in lumbosacral spinal cord was remarkably reduced during late developmental stages in fetal rats with ARMs.
The quantitative reverse transcription polymerase chain reaction (qRT-PCR) results showed that the expression of miR-342-5p was significantly increased in ARM anorectal tissues compared with normal tissues on GD19 and GD21, and the expression of Wnt3a demonstrated the opposite on GD21.
Thirty-seven patients with non-syndromic HSCR and eighteen controls were involved in this study. qPCR revealed that the UBR4 expression was strongly decreased (0.77-fold) in the ganglionic group of patients with HSCR compared to the control group with ARM (ΔC<sub>T</sub> 2.43 ± 0.36 vs. 2.05 ± 0.69; p = 0.009), whereas the UBR4 expression was also significantly reduced (0.79-fold) in the aganglionic group of patients with HSCR compared to the control group with ARM (ΔC<sub>T</sub> 2.39 ± 0.46 vs. 2.05 ± 0.69; p = 0.044).
In conclusion, Pdgfra is required for the development and survival of the urorectal mesenchyme in embryo, dysregulated Pdgfra signaling induced urorectal defects in mice resembling human congenital diseases of anorectal malformations and hypospadias.
We selected 15 commonly used reference genes (Rps18, Actb, B2m, Gapdh, Ppia, Hprt1, Pgk1, Ywhaz, Tbp, Ubc, Rps16, Rpl13a, Rplp1, Sdha, and Hmbs) as candidate reference genes and detected their mRNA expression in ARM samples by RT-qPCR.
The results of Western blots and qRT-PCR were consistent, with significantly increased Fgf9 expression in the hindgut and rectum of normal embryos than in embryos with ARM from E13 to E15.
Spatio-temporal expression of TBX4 was evaluated in normal (n = 490) and ETU-induced ARM rat embryos (n = 455) from E13 to E16 by immunohistochemical staining, Western blot analysis and real-time RT-PCR.
Immunohistochemical staining of ARM embryos revealed that MSX2 was mainly expressed in the epithelium of the hindgut and urorectal septum (URS) on GD14.
Our results reveal that BMP4 expression in the lumbosacral spinal cord of ARMs rat embryos is decreased at both the mRNA and protein levels and could decrease the phosphorylation of smad1/5, when compared with their expression levels in normal tissue.
Western blotting showed the expression levels of NSE, S-100, and C-kit were lower in the ARM group than that in the control group (P < .01).Histopathologic and IHC findings suggest that the distal rectal pouch has distinct defects in the neuromusculature.
In the present study, we used ethylene thiourea to induce the animal models of anorectal malformation in rat embryos and to interrogate the role of FOXD3/FOXD4 in anorectal malformation pathogenesis.
In conclusion, the results suggested that the differential expression of miR‑125b‑2‑3p, miR‑92a‑2‑5p and miR‑99a‑5p during key time-points of anorectal formation in rats may have functions in the pathogenesis of ARM.
These results support that missense mutation in the EBF2 c.215C > T (p.Ala72Val) is very likely to contribute to the pathogenesis of ARM in this family.
In conclusion, the results suggested that the differential expression of miR‑125b‑2‑3p, miR‑92a‑2‑5p and miR‑99a‑5p during key time-points of anorectal formation in rats may have functions in the pathogenesis of ARM.
Western blotting showed the expression levels of NSE, S-100, and C-kit were lower in the ARM group than that in the control group (P < .01).Histopathologic and IHC findings suggest that the distal rectal pouch has distinct defects in the neuromusculature.
Mature ganglionic cells were reduced and muscularis propria showed reduced and patchy positivity for NSE, S-100, and C-kit protein in ARM group compared to that in control group according to IHC.