Mutations in the related DVL1
and DVL3 genes are known to cause Robinow syndrome, a rare inherited disorder in humans characterized by strikingly similar anatomical changes--a short, wide "babyface," short limbs, and spinal deformities.
According to Professor Henry Ho at the UC Davis School of Medicine who studies similar genes in humans, mutation in the related DVL1
and DVL3 genes are known to cause Robinow syndrome, a rare inherited disorder in humans characterised by strikingly similar anatomical changes.
Consistently, loss of Wnt7a function inhibits SVs clustering, an effect that is mimicked by loss-of-function of Dishevelled 1 (DVL1
) signaling downstream of Wnt ligands .
Pecina-Slaus, "Brain metastases from lung cancer show increased expression of DVL1
, DVL3 and beta-catenin and down-regulation of E-cadherin," International Journal of Molecular Sciences, vol.
Term Count % p value hsa04144: Endocytosis 9 2.85 9.79E-03 hsa04150: mTOR signaling 5 1.58 9.86E-03 pathway hsa04330: NOTCH signaling 4 1.27 4.06E-02 pathway Term Genes ARFGAP1, GIT1, HRAS, hsa04144: Endocytosis AP2A1, GRK6, RAB11B, HGS, EPN1, SH3GL1 hsa04150: mTOR signaling ULK1, STK11, TSC2, MLST8, pathway rptor hsa04330: NOTCH signaling NOTCH3, RFNG, NCOR2, pathway DVL1
Tres miembros de la familia Dishevelled (Dsh) (Dvl1
, Dvl2 y Dvl3) se han identificado en humanos .
[sup] In addition, SOX2 affects the protein expression levels of DKK3, DVL1
and DVL3, which are regulators or downstream molecules of Wnt signaling.
Each qRT-PCR contained 12.5 [micro]L of the Sybr Green Master Mix reagent (Applied Biosystems), 0.5 [micro]L of RNase inhibitor, 0.13 [micro]L of multiscribe (50U/[micro]L), 0.5 [micro]L of primers (20 nM) DV2U (5'-AAGGTGAGATGAAGCTGTAGTCTC-3'), and DVL1
(5'-CATTCCATTTTCTGGCGTTCT-3')  specifically designed to anneal to the DENV-2 3' untranslated region (3'-UTR), 5.87 [micro]L of DEPC water, and 5 [micro]L of RNA to a final volume of 25 [micro]L.