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We have determined two different mutations of GLI3 gene in two different cases, one of which is with GCPS and the other one is with PHS (Montrer PCBD1 Protéines). A deletion mutation was detected in the proband with GCPS and his mother. Otherwise, we found that, unlike the previously reported, the mutation c.2437C>T, p.Q813X which was detected in the GLI3 gene caused typical PHS (Montrer PCBD1 Protéines).
Our preliminary results identified risk variants of GLI3 that are associated with NSCL (Montrer NHLH1 Protéines)/P susceptibility in a Chinese population. In particular, rs3801161 and its haplotypes rs3801161-rs7785287 displayed significant association with NSCL (Montrer NHLH1 Protéines)/P and survived Bonferroni correction for multiple comparisons.
A novel GLI3 missense variant in a family that caused a spectrum of digital anomalies. All affected individuals that were tested harbored a c.1826G>A (p.(Cys609Tyr)) variant in GLI3. Functional studies of the murine p.Cys609Tyr GLI3 showed that the mutant protein is not efficiently processed to GLI3R, resulting in a full-length protein with basal transcriptional activity and submaximal pathway activation.
Hedgehog (Montrer SHH Protéines) pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI (Montrer GLI1 Protéines)-mediated activation of KIT expression.
The c.480dupC of the GLI3 gene probably underlies the synpolydactyly in this family.
Methylation at K436 and K595 respectively by Set7 (Montrer SETD7 Protéines) increases the stability and DNA binding ability of Gli3, resulting in an enhancement of Shh (Montrer SHH Protéines) signaling activation.
Data suggest that negative feedback mediated by GLI3 (GLI (Montrer GLI1 Protéines)-Kruppel family member) acts to finely tune SHH (sonic hedgehog (Montrer SHH Protéines)) signaling. During medulloblastoma (MB) formation, nerve tissue cells appear to express nestin (Montrer NES Protéines) which hyperactivates SHH (Montrer SHH Protéines) signaling by abolishing negative feedback by GLI3. Restoration of intrinsic negative feedback by repressing nestin (Montrer NES Protéines) expression represents a promising approach to treat MB. [REVIEW]
the first report of the assessment of the frequency of GLI3/SHH (Montrer SHH Protéines)/preZRS/ZRS in Chinese polydactyly patients to show any higher possibility of mutations or variants for the 4 genes or sequences in China
Gli3 and Teashirt3 (Montrer ZNF537 Protéines) might play an important role in the normal development of the ureter.
a novel GLI3 mutation c.714T>A (p.Y238*) was identified in a Chinese family with pre-axial polydactyly. Our results broadened the phenotypic spectrum of GLI3 mutations and demonstrated the feasibility of WES in clinical application of molecular diagnosis.
data indicate that Gli3 controls the onset of cortical neurogenesis by determining the levels of Cdk6 (Montrer CDK6 Protéines) expression, thereby regulating neuronal output and cortical size.
5'Hoxd genes and Gli3 are part of an interdigital signalling centre that sets net Bmp signalling levels from different interdigits to coordinately regulate phalanx and joint formation.
Together, our results show that SuFu (Montrer SUFUH Protéines) promotes cerebellar radial precursor differentiation to neurons. SuFu (Montrer SUFUH Protéines) function is mediated in part by GLI3R and down-regulation of Fgf15 expression.
Gli3 is a suppressor of stem cell proliferation that affects the number and function of mature taste cells, especially Tas1r3 (Montrer TAS1R3 Protéines)+ cells, in adult posterior tongue.
Gli3 activity in mouse thymic epithelial cells (TECs) promotes positive selection and differentiation from CD4 (Montrer CD4 Protéines)(+) CD8 (Montrer CD8A Protéines)(+) to CD4 (Montrer CD4 Protéines)(+) CD8 (Montrer CD8A Protéines)(-) single-positive (SP4) cells in the fetal thymus and Gli3 represses Shh (Montrer SHH Protéines) constitutive deletion of Gli3, and conditional deletion of Gli3 from TECs, reduced differentiation to SP4, whereas conditional deletion of Gli3 from thymocytes did not.
loss of Spop, but not Spopl (Montrer SPOPL Protéines), disrupts chondrocyte hypertrophy and osteoblast differentiation in the mouse, suggesting the requirement for Spop-mediated protein degradation in mouse skeletal development; overexpressed Spop targets both Gli3FL and Gli3R for ubiquitination and degradation and Spop is an important positive regulator of Ihh (Montrer IHH Protéines) signaling and skeletal development
mutual interactions between Gli3, Wnt8b, and Fgf17 (Montrer FGF17 Protéines) are crucial elements of the balance between these factors thereby conferring robustness to the patterning process
Results demonstrate a negative role of Spop in the level and activity of Gli3, Shh (Montrer SHH Protéines) signaling and ventral spinal cord patterning.
Gli2 and Gli3 are dephosphorylated and activated in cilia and that impaired Gli2 and Gli3 processing in Ta3 (Montrer HSP90B1 Protéines) mutant is at least in part due to a decrease in Gli2 and Gli3 phosphorylation.
These results suggest that Tctn1 (Montrer TCTN1 Protéines), Tctn2 (Montrer TCTN2 Protéines), and Tctn3 (Montrer TCTN3 Protéines) are functionally divergent with respect to their role in ciliogenesis and Hedgehog (Montrer SHH Protéines) signaling but conserved in neural tube patterning and Gli3 processing.
Zebrafish Gli3 functions as both an activator and a repressor in Hedgehog (Montrer SHH Protéines) signaling. In the eye, Gli3 is also required for proper ath5 (Montrer ATOH7 Protéines) expression and the differentiation of retinal ganglion cells.
The results provided evidence that polymorphisms in the GLI3 gene are associated with growth traits, and may be used for marker-assisted selection in beef cattle breeding program.
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B.
GLI-Kruppel family member GLI3
, glioma-associated oncogene family zinc finger 3
, oncogene GLI3
, transcriptional activator GLI3
, zinc finger protein GLI3
, GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
, GLI3 full length protein
, neural specific DNA binding protein
, neural-specific DNA-binding protein xGLI3
, GLI-Kruppel family member 3
, GLI3 form of 190 kDa
, anterior digit pattern deformity
, extra toes
, polydactyly Nagoya
, zinc finger transcription factor Gli3
, GLI family zinc finger 3