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The patient with combined PPD1 and PAP-A/B (subject DUO36) exhibited a heterozygous nonsense mutation in chr7: 42004164G>A (ENST00000395925, c.4507C>T, p.Gln1503Stop) of the GLI3 gene that has not been previously recorded. The novel mutation in GLI3 c.4507C>T is likely one of the causes of the PAP and PPD1 of subject DUO36.
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. 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.
Our preliminary results identified risk variants of GLI3 that are associated with NSCL/P susceptibility in a Chinese population. In particular, rs3801161 and its haplotypes rs3801161-rs7785287 displayed significant association with NSCL/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 pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-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 increases the stability and DNA binding ability of Gli3, resulting in an enhancement of Shh signaling activation.
Data suggest that negative feedback mediated by GLI3 (GLI-Kruppel family member) acts to finely tune SHH (sonic hedgehog) signaling. During medulloblastoma (MB) formation, nerve tissue cells appear to express nestin which hyperactivates SHH signaling by abolishing negative feedback by GLI3. Restoration of intrinsic negative feedback by repressing nestin expression represents a promising approach to treat MB. [REVIEW]
the first report of the assessment of the frequency of GLI3/SHH/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 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.
we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. This deletion results in a truncated GLI3 protein that lacks a DNA-binding domain and cannot repress hedgehog signaling.
2 independent cases of GLI3 morphopathies presented: one is a familial case of Greig Cephalopolysyndactyly Syndrome and the other a non-syndromic case of post-axial polydactyly, both are caused due to a truncation mutation at C-terminal of GLI3
Gene silencing of GLI3 using RNA inference stimulated the growth of human Sertoli cells. miR-133b promoted the proliferation of human Sertoli cells by targeting GLI3.
We report on a patient with GCPS caused by a novel GLI3 mutation.
Identify mutations that increase GLI activity in patients with Hirschsprung disease.
To date, at least ten loci and four non-syndromic polydactyly-causing genes, including the GLI3 gene, the ZNF141 gene, the MIPOL1 gene and the PITX1 gene, have been identified. (Review)
from ESCs and induced pluripotent stem cells. SIGNIFICANCE STATEMENT: Our study presents a rapid and efficient protocol to generate human motoneurons from embryonic and induced pluripotent stem cells.
High expression of GLI1 mRNA was associated with advanced lung adenocarcinoma.
This newly identified miR-506/Gli3 axis provides further insight into the pathogenesis of cervical cancer and indicates a potential novel therapeutic agent for the treatment of cervical cancer.
The data imply that Ezh2 is epistatic to Gli3 and suggest the possibility that hedghehog activation is repressed by the recruitment of polycomb repressive complex 2.
data indicate that Gli3 controls the onset of cortical neurogenesis by determining the levels of Cdk6 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 promotes cerebellar radial precursor differentiation to neurons. SuFu 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+ cells, in adult posterior tongue.
Gli3 activity in mouse thymic epithelial cells (TECs) promotes positive selection and differentiation from CD4(+) CD8(+) to CD4(+) CD8(-) single-positive (SP4) cells in the fetal thymus and Gli3 represses Shh 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, 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 signaling and skeletal development
mutual interactions between Gli3, Wnt8b, and Fgf17 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 signaling and ventral spinal cord patterning.
Gli2 and Gli3 are dephosphorylated and activated in cilia and that impaired Gli2 and Gli3 processing in Ta3 mutant is at least in part due to a decrease in Gli2 and Gli3 phosphorylation.
These results suggest that Tctn1, Tctn2, and Tctn3 are functionally divergent with respect to their role in ciliogenesis and Hedgehog signaling but conserved in neural tube patterning and Gli3 processing.
Results indicate that the transcription factor Gli3 (Gli3)-mutant fetal liver (FL) had increased sonic hedgehog (Shh) signaling resulting in decreased B cell development.
Our findings show how Nestin drives hedgehog pathway-driven cancers and the tumor-promoting effects of Nestin were mediated by binding to Gli3, a zinc finger transcription factor that negatively regulates hedgehog signaling.
Gli3 gene is a direct target for repression by Tgifs during the neural tube patterning.
Sufu is upregulated in active Shh responding tissues and accompanies Gli activators translocating into and Gli repressors out of the nucleus.
Gli2+/-;Gli3Delta699/+ mice can serve as a genetic mouse model for common DSD.
cAMP dependent protein kinase A (PKA) is a key intracellular factor mediating SHH signaling through regulation of GLI3 processing.
Despite increased production of full-length GLI2 and GLI3 isoforms, previously identified GLI targets important for mandibular and glossal development (Foxf1, Foxf2, Foxd1 and Foxd2) were transcriptionally downregulated in Kif3a(f/f);Wnt1-Cre embryos.
Our findings suggest that ciliopathic facial phenotypes are generated via loss of both GLI3R and GLI2R and that this pathology occurs via a de-repression mechanism. Furthermore, these studies suggest a novel role for GLI2R in craniofacial development.
T-box3 interacts with Kif7 and is required for normal stoichiometry and function of a Kif7/Sufu complex that regulates Gli3 stability and processing.
Zebrafish Gli3 functions as both an activator and a repressor in Hedgehog signaling. In the eye, Gli3 is also required for proper ath5 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