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GLI3 encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family.
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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 Anticorps) pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI (Montrer GLI1 Anticorps)-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 Anticorps) increases the stability and DNA binding ability of Gli3, resulting in an enhancement of Shh (Montrer SHH Anticorps) signaling activation.
Data suggest that negative feedback mediated by GLI3 (GLI (Montrer GLI1 Anticorps)-Kruppel family member) acts to finely tune SHH (sonic hedgehog (Montrer SHH Anticorps)) signaling. During medulloblastoma (MB) formation, nerve tissue cells appear to express nestin (Montrer NES Anticorps) which hyperactivates SHH (Montrer SHH Anticorps) signaling by abolishing negative feedback by GLI3. Restoration of intrinsic negative feedback by repressing nestin (Montrer NES Anticorps) expression represents a promising approach to treat MB. [REVIEW]
the first report of the assessment of the frequency of GLI3/SHH (Montrer SHH Anticorps)/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 Anticorps) 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 (Montrer SHH Anticorps) 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 (Montrer SHH Anticorps) 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
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