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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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Our preliminary results identified risk variants of GLI3 that are associated with NSCL (zeige NHLH1 Antikörper)/P susceptibility in a Chinese population. In particular, rs3801161 and its haplotypes rs3801161-rs7785287 displayed significant association with NSCL (zeige NHLH1 Antikörper)/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 (zeige SHH Antikörper) pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI (zeige GLI1 Antikörper)-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 (zeige SETD7 Antikörper) increases the stability and DNA binding ability of Gli3, resulting in an enhancement of Shh (zeige SHH Antikörper) signaling activation.
Data suggest that negative feedback mediated by GLI3 (GLI (zeige GLI1 Antikörper)-Kruppel family member) acts to finely tune SHH (sonic hedgehog (zeige SHH Antikörper)) signaling. During medulloblastoma (MB) formation, nerve tissue cells appear to express nestin (zeige NES Antikörper) which hyperactivates SHH (zeige SHH Antikörper) signaling by abolishing negative feedback by GLI3. Restoration of intrinsic negative feedback by repressing nestin (zeige NES Antikörper) expression represents a promising approach to treat MB. [REVIEW]
the first report of the assessment of the frequency of GLI3/SHH (zeige SHH Antikörper)/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 (zeige ZNF537 Antikörper) 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 (zeige SHH Antikörper) 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 (zeige SHH Antikörper) signaling.
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