Recombinant Human Transcriptional activator GLI3 (GLI3), partial

1. 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. PMID: 30226973
2. 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. PMID: 28947718
3. 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. PMID: 28884880
4. The c.480dupC of the GLI3 gene probably underlies the synpolydactyly in this family. PMID: 28777844
5. 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. PMID: 27146893
6. 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] PMID: 28389227
7. 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 PMID: 28127823
8. Gli3 and Teashirt3 might play an important role in the normal development of the ureter. PMID: 27279789
9. 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. PMID: 27305983
10. 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. PMID: 26791356
11. 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 PMID: 26508445
12. 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. PMID: 26755652
13. We report on a patient with GCPS caused by a novel GLI3 mutation. PMID: 25714367
14. 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) PMID: 26515020
15. 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. PMID: 26290227
16. 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. PMID: 24608427
17. Fu ubiquitination and cleavage is one of the key elements connecting the MID1-PP2A protein complex with GLI3 activity control PMID: 25278022
18. the role of GLI3 in a significant fraction of patients with non-syndromic bilateral polydactyly affecting both hands and feet PMID: 24667698
19. These data demonstrated an association between rs929387 of GLI3 and non-syndromic tooth agenesis in Chinese Han individuals. PMID: 24278334
20. Data identifies a His601Arg mutation in the ZFD domain of GLI3 leading to phenotypic variability including an isolated limb phenotype in a jewish family. PMID: 25267529
21. GLI3 mutation is associated with esophageal atresia. PMID: 24819706
22. The findings of this study indicated that neuronal differentiation is associated with Gli3 expression in medulloblastoma cells, and that this feature predicts a favorable outcome for patients with medulloblastoma. PMID: 23889567
23. No deletion or amplification of the entire GLI3 gene was found in a group of patients with isolated or syndrome-associated esophageal atresia. PMID: 23442119
24. we have described the Gli3RD as an intrinsically disordered domain. PMID: 24146948
25. it is proposed here that during vertebrate evolution the Gli3 expression control acquired multiple, independently acting, intronic enhancers for spatiotemporal patterning of CNS, limbs, craniofacial structures and internal organs PMID: 24102645
26. This report supports the fact that the phenotypic variability exists in the GL13-associated disorders. There is a need to perform the GL13 mutational analysis in all cases of familial polysyndactyly, even without the typical triad of symptoms. PMID: 23334564
27. High-expression of GLI3 was significantly associated with lymph node metastasis in lung adenocarcinoma. PMID: 23736020
28. Partial gliosis in astrocytes is the result of an increase in transgenic GLI3 repressor activity. PMID: 24174682
29. GLI3, fascin and TUBB3 are the most sensitive markers in Hodgkin lymphoma and anaplastic large cell lymphoma. PMID: 23454725
30. Gli3-mediated hedgehog inhibition in human pluripotent stem cells initiates and augments developmental programming of adult hematopoiesis. PMID: 23293081
31. activator Gli3 signal augments tumorigenicity of colorectal cancer irrespective of p53 status. PMID: 23176625
32. The study data demonstrate an association between SNP rs929387 of the GLI3 gene and non-syndromic hypodontia in Chinese Han individuals. PMID: 22984994
33. Intragenic GLI3 deletions may be responsible for Greig cephalopolysyndactyly syndrome and preaxial polydactyly type IV. PMID: 22903559
34. document enhanced SHH pathway activation and GLI3-target gene induction coincident with impaired recruitment of CDK8 onto promoters of GLI3-target genes, but not non-GLI3-target genes PMID: 23091001
35. AKT1-GLI3-VMP1 pathway mediates KRAS oncogene-induced autophagy in cancer cells. PMID: 22535956
36. No expression of GLI3 gene was detected in the flexor hallucis longus of ICTEV patients or normal controls. PMID: 22678783
37. a novel mutation of GLI3 causing various digital abnormalities PMID: 21320477
38. loss of Gli3 signaling leads to disruption of the MDM2-p53 interaction and strongly potentiates p53-dependent cell growth inhibition in colon cancer cells PMID: 22227409
39. GLI3 is strongly expressed by virtually 100% of the Hodgkin and Reed-Sternberg cells of Hodgkin lymphoma. PMID: 21531006
40. association of intragenic GLI3 mutations with metopic synostosis PMID: 21326280
41. Disruption of Gli3-Zic3 interaction in the critical period for ventral body wall formation may contribute to omphalocele phenotype in Cd chick model. PMID: 21069353
42. Clinical and molecular findings of previously reported patients who had GLI3 mutations and genital abnormalities were reviewed. PMID: 21108399
43. The phenotype spectrum of GL13 mutations is broader than encompassed by clinical diagnostic criteria in Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) patients than previously recognized. PMID: 20672375
44. Pallister-Hall syndrome includes bifid epiglottis, hypothalamic hamartoblastoma, postaxial polydactyly, anal atresia, and occasionally laryngeal clefts. Mutations in the GLI3 gene can cause Pallister-Hall syndrome PMID: 20425471
45. study reports on the novel association of trigonocephaly and polysyndactyly in two unrelated patients due to mutations within the last third (exon 14) and first third (exon 6) of the GLI3 gene, respectively PMID: 20583172
46. These results not only demonstrate the high level of complexity in the genetic mechanisms controlling Gli3 expression, but also reveal the evolutionary significance of cis-acting regulatory networks of early developmental regulators in vertebrates. PMID: 20426846
47. relationship between mutation points of GLI3 & Gli3 & resulting phenotypes in humans & mice described; discussed how reduced amounts of GLI3 protein or truncated mutant GLI3 protein disrupt development of limbs, head, face [review] PMID: 20201963
48. Assays of deletion constructs revealed that the human-Fugu conserved sequences within the GLI3 intronic CNEs were essential but not sufficient for full-scale transcriptional activation PMID: 17426814
49. GLI3 point mutations lead to misregulation of its subcellular localization PMID: 19829694
50. The expression of Gli3, regulated by HOXD13, may play a role in idiopathic congenital talipes equinovarus. PMID: 19925654

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HGNC: 4319

OMIM: 146510

KEGG: hsa:2737

STRING: 9606.ENSP00000379258

UniGene: Hs.21509