Recombinant Human F-box-like/WD repeat-containing protein TBL1XR1 (TBL1XR1)

1. These results suggest that a de novo TBL1XR1 point mutation could alter Wnt/beta-catenin signaling activity. Further studies are required to clarify the involvement of TBL1XR1 mutations in neuropsychiatric conditions. PMID: 28588275
2. High TBL1XR1 expression indicates poor disease-free survival of stage I-III colorectal cancer patients; beta-catenin signaling is critical for TBL1XR1-mediated colorectal cancer cells oncogenicity. PMID: 28295012
3. emonstrated that TBL1XR1 can regulate the expression of vascular endothelial growth factor C and epithelial-mesenchymal transition proteins PMID: 28127799
4. TBLR1 has a role in reducing apoptosis in prostate cancer under androgen deprivation PMID: 27127173
5. Targeted SUMOylation of TBL1 and TBLR1 may be a useful strategy for therapeutic treatment of androgen-independent prostate cancer. PMID: 27129164
6. The patient with Tyr446Cys mutation presents with a submucous cleft palate and hydronephrosis in addition to severe delays, hypotonia, dysmorphic findings and emerging scoliosis, consistent with previous reports. PMID: 28687524
7. TBL1XR1-microduplication syndrome is an intellectual disability/learning disability syndrome with associated incomplete penetrance autism spectrum disorders, hearing loss, and delay of puberty. Its phenotypic overlap indicates that it is a genomic sister-disorder to the 3q26.32 microdeletion syndrome PMID: 28574232
8. the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features.. PMID: 27133561
9. TBL1XR1 contributes to GC tumorigenesis and progression through the activation of the beta-catenin/MMP7/EGFR/ERK signalling pathway and may act as a new therapeutic target for GC. PMID: 27694893
10. This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. Deletions and other mutations in TBL1XR1 can cause autism. The marked differences between Pierpont patients with the p.Tyr446Cys mutation and individuals with other mutations and whole gene deletions indicate a specific, but as yet unknown, disease mechanism of the TBL1XR1 p.Tyr446Cys mutation. PMID: 26769062
11. High expressions of TBL1XR1 is associated with liver metastasis for early stage colorectal cancer. PMID: 28317580
12. In targeted sequencing, a disruptive mutation of TNFAIP3 was the most common alteration (54%), followed by mutations of TBL1XR1 (18%) and cAMP response element binding proteins (CREBBP) (17%). PMID: 28152507
13. TBL1XR1 overexpression may be an unfavorable prognostic factor for Epithelial Ovarian Cancer. PMID: 28344213
14. Integrating population variation and protein structural analysis is harnessed to improve clinical interpretation of missense mutations in WD40 domain-containing TBLR1 protein for the prognosis of developmental disabilities. PMID: 26740553
15. in splenic hemangioma with t(3;6)(q26;p21), the entire coding region of HMGA1 comes under the control of the TBL1XR1 promoter, bringing about dysregulation of HMGA1 PMID: 26708416
16. These finding suggested that TBLR1 is likely to be a potential prognostic indicator and therapeutic target for HCC and that TBLR1 may be implicated in EMT of HCC cells. PMID: 26386862
17. Results show that upregulation of TBL1XR1 induces Nasopharyngeal Carcinoma cells resistance to cisplatin by activating the NF-kappaB pathway. PMID: 25145705
18. that TBL1XR1 haploinsufficiency can cause intellectual disability with a recognizable dysmorphism, without necessarily causing autistic behavior. PMID: 25425123
19. TBLR1 plays a key role in the development and progression of breast cancer cells via cyclin D1-transactivation and activation of the beta-catenin signaling pathway. PMID: 25341494
20. Patient with TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] leading to West syndrome with Rett-like features, together with autistic features was reported. PMID: 25102098
21. results demonstrated that TBL1XR1 induced lymphangiogenesis and lymphatic metastasis in esophageal squamous cell carcinoma via upregulation of VEGF-C, and may represent a novel prognostic biomarker and therapeutic target for patients with ESCC. PMID: 24667177
22. data indicate that loss of TBL1XR1 is a novel driver of glucocorticoid resistance in ALL and that epigenetic therapy may have future application in restoring drug sensitivity at relapse. PMID: 24895125
23. The TBLR1 protein may be a prognostic marker in cervical cancer and play an important role in the invasion and metastasis of human cervical cancer PMID: 24874481
24. Stable ectopic expression of TBLR1 leads to androgen-dependent growth suppression of prostate cancer cells by selective activation of androgen-regulated genes associated with differentiation and growth suppression but not cell proliferation. PMID: 24243687
25. Our study provides new insights into the molecular tumorigenesis of PCNSL and identifies novel genetic alterations in this disease, especially MYD88 and TBL1XR1 mutations activating the NF-kappaB signaling pathway. PMID: 22837180
26. TBL1XR1/TP63: a novel recurrent gene fusion in B-cell non-Hodgkin lymphoma. PMID: 22496164
27. TBL1 and TBLR1 are functionally redundant and essential for transcriptional repression by unliganded thyroid hormone receptors (TR) but not essential for transcriptional activation by liganded TR PMID: 15601853
28. TBLR1 is a multifunctional co-repressor of transcription PMID: 16893456
29. Wnt signalling induced the interaction between beta-catenin and TBL1-TBLR1, as well as their binding to Wnt target genes. Importantly, the recruitment of TBL1-TBLR1 and beta-catenin to Wnt target-gene promoters was mutually dependent on each other. PMID: 18193033
30. the TBL1XR1 gene was significantly under-expressed in acute lymphoblastic leukemia. PMID: 18767146

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HGNC: 29529

OMIM: 602342

KEGG: hsa:79718

STRING: 9606.ENSP00000405574

UniGene: Hs.714201