TRPS1 Antibody

1. In Pseudohypoparathyroidism, mutations were found in PRKAR1A, PDE4D, TRPS1, and PTHLH. PMID: 29499646
2. Two Pakistani families with sequence variants in GDF5 and TRPS1 causing brachydactyly type C and tricho-rhino-phalangeal syndrome type III are described. PMID: 29436063
3. The results of this study indicated a prominent role of TRPS1 in subependymoma development. PMID: 28528424
4. Results showed that TRPS1 along with GATA3 are distinctively overexpressed in breast cancer (BC) among all GATA family members and predict better survival in patients with BC. TRPS1 is then a distinctive biomarker and essential prognostic factor in BC. PMID: 28423734
5. Downregulation of the TRPS1 protein, which is a transcriptional target of hsa-miR-26b-5p, was associated with radiation exposure. PMID: 28944451
6. The first patient has a novel heterozygous two-base-pair deletion of nucleotides at 3198-3199 (c.3198-3199delAT) in the TRPS1 gene causing a translational frameshift and subsequent alternate stop codon. The second patient has a 3.08 million base-pair interstitial deletion at 8q23.3 (113,735,487-116,818,578), which includes the TRPS1 gene and CSMD3 PMID: 28256045
7. 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
8. Clinically, three patients had TRPS I, two with multiple supernumerary teeth. The clinical impression was confirmed by a novel TRPS1 mutation. PMID: 27706911
9. in this kindred support the previous genotype-phenotype results suggesting that patients with more pronounced facial characteristics and more severe shortening of hands and feet are more likely to have mutation in exon 6 of TRPS1 PMID: 28468609
10. Down-regulation of TRPS1 by miR-373, acting as a transcriptional activator, promotes epithelial-mesenchymal transition (EMT) and metastasis by repressing FOXA1 transcription, expanding upon its previously reported role as a transcription repressor. PMID: 26969828
11. TRPS1 gene was responsible for most of the TRPS phenotype PMID: 27826100
12. Data show that co-silencing of tricho-rhino-phalangeal-syndrome (TRPS1) and cathepsin D (Cath-D) in breast cancer cells (BCC) affects the transcription of cell cycle and proliferation. PMID: 26183398
13. Trps1 plays a crucial role in osteosarcoma angiogenesis, metastasis and clinical surgical stage. PMID: 26377811
14. Single nucleotide polymorphisms in TRPS1 gene is associated with Coronary Artery Disease. PMID: 25328121
15. Missense mutations are located exclusively in exon 6 and 7 of TRPS1 in patients with tricho-rhino-phalangeal syndrome. PMID: 25792522
16. TRPS1 haploinsufficiency results in STAT3 and SOX9 mRNA expression in Trichorhinophalangeal syndrome. PMID: 25136899
17. Trps1 is involved in non-anastomotic biliary structure pathogenesis following liver transplantation and negatively correlates with biliary epithelial cell epithelial-mesenchymal transition and biliary fibrosis in liver grafts. PMID: 25886207
18. our study proposes that TRPS1 acts as a central hub in the control of cell cycle and proliferation during cancer development PMID: 25277197
19. Identification of a novel missense mutation c.2726G>A (p.C909Y) of the TRPS1 gene in a family with trichorhinophalangeal syndrome type I. PMID: 25333908
20. truncated protein from mutant allele may be stably expressed in patient's hair follicles PMID: 24909213
21. we identified a mutation in the TRPS1 gene The same mutation was detected as a 10% mosaic mutation by Pyrosequencing in blood-derived DNA from his healthy mother. this is the first time that somatic mosaicism has been identified in TRPSI PMID: 23572024
22. TRPS1 gene expressionis associated with different epithelial mesenchymal transformation markers in ERalpha-positive and ERalpha-negative breast cancers. PMID: 24934762
23. Trps1 is required for odontoblast maturation by supporting expression of genes crucial for initiating the mineralization process. PMID: 25128529
24. association between SNP within TRPS1 and BMD PMID: 24416236
25. TRPS1 promotes angiogenesis and affects VEGFA expression in breast cancer. PMID: 24595984
26. TRPS-1 is an independent prognostic marker in early-stage breast cancer and a new epithelial-to-mesenchymal transition marker that can distinguish patients with estrogen receptor-positive breast cancer who will respond longer to adjuvant endocrine therapy PMID: 23729783
27. A role for Trps1 in the regulation of MDR1 expression in osteosarcoma. PMID: 24491996
28. Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient PMID: 23293878
29. we report the first familial balanced translocation [t(8;13)(q24.11;q21.31)] leading to trichorhinophalangeal syndrome I with a breakpoint 87 kb from the TRPS1 5' end. PMID: 23835950
30. The increased expression of TRPS1 may be involved in the pathogenesis and progression of colon cancer. PMID: 23762846
31. The strong expression of TRPS-1 may serve as a good prognostic marker in breast cancer. PMID: 24074613
32. Mutations in the amino terminus of this transcription factor result in TRPS I syndrome. PMID: 22481165
33. Genetic variation in TRPS1 may regulate hip geometry as well as bone mineral density PMID: 22306695
34. TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. PMID: 22127049
35. miR-221/222 targeting of trichorhinophalangeal 1 (TRPS1) promotes epithelial-to-mesenchymal transition in breast cancer. PMID: 21868360
36. we found critical differences in TRPS-1 expression in primary breast cancer PMID: 21761348
37. TRPS-1 was also found to be expressed in a high proportion of ER(-) ductal epithelial breast cancers PMID: 21761336
38. TRPS1 targeting by miR-221/222 promotes the epithelial-to-mesenchymal transition in breast cancer PMID: 21673316
39. nonsense mutations result in premature stop codons in exon 4 or exon 5 and frame shifts from the point of deletion or two-to-one substitution also lead to premature stop codons downstream. PMID: 20394624
40. Mutation in TRPS1 is associated with tricho-rhino-pharangeal syndrome. PMID: 20635356
41. Trichorhinophalangeal syndrome:report on a family where the father & 3 children have a novel out-of-frame indel, the largest intragenic indel reported to date & comment on intrafamilial consistency of the resulting TRPS type I phenotype PMID: 20177376
42. Review: Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene PMID: 11773701
43. novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes PMID: 11950061
44. homologous domains from the TRPS-1 and Drosophila Hunchback proteins support homodimerization, but not heterodimerization with Ikaros PMID: 12620233
45. TRPS1 activity is regulated by RNF4 PMID: 12885770
46. Our results suggest a role of TRPS1 in androgen regulation of prostate-specfici antigen gene expression PMID: 14680804
47. TRPS-1 protein and gene were expressed in >90% of early- and late-stage breast cancer, including ductal carcinoma in situ and invasive ductal, lobular, and papillary carcinomas PMID: 16043716
48. We show here that TRPS1 is SUMOylated at multiple sites, both in vivo and in vitro, through interaction with UBC9. Overexpression of wild-type UBC9 enhances TRPS1-mediated transcriptional repression. PMID: 17391059
49. suggests a possible involvement of TRPS1 in oxidative stress, and possibly in apoptosis in androgen-independent DU145 prostate cancer cells PMID: 17467349
50. study reports a family affected by a mild form of trichorhinophalangeal syndrome type I; mutation analysis showed a missense mutation (R952C) in exon 7 of the TRPS1 gene PMID: 17854380

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HGNC: 12340

OMIM: 150230

KEGG: hsa:7227

STRING: 9606.ENSP00000379065

UniGene: Hs.657018