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Downregulation of the TRPS1 protein, which is a transcriptional target of hsa (显示 CD24 ELISA试剂盒)-miR (显示 MLXIP ELISA试剂盒)-26b-5p, was associated with radiation exposure.
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
the twins described by Fitzsimmons had heterozygous mutations in the SACS (显示 SACS ELISA试剂盒) 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 (显示 TBL1XR1 ELISA试剂盒) mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features..
Clinically, three patients had TRPS I, two with multiple supernumerary teeth. The clinical impression was confirmed by a novel TRPS1 mutation.
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
Down-regulation of TRPS1 by miR (显示 MLXIP ELISA试剂盒)-373, acting as a transcriptional activator, promotes epithelial-mesenchymal transition (EMT (显示 ITK ELISA试剂盒)) and metastasis by repressing FOXA1 (显示 FOXA1 ELISA试剂盒) transcription, expanding upon its previously reported role as a transcription repressor.
TRPS1 gene was responsible for most of the TRPS phenotype
Data show that co-silencing of tricho-rhino (显示 RHNO1 ELISA试剂盒)-phalangeal-syndrome (TRPS1) and cathepsin D (显示 CTSD ELISA试剂盒) (Cath-D) in breast cancer cells (BCC) affects the transcription of cell cycle and proliferation.
Trps1 plays a crucial role in osteosarcoma angiogenesis, metastasis and clinical surgical stage.
Single nucleotide polymorphisms in TRPS1 gene is associated with Coronary Artery Disease.
our findings partially explain why patients with TRPS show a broad range of congenital cardiac defects, although Trps1 expression is observed in a more restricted fashion.
Taken together, these results show that hair follicle development in Trps1 KO embryos is impaired directly or indirectly by decreased Noggin (显示 NOG ELISA试剂盒) expression.
association between SNP within TRPS1 and BMD (显示 BEST1 ELISA试剂盒)
Trps1 acts as a regulator of hdac1 (显示 HDAC1 ELISA试剂盒) and hdac4 (显示 HDAC5 ELISA试剂盒) histone deacetylases during mitosis.
The loss of Trps1 suppresses ureteric bud branching because of the activation of TGF-beta (显示 TGFB1 ELISA试剂盒) signaling.
We found that Trps1 directly represses expression of the hair follicle stem cell regulator Sox9 (显示 SOX9 ELISA试剂盒) to control proliferation of the follicle epithelium.
Trps1 is identified as a potent inhibitor of Dspp (显示 DSPP ELISA试剂盒) expression and the subsequent mineralization of dentin.
analysis of control of mesenchymal lineage progression by microRNAs targeting skeletal gene regulators Trps1 and Runx2 (显示 RUNX2 ELISA试剂盒)
These observations underscore the indispensable role played by Trps1 in normal temporomandibular joint development.
Genetic variation in TRPS1 may regulate hip geometry as well as bone mineral density
This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III.
trichorhinophalangeal syndrome I homolog
, zinc finger transcription factor Trps1
, tricho-rhino-phalangeal syndrome type I protein
, zinc finger protein GC79
, atypical GATA protein TRPS1