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A novel PRPS1 mutation related to early-onset progressive nonsyndromic hearing loss.
High PRPS1 expression is associated with chemoresistance in breast cancer.
evaluation of current literature on PRPS1-related syndromes and summaries of potential therapies [review]
analysis of intrafamilial phenotypic variation associated with a single PRPS1 mutation in syndromic or nonsyndromic hearing impairment
CRC (zeige CALR ELISA Kits) cells that overexpressed miR124 or with knockdown of RPIA (zeige RPIA ELISA Kits) or PRPS1 had reduced DNA synthesis and proliferation, whereas cells incubated with an inhibitor of miR124 had significantly increased DNA synthesis and proliferation and formed more colonies.
Study identified the critical region in the ARTS promoter and demonstrated that the Sp1 transcription factor (zeige SP1 ELISA Kits) could regulate the activity of the ARTS promoter through multiple Sp1 (zeige PSG1 ELISA Kits) binding sites.
Females with a missense mutation in PRPS1, exhibit neuropathy, hearing loss and retinopathy.
the de novo purine synthesis inhibitor lometrexol effectively abrogated PRPS1 mutant-driven drug resistance.
The expression of different genes encoding subunits of PRPS (zeige MSMB ELISA Kits) enzyme is affected by hypoxia in tumor glioma cells, but the effect of hypoxia is modified by suppression of endoplasmic reticulum stress signaling enzyme ERN1 (zeige ERN1 ELISA Kits).
respective phenotypic presentation seems to be determined by the exact PRPS1 mutation and the residual enzyme activity, the latter being largely influenced by the degree of skewed X-inactivation
PRPS1 knockdown prolonged survival time, reduced tumor volume and upregulated apoptosis in xenograft mouse model of glioma.
Only unedited pri-miR (zeige MLXIP ELISA Kits)-376 RNAs were detected in the cochlea suggesting that the activity of PRPS1 in the inner ear may not be regulated through the editing of miR (zeige MLXIP ELISA Kits)-376 cluster.
PRPS1 loss of function mutations cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene.
dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
, deafness 2, perceptive, congenital
, deafness, X-linked 2, perceptive, congenital
, phosphoribosyl pyrophosphate synthase I
, ribose-phosphate diphosphokinase 1
, ribose-phosphate pyrophosphokinase 1
, phosphoribosyl pyrophosphate synthetase I