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1 oxanthine-guanine phosphoribosyltransferase (HPRT).
2 hypoxanthine phosphoribosyltransferase gene (Hprt).
3 xanthine guanine phosphoribosyl transferase (HPRT).
4 and hypoxanthine phosphoribosyltransferase (HPRT).
5 oxanthine-guanine phosphoribosyltransferase (HPRT).
6 us with Leu67, Lys68, and Gly69 in the human HPRT.
7 gene C-MOS, and housekeeping genes GAPDH and HPRT.
8 ogous to position 192 (Leu-192) of the human HPRT.
9 ite was placed within the repeated region of HPRT.
10 ins, and most mutants had a single change in HPRT.
18 e demonstrate that the GTP synthesis enzymes HprT and Gmk bind with a high affinity, leading to an in
21 y a competitive RIA) and mutagenicity at the HPRT and TK loci (as assessed by cell-cloning assays) we
22 ation, mutation assays were performed on the HPRT and TK loci, and gene expression profiles were gene
23 ereas NO(*)-induced mutant fractions in both HPRT and TK1 genes were significantly lower in TK6 cells
25 the hypoxanthine phosphoribosyl transferase (HPRT) and Type I collagen (COL1A1) loci in normal human
26 cant decrease in frameshift mutation rate at HPRT, and (iii) the in vitro repair of looped substrates
27 xanthine guanine phosphoribosyl transferase (HPRT) as a test locus, it was determined that while no t
28 cI mutation assay is less sensitive than the hprt assay for detecting increases in Mf induced by ENU
30 monitoring DSB mis-repair using a sensitive HPRT assay, we found that depletion of HR proteins, incl
32 nd contained a high proportion of unreported HPRT base substitutions, -1-bp deletions and multiple mu
34 (p)ppGpp inhibits the purine salvage enzyme HPRT by sharing a conserved motif with its substrate PRP
37 poxanthine phosphoribosyl transferase locus (Hprt(CAG)146), which does not normally contain polygluta
38 for the involvement of two metal ions in the HPRT-catalyzed reaction, and structural details further
39 oxanthine-guanine phosphoribosyltransferase (HPRT) cause the intractable neurodevelopmental Lesch-Nyh
40 d here show that the 5aCdr-induced change in HPRT chromatin structure precedes the appearance of thre
43 r findings in SH-SY5Y cells demonstrate that HPRT deficiency is accompanied by dysregulation of some
44 in brain development, the mechanisms linking HPRT deficiency, purinergic pathways, and neural dysfunc
45 ed at characterizing purinergic signaling in HPRT deficiency, we used a lentivirus vector stably expr
47 that deficiency of APRT in combination with HPRT-deficiency in mice may lead to self-mutilation beha
48 sms may play a role in the neuropathology of HPRT-deficiency LND and may point to potential molecular
49 ful hypoxanthine phosphoribosyl-transferase (HPRT)-deficient mouse ES cell lines, two different metho
50 e establishment of E14.1TG3B1, a spontaneous HPRT-deficient cell line with an insertional mutation of
51 ression of phosphodiesterase 10A (PDE10A) in HPRT-deficient cell lines and that the PDE10 inhibitor p
55 hen delivered by infection into both a human HPRT-deficient fibroblast cell line and a mouse primary
56 n shRNA targeted to the HPRT gene to produce HPRT-deficient human CVB induced pluripotent stem cells
57 reased expression of the microRNA miR181a in HPRT-deficient human dopaminergic SH-SY5Y neuroblastoma
59 expression of miR181a is not as apparent in HPRT-deficient LND fibroblasts, the relevance of the SH-
60 adenine phosphoribosyltransferase (APRT) in HPRT-deficient mice has produced the suggestion that def
62 trate that these genes are down-regulated in HPRT-deficient SH-SY5Y cells and that over-expression of
64 lso revealed that V(D)J recombinase-mediated HPRT deletions increased with decreasing gestational age
65 on analyses showed a significant increase in HPRT deletions mediated by V(D)J recombinase in preterm
66 lopmental and gender-specific differences in HPRT deletions mediated by V(D)J recombinase provide ins
68 The hypoxanthine phosphoribosyltransferase (hprt) encoding region of man is considered rich in Alu s
72 ion was observed in a run of six guanines in HPRT exon 3, where a total of 23 (27%) of all PhIP-induc
75 stal structure of an asymmetric dimer of the HPRT from the protozoan parasite Trypanosoma cruzi was d
76 ns (K68D, K68E, K68N, K68P, and K68R) in the HPRT from Trypanosoma cruzi, etiologic agent of Chagas'
78 The hypoxanthine phosphoribosyltransferase (HPRT) from Trypanosoma cruzi, etiologic agent of Chagas'
80 mans and great apes, while a disorder in the HPRT gene (leading to the Lesch-Nyhan syndrome) is uniqu
81 events that lead to the reactivation of the HPRT gene after 5aCdr treatment: (a) hemi-demethylation
82 A mutations at the human p53 gene, the human hprt gene and both the rodent transgenic lacI and lacZ l
83 ine for modifying the mouse genome using the HPRT gene as a selection marker and for transmission at
84 NA led to selective isolations of the entire HPRT gene as yeast artificial chromosomes (YACs) that ex
85 analysis of these homologs revealed that the HPRT gene family expanded as the result of ancient verte
92 ates microsatellite instability, an elevated HPRT gene mutation rate, and resistance to the cytotoxic
95 t fraction (MF) in the endogenous, X-linked, hprt gene of the cells are associated with NO exposure.
96 f mutations induced by UV in the single copy HPRT gene of the derivative strains was significantly hi
99 r stably expressing an shRNA targeted to the HPRT gene to produce HPRT-deficient human CVB induced pl
100 ation and chromosomal mapping of the chicken hprt gene together with the construction of two counter
101 oid DNA onto a 156-kb BAC carrying the human HPRT gene using Red homologous recombination in the EL35
103 for the major dA mutational hot spot in the HPRT gene when Chinese hamster V79 cells are given low d
104 ning the BRCA1 promoter driving a selectable HPRT gene, long-term silencing of the promoter was obser
105 ical for maintaining repression of the human HPRT gene, we treated human/hamster hybrid cells contain
119 nous hypoxanthine phosphoribosyltransferase (Hprt) gene and an integrated viral thymidine kinase (tk)
120 oxanthine-guanine-phosphoribosyltransferase (HPRT) gene and compared with HPRT mutations observed in
122 the hypoxanthine phosphoribosyl transferase (HPRT) gene in a TOP2-dependent manner; and (iv) acidic p
127 uman hypoxanthine phosphoribosyltransferase (HPRT) gene on the inactive X chromosome, acquisition of
128 the hypoxanthine phosphoribosyltransferase (hprt) gene to produce substrates for gene-targeting (pla
129 the hypoxanthine phosphoribosyl transferase (HPRT) gene, is elevated in human cells either stably tra
133 amster P-glycoprotein class I homologue) and HPRT (human hypoxanthine phosphoribosyltransferase), was
134 se in mutation frequencies at the hemizygous HPRT (hypoxanthine phosphoribosyl transferase) locus, bu
135 Differentially expressed genes included HPRT, IMPDH, PAICS, and GART, all of which were expresse
136 uction in base substitution mutation rate at HPRT in HEC-1-B cells (hMSH6-defective but possessing wi
137 XPRT oligomeric interaction is distinct from HPRT in that XPRT forms a symmetric dimer with two (p)pp
138 of shared hot spots comprise some 18% of the HPRT in vivo hot spot spectrum and strongly suggest that
141 omatic mutational events in a reporter gene, HPRT, in cord blood T lymphocytes from newborns after tr
142 ulted in the encoding of a Thr in the mutant HPRT, instead of an Ile found in the wild-type enzyme, a
145 ls, P2Y1 mRNA and protein down-regulation by HPRT knockdown is refractory to activation by the P2Y1 r
148 is of three inherited mutations in the human HPRT leading to Lesch-Nyhan syndrome (D193N) or gout (S1
151 ed mutation at the TK (thymidine kinase) and HPRT loci, and gene expression profiling through microar
152 ing radiation-induced mutation at the TK and HPRT loci, impaired phosphorylation of H2AX (gamma-H2AX)
153 t a mutation rate of up to 1 in 1,200 at the Hprt locus (encoding hypoxanthine guanine phosphoribosyl
154 omosome, we inserted into the mouse X-linked Hprt locus a GFP transgene flanked with zero, one, or tw
155 cells also reduced the mutation rate at the HPRT locus and restored sensitivity to N-methyl-N'-nitro
157 had a 65-fold elevated mutation rate at the HPRT locus as compared to 2008 cells, both of which are
159 rian cancer cell line A2780, analyzed at the HPRT locus can be increased upon oxidative stress and de
160 of p53 on radiation-induced mutations at the hprt locus in murine B cell precursors that are normally
161 g joint processing at cryptic RSS within the HPRT locus in peripheral T cells from healthy children.
164 also examined the mutagenic response at the HPRT locus of human cells that had greatly reduced level
167 of vWF2 coupled to LacZ were targeted to the Hprt locus of mice, and the resulting animals were analy
170 into two defined chromosomal locations, the Hprt locus on the X-chromosome and the apolipoprotein (a
171 ken together, these results suggest that (1) Hprt locus targeting is a valuable tool for studying vas
172 lower mutation frequency as measured at the HPRT locus than CHOpcDNA3 cells treated with the same do
173 cells, HHUA cells have mutation rates at the HPRT locus that are elevated 500-fold for base substitut
174 tent analysis of the cRSS sites in the human HPRT locus to gain insight into the mechanisms mediating
175 e is targeted near the constitutively active HPRT locus under a tetracycline (tet)-regulatable promot
176 s induced by PhIP exposure at the endogenous HPRT locus was determined in cell lines defective in MMR
177 induced mutant frequencies at the endogenous HPRT locus were reduced up to 75% in cells with reduced
178 rns of the transcriptionally active X-linked HPRT locus, 323 bp of the endogenous human HPRT promoter
179 ch resulted in a 55-kb deletion of the mouse HPRT locus, demonstrating the feasibility of replacement
180 e markers revealed deletions of <3 cM at the Hprt locus, whereas results consistent with deletions co
181 ith the hCYP11B2 gene, targeted to the mouse HPRT locus, with either Hap-II or Hap-I variant are used
191 nked hypoxanthine phosphoribosyltransferase (Hprt) locus and at the neural cell adhesion molecule (Nc
192 uman hypoxanthine phosphoribosyltransferase (HPRT) locus contained within a 115-kilobase BAC insert w
193 The hypoxanthine phosphoribosyltransferase (Hprt) locus has been shown to have minimal influence on
197 oxanthine-guanine phosphoribosyltransferase (HPRT) locus in peripheral T cells from 111 children duri
198 the hypoxanthine phosphoribosyltransferase (HPRT) locus in peripheral T lymphocytes as well as the p
199 the hypoxanthine phosphoribosyl transferase (hprt) locus, we find that mice expressing a dominant-neg
204 We observed a significant increase in mean HPRT Mfs during each phase of therapy (diagnosis, 1.4 x
206 ty of this approach by showing that the hAGT(hprt) mice have normal tissue- and cell-specific express
209 erted into an intron in the APRT gene or the HPRT minigene, long tracts of CTG/CAG repeats (more than
211 of hypoxanthine phosphoribosyltransferase ( HPRT) minigenes in HPRT-deficient embryonic stem cells.
213 The cytokine production profile of most HPRT mutant CD4+ T cell clones from both healthy and HIV
216 ronmental exposure to cigarette smoke and 37 HPRT mutant isolates from 12 infants born to mothers exp
221 Indeed, we observed an elevated frequency of HPRT mutants in the CD4+ T cells of most patients with <
223 effects of UV-irradiation, the incidence of Hprt mutation did not differ significantly between wild-
227 yses of two signatures for mutant clonality, HPRT mutation, and T-cell receptor beta CDR3 region uniq
228 D1 cells exhibit a 12-fold-increased rate of hprt mutation, as well as 4- to 10-fold increased rates
229 that hypoxanthine phosphoribosyltransferase (HPRT) mutation frequencies were approximately 5-fold hig
230 smoke showed a significant difference in the HPRT mutational spectrum in those exposed in utero to ci
231 atory environment increased the frequency of HPRT mutations and down-regulated WEE1 (WEE1 homolog-S.
232 e induction of sister chromatid exchange and HPRT mutations by very low fluences of alpha particles (
233 d DNA sequencing revealed that NO-associated hprt mutations did not differ significantly from those a
234 s spectrum of somatic mutation differed from HPRT mutations identified in human peripheral blood T ly
235 heral blood T lymphocytes and from germ-line HPRT mutations identified in Lesch-Nyhan syndrome or hyp
236 ulfonate resulted in three- to fourfold more hprt mutations in splenic T lymphocytes from APNG ko mic
238 syltransferase (HPRT) gene and compared with HPRT mutations observed in somatic T lymphocytes from no
240 tionships among the frequency and spectra of HPRT mutations with disease, duration of illness, durati
242 se in spontaneous chromosome aberrations and HPRT mutations, indicating a role in the maintenance of
244 SCD and 30-month HU exposure had equivalent hprt(-) mutations but significantly more VDJ mutations (
245 eous hypoxanthine phosphoribosyltransferase (HPRT) mutations that can be detected based on the resist
246 res hypoxanthine phosphoribosyl transferase (hprt) mutations, while the VDJ assay identifies "illegit
248 ned according to the N- and C-termini of the HPRT of Escherichia coli, were used in polymerase chain
250 e prevalence of lysine at position 68 in the HPRT of the majority of eukaryotes is consistent with th
252 ibitor, trichostatin A, failed to reactivate HPRT on the inactive X chromosome, even when the promote
253 mutations at the reporter gene loci Aprt and Hprt, on the other hand, is significantly increased in b
256 enerate sufficient gene product to yield the HPRT+ phenotype, and that recombination between the conc
258 d HPRT locus, 323 bp of the endogenous human HPRT promoter (from position -222 to +102 relative to th
259 ent minigene, under the control of the mouse HPRT promoter and embedded in its natural CpG-rich islan
260 uggest a model in which the silencing of the HPRT promoter during X chromosome inactivation involves
264 xport (NES) signals to versions of the mouse Hprt protein containing expanded polyglutamine (HprtQ150
266 oxanthine guanine phosphoribosyltransferase (HPRT) purine biosynthesis gene and characterized by aber
267 gressive oligoclonal T-cell expansion (Vbeta/HPRT ratio) and gradually enhanced anti-cytomegalovirus
269 order of markers within this segment of the Hprt region as: Agtr2-Pem-Ant2-DXMit50-Lamp2-DXMit49.
274 poly(A) tract of an existing sequence at the hprt region; while another result from an Alu/Alu cross-
275 results indicate that the housekeeping gene HPRT regulates purinergic signaling in pluripotent human
277 the hypoxanthine phosphoribosyltransferase (HPRT) reporter gene in cord blood T lymphocytes from pre
278 oxanthine-guanine phosphoribosyltransferase (HPRT) reporter gene in independently isolated mutant T c
279 oxanthine-guanine phosphoribosyltransferase (HPRT) reporter gene mutational spectra analysis for 60 T
280 oxanthine-guanine phosphoribosyltransferase (HPRT)-reporter gene in children treated for acute lympho
282 Hypoxanthine phosphoribosyltransferase (HPRT) salvages 6-oxopurine bases in the nucleotide metab
283 f 3' hypoxanthine phosphoribosyltransferase (HPRT) sequence at one end and an 189-bp Alu repeat at th
285 r (p)ppGpp target, the purine salvage enzyme HPRT, suggesting evolutionary conservation in different
286 yrimidone photoproducts from both strands of hprt suggests that global-genomic nucleotide excision re
287 Mf determinations were made by using the HPRT T cell cloning assay on cord blood samples from 52
290 taining the neo(R) gene flanked by exon 3 of HPRT: The enzymes BamHI, BglII and EcoRI increased the i
291 hypoxanthine phosphoribosyltransferase gene (HPRT), this difference in chromatin structure is evident
292 ve contributions of IMPDH types I and II and HPRT to normal biological function, a mouse deficient in
294 e targeted cells, which showed no detectable HPRT transcription, were then assayed for effects on DNa
295 nate amino acid at position 192 in the human HPRT was investigated using site-directed mutagenesis.
296 ding hypoxanthine phosphoribosyltransferase (HPRT), we monitor the relative utilization of three DSBR
297 vation mosaicism for the purine salvage gene Hprt, we found that reduced ENS precursor proliferation
298 repeat DNA locus and a protein-coding gene (hprt) were significantly elevated in both the germline (
299 ied hypoxanthine phosphoribosyl-transferase (HPRT) with enhanced substrate specificity for guanine.
300 cient isolation of Cas9-mediated knockout of HPRT, with zero transposon integrations in HPRT by deep