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1 ivating mutations (nonsense, splice-site, or frameshift mutations).
2 while the second patient had a c.592_593dup frameshift mutation.
3 lls from schizophrenia patients with a DISC1 frameshift mutation.
4 2 expression was disrupted by an insertional/frameshift mutation.
5 (a-3, a-4, and a-5) each containing a unique frameshift mutation.
6 tors carried an 8-bp mutS deletion causing a frameshift mutation.
7 his construct undergoes continual subsequent frameshift mutation.
8 s appear to result from gene duplication and frameshift mutation.
9 ) (CD22DeltaE12) and results in a truncating frameshift mutation.
10 lineage, rpmGC is a pseudogene containing a frameshift mutation.
11 ch carries the protein-truncating c.6174delT frameshift mutation.
12 Four patients shared exon 10 V452WfsX38 frameshift mutation.
13 he domain 1 voltage sensor and introducing a frameshift mutation.
14 he dG(1,8) site, creating a complex for "-2" frameshift mutation.
15 lls required TGFBR2-even the form encoding a frameshift mutation.
16 lines, consisting of nonsense, missense and frameshift mutations.
17 n, minimizing generation of more deleterious frameshift mutations.
18 re expression of polypeptides in the face of frameshift mutations.
19 itutions (M(1)dG --> A and M(1)dG --> T) and frameshift mutations.
20 n strand breaks and potentially deletion and frameshift mutations.
21 pair (MMR) can lead to base substitution and frameshift mutations.
22 s (mostly M(1)dG to dT and M(1)dG to dA) and frameshift mutations.
23 otein C (gC), and gD, respectively, harbored frameshift mutations.
24 mechanism in LQT2 patients with nonsense or frameshift mutations.
25 sversion base substitutions and certain (-1) frameshift mutations.
26 er tracts during replication and can lead to frameshift mutations.
27 ically in the avoidance of transversions and frameshift mutations.
28 jority being either nonsense substitution or frameshift mutations.
29 which is specifically affected by one of the frameshift mutations.
30 tures present in subjects with DVL1 and DVL3 frameshift mutations.
31 ds to large numbers of base substitution and frameshift mutations.
32 rrelated positively with the total number of frameshift mutations.
34 ilaggrin S100 domain, whereas two additional frameshift mutations, 1249insG and 7945delA, occur in th
37 tients with CD who were heterozygous for the frameshift mutation (6% of CD cases analyzed) had reduce
38 aza and 4 aza-8-fluoro derivatives increased frameshift mutations about 22- and 4-fold, respectively.
39 e been described to date, with the c.649dupC frameshift mutation accounting for the majority of cases
41 and characterization of a novel heterozygous frameshift mutation affecting the carboxy-terminus (439f
42 re, we observed that a known illness-related frameshift mutation after amino acid 807 causes the C re
44 Glis3 observed in NDH1 patients results in a frameshift mutation and a C-terminal truncated Glis3.
45 ctivates a cryptic splice site, leading to a frameshift mutation and a premature stop codon that rend
46 omponent TrkA was originally thought to be a frameshift mutation and not to encode a functional prote
47 meshift mutation, one had exon 4 Q130SfsX130 frameshift mutation and one had exon 10 Q468X stop codon
49 emonstrated a thymine insertion leading to a frameshift mutation and premature truncation of catalase
51 , we identified three independent homozygous frameshift mutations and a homozygous deletion of two ex
54 ad RNA-seq output to reliably identify small frameshift mutations and missense mutations in highly ex
56 gKaKs can automatically detect and eliminate frameshift mutations and premature stop codons to comput
57 y changes: either a straight morphology from frameshift mutations and single nucleotide polymorphisms
58 tal age on base substitutions, we found that frameshift mutations and transposition events increased
59 A in which functional loss from nonsense and frameshift mutations and/or targeted deletions is observ
60 d resulted in two premature stop codons, one frameshift mutation, and one cysteine to glycine amino a
62 ases were characterized by both missense and frameshift mutations, and enzymatic activity of BAP1 mis
63 These included four missense mutations, two frameshift mutations, and one tRNA homopolymer expansion
66 set of lacZ strains revealed that genetic -1 frameshift mutations are strongly elevated in Clp-defect
67 the rates of hybridization-induced point and frameshift mutations as well as homologous recombination
68 We found that base substitutions outnumber frameshift mutations, as seen in other experimental syst
69 he mutations include missense, nonsense, and frameshift mutations, as well as splice-site and deletio
70 tary motor neuropathy of a dominant-negative frameshift mutation at the C-terminus of choline transpo
71 rtion of a transposable element as well as a frameshift mutation, both of which are completely absent
72 the anticodon loop are known to suppress +1 frameshift mutations, but in no case has the molecular m
73 ility of XMC, we identified the novel CHRDL1 frameshift mutation c.807_808delTC [p.H270Wfs*22] presum
74 -2A>G), whereas the other bears a homozygous frameshift mutation (c.1328_1329insT [p.Tyr444fs*3]) in
75 rphogenetic Protein-4) gene and identified a frameshift mutation (c.226del2, p.S76fs104X) that segreg
78 her 32-year-old cousin were homozygous for a frameshift mutation (c.45_46del AG, p.T15Tfsx27) in exon
80 ity for two mutations in the PSAT1 gene--one frameshift mutation (c.delG107) and one missense mutatio
81 ng whole-exome sequencing, we identified two frameshift mutations (c.981_993del [p.Gln327Hisfs( *)102
82 ations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in
83 date gene sequencing identified a homozygous frameshift mutation, c.139_140delAG, in the transmembran
84 osed with CVID and identified a heterozygous frameshift mutation, c.2564delA (p.Lys855Serfs( *)7), in
85 ffected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs( *)6), in
86 a large Israeli family revealed a homozygous frameshift mutation, c.947delA (p.Lys316Serfs( *)90), an
88 We tested the hypothesis that a deletion and frameshift mutation (C563fsX673) in the CEL VNTR causes
90 furazone, and suppressed the frequency of -1 frameshift mutations characteristic of Pol IV, while los
91 UV-induced mutagenesis, we focused on the +1 frameshift mutations detected by reversion of the lys2de
92 wo reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain cause
94 -linked families identified three additional frameshift mutations, for a total of four truncating all
96 a patient with SRNS with a homozygous ADCK4 frameshift mutation had partial remission following CoQ1
99 We report the first intragenic deletion and frameshift mutations identified in RAD21 in two patients
100 ed resequencing study, we identified a CXCR2 frameshift mutation in a pedigree with congenital neutro
101 dy shows that whole-genome duplication and a frameshift mutation in ACE2 are sufficient to generate a
103 g was supported by the discovery of a NOTCH1 frameshift mutation in an unrelated family with similar
104 P4S1 (NM_007077.3: c.124C>T, p.Arg42( *)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insT
105 repair protein, Msh2 in the correction of a frameshift mutation in both yeast and mammalian cells.
106 he consequences of a familial PAH-associated frameshift mutation in CAV1, P158PfsX22, on caveolae ass
108 p1 or pgp2 or a reduction in curvature due a frameshift mutation in cjj81176_1105, a putative peptido
109 le-genome sequencing identified a homozygous frameshift mutation in CORO1A disrupting the last 2 C-te
111 he discovery cohort, we associated CD with a frameshift mutation in CSF2RB (P = 8.52 x 10(-4)); the f
112 on in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with C
115 ere found to have at least one allele with a frameshift mutation in DOK7 exon 7, suggesting that loss
116 direct DNA sequencing, we have identified a frameshift mutation in exon 1 of KRT5 in the proband fro
118 exome sequencing, we identified a homozygous frameshift mutation in EXPH5 in three siblings with inhe
119 ne receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malfo
120 g AD came from flaky tail mice, which have a frameshift mutation in Flg and also carry an unknown gen
122 ine the effect of microsatellite length upon frameshift mutation in gene-specific sequence contexts,
123 Restoration of pathogenicity by repair of a frameshift mutation in GPCMV gene GP129 using this appro
124 ient patient lack XLF due to an inactivating frameshift mutation in its gene, and that reintroduction
125 bouriffe (ebo/ebo) harbors a homozygous 2-bp frameshift mutation in Lrrc8a that truncates the 15 term
126 lele frequency of 0.1% and found a recessive frameshift mutation in MYL4 that causes early-onset atri
128 and functional evidence demonstrating that a frameshift mutation in one paralog, Helianthus annuus FT
131 n another family, we discovered a homozygous frameshift mutation in PSPH, the gene encoding phosphose
132 ygome/exome analysis identified a homozygous frameshift mutation in RSPRY1 with resulting nonsense-me
133 ous cell carcinomas identified a case with a frameshift mutation in SCCRO that putatively codes for a
137 exome sequencing revealed a novel homozygous frameshift mutation in the basic helix-loop-helix transc
138 f the COL13A1 c.1171delG (p.Leu392Sfs( *)71) frameshift mutation in the C2C12 cell line reduced acety
139 lpha1PV is a dominant negative mutant with a frameshift mutation in the carboxyl-terminal 14 amino ac
141 s rat is severely osteopetrotic because of a frameshift mutation in the colony-stimulating factor-1 (
142 er disrupted the start codon or introduced a frameshift mutation in the early coding region, ensuring
144 uria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubu
145 osome 1p36-p35 and identified a heterozygous frameshift mutation in the gene encoding atrial natriure
147 ere ketoacidosis and identified a homozygous frameshift mutation in the gene encoding monocarboxylate
148 equencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen permea
149 tified a spontaneous genomic duplication and frameshift mutation in the guanine exchange factor dedic
150 p A streptococcus carriage strain contains a frameshift mutation in the hasA gene resulting in loss o
152 ess using oligonucleotides that correct a -1 frameshift mutation in the LYS2 gene of Saccharomyces ce
153 differences that might be found, including a frameshift mutation in the mycocerosic acid synthase gen
154 varian failure (POF) identified a homozygous frameshift mutation in the STAG3 gene leading to a prema
155 Unexpectedly, these data also revealed a frameshift mutation in the UL13 kinase in our strain F i
157 ailable from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) a
160 l cancers from two independent cohorts where frameshift mutations in 19 genes were analyzed and CD3(+
161 heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmenta
162 d either homozygous or compound heterozygous frameshift mutations in 4 of 33 unrelated cases of LQTS
163 The two evolved cell lines showed different frameshift mutations in a stretch of eight adenosines in
164 de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription
173 us exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families
174 lysis of patients revealed several different frameshift mutations in intron 6 or exon 7 of KRT10.
175 rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized
176 Expression of LCA-associated dominant CRX frameshift mutations in mouse retina mimicked the CrxRip
179 enotype resulted from nonsense, missense, or frameshift mutations in prfA Five strains carried hly mu
180 re is thought to reflect the accumulation of frameshift mutations in sequences that are repeated with
181 Here we show that missense, nonsense and frameshift mutations in SLC6A5, encoding the presynaptic
184 re, we report the identification of frequent frameshift mutations in the coding mononucleotide repeat
185 ymptomatic carriers, we identified recurrent frameshift mutations in the cohesin-associated factor PD
186 ditional 1515 CD cases and 7052 controls for frameshift mutations in the colony-stimulating factor 2-
187 is study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant
190 oth type 2P (CMT2P) has been associated with frameshift mutations in the RING domain of LRSAM1 (an E3
191 ereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene that results in a
192 some MSI-H CRC cells despite the presence of frameshift mutations in the TGFBR2 gene because the muta
193 ome (>77,400 for 5- to 20-nt HP tracts), and frameshift mutations in these regions are likely to disr
195 ilies, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exo
196 y microsatellite instability (MSI-H) develop frameshift mutations in tumor suppressors as part of the
198 ndary somatic loss-of-function (nonsense and frameshift) mutations in SAMD9 rescued the growth-restri
199 igation of an apparent correlation between a frameshifting mutation in the canonical first exon of NO
202 Interestingly, the percentage of overall frameshift mutations increased from 71 (37 degrees C) to
203 state carcinoma cell line homozygous for the frameshift mutation induced altered regulation of severa
204 bineering strategy to introduce simultaneous frameshift mutations into the flanking Hoxa9, Hoxa10 and
207 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this
210 omatic NF1 loss was different in each tumor (frameshift mutation, loss of heterozygosity, and methyla
211 These results provide insight into how -1 frameshift mutations might be generated for the PdG addu
212 indicated that loss of expression was due to frameshift mutations, mostly by addition or deletion of
213 ibuting to A-->T and A-->C transversions and frameshift mutations observed in cells following treatme
214 lls from four members of a family in which a frameshift mutation of disrupted in schizophrenia 1 (DIS
222 false-positive calls of nonsense mutations, frameshift mutations, or genomic rearrangements for any
223 nonhomologous end joining repair, leading to frameshift mutations, or homology-directed repair using
224 moter methylation (P = .04), p53 nonsense or frameshift mutations (P = .01), and a gene expression si
225 deletion in exon 6 at codon 260 results in a frameshift mutation, p.Asp260fs, altering residues 260-2
226 s included a complete deletion of RTN2 and a frameshift mutation predicted to produce a highly trunca
229 on of translation occurred downstream of the frameshift mutation, probably at the BRCA1-Met-297 codon
231 xonucleases ExoI and ExoVII display elevated frameshift mutation rates but not base substitution muta
233 feU gene of E. coli K-12 is cryptic due to a frameshift mutation - repair of the single-base-pair del
234 owed a clear phenotype-genotype correlation: Frameshift mutations resulted in severe phenotypes with
236 sent in T-ALL are predominantly heterozygous frameshift mutations resulting in truncation of the C-te
237 enerate single-base deletions (also known as frameshift mutations) resulting from DNA template-strand
239 premature stop codon introduced by the CHADL frameshift mutation results in nonsense-mediated decay o
242 4.0 x 10(-12), odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in
243 tive to valine-resistance assay that detects frameshift mutations showed that mutagenesis is elevated
246 Null alleles with ACC2 nonsense mutations, frameshift mutations, small deletions, genomic rearrange
247 n PTPN22 was identified, including two novel frameshift mutations (ss538819444 and rs371865329) and t
248 cluded the possibility of a gain-of-function frameshift mutation such as those found in loricrin or c
249 athway is known to increase the frequency of frameshift mutations suggesting competition between thes
251 ble mutant that induces even higher rates of frameshift mutation than does the wild-type hAAG; the Y1
252 hotobacterial cqsA genes harbour a conserved frameshift mutation that abolishes CAI-1 production.
253 three SMO missense mutations, and one PTCH1 frameshift mutation that are novel and have not been doc
254 al, TERT, revealed a missense mutation and a frameshift mutation that cosegregated with pulmonary dis
256 orchidism, and absent puberty), a homozygous frameshift mutation that is predicted to disrupt the 3 C
258 ant AdEasyE1Delta2347, which carries the Hr6 frameshift mutation that prevents production of the E1B
259 it pays off handsomely, identifying a single frameshift mutation that segregates with the disease.
260 ong necrotizing fasciitis cases has a unique frameshift mutation that truncates MtsR, a transcription
262 ve evolution in haplotypes segregating for a frameshift mutation that was previously thought to indic
263 ontaining either an internal stop codon or a frameshift mutation that would render the protein produc
265 tations that fall on interfaces and nonsense/frameshift mutations that result in truncated negative r
266 6%) and consisted exclusively of nonsense or frameshift mutations that truncated the coding region at
267 All the variants are either nonsense or frameshift mutations that, in representative cases, resu
268 s as a potential mechanism leading to an N-1 frameshift mutation, the nick left after the removal of
269 ne repair, leading to substitution and short frameshift mutations, they are both a source of genome d
273 a homozygous p.D18fs*13 TRDN-encoded triadin frameshift mutation was discovered in a 10-year-old fema
278 sing even further when at least one of these frameshift mutations was present in all tumor cells.
279 essing an NOD2 gene with the Crohn's disease frameshift mutation were only slightly resistant to TNBS
280 that result in amino acid substitutions and frameshift mutations were also observed, though in a rat
288 d the VEEV capsid, with a previously defined frameshift mutation, were found to have no detectable ef
289 es); two siblings shared the same homozygous frameshift mutation, whereas one individual with sporadi
290 escribe a new humanized FUS-ALS mouse with a frameshift mutation, which fulfils both criteria: the FU
291 FOS-induced mutation was characterized by +1 frameshift mutations, which increased from 0% in control
294 of NCF4 showed compound heterozygosity for a frameshift mutation with premature stop codon and a miss
295 h the G3 site is an established hot spot for frameshift mutation with the model arylamine derivative
296 utations were detected in 47 cases (10%): 46 frameshift mutations with insertion/deletion of one to 2
298 ensity to promote C-->A transversions and -1 frameshift mutations within poly(dGMP) and poly(dAMP) ru
299 NA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in
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