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1 thout evidence of other somatic mutations or loss of heterozygosity.
2 8p23.1, where human cancers frequently show loss of heterozygosity.
3 We also assessed APC gene loss of heterozygosity.
4 rossover-promoting repair pathways, prevents loss of heterozygosity.
5 enes by determining homozygous deletions and loss of heterozygosity.
6 ied mutations with limited branching through loss of heterozygosity.
7 plasmic bacteria and results in an immediate loss of heterozygosity.
8 hromosomal defects and acquired copy-neutral loss of heterozygosity.
9 d as excessive sister chromatid exchange and loss of heterozygosity.
10 lances in chromosome number (aneuploidy) and loss of heterozygosity.
11 l lesion, indicating uniparental disomy with loss of heterozygosity.
12 s borderline tumor shared similar regions of loss of heterozygosity.
13 letion of wild-type alleles of both genes by loss of heterozygosity.
14 d with homozygous mutations in the region of loss of heterozygosity.
15 es demonstrated a high level of copy-neutral loss of heterozygosity.
16 at the mating locus through whole-chromosome loss of heterozygosity.
17 , arm-level copy number alterations, and HLA loss of heterozygosity.
18 A mutation or high percentage of genome-wide loss of heterozygosity.
19 potential for chromosomal rearrangements and loss of heterozygosity.
20 ion can expose deleterious mutations through loss of heterozygosity.
21 and with 1p and 16q copy number loss and/or loss of heterozygosity.
22 ed tumor and cell-free DNA samples revealing loss of heterozygosity.
23 tus was associated relapse (20% relapse with loss of heterozygosity, 25% with loss of imprinting, and
24 genotyping enables diagnosis of copy-neutral loss of heterozygosity, a lesion that cannot be detected
25 dromic and common form of fibroids; however, loss of heterozygosity across FH appeared as a significa
27 ter excluding cases with clonal copy-neutral loss-of-heterozygosity affecting class I HLA genes (8.6%
31 tal cancers and cell lines, we find frequent loss of heterozygosity and mutations in BCL9L in aneuplo
32 of genetic stability in all species, with no loss of heterozygosity and no shifts in allele frequenci
33 reconstruction of MF phylogeny demonstrating loss of heterozygosity and parallel evolution as recurre
34 in both families exhibited 9p deletion, with loss of heterozygosity and retention of the mutant PAX5
35 evel of global gene copy number alterations, loss of heterozygosity and single nucleotide variation (
36 segregation while limiting the potential for loss of heterozygosity and sister-chromatid exchanges.
37 was activation of the hedgehog pathway, with loss of heterozygosity and somatic mutation of the gene
39 we show how TGCTs gain additional reciprocal loss of heterozygosity and that this is associated with
41 o, and further characterize the link between loss of heterozygosity and the typical CALMs that appear
42 TEN) or have reduced PTEN expression through loss of heterozygosity and/or epigenetic silencing mecha
44 ele was homozygous after copy number-neutral loss-of-heterozygosity and amplified through a chromosom
45 velop lymphomas at higher incidence with p53 loss-of-heterozygosity and severe genome aneuploidy, sug
46 cies (BRCA mutant or BRCA wild-type and high loss of heterozygosity), and the intention-to-treat popu
47 e basis of evidence of activating mutations, loss of heterozygosity, and a mass forming proliferation
48 dy might be protective against TALEN-induced loss of heterozygosity, and indeed Apc gene editing was
50 level, including promoter hypermethylation, loss of heterozygosity, and proteosomal degradation by n
52 tates; (ii) it can identify the copy-neutral loss of heterozygosity; and (iii) it is efficient in ter
53 ypermethylation of genes that also displayed loss of heterozygosity, as well as of genes that show co
54 t frequent somatic chromosome alteration was loss of heterozygosity at 16p (in 8 of 33 patients for w
55 The most frequent recurrent aberrations were loss of heterozygosity at 3p and 9p, observed in 39 (65%
56 be associated with favorable prognosis, and loss of heterozygosity at chromosome 6q (LOH6q) was repo
59 supertype (including HLA-B*15:01) or somatic loss of heterozygosity at HLA-I was associated with poor
60 ll set of chromosomes from each parent, with loss of heterozygosity at some loci, and uniparental ret
64 py number loss of chromosome 22q, leading to loss of heterozygosity at the DGCR8 locus, was found in
65 ute lymphoblastic lymphoma, we reported that loss of heterozygosity at the Fbxw7 locus occurs frequen
67 ound of germline haploinsufficiency to cause loss of heterozygosity at the GNAS locus and lead to the
68 oteins were tested for the ability to induce loss of heterozygosity at the golden locus in zebrafish
70 ting mutations of PIK3CA (13.6%, n = 22) and loss of heterozygosity at the PTEN locus (25%, n = 8).
72 ry breast tumors revealed that 23% displayed loss of heterozygosity at the SPEN locus and that 3% to
74 fected tissue for genotyping; in such cases, loss of heterozygosity at the TP53 locus could lead to d
77 e lost their WT copy of the Apc gene through loss of heterozygosity by homologous somatic recombinati
78 ntributes to genomic instability, leading to loss of heterozygosity, chromosome rearrangements and ce
79 ng recurrent microdeletions and copy-neutral loss of heterozygosity (CN-LOH) in patients with diverse
80 urdens had evidence of acquired copy-neutral loss of heterozygosity (CN-LOH) of chromosome 1p in gran
82 cs, and their associated copy number neutral loss of heterozygosity (CN-LOH) were identified by STR a
83 ns (deletions, duplications and copy-neutral loss of heterozygosity (CN-LOH)) on all chromosomes(1,2,
86 y-number aberrations (CNAs) and copy-neutral loss of heterozygosity (cnLOH) identified by chromosome
89 including TNFRSF14, but copy-number neutral loss of heterozygosity (CNN-LOH) of this locus was more
93 ing a missense mutation in one allele and a 'loss of heterozygosity' deletion encompassing the other.
94 nly observed in tumor phylogenies due to the loss of heterozygosity, deletions, and convergent evolut
97 ovide additional results for copy number and loss-of-heterozygosity estimation and assessing tumour p
99 wed mutually exclusive endoreduplication and loss of heterozygosity events in clones present at diffe
101 ral abnormalities, defined as copy number or loss of heterozygosity events that are large and present
103 n Markov model to identify copy-neutral LOH (loss of heterozygosity) events as short as 11 Mb in mixt
104 ent with these observations, cells with TSC2 loss of heterozygosity expressed the OPG receptors, rece
105 e derived from a single parent, resulting in loss of heterozygosity for all single-nucleotide polymor
106 duals in family UW-AP exhibited copy-neutral loss of heterozygosity for large portions of the long ar
108 alysis revealed no change in copy number but loss of heterozygosity for the entire length of chromoso
109 tumors collected from BALB/c-Trp53+/- mice, loss of heterozygosity for Trp53 was detected in more th
112 was due to promoter hypermethylation and/or loss of heterozygosity, found in the majority of thyroid
113 anisms, has the potential to cause extensive loss of heterozygosity, genetic disease, or cell death.
115 ded as a nonneoplastic proliferation, albeit loss of heterozygosity has long been reported in a part
117 rs (mean homologous recombination deficiency-loss of heterozygosity/homologous recombination deficien
118 ous recombination deficiency was assessed by loss of heterozygosity (HRD-LOH) in pretreatment core br
119 tation of the remaining wild-type allele (or loss of heterozygosity), illustrating the strict correla
120 ressor gene that has been shown to undergo a loss of heterozygosity in 40-75% of human breast, ovaria
121 of Leu misincorporation resulted in complete loss of heterozygosity in a large region of chromosome V
122 hromosomal region frequently associated with loss of heterozygosity in a number of malignancies inclu
123 zed to chromosome 18q21, a frequent site for loss of heterozygosity in advanced stage colon cancers.
124 with NLS-RecA-Gal4 protein are able to cause loss of heterozygosity in approximately 3% of the inject
126 coded in 16q24.3, a region in which there is loss of heterozygosity in breast, ovarian, hepatocellula
129 exhibited ongoing immunoediting, with either loss of heterozygosity in human leukocyte antigens or de
130 es from two patients but identified possible loss of heterozygosity in iPS cell lines from one patien
133 this behavior is recapitulated by recurrent loss of heterozygosity in multiple metabolic genes adjac
135 mors were screened for somatic mutations and loss of heterozygosity in mutL homolog 1 (MLH1) and mutS
136 the left kidney, one from the right) showed loss of heterozygosity in one tumor, and four different
139 ur results indicate that de novo mutation or loss of heterozygosity in stromal APC is sufficient to i
141 ans simultaneously deletes one copy of BAP1, loss of heterozygosity in the corresponding Vhl region i
142 , pancreatic, and parathyroid tumors showing loss of heterozygosity in the putative tumor suppressor
146 ressor encoded in 16q24.3 for which there is loss of heterozygosity in various solid tumors, is respo
148 s identified somatic mutations combined with loss-of-heterozygosity in the splicing factor SUGP1 in f
149 ts with a germ line FAS mutation and somatic loss of heterozygosity, in whom biallelic mutant cells c
150 chment for WGD in tumor types with extensive loss of heterozygosity, including lung squamous cell car
151 umor suppressor, and its inactivation due to loss of heterozygosity is associated with cancers of dif
152 deficiency, providing an explanation for why loss of heterozygosity is not required for the developme
153 CpG island methylator phenotype (CIMP); 18q loss of heterozygosity; KRAS, BRAF, and PIK3CA mutations
154 Thus, the oncological concept of somatic loss of heterozygosity leading to selected cell expansio
155 0.26, P = 0.002), and increased frequency of loss of heterozygosity (LOH) across the genome (median 9
157 ssection followed by KRAS pyrosequencing and loss of heterozygosity (LOH) analysis on chromosomes 6q
158 se are chromosomal segments characterized by loss of heterozygosity (LOH) and a normal copy number (t
159 BIR results in greatly increased spontaneous loss of heterozygosity (LOH) and chromosome mis-segregat
160 nterestingly, the distribution of long-range loss of heterozygosity (LOH) and chromosome rearrangemen
161 ons (indels), copy-number variations (CNVs), loss of heterozygosity (LOH) and complex rearrangements,
162 current areas of somatic copy number-neutral loss of heterozygosity (LOH) and deletions of chromosome
164 resulting in copy number variation (CNV) and loss of heterozygosity (LOH) are frequently observed dur
165 Recent studies have reported that frequent loss of heterozygosity (LOH) as well as allelic imbalanc
169 atients with stage III FHWT without combined loss of heterozygosity (LOH) at chromosomes 1p and 16q t
171 ostic challenge by comparing the presence of loss of heterozygosity (LOH) at selected genetic locatio
173 umor phenotype is attenuated and altered and loss of heterozygosity (LOH) at the Trp53 wild-type locu
175 mmary epithelial cell model and show that 8p loss of heterozygosity (LOH) attenuates the action of se
176 H1 mutations, promoter hypermethylation, and loss of heterozygosity (LOH) by polymerase chain reactio
177 cordance between tumor and cell line for raw loss of heterozygosity (LOH) calls was 96% (range, 91-99
178 eds to thousands of non-driver genes undergo loss of heterozygosity (LOH) events per tumor, generatin
180 formative sporadic cases of cHL, we detected loss of heterozygosity (LOH) for KLHDC8B in RS cells, bu
181 air events occur by gene conversion limiting loss of heterozygosity (LOH) for markers downstream of t
182 from ewsa(m/m);tp53(w/m) zebrafish displayed loss of heterozygosity (LOH) for the wildtype tp53 locus
183 ty to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from exome sequencing data
185 s, we observed point mutations, deletions or loss of heterozygosity (LOH) in beta-2-microglobulin (B2
187 hoid system, we developed a method to induce loss of heterozygosity (LOH) in developing lymphocytes t
188 Men1(+/-); Cdk4(-/-) mice showed no signs of loss of heterozygosity (LOH) in the Men1 locus, whereas
190 I, 5.93 to 9.53 months]); and BRCA wild-type/loss of heterozygosity (LOH) low patient subgroup (107 r
191 VLRWTs with low WT1 expression and/or 11p15 loss of heterozygosity (LOH) may have increased risk of
192 ith BRCA1 and BRCA2 (BRCA) mutations genomic loss of heterozygosity (LOH) might also represent homolo
194 he earliest events, followed by deletions or loss of heterozygosity (LOH) of chromosomes carrying TP5
195 Such recombination events often lead to loss of heterozygosity (LOH) of SNPs that are centromere
197 revealed 95 deleted genes and 16 genes with loss of heterozygosity (LOH) on chromosome 3 in the diso
200 We examined DNA copy number alterations and loss of heterozygosity (LOH) to define the spectrum of m
201 from microdissected targets and analyzed for loss of heterozygosity (LOH) using a panel of 16 LOH mut
202 FABP7 expression loss in advanced melanomas, loss of heterozygosity (LOH) was assessed using microsat
204 1 or BRCA2 allele (absence of locus-specific loss of heterozygosity (LOH)) is observed in 7% of BRCA1
206 detailed information of copy number status, loss of heterozygosity (LOH), and event break points, wh
207 mal inversions, subtelomeric hypervariation, loss of heterozygosity (LOH), and whole or partial chrom
208 eled the chimeric tissue genotype of somatic loss of heterozygosity (LOH), by conditionally inactivat
209 determine copy number variations (CNVs) and loss of heterozygosity (LOH), comparing 138 cfDNA sample
210 squamous cell carcinoma (ESCC), we examined loss of heterozygosity (LOH), copy number (CN) loss, CN
211 use chromosomal rearrangements and extensive loss of heterozygosity (LOH), hallmarks of cancer cells.
212 oncocytoma, and clear cell with concomitant loss of heterozygosity (LOH), supporting a tumor suppres
223 es, we studied the frequency and location of loss-of-heterozygosity (LOH) events on chromosome III in
227 ized the occurrence of bursts of genome-wide loss-of-heterozygosity (LOH) in Saccharomyces cerevisiae
228 neck lineages revealed a diverse spectrum of loss-of-heterozygosity (LOH) signatures characterized by
229 brain-tissue-specific, large copy-number or loss-of-heterozygosity (LOH) variants involving multiple
231 ozygous/heterozygous deletions, copy-neutral loss-of-heterozygosity (LOH), allele-specific gains/ampl
232 mutations in one TP53 allele are followed by loss-of-heterozygosity (LOH), so tumors express only mut
233 any strains exhibit large genomic regions of loss-of-heterozygosity (LOH), suggesting that mitotic re
234 Completion of HR in G1 cells can lead to the loss-of-heterozygosity (LOH), which is potentially carci
236 atus, and tumor location), molecular (1p/19q loss of heterozygosity [LOH], IDH1 mutation, and MGMT me
237 ice, intestinal adenomas showed copy-neutral loss of heterozygosity, making them homozygous for the m
238 both corrected for CN in aneuploid regions), loss of heterozygosity, megabase-scale phased haplotypes
239 l gains and losses, and several copy neutral loss-of-heterozygosity mutations at a genome-wide level,
240 et of OSCC patient samples in the absence of loss of heterozygosity, mutations, and promoter methylat
241 s of which, due to chromosomal deletions and loss of heterozygosity, necessitate the development of i
242 ed that a high percentage of genomic loss or loss of heterozygosity occurs at this locus in breast ca
245 d high-density SNP-A karyotyping to identify loss of heterozygosity of 11q in 442 patients with MDS,
246 17q11, 14q32 amplification, and copy-neutral loss of heterozygosity of 9p were gained in the B-LBL ce
247 sitional cell carcinomas of the bladder show loss of heterozygosity of a region spanning the TSC1 loc
248 e broadly applied to induce sporadic in vivo loss of heterozygosity of any conditional alleles in pro
251 MB(SHH) tumors revealed somatic copy-neutral loss of heterozygosity of chromosome 1q as the hallmark
252 or Study 5 (NWTS-5), tumor-specific combined loss of heterozygosity of chromosomes 1p and 16q (LOH1p/
254 tem, we examined our hypothesis by mimicking loss of heterozygosity of GNAS expression using dominant
255 bromas are a hallmark of NF1 and result from loss of heterozygosity of NF1 in Schwann cells, leading
260 antigen presentation caused by mutations or loss of heterozygosity of the major histocompatibility c
262 urthermore, all tumors displayed concomitant loss of heterozygosity of Trp53 and Pten along with freq
265 nduced selective migration of cells, showing loss of heterozygosity of TSC2 from a heterogeneous popu
266 tivation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such a
268 rmalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of
269 ertant clones of normal skin that arise from loss of heterozygosity on chromosome 17q via mitotic rec
271 reated oligodendroglioma, WHO grade II, with loss of heterozygosity on chromosomes 1p and 19q, which
273 including inactivating mutations in WT1 and loss of heterozygosity or loss of imprinting at 11p15, w
274 els (corrected for aneuploidy), regions with loss of heterozygosity, phased haplotypes extending to e
275 justed for performance status score, age, 1p loss of heterozygosity, presence of oligodendroglial ele
276 l carcinoma (OSCC) samples in the absence of loss-of-heterozygosity, promoter methylation, and mutati
277 ariations, mapped copy-number variations and loss of heterozygosity regions, and phased variants acro
278 Using SNP-A, we identified chromosome 7q loss of heterozygosity segments in 161 of 1458 patients
279 constrained by the inbreeding-like effect of loss of heterozygosity that accrues as gene conversion a
280 omatic mutation in a MMR gene, with possible loss of heterozygosity that could lead to MMR deficiency
281 detecting abnormalities such as copy-neutral loss of heterozygosity that elude other approaches.
282 c expression or loss, somatic mutagenesis or loss-of-heterozygosity (the first three also in a tumor-
283 st to the cell, as BIR promotes mutagenesis, loss of heterozygosity, translocations, and copy number
285 for acquired genomic copy number changes and loss of heterozygosity using Affymetrix SNP 6.0 arrays,
286 Dict also detects differences in somatic and loss of heterozygosity variants between paired samples.
287 cations and reciprocal deletions (reciprocal loss of heterozygosity), variations that are significant
293 c recombination events resulting in extended loss of heterozygosity were not observed in DS iPSCs.
295 of chromosomes 13q and 13q, and copy-neutral loss of heterozygosity) were between two and six times l
296 otype AD) such aneuploidies have resulted in loss of heterozygosity, where a chromosomal region is re
297 el in any organism and show large regions of loss of heterozygosity, which we hypothesise to be a sho
298 ation or a germline FAS mutation and somatic loss-of-heterozygosity, which allows comparing the fate
300 ormation-somatic copy number alterations and loss of heterozygosity-within a unified probabilistic fr