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1 cortical surface area (deletion < control < duplication).
2 ean cortical thickness (deletion > control > duplication).
3 gy in paired fins, that could have arisen by duplication.
4 29, which may represent an early step in SPB duplication.
5 ple origins of replication for timely genome duplication.
6 3.2 duplication, 13q34 deletion, and 16p13.2 duplication.
7 ation and transcription challenge chromosome duplication.
8 ergence of the Ae. tauschii GLR copies after duplication.
9 isome unwinds and synthesizes DNA for genome duplication.
10 ation of land plants, predominantly via gene duplication.
11 is assembled into a new structure during SPB duplication.
12 chromosome decondensation followed by genome duplication.
13 ilon), are responsible for eukaryotic genome duplication.
14 he transcriptional network that regulates PD duplication.
15 glaucoma in human patients with a TBK1 gene duplication.
16 lant genes after speciation and whole genome duplication.
17 als with and without the 22q11.2 deletion or duplication.
18 e paralogues generated in the teleost genome duplication.
19 ntified individuals with 22q11.2 deletion or duplication.
20 , which is essential for centrin arm and FAZ duplication.
21 rdates and nematodes and evolved rapidly via duplication.
22 and in Rett-related disorders, such as MECP2 duplication.
23 ape following hybridization and whole-genome duplication.
24 uired for the regulation of DDT after genome duplication.
25 of satellite DNA and surrounded by segmental duplications.
26 gh GC content, repeat elements and segmental duplications.
27 urveillance strategies for carriers of GREM1 duplications.
28 tributions and phylogenetic analyses of gene duplications.
29 bunits that have resulted from recent genome duplications.
30 construct the frequency and location of gene duplications.
31 A), which results in proximodistal (PD) limb duplications.
32 letion, 9p24.3-p23 deletion, 10q11.22-q11.23 duplication, 12p13.33-13.2 duplication, 13q34 deletion,
33 , 10q11.22-q11.23 duplication, 12p13.33-13.2 duplication, 13q34 deletion, and 16p13.2 duplication.
34 utation (3 of 20 tumors [15%]), whole genome duplication (5 of 20 tumors [25%]), and 3p deletion (11
35 and/or epilepsy were identified: 2p16.1-p15 duplication, 6p25.3-p25.1 duplication, 8p23.3p23.1 delet
36 tified: 2p16.1-p15 duplication, 6p25.3-p25.1 duplication, 8p23.3p23.1 deletion, 9p24.3-p23 deletion,
37 These expansions are largely due to tandem duplication, a possible adaptation mechanism enabling po
38 tified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with hom
40 innovation by fusion of incomplete segmental duplications, altered tissue expression, and potential s
41 2 appear to have originated by a chromosomal duplication and are found within evolutionarily-conserve
42 s in facilitating gene expression and genome duplication and demonstrate that accessory helicases are
43 results provide an illustration of how gene duplication and divergence can generate potential for th
44 two functions (HisA and TrpF), resulting in duplication and divergence of the hisA gene to encode Tr
45 d complexity is consistent with evolution by duplication and divergence, and some of the themes might
46 the last 100 million years that include gene duplication and divergence, gene loss, evolution of subs
47 modimeric ancestor through a process of gene duplication and diversification; however molecular evide
48 s for eukaryotic species allow for only gene duplication and gene loss or only multispecies coalescen
57 ription start site for HYDIN2 outside of the duplication and we observe fusion transcripts spanning b
58 enome organization that implicate local gene duplication and, to a lesser extent, single gene transpo
59 genic conditions, both complex disorders and duplication and/or deletion syndromes, can be effectivel
62 ng SCR and SCR associated gene amplification/duplications and imply that these functions of FANCJ are
63 ent errors in recombination and lead to gene duplications and structural chromosome changes that driv
65 s the product of two successive whole genome duplications) and between Arabidopsis and soybean orthol
66 daughter centrioles to become competent for duplication, and for mother centrioles to maintain this
68 Mb LCR22A-D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A-B 22q11.2 del
69 timescales, are associated with gene/genome duplications, and introgression has contributed to their
70 gies, orthology in the light of whole-genome duplications, and the concept of orthologous versus para
71 show that jute underwent shared whole-genome duplication approximately 18.66 million years (Myr) ago
72 lude the following: 1) basal body and bilobe duplication are concurrent; 2) maturation of probasal bo
74 ly 10-kilobase microhomology-mediated tandem duplications are abundant in the genomes of BRCA1-linked
77 with other tools with general deletions and duplications, as well as for different number of copies
79 3 years; 42 male patients), 79 carriers of a duplication at 16p11.2 (referred to as duplication carri
80 ttle is known about the consequences of this duplication at the level of the genome, the epigenome, a
81 ot BRCA2, suppresses the formation of tandem duplications at a site-specific chromosomal replication
83 MD families, we report two novel overlapping duplications at the MCDR3 locus, in a gene desert downst
88 e assessed the drivers of the distal 16p11.2 duplication by overexpressing each of the nine encompass
92 ing of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP
93 ull-scale and verbal IQ scores compared with duplication carriers without these findings (P < .007 an
97 of a duplication at 16p11.2 (referred to as duplication carriers; age range, 1-63 years; mean age, 2
102 dwide library of S. pombe strains, including duplications, deletions, inversions and translocations.
103 In Saccharomyces cerevisiae, the post-genome-duplication Dig1/Dig2 proteins regulate MAP kinase contr
106 NPM1 wild-type/FLT3 without internal-tandem duplications (EFS, 18% +/- 5 vs 40% +/- 7; Cox P < .001)
107 types were not necessarily coupled with gene duplication, even though silk-specific genes belong to m
108 550 million years ago as a result of a gene duplication event followed by loss of Cu(+) transport ac
109 the duplicated state after the whole genome duplication event in yeast, emphasizes the important rol
111 d sHsps that have emerged from a recent gene duplication event resulting from the ongoing diversifica
112 A Myrtales lineage-specific whole-genome duplication event was detected that occurred in the comm
119 ons reveal their emergence by two successive duplication events of a primordial gene pair in the last
120 ssification, distribution along the genomes, duplication events, molecular structure, and phylogeny.
121 plant evolution; but various genome and gene duplication events, which occurred during plant evolutio
125 significant iHR activity in internal tandem duplication FLT3 (FLT3-ITD) and JAK2V617F-mutated cells.
126 pletion cooperated with Flt3 internal tandem duplication (Flt3(ITD)) leukaemic mutations to accelerat
129 might have evolved from SbCYP82D1.1 via gene duplication followed by neofunctionalization, whereby th
135 originating from the Salicaceae whole-genome duplication had diverged expression, with the exception
136 logues from the two most recent whole-genome duplications had virtually identical localization patter
140 synteny indicated that segmental and tandem duplications have contributed greatly to the expansion o
146 in several of the figures, resulting in the duplications; however, they did not address all of the c
149 pecific gene expression and the role of gene duplication in functional novelty, but its potential has
150 s confirm the pathogenicity of the TBK1 gene duplication in human glaucoma and suggest that excess pr
151 etection algorithm missed a pathogenic 18 bp duplication in myosin binding protein C (MYBPC3) because
152 , including SfiA, a protein required for SPB duplication in Saccharomyces cerevisiae and S. pombe and
153 ng advantage of three distinctive signals of duplication in short-read sequencing data, we identified
154 en attributed to a semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gen
155 by core eudicots but no further whole-genome duplication in the last approximately 125 million years.
158 l okra leaf shape allele has a 133-bp tandem duplication in the promoter, correlated with elevated ex
159 known genetic risk for schizophrenia, but a duplication in the same region is strongly associated wi
160 cted two unique frameshift mutations and one duplication in three patients (two families); two siblin
161 n and Norwegian families is caused by tandem duplications in a non-coding genomic region containing a
164 of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyu
166 equencing data from 34 butterflies to detect duplications in two Heliconius species, Heliconius cydno
168 ng variants upstream of PRDM13 (MCDR1) and a duplication including IRX1 (MCDR3) have been identified.
169 entified expression patterns that explain PD duplication, including upregulation of proximal homeobox
171 ctural variation, including large deletions, duplications, inversions, translocations, and other rear
173 deletion (IRR, 4.24; 95% CI, 3.07-5.67) and duplication (IRR, 4.99; 95% CI, 1.79-10.72) was associat
174 ndicators for carrying a 22q11.2 deletion or duplication, IRR, and cumulative incidences for psychiat
178 le in early cleavage and regulate centrosome duplication is therefore a major cause of human preimpla
179 d in the 2.62 kb overlapping region of these duplications is an enhancer element that is active in ep
180 e multiprotein system responsible for genome duplication, is a highly dynamic complex displaying a la
181 We hypothesized that FLT3/internal tandem duplication (ITD) leukemia cells exhibit mechanisms of i
182 osine kinase domain (TKD) or internal tandem duplication (ITD) mutation with either a high ratio (>0.
183 yotype, the presence of FLT3-internal tandem duplication (ITD), and a < 4-log reduction in PB-MRD wer
184 requently co-occur with FLT3 internal tandem duplications (ITD) or, less commonly, NRAS or KRAS mutat
186 Uncoupling these processes through genome duplications likely provided important adaptations with
187 ree (LCT), that simultaneously describes the duplication-loss and coalescent history of a gene family
188 line can model gene sequence evolution, gene duplication-loss, gene transfer and multispecies coalesc
193 atients with activating FLT3 internal tandem duplication mutations at the time of acquired resistance
195 DGFRA mutations and KIT exon 11 insertion or duplication mutations were associated with favorable RFS
196 ib and control: 74% had FLT3-internal tandem duplication mutations, 23% FLT3-tyrosine kinase domain p
197 ations, substitution mutations, insertion or duplication mutations, and mutations that involved codon
199 complex functional relationships among miRNA duplications, novel expression patterns, sequence change
202 OX-interacting BELL proteins, in that a gene duplication occurred after divergence of the two groups.
204 ducing 2, HYDIN2, was generated by a 364 kbp duplication of 79 internal exons of the large ciliary ge
205 n cancer predisposition syndrome caused by a duplication of a noncoding sequence near the gremlin 1,
208 atic changes in chromosome structure include duplication of entire chromosome arms and aneuploidy whe
210 dicate that CvAOX has 10 exons with a tandem duplication of exon 10, and 3' alternative splicing usin
212 characterized by the inverted (palindromic) duplication of genomic segments, in HER2-positive breast
213 DNA synthesis (nuclear and kinetoplast DNA), duplication of organelles (basal body, bilobe, kinetopla
214 e-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and
218 The assay is designed around a heteroallelic duplication of the Aprt gene at its endogenous locus in
220 as been hypothesized to have resulted from a duplication of the developmental mechanisms present in t
221 een recruited several times independently by duplication of the gene encoding deoxyhypusine synthase,
224 Tooth disease type 1A (CMT1A) is linked with duplication of the peripheral myelin protein 22 (PMP22)
227 e propose the Iw loci arose from an inverted duplication of W1-COE and/or W2-COE in ancestral wheat t
228 sponding to a region of chromosome 15q11-13, duplication of which is recurrent in humans to character
229 ngly, these maps are segregated resulting in duplication of whisker representations and doubling of t
230 est that both individuals with deletions and duplications of 15q13.3 manifest neuropsychiatric diseas
231 milies, we identified two overlapping tandem duplications of 7.67 kb (South Africans) and 15.93 kb (N
233 Gene family analyses reveal lineage-specific duplications of genes involved in the transport of nutri
234 high turnover" fashion: numerous losses and duplications of this family are likely to reflect comple
236 ble peripheral neuropathy and results from a duplication on chromosome 17 that results in an extra co
238 rmation incidences, are predominantly tandem duplications or complex gains, exhibit breakpoint juncti
239 six loci previously associated with T2D had duplications or deletions in the T2D sample, but not the
241 arying numbers of enzymes, due to gene loss, duplication, or transfer, among closely related environm
246 subtypes, 111 participants with CMT1A/PMP22 duplication progressed by 1.8 +/- 4.2 (12% change from b
248 sons carrying either the 22q11.2 deletion or duplication provides estimates of direct clinical releva
250 agments and therefore, over-estimate the PCR duplication rate for DNA-seq and RNA-seq experiments.
252 in the sequence data and estimating the PCR duplication rate is important to assess the frequency of
253 here is a useful tool for estimating the PCR duplication rate of high-throughput sequence datasets an
254 utational method to estimate the average PCR duplication rate of high-throughput sequence datasets th
255 t our method can accurately estimate the PCR duplication rate on paired-end as well as single-end rea
257 e contiguity, correctness, coverage, and the duplication ratio of the merged assembly compared to the
258 nd size of the transcripts indicate that the duplication represents an intermediate on the pathway to
262 s of paralogous genes suggest a whole-genome duplication shared with olive (Olea europaea, Oleaceae).
265 A distinct disorder results from MECP2 gene duplication, suggesting that therapeutic approaches must
268 enes are derived from an ancient tandem gene duplication that likely predates the radiation of the se
270 f the first vertebrate-specific whole genome duplication, the affinity had increased (Kd approximatel
271 yntenic genes and a high rate of tandem gene duplications, the latter of which have given rise to 12
272 with their high propensity for whole genome duplication thus offer suitable animal model systems to
274 izontal gene transfer to loss ratio, but not duplication to loss ratio, correlates with genome size,
275 s 15q13.3 deletions and heterozygous 15q13.3 duplications to investigate the CHRNA7-dependent molecul
277 zed, and whether the teleost-specific genome duplication (TSGD) influenced complexity is unknown.
278 ts separation of chromosomes following their duplication until the appropriate time during cell divis
280 ent reporter activity in limbs undergoing PD duplication versus truncation, suggesting differences in
288 enes (ohnologues) retained from whole genome duplication (WGD) is thought to promote evolutionary div
289 lds for duplicates generated by whole genome duplication (WGD) or by small-scale duplication processe
291 small-scale gene duplications, whole-genome duplications (WGDs) copy entire pathways or networks, an
292 been shaped by the most recent whole-genome duplication, which suggests that ancient paralogues can
299 eetles up to 12 times and more specifically, duplications within the UV opsin class have likely led t
300 functions at the earliest step in centriole duplication yet identified and plays important roles in
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