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1 fect of moderate alcohol consumption between alleles).
2 in sister clades with and without a specific allele.
3 is mutated to the nonphosphorylatable S129A allele.
4 ISPR)-Cas9 system and a transposon-disrupted allele.
5 403S strains expressing the more active GcpE allele.
6 iption-altering mutation was the responsible allele.
7 s compared to those with an inherited driver allele.
8 elic expression of GATA2 from the unaffected allele.
9 hibition of V(D)J recombination on the other allele.
10 at position +5 in leader exon of Igh (Ter5H) allele.
11 ation into a conditional NrasG12D "knock-in" allele.
12 inactive allele to levels >60% of the active allele.
13 guish the supergene allele from the standard allele.
14 ased livers of children homozygous for the Z allele.
15 dentified a 120 kb insertion in the wingless allele.
16 1-1 and HP2-1) and HP2-2 to evaluate the HP1 allele.
17 ve transcriptional silencing of one parental allele.
18 g mammalian development using targeted mouse alleles.
19 codons specifically within the mutant BEST1 alleles.
20 tically generates insertion mutations in all alleles.
21 eres, are elevated in TRIM32 disease-causing alleles.
22 iating precise MICs with specific resistance alleles.
23 onstrating intragenic complementation of SMN alleles.
24 urvival time for selectively neutral nuclear alleles.
25 sessed mixed PfRh2b deletion and full-length alleles.
26 nsistent with reported phenotypes for mutant alleles.
27 e with wild-type strains that lack resistant alleles.
28 ession, our analyses reveal distinct mimicry alleles.
29 are related to ExPEC-and 2,826 corresponding alleles.
30 o rescue the loss of Cdk8 and behave as null alleles.
31 ight melanoma patients for all their class I alleles.
32 ent pig breeds, including the breed specific alleles.
33 g that the mutations create loss-of-function alleles.
34 rtitioned between loss- and gain-of-function alleles.
35 sites using deep sequencing of SP-resistance alleles.
36 itope datasets covering a broad range of HLA alleles.
37 imed at efficient introgression of desirable alleles.
38 tes were positively associated with the risk allele (17-58% increase/allele copy, P = 0.046-0.002), i
39 id point-of-care genotyping of CYP2C19 major alleles (*2, *3, *17) via salivary swab (genotyped group
45 ion was predominantly restricted to a single allele across different cells, introducing the concept o
48 jointly estimating selection coefficient and allele age from time series data of allele frequencies.
49 , for both the selection coefficient and the allele age, to a one-dimensional search over the selecti
50 ant differences in the distribution of SLA-1 alleles among the different pig breeds, including the br
52 those carrying a hypomorphic mutation in one allele and a missense mutation in the other are the most
53 mouse model that harbors an ATPase-deficient allele and demonstrates that mutant CHD7 retains the abi
54 omplex relationship between the expanded Htt allele and Hdac2 with implications for targeting transcr
55 ch fluorescence is driven by a gene-tracking allele and ultimately with outputs of other means of spa
57 en-presenting cells for 25 different class I alleles and greater than 800 peptides, we systematically
58 ective human leukocyte antigen (HLA) class I alleles and HIV progression is well defined, the interac
59 nship between 44 HLA class I and 28 class II alleles and percentages of activated CD8 (CD8+CD38+DR+)
60 on, greatly increasing the fractions of rare alleles and, enhancing the sensitivity of downstream det
61 OR, genetically mimicking the melon OR(His) allele, and found that it also constrains chromoplast nu
62 entification of human leukocyte antigen risk alleles, and drug-induced proliferation of lymphocytes i
63 This is because ctDNA is a mix of fragmented alleles, and the contribution of different cancer deposi
64 processing, we developed HLAthena, providing allele-and-length-specific and pan-allele-pan-length pre
66 Our analyses indicate that ADHD-associated alleles are enriched in loss of function intolerant gene
67 w their distinctive combinations of adaptive alleles are maintained despite hybridization with non-ad
69 n a piRNA cluster, indicating that repressor alleles are produced by de novo insertion at an exceptio
70 many animals including Drosophila, repressor alleles are produced by transpositional insertions into
72 er found significantly less polymorphism (11 alleles), as was expected of a non-classical MHC gene.
79 r)-binding motifs, inferred from alternative alleles at the haQTLs, implied a surprising direct assoc
83 te score (meta-analysis effect size of minor allele beta(meta) = -6.04; 95% CI: -8.13 to -3.94; P = 1
84 values < 0.05 comparing the frequency of the alleles between the isolates from subjects with gastriti
85 ic link or conduit for the passage of genes (alleles) between two others that rarely, if ever, hybrid
87 additionally generated an RFX6(HA) reporter allele by gene targeting in wild-type H9 cells to precis
88 CKR2-V41A receptor compared to the wild type allele by measuring its ligand binding affinity, CCL2 sc
89 de mechanistic insights into how CHRNA3 risk alleles can increase the risk of tobacco dependence and
92 ), but not among the other 2 phenotypes (Hp1 allele carriers) (n = 3,673; aHR: 0.95; 95% CI: 0.79 to
94 higher for patients homozygous for the minor allele carrying higher ADA risk (mean: 2,693 pg/ml) than
96 a dominant model, carriers of the rs2069705T allele compared with the rs2069705CC genotype showed a 5
97 he first documentation of a major resistance allele conferring high levels of Vip3Aa resistance in a
99 ciated with the risk allele (17-58% increase/allele copy, P = 0.046-0.002), including five gamma-glut
100 of molecular matching for DQA(1) and DQB(1) alleles could also help to minimize de novo DSA formatio
101 that KIF3A SNP rs11740584 and rs2299007 risk alleles create cytosine-phosphate-guanine sites, which a
103 t the 1-3% of patient population with single-allele DHCR7 mutations might not be ideal candidates for
105 e this, many individuals expressing HLA risk alleles do not develop hypersensitivity when exposed to
109 nalyse molecular marker data with or without allele dosage information, such as that from microarray
110 ortantly, isolation of independent insertion alleles enabled genetic confirmation of genotype-to-phen
115 ith nearly complete identity between the two alleles expressed in humans, HLA-E*01:01 and HLA-E*01:03
117 the field, using lines that contain variant alleles for the key photoperiod gene, Photoperiod-1 (Ppd
119 ow researchers to easily compute and compare allele frequencies and LD statistics of dbSNP catalogued
121 A genes were associated with large shifts in allele frequencies between catchments and in individual
125 vors of WNS, and found significant shifts in allele frequencies of genes associated with regulating a
126 We measured the corresponding changes in the allele frequencies of genomic variants responding to art
129 estimate specimen tumor purity based on the allele frequencies of variants detected in high-depth, t
130 framework by leveraging individual-specific allele frequencies projected from reference genotypes on
131 hnic groups, BAG3 rs17617337 was rare (minor allele frequencies<0.05) in Asian and African ancestry p
133 [95% 1.10-1.68]; P=0.004; CHIP with variant allele frequency >0.1: odds ratio, 1.40 [95% CI, 1.10-1.
135 ced for the identification of rare variants (allele frequency < 0.05) in 16.9 kB of SERPINA1.Measurem
136 ssociated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5
140 BigTop uses the z-axis to display minor allele frequency of each SNP, allowing for the identific
141 equencing read depth information and variant allele frequency patterns, to infer the true copy number
142 cy functional protein-coding variants (minor allele frequency, <=5%) measured by an exome array were
143 rved nucleotides, tended to have low derived allele frequency, and were depleted from promoters of es
146 ar filtration rate (rs58720902 at AQR, minor allele frequency=0.01, P=1.6x10(-8)) or urine albumin-to
150 omic variation from immigrants combined with alleles from the recipient population resulted in highly
152 acterized several mutants of dcl5, including alleles generated by the clustered regularly interspaced
153 ing the imbalance in CpG methylation between alleles genome-wide have been described but their algori
154 interaction, with higher FPS in the CC vs G allele groups among those with higher violence exposure
155 ficities is hindered by the diversity of HLA alleles (>20,000) and the complexity of many pathogen ge
158 lions of years ago, and we propose that both alleles have been maintained in the species, likely due
160 ed nomenclature guidelines and acknowledging allele history in research publications; and consider ho
161 in Delhi on one of the most prevalent HLA-B alleles, HLA-B*52:01, present in 22.5% of infected indiv
163 uired MGE-encoded genes, silencing recessive alleles if the recipient bacterium already carries a wil
164 ulatory factors that specifically bind in an allele-imbalanced manner to the fSNPs on the FGFR2 locus
166 ses significant reactivation of the inactive allele in combination with removal of methyl groups from
168 tabolic traits associated with the 1q25 risk allele in HUVECs, including impairments of the gamma-glu
169 -PAV SPE genes with expression of the silent allele in hybrids are more likely to exhibit above high
171 Combining SE deletion and KO and wild-type alleles in a genotypic series, we determined the amount
172 , to assess the evolution of ADHD-associated alleles in European populations using archaic, ancient a
175 y improved the PPV when tested on five human alleles, including some with limited data for training.
176 ic mobility shift assay suggested that the G allele interacted with CCAAT/enhancer-binding protein be
178 tional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer's d
179 isk of Alzheimer's dementia, while the APOE2 allele is associated with a lower risk of Alzheimer's de
180 (IgHR) from a nonproductively rearranged Igh allele is degraded by nonsense-mediated decay (NMD).
183 F) and show that tethering DCP1A to one Tsix allele is sufficient to drive monoallelic Xist expressio
187 ups bearing bearing hypomorphic Keap1 floxed alleles (Keap1(f/f)) with increased levels of Nrf2 to te
190 ubsequent recombination events between these allele lineages have increased the frequency of KLRA*02
191 to responses restricted by other HLA class I alleles longitudinally after control of peak viremia.
192 NAs) expressed from the maternally inherited allele ("maternally expressed") to explore the molecular
193 CoV-2, suggesting that individuals with this allele may be particularly vulnerable to COVID-19, as th
197 locus, and that evolutionary turnover of dsx alleles may underlie the wing pattern diversity of extan
199 rs per eye was fewer in patients with mosaic alleles (median, 1.0; range, 1-6) compared with patients
201 y transcripts, indicating that the DAP1 risk allele mediates enhanced autophagy, leading to the survi
203 Retreatment was associated with T(risk) allele of ARMS2 A69S (P = 2.0 x 10(-4); hazard ratio: 2.
204 aseline BCVA and AMD subtype, A (protective) allele of C2-CFB-SKIV2L rs429608 was associated with vis
206 rd ratio: 2.18:95%CI: 1.47-3.24) and C(risk) allele of CFH rs1329428 (P = 2.0 x 10(-3); hazard ratio:
207 oduce a dual epitope tag into the endogenous allele of each of 11 known components of cohesin in huma
210 tio, 0.76; P=.0027); conversely, the minor C allele of HNRNPUL1:rs15052 was associated with an increa
211 n the phase 2 validation cohort, the minor A allele of MARC1:rs2642438 was associated with reduced ri
212 l and biochemical effects of eliminating one allele of Rom1 (Rom1+/-) in three different Prph2 models
214 7%) and CG genotypes (33.1% vs. 38.9%) and G allele of rs755622 (79.6% vs. 76.1%, respectively), whil
217 Our results thus show that the paternal allele of the Cdkn1c locus plays a key role in maintenan
220 e present robust evidence for the role of an allele of the major histocompatibility complex (MHC) I g
223 c resistance correlated with the presence of alleles of 23S rRNA (A2142G/A2143G) for clarithromycin (
224 cern the mechanistic links between different alleles of a single locus and their associated pathophys
226 ntrogression of the Cape Verde Islands (Cvi) alleles of GI and ZTL into the Landsberg erecta (Ler) ba
227 ines analyzed from this screen, including 13 alleles of the gene encoding the ARABIDOPSIS HIS KINASE4
228 , pigs, goats, and cattle harboring knockout alleles of the NANOS2 gene generated by CRISPR-Cas9 edit
229 s between different types of SLF and between alleles of the same type of SLF of different S-haplotype
231 enIE), which assesses the effects of defined alleles on transcription or splicing when introduced in
232 populations because they captured coadapted alleles or by selfishly distorting the laws of Mendelian
234 binants were constructed in which 6 of the 8 alleles or genotypes (GT) of gO were analyzed in the bac
236 providing allele-and-length-specific and pan-allele-pan-length prediction models for endogenous pepti
239 At the recombinant junction, the duplication allele produces a fusion gene derived from ATAD3A and AT
241 ion (PV) of outer membrane components, multi-allele PV of restriction systems and recombination-drive
242 continuous measure which allows for precise allele quantitation in loci where the RNA alleles do not
243 onger predictor of MCM and that each derived allele reduces body size by about 1 inch and 5 pounds.
245 han the frequency of all rare BRIP1 missense alleles reported in more than 60,000 individuals of the
247 , and cells expressing a Foxp3 reporter null allele revealed that the majority of Foxp3-dependent cha
251 ana (commercials, wild/exotic) using 423 SSR alleles showed an average gene diversity (h) at 0.208 am
259 spora delbrueckii FBA1 efficiently and in an allele-specific manner, leading to DNA repair by gene co
260 nts can be derived from such data, important allele-specific mutations-such as copy-neutral loss of h
265 pt and model system for the potential use of allele-specific small interfering RNA in treating KID sy
270 with EBV-CTLs restricted by a different HLA allele (switch therapy) can also induce remissions if in
271 Here, we developed a multicolor reporter allele system to genetically label and trace polyploid c
273 nted based on recovery of a crwn4-2 missense allele that disrupts a predicted NLS and lowers the abun
275 d about how apolipoprotein E (APOE) epsilon4 allele, the best-known genetic risk for AD, affect brain
276 In contrast to a productively rearranged Igh allele, the Igh messenger RNA (mRNA) (IgHR) from a nonpr
281 ndicating that each Native American ancestry allele was associated with a 0.15-L increase in lung fun
284 RS) constructed as the sum of inherited risk alleles, weighted by allelic effects established in an i
286 e conditional alleles, constitutive knockout alleles were also obtained as byproducts of these experi
287 and 38 imputed Human Leukocyte Antigen (HLA) alleles were analyzed through a genome-wide association
290 OSC8) reduces growth of cells harboring that allele, while cells harboring the non-targeted allele re
291 A, by crossing mice bearing a floxed Rapgef2 allele with a cre mouse line driven by calcium/calmoduli
296 mozygous for the dominant P(C) Celtic POLLED allele, with horned cows (pp) and obtained six heterozyg
297 the assembly of a functional AgR gene on one allele, with subsequent feedback inhibition of V(D)J rec
299 occurs stochastically on two competing Tcrb alleles, with suboptimal Vbeta recombination signal sequ
301 Risk for childhood asthma is conferred by alleles within the 17q21 locus affecting ORMDL sphingoli