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1 MFN2 mutations and at least one p.Arg707Trp allele.
2 for the first time, to be a loss of function allele.
3 ") in a way that is harmless for a wild-type allele.
4 IgG3 compared to those without the IgG3-H435 allele.
5 ed reduced expression from the mutant MYBPHL allele.
6 racterization of mice harboring a null Upf3b allele.
7 nly when the mutations occur on the maternal allele.
8 f the gene, generating the {for(BAC)} rescue allele.
9 ene segment corresponding to the IGHV4-61*02 allele.
10 factor apolipoprotein E (APOE) varepsilon3/4 allele.
11 odds ratio multiplied by the number of risk alleles.
12 sitivity to AMA1 alleles and 42%-52% to MSP2 alleles.
13 nses were more common in RA patients with SE alleles.
14 hypo-competition phenotype for four of these alleles.
15 shown in C. albicans using conditional TOR1 alleles.
16 uppression, indicating they function as null alleles.
17 in of SIV in animals with TRIM5a restrictive alleles.
18 thylated or unmethylated minority-epigenetic-alleles.
19 ting both conditional and targeted insertion alleles.
20 presented in existing repositories of immune alleles.
21 th specific major histocompatibility complex alleles.
22 database containing all currently known fimH alleles.
23 geny from a backcross segregating MRL and B6 alleles.
24 ctional tumor suppressor genes by the mutant alleles.
25 city when individuals did not carry epsilon4 alleles.
26 s that modulates the effects of target-locus alleles.
27 e, which is caused by mutations in both GALC alleles.
28 4) generates both null and other informative alleles.
29 d group, had a higher frequency of two APOL1 alleles (1.0% versus 0.1%) and the HBB variant (2.0% ver
35 a)pyrene exposure of skin shows that SNP309G allele actually protects against squamous cell carcinoma
36 wever, it is largely unknown which genes and alleles adjust plant growth in Fe limited environments.
40 ct against re-targeting the 'knockout-first' allele and identify essential genes in ES cells, includi
41 r results were obtained with the weak vip3-6 allele and in vip6, a mutant for another Paf1c subunit.
42 y deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, inte
46 auxin response, we screened mpk insertional alleles and identified mpk1-1 as a mutant that displays
47 lysis of two independent L. japonicus mutant alleles and investigated the regulation of ERN1 via tran
50 tions to build up between haploid-beneficial alleles and the sex that experiences haploid selection m
51 control strain, diet, presence of the misty allele, and parity as potential contributors to the lost
52 delete foraging, generating the for(0) null allele, and used recombineering to reintegrate a full co
53 gent allele frequencies and the most private alleles, and observed heterozygosity indicates outcrossi
54 n of mutants) are candidate hypo-competition alleles, and we confirmed the hypo-competition phenotype
55 ismatches between donor and patient in these alleles are associated with an increased risk of graft-v
56 rican ancestry carrying certain APOL1 mutant alleles are at elevated risk of developing renal disease
57 milarly, some individuals that carry disease alleles are nevertheless healthy despite affected family
58 evidence demonstrating that these APOL1 risk alleles are pathogenic is still lacking because the APOL
59 henotypic selection, we show that eYHB-based alleles are robust substitutes for antibiotic/herbicide-
60 ly among patients carrying APOBEC3B-deletion alleles, as examined in a second cohort (n = 188; p = 0.
61 nns (frequency 1.1%), with the low-frequency allele associated with an increase in fasting plasma ins
62 d by dietary fat composition, with the APOE4 allele associated with greater LDL-cholesterol elevation
64 and specificity in predicting the number of alleles associated with complex traits in each locus.
68 Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing
69 role in CM-specific survival, with an effect-allele-attributed hazards ratio (adjusted hazards ratio)
70 election most often (e.g., pollen beneficial alleles become strongly associated with the male determi
71 elative reduction of the KIT D816V expressed allele burden (EAB) at month 6, patients were classified
73 and ruxolitinib showed reduction of mutated allele burden, and ruxolitinib might extend survival of
74 RHGAP29 in vivo, we generated a novel murine allele by inserting a point mutation identified in a pat
76 inant ZSD in whom a heterozygous mutant PEX6 allele (c.2578C>T [p.Arg860Trp]) was overrepresented due
77 -nucleotide polymorphism: rs149133391, minor allele [C] frequency = 0.01, P = 7.9 x 10(-9)) and 4 mor
78 binding in promoter-binding assays, and risk allele carriage diminished transcriptional correlations
79 a gene-by-environment interaction for minor allele carrier status at the TLR4 haplotype defined by r
81 x uptake in apolipoprotein E (APOE) epsilon4 allele carriers than in noncarriers in participants (mea
84 ombination of eol1 with the curly leaf (clf) allele, carrying a mutation in the catalytic core of PRC
88 as particularly strong; each copy of the Thr allele conferred 42% lower triglycerides (beta=-0.92+/-0
89 nse, has resulted in elevated frequencies of alleles conferring survival advantages for infectious di
93 eotide polymorphisms on stroke risk per risk allele, corresponding to a one allele increase in the my
94 CRTC2 knockout mice that express one CRTC3 allele (CRTC2/3m mice) develop neutrophilia and splenome
97 n, but infants carrying the alternative OXTR allele did not exhibit as great a separation response.
98 une receptors and that the addition of novel alleles discovered from genome sequence data are likely
100 how how genetic transfer of host segregating alleles, distributed as predicted for niche specifying g
104 , abstinent smokers with the withdrawal risk allele experienced greater alleviation of their urges to
105 recombination generates a Notch2(DeltaPEST) allele expressing a Notch2 mutant lacking the PEST domai
106 6156 genes) that contrasted the preferential allele expression of between 2180 and 3502 and 3367 and
108 ondary structure of the paRNA, with the risk allele facilitating the assembly of the microRNA-guided
109 is metacyclic promastigotes lacking one SODA allele failed to replicate in macrophages and were sever
113 r, all humanized strains representing common alleles found in cancer patients failed to complement in
115 eveloped for this purpose assume that marker allele freque218 in a population are known without error
116 Finally, we considered the transition of allele frequencies across geographic space and suggest t
118 ion with low nucleotide diversity, divergent allele frequencies and the most private alleles, and obs
119 ls, there were no significant differences in allele frequencies between affecteds and controls (C/TTC
120 le maintaining the ability to correctly call allele frequencies of known single nucleotide variants.
124 heterozygote frequencies among populations (allele frequencies: African = 0.0016; East Asian = 0.004
126 s common among full-heritage Pima Indians (A allele frequency =0.54) but is monomorphic in the 1000 G
127 sociation with diabetes risk (combined minor allele frequency [MAF] 0.22%; odds ratio [OR] 2.02; 95%
130 iant-specific prior information derived from allele frequency databases, consequence prediction algor
133 s study, the consistency of increase in 132L allele frequency suggests pathogen-mediated selection ha
134 cancer cell lines with increased KRAS mutant allele frequency were more sensitive to MAP kinase inhib
136 lift, loci can exhibit conspicuous seasonal allele-frequency fluctuations, but often fluctuations ma
139 d cardiomyocytes mutated to carry the effect allele had diminished contractile activity when compared
140 a functional configuration, while the second allele has recombined only the DJ sequences; the other 4
142 Furthermore, independently of the MICA*008 allele, higher levels of soluble MICA proteins were dete
143 l genetic backgrounds, and of two additional alleles, HttQ92 and HttQ50, on the C57BL/6J background.
145 iorated the defects of only a subset of pex6 alleles, implying that decreased PEX5 is not the sole mo
146 cell receptor beta (TCRbeta) V-to-DJ-joined allele in a functional configuration, while the second a
150 We identified leafy (lfy) and apetala1 (ap1) alleles in a mutant screen for floral regulators in C. h
151 ion of functionality between galE1 and galE2 alleles in meningococcal isolates was retained for all s
155 e, enabling the establishment of conditional alleles in zebrafish by generating intronic insertions v
156 risk per risk allele, corresponding to a one allele increase in the myeloperoxidase increasing geneti
158 RNA-lipid complexes targeting the Tmc1(Bth) allele into the cochlea of neonatal Tmc1(Bth/+) mice sub
160 nuclear protein interactions, where the risk allele is associated with increased SLC4A7 expression le
162 approaches, we show that the white recessive allele is due to a splice donor site mutation in the sca
166 CRISPR-Cas9 genome editing to make a single allele knock-in of the most commonly mutated amino acid
167 CRC that harbors an inducible oncogenic Kras allele (Kras(mut) ) and conditional null alleles of Apc
168 tor ZEB1 binds preferentially to the nonrisk allele, leading to an increase in GUCY1A3 expression, hi
170 d 1199 paediatric donor-recipient pairs with allele-level HLA matching who received a single unit umb
173 promoting the overrepresentation of a mutant allele might also play a role in other autosomal-recessi
174 ized that human genes and disease-associated alleles might be systematically functionally annotated u
175 s study, we generated an inducible Drd2 null-allele mouse strain that circumvented developmental comp
177 y, we report the identification of a natural allele of a C2H2-type transcription factor in rice that
178 (P > 0.05) in AAs, AA women who carried the allele of a functional single nucleotide polymorphism rs
181 SOD1(G37R) mice expressing a conditional allele of an ALS-linked SOD1 mutation were crossed with
183 The previously characterized L407F mutant allele of Arabidopsis cry1 is biologically hyperactive a
184 method can be used to silence the endogenous allele of ataxin 7 and replace it with an exogenous copy
186 auses embryonic lethality, and that a single allele of either CRTC2 or CRTC3 is sufficient for viabil
187 b10-sgb13) identified, sgb11 is a new mutant allele of ESKIMO1 (ESK1), which encodes a plant-specific
188 abidopsis mutant line harbouring a different allele of gene GRIK1 (grik1-2 grik2-1) that grows simila
191 We further demonstrate that loss of one allele of PTEN is sufficient to shift isoform dependency
195 efficiently after inactivation of the sec7-1 allele of Sec7, which controls transit through the Golgi
200 In contrast, expression of the wildtype allele of wag31 in APYS1-resistant M. tuberculosis was d
203 d to 86% when individuals carried one or two alleles of epsilon4, and to 72% sensitivity and 77% spec
204 ein overexpressing model harboring wild-type alleles of GBA, A53T-SNCA mouse model) were exposed to a
205 erved genes suggesting selection of specific alleles of genes responsible for biological processes co
206 By repairing the deletion, we resurrected 11 alleles of KIR2DP1(F) , the functional antecedent of KIR
207 s failed to identify any large-effect coding alleles of lower frequency influencing the risk of diabe
208 ldren, antibodies to different AMA1 and MSP2 alleles of merozoites, IE surface antigens, and antibody
210 the transcription start site of ARID5B, that alleles of rs7090445 have differential enhancer activity
212 tations that were represented in >20% of the alleles of the tumor biopsy with >90% sensitivity and ap
215 trate the overall enrichment of disease risk alleles on gene regulatory regions, they are not designe
216 HI) cells had uniformly recombined both Tcrb alleles (one predicting a functional and the other predi
217 ation was limited to children with 2 FLG LOF alleles or TSLPrs1898671 homozygotes, with no significan
218 onfidence interval, 0.32-0.54] kg/m(2) per A-allele, P<0.001; BMI gene score: 1.05 [95% confidence in
219 F (FTO, hazard ratio, 1.07 [1.02-1.11] per A-allele, P=0.004; BMI gene score, hazard ratio, 1.11 [1.0
220 n several existing methods when there is one allele per species, although STELLS2 is slower than thes
221 cells expressing Jun, at least two of three alleles per cell were induced, a sign of high expression
222 rast, the PKC pancreata bearing a Grp78(f/+) allele (PKC78(f/+) mice) expressing about 50% of GRP78 m
226 copies (homeologs, paralogs, and segregating alleles) present in each of three sets of 50 mostly poly
227 is tool uses a model-based method to compare allele read fractions at known single-nucleotide polymor
229 or edited allele of AMD1 but not un-editable allele rescued the defects of amd1 in ascospore discharg
231 d in IO IBD patients with two mutated ANKZF1 alleles result in dysfunctional ANKZF1, as shown by an i
233 d analysis of lines carrying rock2 and rock3 alleles revealed how plants respond to locally enhanced
235 ediated replacement of WT KRAS with a mutant allele sensitized heterozygous mutant HCT116 cells to tr
237 g empirical estimates of identity-by-descent allele sharing may be useful for studies of complex trai
238 tory elements in diploid organisms may cause allele specific expression (ASE) - unequal expression of
239 ere, we propose SCALE to analyze genome-wide allele-specific bursting, with adjustment of technical v
242 f expression quantitative trait loci, and by allele-specific enhancer loops in patient-derived primar
243 le Bayesian statistical approach to quantify allele-specific expression (ASE) in complex RNA-seq data
245 ng a causal variant and causal mechanism for allele-specific expression and disease association at th
246 esults show that gene isoform expression and allele-specific expression cooperate to provide high div
251 rt the identification of 337 high-stringency allele-specific H3K4me3 and H3K36me3 peaks in maize endo
252 igh differentiation-induced variability, our allele-specific method detected thousands of quantitativ
253 the capabilities of the method by inferring allele-specific methylation and nucleosome occupancy in
254 emergence of real-time PCR assays utilizing allele-specific molecular detection technology that is h
255 and quantified by 4-color flow cytometry or allele-specific oligonucleotide real-time quantitative p
256 otyping pipeline utilizing KASP (Kompetitive Allele-Specific PCR) genotyping technology to create sca
258 98 using HepG2 cell line demonstrated strong allele-specific promoter and enhancer activity and diffe
261 recessive and functionally null I/LnJ H2-Ob allele supported the production of virus-neutralizing an
263 such requirements, we used a V(D)J passenger allele system to assay, in mouse GC B cells, sequence-in
265 nables parallel, independent manipulation of alleles targeted by Cas9 and traditional recombinase wit
267 -11 isolates were positive for the five gene alleles tested by PCR; however, 5 to 36% of field isolat
269 at c.254-649T > G CLRN1 represents a founder allele that may significantly contribute to deafblindnes
270 uited for studies on the clinical effects of alleles that are rare in general populations but occur a
271 eated Lym1K, a collection of immune receptor alleles that combines known, well-supported alleles with
273 within and across independent loci, T2D risk alleles that overlap with RFX footprints uniformly disru
274 f promoters generates diverse cis-regulatory alleles that provide beneficial quantitative variation f
275 nsight into spanin function, pseudorevertant alleles that restored plaque formation for lysis-defecti
276 erotype-matched invasive strain, the carrier allele (the gene encoding the LiaS protein with an argin
277 create expression variation of homoeologous alleles through protein-protein and protein-DNA interact
278 allele causes later flowering than the wild allele under short day and exhibits a signature of selec
279 of the proximal versus distal PAS, with some alleles using only the proximal PAS, and others using bo
280 ription assays demonstrated that the minor T allele variation at rs604723 increased the activity of t
284 Wag31 target demonstrated that the wild-type allele was dominant and showed no synergy with the inhib
286 7B(K832R) Alzheimer's disease susceptibility allele was found, for the first time, to be a loss of fu
287 s with 0, 1, or 2 FLG loss of function (LOF) alleles was compared as well as those that were wildtype
290 -DR molecules encoded by shared-epitope (SE) alleles were predicted to bind these self- and microbial
291 s-infected PHHs from individuals with the dG allele, where it was poorly secreted but highly function
292 e 3' untranslated region (UTR) of the mutant allele, which disrupts the most distal of two polyadenyl
293 e patients were found to possess an expanded allele, which was associated with a reduction in the qua
294 share three mutations with the large-library alleles, which are known from previous work, but also ha
295 ample, some hypertension and type 2 diabetes alleles will be associated with BMI in sample sizes of >
296 ntial to rapidly replace a harmful wild-type allele with a gene drive allele engineered to have desir
297 evated in carriers of the GABRA6 rs3219151 T allele with several independent markers and predictors o
298 alleles that combines known, well-supported alleles with novel alleles found in the 1000 Genomes Pro
299 ind that the Tianyuan individual shares more alleles with some Native American groups in South Americ
300 recombined the V to the DJ segments on both alleles, with only one of the two alleles predicting a f
301 t, under realistic scenarios, common disease alleles would become associated at P < 5 x 10- 8 with di
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