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1 m p.D519G (rs11558492; 15 heterozygotes, one homozygote).
2 est-risk genotypes (DR4-DQ8 heterozygotes or homozygotes).
3 (aHR = 3.9 [1.923-5.976], p < 0.0001 for the homozygotes).
4 = 0.04) and CFH risk alleles (P = 0.048 for homozygotes).
5 wer DNA methylation at CGI1 compared with GG homozygote.
6 to those found in the conditional Efnb2 null homozygote.
7 ed/collapsed forks compared to either single homozygote.
8 ent with the earlier age of seizure onset in homozygotes.
9 in PER3 (4) /PER3 (4) and PER3 (5) /PER3 (5) homozygotes.
10 d in the proband, but not in the other seven homozygotes.
11 e effect driven by 3 apolipoprotein epsilon4 homozygotes.
12 ies of probands identified ten additional TT homozygotes.
13 wing larger gains post-exercise than val(66) homozygotes.
14 ld potentially lead to disease if present as homozygotes.
15 omotor associative learning, compared to Val homozygotes.
16 directions and are neutral when combined in homozygotes.
17 tion that Fos is downregulated in diminuendo homozygotes.
18 istakenly calling heterozygotes as reference homozygotes.
19 eater absolute HbA1c reduction than T-allele homozygotes.
20 au and phosphorylated tau (p-tau) than Val66 homozygotes.
21 highest for GG homozygotes and lowest for AA homozygotes.
22 gnificantly higher and lower crossovers than homozygotes.
23 showed a discernible phenotype in individual homozygotes.
24 distinguishable from that of the conditional homozygotes.
25 that for placebo only in rs2832407 C-allele homozygotes.
26 with the largest reduction in variant allele homozygotes.
27 ans effects is to compare F1 hybrids with F0 homozygotes.
28 anced lung inflammation as a factor in ZZ-AT homozygotes.
29 nd myo-inositol/creatine ratios than APOE E3 homozygotes.
30 C42/IL6 decreases compared with major allele homozygotes.
31 cardiovascular disease when compared with TT homozygotes.
32 ed in IFNL4-DeltaG carriers but not IFNL4-TT homozygotes.
33 carriers, polymorphism carriers or wild-type homozygotes.
34 e carriers had less activation than A-allele homozygotes.
35 hrough adulthood, with increased severity in homozygotes.
36 B-TBOA (100 nm) mimicked the TauD changes in homozygotes.
37 p to 1.3 U/L in TA/TA homozygotes versus T/T homozygotes.
38 te infection rates separately, the resistant homozygote 119F/F genotype was significantly more associ
41 prospectively stratified by genotype (29 AA homozygotes, 27 carriers of at least 1 G allele) in a do
42 GM 3/17 heterozygotes, and lowest in GM 3/3 homozygotes (28.2, 19.0, and 8.1 microg/mL, respectively
47 al 4.1-5.2; p < 0.001) and epsilon4/epsilon4 homozygotes a 25.4 (20.4-31.2; p < 0.001) higher OR of A
49 that although Pbx1 transcripts are higher in homozygotes, amounts of PBX1 protein are significantly d
50 suggested genetic interaction, as the triple homozygote and the Irf6; Esrp1 double homozygote were no
52 ater than the median duration (>14 years): 4 homozygotes and 17 compound heterozygotes (hereafter ref
53 1); in females, it was 14.0% for p.Cys282Tyr homozygotes and 2.3% for compound heterozygotes (p < 0.0
54 ate of HH in males was 24.4% for p.Cys282Tyr homozygotes and 3.5% for compound heterozygotes (p < 0.0
55 8/12 (66.7%) classified as severe were beta homozygotes and 7/8(87.5%) had alpha globin gene deletio
56 ls, only the prkdc mutant fish reproduced as homozygotes and also survived injury after cell transpla
57 0.001) and GBA mutations or variants (seven homozygotes and compound heterozygotes and 81 heterozygo
58 cognitive and motor performances, comparing homozygotes and compound heterozygotes who carry 2 PARKI
62 NC1 result in perinatal lethal thrombosis in homozygotes and markedly increased VTE risk in heterozyg
63 ated with a high-iron phenotype in HFE C282Y homozygotes and may participate in hepcidin regulation.
66 f an association between rs12252 rare allele homozygotes and susceptibility to mild influenza (in pat
67 ant differences in mean age of onset between homozygotes and the minimal and moderate/strong impact g
68 ere were no differences between tff2(-/) (-) homozygotes and the wild type with regard to the dynamic
69 il assembly was minimally affected in mutant homozygotes, and isolated fibers displayed normal mechan
70 ntribute to the development of COPD in ZZ-AT homozygotes, and therefore merits further investigation.
74 ull homozygotes are live born, Bmp7(R-GFlag) homozygotes are embryonic lethal and have broadly reduce
76 (WT) and gamma2(Y365/367F)+/- (HT) animals (homozygotes are not viable in utero), the expression lev
79 by local ancestry and show that deleterious homozygotes arise at a higher rate when ROH overlap Afri
80 ygotes and 5.70 (95% CI, 4.66 to 6.97) among homozygotes, as compared with children who had the lowes
83 nfirmed greater (P = 0.003) efficacy for G:G homozygotes (%AUC difference = 43.7, 95%CL = 15.4, 72.1)
84 nce = 43.7, 95%CL = 15.4, 72.1) than for A:A homozygotes (%AUC difference = 6.5, 95%CL = -30.2, 43.2)
89 se palmitate uptake were markedly reduced in homozygotes but not heterozygotes for the Pro90Ser CD36
91 atistically enriched gene; one subject was a homozygote (c.362A>T [p.His121Leu]) and another a compou
97 ession of B15 class I molecules than B15/B15 homozygote cells, presumably as a result of receiving ad
99 individuals, including 36 CPVT probands (24 homozygotes/compound heterozygotes and 12 heterozygotes)
102 5 years younger in the APOL1 variant allele homozygotes (Cox proportional hazards analysis, p value
103 d higher expression levels than minor allele homozygotes; decidual trophoblasts showed strong CXCR3 i
105 e/ethnicity, age, sex, and burn size, the GG homozygotes demonstrated worse scarring (odds ratio 1.88
106 ddition, when reaching late adulthood, D673V homozygotes develop an evident bone-loss phenotype and s
107 between VS activation and WM, whereas the GG-homozygotes did not, suggesting that the effect of VS BO
108 In an outbred genetic background, Dnaaf2 homozygotes die after birth and have left/right defects
110 tex during failed-inhibition trials with Val homozygotes displaying elevated activation compared with
111 al FFA uptake was diminished in the Pro90Ser homozygotes during both suppressed and increased palmita
113 e2/e2 genotypes ('e2' carriers), 621 were e3 homozygotes ('e3' group), and 556 were e4/e3 (442) or e4
114 dults with varying doses of APOE4 - 20 APOE4 homozygotes (E4/E4), 20 heterozygotes (E3/E4) and 20 non
116 es, subjects who were GA heterozygotes or AA homozygotes exhibited a decreased risk of gastric cancer
118 campal morphology at 2 weeks of age, and all homozygotes exhibited lethal tonic-clonic seizures by mi
119 Specifically, with low childhood stress, G homozygotes exhibited lower levels of negative emotional
123 type 1 syndrome (CN1) in 28 UGT1A1 c.222C>A homozygotes followed for 520 aggregate patient-years.
124 ly high plasma HDL-C levels, we identified a homozygote for a loss-of-function variant, in which leuc
127 dentified the first PH3 patient with ESRD; a homozygote for two linked, novel missense mutations.
132 tory of childhood abuse and who were also GG homozygotes for rs110402 showed significant improvement
134 We identified 1661 heterozygotes and 17 homozygotes for the E40K variant and 75 participants who
135 effect was measured by breeding and testing homozygotes for the expected in vivo loss-of-function ph
136 vel in the TC was associated with rs3857059; homozygotes for the minor allele showed significant high
139 ion, 62 healthy men from the cohort who were homozygotes for the TT or CC genotype of the FADS1 rs174
141 ble for hereditary essential tremor and that homozygotes for this allele develop Parkinson disease.
143 tes through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 x 10(-18), OR = 7.
145 ortions of genotypes and the proline (Pro-P) homozygote groups between subsamples from different coun
146 ntrast, compared with T/T homozygotes, TA/TA homozygotes had 12% to 18% lower plasma ALT among the mo
147 fetal membranes, the rs2280964 major allele homozygotes had higher expression levels than minor alle
149 five carrying the Pro90Ser CD36 mutation (2 homozygotes had no CD36) and matched control volunteers.
150 ly 300 genes, whereas loss of Sema3d in null homozygotes had no major consequence and there was no ev
159 balanced selection, where heterozygotes and homozygotes have higher and lower reproductive fitness,
160 showed that Reln(CTRdel)/Apoer2(null) double homozygotes have phenotypes akin to those of reeler muta
163 ional FUT2 enzyme, suggesting that FUT2 null homozygote (ie, nonsecretor) individuals may not be reco
164 The perinatal mortality (>80%) observed in homozygotes (Igf2r(I1565A/I1565A)) suggested that wild-t
166 controls, with higher frequency of GM 17/17 homozygotes in AD cases as compared with controls (19.8
171 MMA concentrations than methionine-encoding homozygotes in young adults with generally low MMA conce
173 disease manifests in both heterozygotes and homozygotes, indicating a common collagen disorder impac
175 rmeability was reduced 3-fold in Tmc1 pD569N homozygotes, intermediate deficits being seen in heteroz
176 gB antibody levels were highest in GM 17/17 homozygotes, intermediate in GM 3/17 heterozygotes, and
177 ric plexus was observed only in all Ret null homozygotes, irrespective of the genotypes at Sema3d loc
178 a globin gene deletions in beta thalassaemia homozygotes is a significant factor in modulating diseas
180 A8V mutation (heterozygote=KI-TnC-A8V(+/-); homozygote=KI-TnC-A8V(+/+)) were characterized by echoca
182 ng embryonic development, we found that null homozygotes lacking any of the five different ribosomal
183 ausing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in hete
184 estinal gene expression, loss of Ret in null homozygotes led to differential expression of approximat
186 Consistent with this hypothesis, double homozygote lines combining introgression segments from t
188 od with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asy
190 of Ret wild-type, null heterozygote and null homozygote mice at E12.5, birth and weaning were not inf
191 the corpus callosum of the Gnptab Ser321Gly homozygote mice compared to wild-type littermates, while
195 cumulation compared with wild type pigs, and homozygote MSTN mutant (MSTN(-/-)) pigs had apparent DM
196 s in the identification of the wild-type and homozygote mutant genotypes compared to pyrosequencing o
197 release cohort, survival was reduced in the homozygote mutant mice, revealing strong selection again
200 show by immunohistochemistry that, in del10 homozygotes, neural crest cells fail to infiltrate the d
205 nts carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those inf
207 nce or severity of NTDs in Apob or Lp mutant homozygotes or the loop-tail phenotype in Lp mutant hete
208 OR = 10.9, 95%CL = 2.4, 50.7) than among A:A homozygotes (OR = 0.8, 95%CL = 0.2, 3.2) with statistica
209 eduction revealed greater efficacy among G:G homozygotes (OR = 10.9, 95%CL = 2.4, 50.7) than among A:
210 ositive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasm
213 nd trauma score was observed only among 'SS' homozygotes (p = 0.002) but not among 'L' allele carrier
215 0 years, the clinical duration in methionine homozygote patients appeared to be shorter than that see
217 c and early postnatal development, S324Tfs*3 homozygotes produce predominantly the shorter wild-type
220 rozygote males were more likely to mate than homozygote resistant (OR=2.36; P<0.001), suggesting a ne
221 nt fitness cost on the larval development as homozygote resistant larvae (CYP6P9a-RR) developed signi
224 as further supported by the late pupation of homozygote resistant than susceptible mosquitoes (OR = 2
229 notype, always represented by CGCG haplotype homozygotes, revealed an age-dependent heart rate-correc
230 638 - HTRA1 promoter SNP (P = 0.001) and GG (homozygote risk) genotype at rs10490924 (A69S) in LOC387
238 l 7 alpha-hydroxylase (CYP7A1-rs3808607) T/T homozygotes showed no LDL cholesterol lowering (mean +/-
239 pression analysis revealed that rs9517723 TT homozygotes showed significantly increased UBAC2 express
241 ice resulted in no viable offspring with the homozygote SM22-Cre: SCAP(flox/flox) genotype due to emb
242 ge 0-18 years), 208 (52%) showed sickle cell homozygote (SS) genotype, 113 (28%) showed sickle cell h
243 Additionally, minor allele heterozygote and homozygote subjects showed reduced cortisol and elevated
246 for the C121W mutation and was abolished in homozygotes, suggesting that loss of Nav alpha subunit m
248 both heterozygote (OR = 2.5; P = 0.012) and homozygote susceptible (L/L119) genotypes (OR = 2.10; P
249 zygote males were also more competitive than homozygote susceptible (OR=3.26; P=0.006), suggesting a
250 d significantly slower than heterozygote and homozygote susceptible mosquitoes (chi(2) = 11.2; P = 0.
251 CYP6P9a negatively impacts the fecundity as homozygote susceptible mosquitoes (CYP6P9a-SS) lay more
255 ealed a higher 90-day mortality risk among T homozygotes than among C-allele carriers (p = 0.0144) ex
256 ring negative emotional word processing in G homozygotes than in A allele carriers (p(FWE corrected)
258 binding for beta-endorphin compared with AA homozygotes that may contribute to individual difference
260 -guided attention declined with age in APOE4 homozygotes, this impairment may reflect early disease r
261 In lifetables projections for male p.C282Y homozygotes to age 75 years, the risk of primary hepatic
262 DS1(+) than KIR3DS1(-) NK cells from KIR3DS1 homozygotes to elicit anti-HIV functions such as CCL4, g
263 le were more than twice as likely as Thr 164 homozygotes to have uncontrolled, persistent symptoms du
264 lls may underlie the reduced risk of KIR3DS1 homozygotes to HIV infection.IMPORTANCE This study inves
265 p-regulation in PDE3A gene expression in DEL homozygotes treated with PDE3i was a cAMP response eleme
266 compared to AG heterozygotes whereas the AA homozygotes trended towards a protective effect against
267 PER3 (4) /PER3 (4) and 11 PER3 (5) /PER3 (5) homozygotes underwent morning light administration, whil
268 normal embryonic development of Mlkl(D139V) homozygotes until birth, and the absence of any overt ph
270 es in transferrin saturation levels (100% of homozygotes versus 37.5% of compound heterozygotes with
273 at rs10063949 (G allele for heterozygote and homozygote) was associated with increased susceptibility
274 cant differences in offspring of rs174602 CC homozygotes (WAZ: -0.26 +/- 0.09 in the intervention gro
277 and fertile, although slightly smaller, and homozygotes were born at lower frequency than expected,
278 diac structural alterations; in contrast, no homozygotes were detected at birth, suggesting a lethal
283 Hb S heterozygotes and alpha(+)thalassemia homozygotes were protected from severe malaria (odds rat
288 ary airway epithelial cell cultures (F508del homozygotes) were used to determined ENaC activity (Ussi
289 n with the HLA haplotype DR3-DQ2, especially homozygotes, were found to be at high risk for celiac di
290 cription factor activity may be amplified in homozygotes, whereas it is buffered in heterozygotes.
291 risk for relapse to heavy drinking in the AA-homozygotes, whereas this effect could not be observed i
293 bjects with Chuvash polycythemia (VHL(R200W) homozygotes with constitutive upregulation of hypoxia-in
294 oad response was greater in lungs from ZZ-AT homozygotes with COPD, and was particularly found in pul
295 ome sequencing of DNA from 35 male HFE C282Y homozygotes with either markedly increased iron stores (
298 igher mutation rate in heterozygotes than in homozygotes, with mutations occurring in closer proximit
299 dren with 2 FLG LOF alleles or TSLPrs1898671 homozygotes, with no significant difference observed bet