ライフサイエンスコーパス: homozygote

1 m p.D519G (rs11558492; 15 heterozygotes, one homozygote).

2 est-risk genotypes (DR4-DQ8 heterozygotes or homozygotes).

3 to those found in the conditional Efnb2 null homozygote.

4 ed/collapsed forks compared to either single homozygote.

5 s classifying the heterozygote as the common homozygote.

6 wer DNA methylation at CGI1 compared with GG homozygote.

7 in PER3 (4) /PER3 (4) and PER3 (5) /PER3 (5) homozygotes.

8 showed a discernible phenotype in individual homozygotes.

9 distinguishable from that of the conditional homozygotes.

10 that for placebo only in rs2832407 C-allele homozygotes.

11 with the largest reduction in variant allele homozygotes.

12 ans effects is to compare F1 hybrids with F0 homozygotes.

13 anced lung inflammation as a factor in ZZ-AT homozygotes.

14 nd myo-inositol/creatine ratios than APOE E3 homozygotes.

15 C42/IL6 decreases compared with major allele homozygotes.

16 cardiovascular disease when compared with TT homozygotes.

17 ed in IFNL4-DeltaG carriers but not IFNL4-TT homozygotes.

18 carriers, polymorphism carriers or wild-type homozygotes.

19 e carriers had less activation than A-allele homozygotes.

20 2.1 years for treated VTTT heterozygotes or homozygotes.

21 and the genomic distribution of nondamaging homozygotes.

22 ultiple correctly targeted clones, including homozygotes.

23 d in the proband, but not in the other seven homozygotes.

24 1), but not in heterozygotes or major allele homozygotes.

25 cardioprotective, especially in minor allele homozygotes.

26 e effect driven by 3 apolipoprotein epsilon4 homozygotes.

27 , with the risk substantially increasing for homozygotes.

28 revents the pathological changes observed in homozygotes.

29 lting in smaller HC volumes compared with GG homozygotes.

30 inutes in rs7221412(GG) versus rs7221412(AA) homozygotes.

31 ies of probands identified ten additional TT homozygotes.

32 wing larger gains post-exercise than val(66) homozygotes.

33 ld potentially lead to disease if present as homozygotes.

34 omotor associative learning, compared to Val homozygotes.

35 directions and are neutral when combined in homozygotes.

36 tion that Fos is downregulated in diminuendo homozygotes.

37 istakenly calling heterozygotes as reference homozygotes.

38 eater absolute HbA1c reduction than T-allele homozygotes.

39 ent with the earlier age of seizure onset in homozygotes.

40 au and phosphorylated tau (p-tau) than Val66 homozygotes.

41 gnificantly higher and lower crossovers than homozygotes.

42 ) (n = 144), both as heterozygotes (1/2) and homozygotes (1/1).

43 here were 14% to 16% of APOL1 variant allele homozygotes (2 copies of G1/G2) across cohorts.

44 For met/met homozygotes, 2 mA resulted in significantly poorer perfo

45 prospectively stratified by genotype (29 AA homozygotes, 27 carriers of at least 1 G allele) in a do

46 GM 3/17 heterozygotes, and lowest in GM 3/3 homozygotes (28.2, 19.0, and 8.1 microg/mL, respectively

47 7.60 mg/L; heterozygote 316.72+/-88.02 mg/L; homozygote 331.04+/-85.40 mg/L; P=8.3x10(-13)) but not w

48 II homozygotes (37.9% vs 19.1%) and I allele carriers (56.3

49 CHOP protein was increased in homozygotes (384%).

50 type and heterozygous lenses but elevated in homozygotes (391%).

51 ere obtained for mutation carriers (95 Val66 homozygotes, 48 Met66 carriers).

52 ro homozygote carriers between controls (Pro homozygote 95% CI, 18.67-33.52) and cases (Pro homozygot

53 mozygote 95% CI, 18.67-33.52) and cases (Pro homozygote 95% CI, 5.1-10.2).

54 Pro129/Pro129 homozygotes also showed greater placebo-induced mu-opioi

55 ring observed and expected rates of pairs of homozygote and heterozygote genotypes at low-frequency v

56 erase [AST]) were compared between 162 C282Y homozygotes and 1,367 nonhomozygotes with serum ferritin

57 Haplotype analysis of 4 homozygotes and 11 heterozygotes for c.5461-10T-->C and

58 ater than the median duration (>14 years): 4 homozygotes and 17 compound heterozygotes (hereafter ref

59 1); in females, it was 14.0% for p.Cys282Tyr homozygotes and 2.3% for compound heterozygotes (p < 0.0

60 ate of HH in males was 24.4% for p.Cys282Tyr homozygotes and 3.5% for compound heterozygotes (p < 0.0

61 ls, only the prkdc mutant fish reproduced as homozygotes and also survived injury after cell transpla

62 0.001) and GBA mutations or variants (seven homozygotes and compound heterozygotes and 81 heterozygo

63 cognitive and motor performances, comparing homozygotes and compound heterozygotes who carry 2 PARKI

64 In contrast, hearts from homozygotes and heterozygotes showed normal morphology,

65 t is available for the identification of A-T homozygotes and heterozygotes, which is essential for di

66 cantly lower in Ala carriers than in Pro/Pro homozygotes and in case subjects with renal, cardiovascu

67 ty of cost-effective, early diagnosis of A-T homozygotes and large-scale screenings for heterozygotes

68 ated with a high-iron phenotype in HFE C282Y homozygotes and may participate in hepcidin regulation.

69 r between preclinical mutation carrier Val66 homozygotes and Met66 carriers.

70 eveloped less severe cystic disease than jck homozygotes and provided genetic evidence that the jck a

71 loss-of-function led to absence of Dnd1KO/KO homozygotes and significantly reduced numbers of Dnd1+/K

72 f an association between rs12252 rare allele homozygotes and susceptibility to mild influenza (in pat

73 ant differences in mean age of onset between homozygotes and the minimal and moderate/strong impact g

74 rriers were compound heterozygotes, 25% were homozygotes, and both groups inherited glaucoma as an au

75 il assembly was minimally affected in mutant homozygotes, and isolated fibers displayed normal mechan

76 ntribute to the development of COPD in ZZ-AT homozygotes, and therefore merits further investigation.

77 ozygous, in a process we refer to as "forced homozygote approach".

78 ic (all heterozygotes are comparable and all homozygotes are comparable in terms of fitness) or asymm

79 Matr3(Gt-ex13) homozygotes are early embryo lethal, but Matr3(Gt-ex13)

80 (WT) and gamma2(Y365/367F)+/- (HT) animals (homozygotes are not viable in utero), the expression lev

81 In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed

82 G37S homozygotes are perinatal lethal, in contrast to the ear

83 ts, genotyping errors classifying the common homozygote as the heterozygote inflate the type I error

84 ygotes and 5.70 (95% CI, 4.66 to 6.97) among homozygotes, as compared with children who had the lowes

85 ructure was absent in the yolk sac of Drosha homozygotes at E14.5.

86 In rsw1-1 homozygotes at restrictive temperature, a striking disso

87 F, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis.

88 Among obese individuals, C-allele homozygotes at rs8192675 had a 0.33% (3.6 mmol/mol) grea

89 -frequency haplotypes that have a deficit of homozygotes at the population level.

90 Specifically, val/val homozygotes benefited most from 1.5 mA tDCS on Visual WM

91 There were 493 Arg 389 beta(1) receptor homozygotes (beta(1)389 Arg/Arg) versus 547 Gly389 carri

92 GG homozygotes but not A-allele carriers showed strong gray

93 uencing confirmed that all SC plants were S1 homozygotes but not all S1 homozygotes were SC.

94 se palmitate uptake were markedly reduced in homozygotes but not heterozygotes for the Pro90Ser CD36

95 Homozygotes, but not heterozygotes, developed Parkinson

96 atistically enriched gene; one subject was a homozygote (c.362A>T [p.His121Leu]) and another a compou

97 heterozygote carriers (130/213), and 74% of homozygote carriers (43/58).

98 Analysis of Pro homozygote carriers between cases and controls revealed

99 R, 39.66%; RP, 52.64%; PP, 7.69%) and in Pro homozygote carriers between controls (Pro homozygote 95%

100 iers of one 9R-allele of DAT1 (compared with homozygote carriers of the 10R-allele) show heightened r

101 The corresponding HR for hetero- and homozygote carriers of the CYP2C19*17 allele were 1.02 (

102 els of soluble IL-6R (P = 4 x 10(-14)), with homozygote carriers showing a 2-fold increase.

103 n human primary immune cells from TLR5 616LL homozygote carriers, as compared with 616FF carriers.

104 .42) and 0.79 (CI 0.32-1.94) for hetero- and homozygote carriers, respectively.

105 e; heterozygote carriers: 81% [698/866]; and homozygote carriers: 86% [277/322]).

106 Compared with rs10455872 AA homozygotes, carriers of 1 or 2 G alleles were at increa

107 ession of B15 class I molecules than B15/B15 homozygote cells, presumably as a result of receiving ad

108 an TG value was 25.1% higher in ABCB1 1236TT homozygotes compared with ABCB1 1236C carriers and was 1

109 d increases in radial diffusivity in Val/Val homozygotes compared with Met-allele carriers, particula

110 GBA homozygotes/compound heterozygotes had lower enzymatic a

111 d mortality compared to Asyn heterozygote or homozygote control mice.

112 5 years younger in the APOL1 variant allele homozygotes (Cox proportional hazards analysis, p value

113 d higher expression levels than minor allele homozygotes; decidual trophoblasts showed strong CXCR3 i

114 eu mutation were phenotypically normal while homozygotes demonstrated a dwarf phenotype.

115 between VS activation and WM, whereas the GG-homozygotes did not, suggesting that the effect of VS BO

116 Homozygotes die perinatally with a severe peripheral ner

117 Homozygotes died perinatally, and E18.5 embryos exhibite

118 tex during failed-inhibition trials with Val homozygotes displaying elevated activation compared with

119 Individuals who were homozygotes, double heterozygotes, or carriers of mutati

120 al FFA uptake was diminished in the Pro90Ser homozygotes during both suppressed and increased palmita

121 in heterozygotes compared with both types of homozygotes during cognitive engagement.

122 es, subjects who were GA heterozygotes or AA homozygotes exhibited a decreased risk of gastric cancer

123 S408/9A homozygotes exhibited increased phasic, but decreased to

124 Specifically, with low childhood stress, G homozygotes exhibited lower levels of negative emotional

125 Homozygotes experience deficiency in the lung concomitan

126 None of four homozygotes expressed any signs of JBTS, and one of them

127 action of all genome-wide predicted damaging homozygotes fall in ROH than would be expected from the

128 ly high plasma HDL-C levels, we identified a homozygote for a loss-of-function variant, in which leuc

129 Postmortem human cortices homozygote for the minor rs17228616 allele showed AChE e

130 hy family members are either heterozygote or homozygote for the reference allele.

131 dentified the first PH3 patient with ESRD; a homozygote for two linked, novel missense mutations.

132 Homozygotes for ABCA1 mutations exhibited enhanced oral

133 y members, and unrelated individuals who are homozygotes for an AJ founder mutation.

134 ive mating disadvantage was detected in male homozygotes for both kdr/RDL-resistant alleles.

135 lele (53.1 vs. 32.3%; P=0.013) compared with homozygotes for G-allele (n=31).

136 ymptomatic course of HSV-1 infection only in homozygotes for G1m3.

137 ous for the haplotype: for breast cancer and homozygotes for haplotype CAGCT, hazard ratio = 3.40, 95

138 erval: 3.00, 18.37; and for brain cancer and homozygotes for haplotype CGGCT, hazard ratio = 13.48, 9

139 tory of childhood abuse and who were also GG homozygotes for rs110402 showed significant improvement

140 ce of rare recessive diseases that represent homozygotes for strongly deleterious mutations, inbreedi

141 Homozygotes for the ancestral A allele had impairments i

142 We identified 1661 heterozygotes and 17 homozygotes for the E40K variant and 75 participants who

143 effect was measured by breeding and testing homozygotes for the expected in vivo loss-of-function ph

144 vel in the TC was associated with rs3857059; homozygotes for the minor allele showed significant high

145 le carriers showed less activation than male homozygotes for the non-risk allele, while females showe

146 Homozygotes for the PSC disease risk allele (AA) showed

147 Homozygotes for the risk allele produced more than four

148 Minor allele homozygotes for the variant rs6128 were less likely to d

149 or lack of an unfolded protein response, and homozygotes for the weakest allele could be propagated.

150 ble for hereditary essential tremor and that homozygotes for this allele develop Parkinson disease.

151 Eight patients were homozygotes for this mutation and 2 siblings were compou

152 tes through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 x 10(-18), OR = 7.

153 We have routinely collected 100,000 or more homozygotes from a mixed starting population within 2 h,

154 Effects were recessive, with minor allele homozygotes gaining extreme amounts of weight during the

155 ortions of genotypes and the proline (Pro-P) homozygote groups between subsamples from different coun

156 fetal membranes, the rs2280964 major allele homozygotes had higher expression levels than minor alle

157 In the healthy volunteer group, risk allele homozygotes had increased total WM volume compared with

158 ho received NTX, DAT1 10-repeat-allele (10R) homozygotes had less activation than 9-repeat-allele (9R

159 K40 homozygotes had markedly lower levels of triglycerides a

160 five carrying the Pro90Ser CD36 mutation (2 homozygotes had no CD36) and matched control volunteers.

161 ly 300 genes, whereas loss of Sema3d in null homozygotes had no major consequence and there was no ev

162 All three homozygotes had very low levels of LPL in the preheparin

163 These homozygotes had, on average, 46% higher MMA concentratio

164 fter administration of a thiopurine, whereas homozygotes have a 17% risk.

165 d that neurons from mutant heterozygotes and homozygotes have a lower action potential (AP) initiatio

166 I249M280 homozygotes have an independent increased risk of cancer

167 No homozygotes have been reported for these changes in cont

168 infer that Reln(CTRdel)/Apoer2(null) double homozygotes have both receptor pathways disrupted.

169 vanillic acid, our results indicate that Met homozygotes have higher presynaptic dopamine levels in f

170 showed that Reln(CTRdel)/Apoer2(null) double homozygotes have phenotypes akin to those of reeler muta

171 rdiovascular event or death compared with GG homozygotes (hazard ratio, 2.62; 95% confidence interval

172 ional FUT2 enzyme, suggesting that FUT2 null homozygote (ie, nonsecretor) individuals may not be reco

173 yperferritinemia are more likely to be C282Y homozygotes if they have normal liver transaminase activ

174 We identified 22 rs12252_C homozygotes in 185 white non-Hispanic children.

175 om the corresponding fraction of nondamaging homozygotes in ROH (p < 0.001).

176 lected by an under-representation of S-locus homozygotes in selfed progeny.

177 ons in G-allele carriers as compared with AA-homozygotes in the bilateral amygdala.

178 ively, causing considerable morbidity in the homozygotes in these populations.

179 MMA concentrations than methionine-encoding homozygotes in young adults with generally low MMA conce

180 in cKit(V558Delta) heterozygotes, whereas in homozygotes, increased apoptosis and inefficient migrati

181 disease manifests in both heterozygotes and homozygotes, indicating a common collagen disorder impac

182 , except in hypomorphic p.Val16Gly (c.47T>G) homozygote individuals, whose cilia retained a stiff and

183 n trial in cognitively unimpaired APOE-e4/e4 homozygote individuals.

184 gB antibody levels were highest in GM 17/17 homozygotes, intermediate in GM 3/17 heterozygotes, and

185 ric plexus was observed only in all Ret null homozygotes, irrespective of the genotypes at Sema3d loc

186 A8V mutation (heterozygote=KI-TnC-A8V(+/-); homozygote=KI-TnC-A8V(+/+)) were characterized by echoca

187 dentified in a forward genetic screen, noddy homozygotes lack inner ear function.

188 ausing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in hete

189 e, 5 years earlier for T/T compared with C/C homozygotes, leading to stronger association in patients

190 estinal gene expression, loss of Ret in null homozygotes led to differential expression of approximat

191 In both heterozygotes and homozygotes, levels of calreticulin protein were increas

192 Consistent with this hypothesis, double homozygote lines combining introgression segments from t

193 lucocorticoid-treated patients who were IAAM homozygotes lost ambulation at 12.5 +/- 3.3 years compar

194 Homozygote LRP6(R611C) (LRP6(mut/mut)) mice exhibited bo

195 (>75%), A-T heterozygotes (40%-56%), and A-T homozygotes (<30%).

196 od with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asy

197 Individuals carrying the homozygote MC1R risk haplotype looked on average up to 2

198 Compared with Val homozygotes, Met carriers had higher rCBF in prefrontal

199 of Ret wild-type, null heterozygote and null homozygote mice at E12.5, birth and weaning were not inf

200 ma3d locus, and Sema3d null heterozygote and homozygote mice had normal intestinal innervation.

201 eutzfeldt-Jakob disease have been methionine homozygotes (MM).

202 genetic manipulation are required to achieve homozygote modifications, the entire process takes appro

203 cumulation compared with wild type pigs, and homozygote MSTN mutant (MSTN(-/-)) pigs had apparent DM

204 s in the identification of the wild-type and homozygote mutant genotypes compared to pyrosequencing o

205 release cohort, survival was reduced in the homozygote mutant mice, revealing strong selection again

206 Compared with FKBP5, GG homozygotes (N=118), A-allele carriers (N = 132) without

207 idence interval: 1.48-5.73) compared with TT homozygotes (n=270).

208 sk of myocardial infarction compared with GG homozygotes (odds ratio, 2.03; 95% confidence interval,

209 0.04), while heterozygotes and minor allele homozygotes of rs1059513 had increased TNF-alpha and Gra

210 Minor allele homozygotes of rs174545, rs174583, rs174561, and rs17453

211 Heterozygotes and minor allele homozygotes of rs324011 had low levels of tumor necrosis

212 Heterozygotes and minor allele homozygotes of rs324011 presented a lower risk of atopic

213 In minor allele homozygotes of rs324011, expression of Treg-associated g

214 andem repeat polymorphism (VNTR) and for 6/6 homozygotes of SLC6A3 30 bp VNTR.

215 Homozygotes of the p.Glu257Lys variant in most persons a

216 on ACEi progressively increased from Pro/Pro homozygotes on ACEi (hazard ratio 2.80 [95% CI 0.849-9.2

217 1.58 [0.737-3.379], respectively) to Pro/Pro homozygotes on non-ACEi (4.77 [1.484-15.357] and 1.99 [0

218 a similar phenotype failed to detect further homozygote or compound heterozygote mutations.

219 Homozygotes or compound heterozygotes for the R200W germ

220 nce or severity of NTDs in Apob or Lp mutant homozygotes or the loop-tail phenotype in Lp mutant hete

221 y deleting the Tnfalpha gene on a Tshr(-/-) (homozygote) or Tshr(+/-) (heterozygote) background resul

222 genotype had thinner choroids than low-risk homozygotes (P < 0.05).

223 was significantly higher among CC versus GG homozygotes (P </= 0.02) at birth, in school-age childre

224 glutamic acid was also shown in risk allele homozygotes (P = .029).

225 st one trauma decreased the AAO only in 'SS' homozygotes (p = 0.001).

226 nd trauma score was observed only among 'SS' homozygotes (p = 0.002) but not among 'L' allele carrier

227 ronger autoregulation, and decrease noise in homozygotes, paradoxically can cause increased noise in

228 0 years, the clinical duration in methionine homozygote patients appeared to be shorter than that see

229 -type (Leu/Leu), heterozygote (Leu/Phe), and homozygote (Phe/Phe) primary IPF pulmonary fibroblasts b

230 12Gso homozygotes present urinary and vertebral defects very s

231 Rescued homozygotes raised on normal drinking water after weanin

232 esistance compared with single copy Ser(301) homozygotes, reduced temperature sensitivity, and altere

233 rozygote males were more likely to mate than homozygote resistant (OR=2.36; P<0.001), suggesting a ne

234 R)/RDL(S) were also more likely to mate than homozygote-resistant males (OR=2.58; P=0.007).

235 Minor allele homozygotes responded better and had fewer side effects

236 Common homozygotes responded better and had fewer side effects

237 notype, always represented by CGCG haplotype homozygotes, revealed an age-dependent heart rate-correc

238 638 - HTRA1 promoter SNP (P = 0.001) and GG (homozygote risk) genotype at rs10490924 (A69S) in LOC387

239 The AA (homozygote risk) genotype at rs11200638 - HTRA1 promoter

240 Compared with protective allele homozygotes, rs10911021 risk allele homozygotes were cha

241 GALCtwi-5J homozygotes show loss of enzymatic activity despite norm

242 Consistently, the variant allele homozygotes showed 8-fold lower odds for myocardial infa

243 Instead, AA homozygotes showed a blunted DA response in the nucleus

244 Specifically, G homozygotes showed greater rVLPFC activation and had low

245 l 7 alpha-hydroxylase (CYP7A1-rs3808607) T/T homozygotes showed no LDL cholesterol lowering (mean +/-

246 pression analysis revealed that rs9517723 TT homozygotes showed significantly increased UBAC2 express

247 OPRM1 G carriers, compared with AA homozygotes, showed an overall reduction of baseline mu-

248 Bucindolol reduced VT/VF in beta(1)389 Arg homozygotes (subhazard ratio, 0.26 [0.14-0.50]; P=0.0000

249 Additionally, minor allele heterozygote and homozygote subjects showed reduced cortisol and elevated

250 reased risk compared with HLA-DQ2 or HLA-DQ8 homozygote subjects that may result from the presence of

251 Compared with GG homozygotes, subjects who were GA heterozygotes or AA ho

252 for the C121W mutation and was abolished in homozygotes, suggesting that loss of Nav alpha subunit m

253 so is clearly not a global null allele since homozygotes survive into adulthood.

254 zygote males were also more competitive than homozygote susceptible (OR=3.26; P=0.006), suggesting a

255 SLC35F3 risk-allele homozygotes (T/T) displayed decreased erythrocyte thiami

256 rriers and was 12.4% higher in IL-10 -1082AA homozygotes than -1082G carriers.

257 ealed a higher 90-day mortality risk among T homozygotes than among C-allele carriers (p = 0.0144) ex

258 ring negative emotional word processing in G homozygotes than in A allele carriers (p(FWE corrected)

259 ffeine sensitivity were higher in 10R allele homozygotes than in carriers of the 9R allele.

260 , harbor disproportionately more deleterious homozygotes than would be expected on the basis of the t

261 binding for beta-endorphin compared with AA homozygotes that may contribute to individual difference

262 le were more than twice as likely as Thr 164 homozygotes to have uncontrolled, persistent symptoms du

263 PER3 (4) /PER3 (4) and 11 PER3 (5) /PER3 (5) homozygotes underwent morning light administration, whil

264 es in transferrin saturation levels (100% of homozygotes versus 37.5% of compound heterozygotes with

265 brushings and cell lines; in DeltaF508 CFTR homozygotes versus heterozygotes; in subjects positive f

266 ratio (OR) and 95% CI comparing TT versus CC homozygotes was 1.02 (0.98-1.07; p = 0.28) overall, and

267 Bone formation in homozygotes was severely impaired, but no obvious phenot

268 at rs10063949 (G allele for heterozygote and homozygote) was associated with increased susceptibility

269 cant differences in offspring of rs174602 CC homozygotes (WAZ: -0.26 +/- 0.09 in the intervention gro

270 Among the thirteen TT homozygotes, we identified a previously unreported and s

271 AA homozygotes were almost 5-fold overrepresented in catego

272 and fertile, although slightly smaller, and homozygotes were born at lower frequency than expected,

273 e allele homozygotes, rs10911021 risk allele homozygotes were characterized by a 32% decrease in the

274 diac structural alterations; in contrast, no homozygotes were detected at birth, suggesting a lethal

275 le, fertile and had a normal lifespan, while homozygotes were early embryonic lethal.

276 In all, 877 patients from a cohort of C282Y homozygotes were included in the study when BMI at diagn

277 TSLPrs1898671 homozygotes were less likely to report topical calcineur

278 PAI-1 (4G/4G) homozygotes were not significantly different between ost

279 Hb S heterozygotes and alpha(+)thalassemia homozygotes were protected from severe malaria (odds rat

280 natal lethality and morphological defects in homozygotes were rescued by dietary myo-inositol.

281 d in population surveys, where only a few S1 homozygotes were SC.

282 SC plants were S1 homozygotes but not all S1 homozygotes were SC.

283 S940A homozygotes were viable and exhibited comparable basal l

284 ary airway epithelial cell cultures (F508del homozygotes) were used to determined ENaC activity (Ussi

285 n with the HLA haplotype DR3-DQ2, especially homozygotes, were found to be at high risk for celiac di

286 mistaken classifications of heterozygotes as homozygotes when one of the two copies drops out.

287 cription factor activity may be amplified in homozygotes, whereas it is buffered in heterozygotes.

288 risk for relapse to heavy drinking in the AA-homozygotes, whereas this effect could not be observed i

289 dopamine levels in frontal regions than Val homozygotes, which may help to explain how this genotypi

290 Further, 10R homozygotes who received NTX had less mPFC activation th

291 FAAH Pro129/Pro129 homozygotes, who constitute nearly half of the populatio

292 ):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her,

293 showed a rapid, early onset degeneration in homozygotes with a loss of proper rod outer segment deve

294 bjects with Chuvash polycythemia (VHL(R200W) homozygotes with constitutive upregulation of hypoxia-in

295 oad response was greater in lungs from ZZ-AT homozygotes with COPD, and was particularly found in pul

296 ome sequencing of DNA from 35 male HFE C282Y homozygotes with either markedly increased iron stores (

297 pes carrying DRB3*01:01 in DRB1*03:01/*03:01 homozygotes with two DRB3*01:01 alleles (odds ratio [OR]

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

300 flies and flight ability is not restored in homozygotes, young heterozygotes fly well.