ライフサイエンスコーパス: heterozygote

1 u (reported in the ExAC database in a single heterozygote).

2 knockout mice than in controls (wild-type or heterozygotes).

3 elevant to cancer in FANC-mutation carriers (heterozygotes).

4 otes) and 25 family B members (10 men and 15 heterozygotes).

5 t the underlying T1 was a nonchimeric double heterozygote.

6 ss-of-function, but present in either single heterozygote.

7 nd higher levels of HDL cholesterol than did heterozygotes.

8 mutant alleles are outcrossed to produce F1 heterozygotes.

9 in yeast) that do not inherit the gene from heterozygotes.

10 identified with POLG2-related disorders are heterozygotes.

11 ants in genes likely to cause a phenotype in heterozygotes.

12 ant effects with phenotypically intermediate heterozygotes.

13 del CFTR homozygous patients and 28 compound heterozygotes.

14 ntly lower in CD4+ T cells from CCR5-Delta32 heterozygotes.

15 he quantity and form of deposits between ACD heterozygotes.

16 T homozygotes and large-scale screenings for heterozygotes.

17 ibited by Ab10 (types I or II) in Ab10/K10L2 heterozygotes.

18 nd significantly reduced numbers of Dnd1+/KO heterozygotes.

19 latal defects in approximately 62% of pdgfra heterozygotes.

20 3:p.T78M carriers and of LQT2 type in double heterozygotes.

21 self but also of otherwise-stable alleles in heterozygotes.

22 ng slightly biased toward the risk allele in heterozygotes.

23 of ectopic filopodia is increased in Sema2a heterozygotes.

24 ies this improves the resolution of compound heterozygotes.

25 ically depleted for meiotic recombination in heterozygotes.

26 explaining why the former is dominant in A/C heterozygotes.

27 ed in homozygotes, whereas it is buffered in heterozygotes.

28 ygotes had lower enzymatic activity than GBA heterozygotes (0.85 micromol/l/h versus 7.88 micromol/l/

29 combined P = 3.4 x 10(-7); relative risk to heterozygote: 1.6, 95% CI: 1.4-2.0) and between LSLs and

30 combined P = 6.3 x 10(-7); relative risk to heterozygote: 1.6, 95% CI: 1.4-2.0).

31 omozygotes and compound heterozygotes and 81 heterozygotes, 17.0% versus 17 heterozygotes, 6.7%, P <

32 combined P = 4.0 x 10(-9); relative risk to heterozygote: 2.6, 95% CI: 1.9-3.7).

33 y 56% of all mutation carriers were compound heterozygotes, 25% were homozygotes, and both groups inh

34 scriminated among healthy donors (>75%), A-T heterozygotes (40%-56%), and A-T homozygotes (<30%).

35 ygotes and 81 heterozygotes, 17.0% versus 17 heterozygotes, 6.7%, P < 0.001).

36 ble plasma levels was observed in Hhip (+/-) heterozygotes; a strong gene-by-smoking association was

37 ests for tests of variants with less than 20 heterozygotes across the sample, regardless of the total

38 selection and can cause a balanced state via heterozygote advantage (the staggered phase), and (iii)

39 Heterozygote advantage and negative frequency-dependent

40 Apparent heterozygote advantage at the neutral locus is, however,

41 With heterozygote advantage at the selected locus, loss of va

42 for the observed high inbreeding depression, heterozygote advantage could not be excluded.

43 susceptible (OR=3.26; P=0.006), suggesting a heterozygote advantage effect.

44 Examples of heterozygote advantage in humans are scarce and limited

45 rited from mothers to daughters, substantial heterozygote advantage is not transmitted from one gener

46 enetic drift, migration, constant selection, heterozygote advantage or negative frequency-dependent s

47 mentals (pseudo-overdominance) and intrinsic heterozygote advantage was examined and compared with th

48 g in a net effect of overdominance (that is, heterozygote advantage) for fitness at RXFP2.

49 ch polymorphism in flowering plants, notably heterozygote advantage, negative frequency-dependent sel

50 We find a heterozygote advantage, resulting in higher fitness for

51 as negative frequency-dependent selection or heterozygote advantage.

52 A similar decrease also occurred in fog-3/+ heterozygotes, again for both fog-3 alleles, revealing a

53 t AID mutations (AD-AID), asymptomatic AICDA heterozygotes (AID+/-), and patients with uracil N-glyco

54 e genotypes at Sema3d locus, and Sema3d null heterozygote and homozygote mice had normal intestinal i

55 Additionally, minor allele heterozygote and homozygote subjects showed reduced cort

56 Variation at rs10063949 (G allele for heterozygote and homozygote) was associated with increas

57 enotype that is more severe than each single heterozygote and indistinguishable from that of the cond

58 Survival rates of Ret wild-type, null heterozygote and null homozygote mice at E12.5, birth an

59 pared clinical information from 111 compound heterozygotes and 131 individuals with homozygous expans

60 We identified 1661 heterozygotes and 17 homozygotes for the E40K variant an

61 onfidence interval [CI], 1.70 to 2.56) among heterozygotes and 5.70 (95% CI, 4.66 to 6.97) among homo

62 aluated the HIV reservoir in 18 CCR5-Delta32 heterozygotes and 54 CCR5 wild-type individuals during s

63 or variants (seven homozygotes and compound heterozygotes and 81 heterozygotes, 17.0% versus 17 hete

64 Hb S heterozygotes and alpha(+)thalassemia homozygotes were p

65 om 51 index probands who were confirmed PiMZ heterozygotes and also had a diagnosis of COPD Global In

66 cores were observed between patients with GD/heterozygotes and controls (all P < .05).

67 oing the opposite: selecting uncharacterized heterozygotes and generating parental lines from them.

68 idal neurons showed that neurons from mutant heterozygotes and homozygotes have a lower action potent

69 e demonstrate that disease manifests in both heterozygotes and homozygotes, indicating a common colla

70 In both heterozygotes and homozygotes, levels of calreticulin pr

71 lesterol and low HDL-cholesterol in compound heterozygotes and homozygous individuals, decrease rever

72 re we show that mutation rates are higher in heterozygotes and in proximity to crossover events.

73 On average, c.1141G>C heterozygotes and individuals homozygous for rs532464664

74 specifically enhanced in the duodena of the heterozygotes and is accompanied by increased expression

75 s on skeletal muscle from mdx, mdx/utrn(+/-) heterozygotes and mdx/utrn(-/-) double knockout mice to

76 We found that both human APOC3 A43T heterozygotes and mice expressing human APOC3 A43T displ

77 Heterozygotes and minor allele homozygotes of rs324011 p

78 tant mice exhibit earlier seizure onset than heterozygotes and more rapid progression to death.

79 1 p.G411S carriers compared to PINK1 p.Q456X heterozygotes and PINK1 wild-type controls under endogen

80 random sampling of homologous base pairs in heterozygotes and sequencing or alignment errors.

81 of-function variants that are deleterious as heterozygotes and those causing disease only in the homo

82 plasma, urine, and lung tissue of Hhip (+/-) heterozygotes and wild type (Hhip (+/+)) C57/BL6 mice ex

83 utations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 he

84 from NPC1 (untreated and miglustat treated), heterozygote, and healthy control subjects.

85 among patients with GD, 1.5% and 7.7% among heterozygotes, and 0.7% and 2.1% among noncarriers, resp

86 rols and genotyped for Hp, hemoglobin (Hb) S heterozygotes, and alpha(+)thalassemia.

87 M 17/17 homozygotes, intermediate in GM 3/17 heterozygotes, and lowest in GM 3/3 homozygotes (28.2, 1

88 included individuals with complete (compound heterozygote) ANGPTL3 deficiency, a population based-stu

89 pulation based-study of humans with partial (heterozygote) ANGPTL3 deficiency, and biomarker levels i

90 d whereas homozygotes manifest the disorder, heterozygotes are asymptomatic.

91 urine knockouts are homozygous lethal, while heterozygotes are healthy, which suggests differences in

92 gnificantly more than errors classifying the heterozygote as the common homozygote.

93 e and ischemic heart disease were reduced in heterozygotes as compared with noncarriers of APOC3 muta

94 We categorized vessel phenotypes of Tbx1 heterozygotes as hypoplastic or aplastic at the conclusi

95 variants correctly, often mistakenly calling heterozygotes as reference homozygotes.

96 ine stickleback maintained with a deficit of heterozygotes at the major underlying gene, Ectodysplasi

97 result in an apparent selective advantage to heterozygotes at the neutral locus (associative overdomi

98 with Fgf8 and Tbx1, and show that on a Tbx1 heterozygote background, conditional Prdm1 mutants have

99 tch-that developed postnatally in wild-types/heterozygotes, but not in knockouts.

100 We find that this variant reduces height in heterozygotes by an average of 4.2 cm (-0.64 s.d.).

101 362A>T [p.His121Leu]) and another a compound heterozygote (c.79T>C [p.Tyr27His] and c.217_225del [p.V

102 With these, the selected heterozygotes can be recreated as F1 hybrids, greatly in

103 controls (0.225 mmol trolox equivalent) and heterozygote carriers (0.181 mmol trolox equivalent), an

104 s (150/314) of valine at position 11, 61% of heterozygote carriers (130/213), and 74% of homozygote c

105 The heterozygote carriers are all female.

106 Affected NPC1 patients and NPC1 heterozygote carriers had reduced NK-cell numbers in the

107 analyzing 8,711 individuals, we showed that heterozygote carriers of this low-frequency variant have

108 ce of the pathogenic mutants suggesting that heterozygote carriers presumably do not show symptoms re

109 ients] with moderate or good EULAR response; heterozygote carriers: 81% [698/866]; and homozygote car

110 Heterozygotes carry the genetic information for two diff

111 B15/B21 heterozygote cells show much greater expression of B15 c

112 Glucocerebrosidase activity was reduced in heterozygotes compared to non-carriers when each mutatio

113 of the CO network showed higher activity in heterozygotes compared with both types of homozygotes du

114 nt scores were lower in patients with GD and heterozygotes compared with controls, but they did not d

115 sex-adjusted hazard ratio for CHEK2*1100delC heterozygotes compared with noncarriers was 2.08 (95% CI

116 For CHEK2*1100delC heterozygotes compared with noncarriers, the age- and se

117 PiMZ heterozygotes compared with PiMM individuals had a reduc

118 e more pronounced in homozygous mice than in heterozygotes, consistent with the earlier age of seizur

119 sed embryonic mortality compared with single heterozygote crosses.

120 ion, we detected 25 RAD loci showing extreme heterozygote deficiency in females but which were in Har

121 Heterozygote deletion of Ebf1 resulted in impaired respo

122 Additionally, doc2a+/- fam57ba+/- double heterozygotes demonstrate the increased body length and

123 neural crest cell migration, whereas pdgfra heterozygotes develop normally.

124 p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes by age 30 years compare

125 Homozygotes, but not heterozygotes, developed Parkinson signs in the middle a

126 at loss of a single copy of Dnd1 in Dnd1KO/+ heterozygotes did not affect baseline occurrence of TGCT

127 p.R114W heterozygotes did not have the increased birth weight of

128 ted to TRD at four loci, and underdominance (heterozygote disadvantage) was a possible cause of TRD a

129 Double heterozygotes displayed an exacerbation of the typical F

130 Single doc2a+/- and fam57ba+/- heterozygotes do not show a body size increase; however,

131 The mortality of the FGF8/Fbln1 double heterozygote embryos occurred between 14.5 and 16.5 days

132 lancing selection in HLA is asymmetric (some heterozygotes enjoy greater fitness than others).

133 and Cofilin genetically interact, as double heterozygotes exhibit a reduction in the number of nurse

134 nical nuclear Notch pathway inhibitor, and H heterozygotes exhibit bristle cell fate phenotypes refle

135 are early embryo lethal, but Matr3(Gt-ex13) heterozygotes exhibit incompletely penetrant BAV, CoA an

136 int patterns of twitching; again, wild-types/heterozygotes exhibited developmental changes in twitch

137 In compound heterozygotes, expression of partially functional mutant

138 ols (2.66 units/mg protein) and samples from heterozygote female carriers (1.91 units/mg protein), pa

139 ts with cALD or adrenomyeloneuropathy (AMN), heterozygote female carriers, and healthy controls and,

140 ospectively collected from healthy controls, heterozygote female carriers, and patients with AMN or c

141 patients who received a diagnosis of ALD and heterozygote female carriers, both of which groups were

142 bility is not restored in homozygotes, young heterozygotes fly well.

143 e fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one ch

144 ith complete PCSK9 deficiency (each compound heterozygote for PCSK9 p.Y142X and p.C679X) were identif

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

146 howed that VEC-specific conditional compound heterozygotes for Crim1 and Vegfa exhibit a phenotype th

147 rothrombin G20210A; 8.2% (5.5%) for compound heterozygotes for FVL and prothrombin G20210A; 9.0% (6.1

148 In this study, we report on 8 compound heterozygotes for mutations in the key erythroid transcr

149 cblC deficiency were homozygous or compound heterozygotes for mutations in the methylmalonic aciduri

150 gs of Moroccan Jewish ancestry were compound heterozygotes for p.A33D and p.P134R, and 6 patients bel

151 ulomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus

152 were markedly reduced in homozygotes but not heterozygotes for the Pro90Ser CD36 mutation, whereas wh

153 Homozygotes or compound heterozygotes for the R200W germline mutation in VHL hav

154 Analyses of fetal Efnb2 C-terminus deletion heterozygotes found mis-localized ES ion transport cells

155 is analysis revealed profound differences in heterozygote frequencies among populations (allele frequ

156 quire full-gene LIPA sequencing to determine heterozygote frequencies, since c.894G>A is not common i

157 sease is highly prevalent in Ashkenazi Jews (heterozygote frequency, approximately 9%), whereas it is

158 WT) and genetically altered mice (ST3Gal-III heterozygotes, Fuc-TIV/VII double null, STAT6 null).

159 We found that heterozygote GALC mutant mice have reduced myelin debris

160 Human participants with the heterozygote genotype also had subtle alterations in the

161 nd expected rates of pairs of homozygote and heterozygote genotypes at low-frequency variants in IBD

162 ern alleles is consistent with the excess of heterozygote genotypes at the supergene locus controllin

163 n phase information if they span two or more heterozygote genotypes.

164 We also considered ambiguity in polyploid heterozygote genotyping and developed a weighting method

165 is in relation to G6PD genotype and that the heterozygote groups were small.

166 fewer FDL lesions were found in both double heterozygote groups, indicating a partial restoration of

167 the expected PKA-II decrease in both double heterozygote groups.

168 1) homozygous expansions, and three compound heterozygote groups; (2) null (no frataxin produced); (3

169 Mitochondrial energetics from Grx2 heterozygotes (Grx2(+/-)) were also dysfunctional, and h

170 a significant genotype main effect (wildtype>heterozygote>null mutant).

171 Family A and family B heterozygotes had less severe or no clinical manifestati

172 ersus 7.88 micromol/l/h, P < 0.001), and GBA heterozygotes had lower enzymatic activity than GBA and

173 GBA homozygotes/compound heterozygotes had lower enzymatic activity than GBA hete

174 The null group of compound heterozygotes had significantly earlier age of onset and

175 and sinus-node dysfunction, whereas related heterozygotes harboring missense variants presented with

176 Patients with GD and GBA heterozygotes have an increased age-specific risk for PD

177 RFX6 heterozygotes have reduced penetrance of diabetes compar

178 These results indicate that PiMZ heterozygotes have significantly more airflow obstructio

179 n (>14 years): 4 homozygotes and 17 compound heterozygotes (hereafter referred to as carriers) and 23

180 position grafts, using wild type (WT) or A20 heterozygote (HET) C57BL/6 (H-2) donors and BALB/c (H-2)

181 Recently, heterozygote human FLI1 mutations have been ascribed to

182 Placing these heterozygotes in higher Nutlin-3a doses selected clones

183 el pathogenic MTHFR mutations, 2 as compound heterozygotes in one family and 1 as a homozygous mutati

184 K1 also have been associated with obesity in heterozygotes in several population-based studies.

185 duals in the human population are functional heterozygotes in that D17Z1 is the active centromere on

186 der decrease in neurogenesis was observed in heterozygotes, indicating SOX2 levels are important.

187 dings suggest that altered P2X7R function in heterozygote individuals disturbs sleep and might increa

188 ors classifying the common homozygote as the heterozygote inflate the type I error rate significantly

189 The "heterozygote instability" (HI) hypothesis suggests that

190 Analysis of the oral phenotype of double heterozygote (Irf6(+/-);Grhl3(+/-)) murine embryos faile

191 er disease (GD) and glucocerebrosidase (GBA) heterozygotes is important for understanding the pathoph

192 ck-in (KI) mice containing the A8V mutation (heterozygote=KI-TnC-A8V(+/-); homozygote=KI-TnC-A8V(+/+)

193 albicans yeast and hyphal kinesin-5 (Kip1p) heterozygotes (KIP1/kip1), we found that mutant spindles

194 cles compared to the titers in wild-type and heterozygote littermates.

195 Interestingly, heterozygote males were also more competitive than homoz

196 Kdr heterozygote males were more likely to mate than homozyg

197 fere with lysosomal protein degradation, GBA heterozygotes may demonstrate reduced lysosomal SNCA deg

198 partially recessive mutations or in favor of heterozygotes, may result in an apparent selective advan

199 e, 0.93; mean follow-up, 2.93; P < .001) and heterozygotes (mean baseline, 0.10; mean follow-up, 2.30

200 e, 4.29; mean follow-up, 7.82; P < .001) and heterozygotes (mean baseline, 1.97; mean follow-up, 4.50

201 with GD had a younger age at onset than GBA heterozygotes (mean, 54.2 vs 65.2 years, respectively; P

202 Armc5 heterozygote mice (Armc5+/-) developed normally but at t

203 We used elastin heterozygote mice (Eln(+/-) ) as a model of increased la

204 n) plays a role in atherogenesis because pfn heterozygote mice (PfnHet) exhibited a significant reduc

205 In vivo, inadequate A20 expression in A20 heterozygote mice aggravated intimal hyperplasia followi

206 nockout mice and found that when EdnrB (-/+) heterozygote mice are treated with lower levels of oxyge

207 NPCs) of tuberous sclerosis complex 1 (Tsc1) heterozygote mice leads to heterotopia and abnormal neur

208 alysis of the pre-B-cell compartment in Ebf1 heterozygote mice revealed a reduction in cell numbers.

209 e cell cycle in mammary epithelial cells and heterozygote mice spontaneously develop mammary tumors.

210 In cardiac-specific Bin1 heterozygote mice, isoproterenol fails to concentrate BI

211 nce tests, with intermediate effects in Nat1 heterozygote mice.

212 In the present study, we report on a heterozygote mutation in ELOVL4 in affected individuals

213 mutations and Parkinson's disease (PD), with heterozygote mutations in GBA1 considered the commonest

214 and B-lineage compartments in mice carrying heterozygote mutations in the E2a, Ebf1, or Pax5 gene.

215 We identified compound heterozygote mutations in the Tetratricopeptide repeat d

216 fied an FH patient presenting novel compound heterozygote mutations R410S and G592E of the LDL recept

217 led to detect further homozygote or compound heterozygote mutations.

218 ents who are obligate GBA mutation carriers (heterozygotes, n = 694), and among noncarriers (parents

219 scriptional activity when compared with Tsc1 heterozygote neurons and a marked resistance to cell dea

220 that prenatal exposure to nicotine in Snap25 heterozygote null mice produced a deficit in the D2R-dep

221 Rs, but not the number of these receptors in heterozygote null Snap25 mutants.

222 In most cases, only heterozygotes of gene variants are known, and HDL choles

223 individuals who were homozygous or compound heterozygotes of mutations in ABHD12 underwent exhaustiv

224 arly postnatal to adult ages in female Mecp2 heterozygotes of the conventional Bird line (Mecp2tm1.1b

225 function alleles of dysb, Blos1, or compound heterozygotes of these alleles impaired neurotransmitter

226 (GNPAT) polymorphism p.D519G (rs11558492; 15 heterozygotes, one homozygote).

227 sed virus-induced mortality compared to Asyn heterozygote or homozygote control mice.

228 s, whereas healthy family members are either heterozygote or homozygote for the reference allele.

229 ed with GG homozygotes, subjects who were GA heterozygotes or AA homozygotes exhibited a decreased ri

230 n who had the lowest-risk genotypes (DR4-DQ8 heterozygotes or homozygotes).

231 pared to 10.7 +/- 2.1 years for treated VTTT heterozygotes or homozygotes.

232 405, whereas 13 healthy siblings were either heterozygotes or lacked the mutant allele.

233 hitecture for a simulated gene is a compound heterozygote, our method is better able to capture the s

234 .Cys282Tyr homozygotes and 2.3% for compound heterozygotes (p < 0.001).

235 .Cys282Tyr homozygotes and 3.5% for compound heterozygotes (p < 0.001); in females, it was 14.0% for

236 ignificance between patients with GD and GBA heterozygotes (P = .07, log-rank test).

237 MR)-deficient colorectal cancer cells formed heterozygote (p53 wild-type/mutant) colonies when cultur

238 nts appeared to be shorter than that seen in heterozygote patients.

239 Furthermore, heterozygotes performed more accurately in behavioral ta

240 ene induction in WT mice, whereas PGC-1alpha heterozygotes (PGC-1alpha(+/-)) failed to augment Sod2 m

241 been devoted to the mechanisms underpinning heterozygote phenotype and its consequences for allele f

242 Heterozygote plasma samples displayed also increases in

243 follicle cell progenitors in lsd1 or CoRest heterozygotes prematurely lose epigenetic plasticity, un

244 Intriguingly, LmNTR(+/-) heterozygote promastigote parasites could readily differ

245 shown to be LmNTR-specific as the LmNTR(+/-) heterozygote promastigotes displayed resistance to the m

246 ory divergence are approximately additive in heterozygotes, quantitatively different between males an

247 Similarly, heterozygote RDL(R)/RDL(S) were also more likely to mate

248 Heterozygotes remain seizure free for another month.

249 obstructive pulmonary disease (COPD) in PiMZ heterozygotes remains uncertain.

250 Reduced levels of TCF7, found in the heterozygote, resulted in a greater potential for Treg p

251 a gene dose-dependent manner when comparing heterozygote RMRP carriers with patients with CHH.

252 in autoantigen-binding repertoires between a heterozygote's two expressed HLA variants might result i

253 of SCO2 showed that the patient had compound heterozygote SCO2 mutations: the previously described c.

254 Heterozygotes shared similar phenotypic features includi

255 llelic interaction) at this locus, where the heterozygotes show higher activity in the cingulo-opercu

256 demonstrated that doc2a+/- fam57ba+/- double heterozygotes show hyperactivity and increased seizure s

257 Both sets of heterozygotes show the presence of both polymorphisms in

258 Sox9 heterozygotes showed a haploinsufficient phenotype, in w

259 By contrast, PINK1 p.G411S heterozygotes showed no decrease of PINK1 protein levels

260 In contrast, hearts from homozygotes and heterozygotes showed normal morphology, myofibrillar arr

261 While cells from PINK1 p.Q456X heterozygotes showed reduced levels of PINK1 protein and

262 t MS of a rare genetic variant of P2RX7 with heterozygotes showing near absent proinflammatory 'pore'

263 nd substantial homozygosity underlying fixed heterozygote SSR genotypes, which in turn reflect a self

264 Non-reference alleles in the heterozygote state have a high chance of being missed wh

265 , we confirm that Sls-GFP can be used in the heterozygote state without an obvious phenotype in IFM a

266 y rescued the lacrimal gland defects in Sox9 heterozygotes, suggesting a crucial role of Sox9, downst

267 otes or the loop-tail phenotype in Lp mutant heterozygotes, suggesting that mice with these mutant al

268 arian Vizslas revealed the presence of three heterozygotes, supporting the presence of carriers in th

269 actional haematocrit reduction >25%) in G6PD heterozygotes taking the higher (7 d) primaquine dose (9

270 Two heterozygotes taking the higher (7 d) primaquine dose re

271 maquine dose (9/17 [53%]) compared with G6PD heterozygotes taking the standard high (14 d) dose (2/16

272 The compound heterozygote Tbc1d20 (ZFN/bs) mice, generated from an al

273 proximately 3.5-fold higher mutation rate in heterozygotes than in homozygotes, with mutations occurr

274 noncarriers (P = .008, log-rank test) and in heterozygotes than noncarriers (P = .03, log-rank test),

275 Even when expressed as a heterozygote, the Nan-EKLF protein accomplishes this by

276 In Pkd2 heterozygotes, the 50% PC2 reduction resulted in a noneq

277 Importantly, for heterozygotes, the apoE4/apoE3 isoform ratio was increas

278 In heterozygotes, the mean fractional haematocrit reduction

279 In these dimorphic heterozygotes, the two alleles differ only at the two mu

280 We found that intercrossing Dnd1+/KO heterozygotes to generate a complete loss-of-function le

281 We intercrossed Ret and Sema3d double null heterozygotes to generate mice with the nine possible ge

282 generated Arid1b-knockout mice and examined heterozygotes to model human patients.

283 ch selection operates is a duplicate/singlet heterozygote; to the best of our knowledge, this has not

284 Here we report that tuberless heterozygote Tsc1(+/-) mice show functional upregulation

285 antly, vestibular function remains intact in heterozygotes up to 10 months, the latest time point tes

286 protein expression in tumours from nine G84E heterozygote variant and 13 wild-type carriers.

287 iptome analysis of the aortic media from A20 heterozygote versus wild-type mice revealed increased ba

288 S2A rs1060826 versus homozygous wild-type or heterozygotes, we estimate an adjusted odds ratio (OR) o

289 he results from the patients with GD and the heterozygotes were combined, a significant deterioration

290 No African-American heterozygotes were detected.

291 .271dupA (p.R91KfsX14) patients and compound heterozygotes were noted.

292 ot significantly affected in cKit(V558Delta) heterozygotes, whereas in homozygotes, increased apoptos

293 n A315T TDP-43 protein were 300% elevated in heterozygotes, whereas the endogenous mouse Tdp-43 was d

294 or the identification of A-T homozygotes and heterozygotes, which is essential for diagnosis, genetic

295 ation defects similar to Gata4;Tbx5 compound heterozygotes while Gata4(EndoDel/wt);Tbx5(+/-) embryos

296 ormances, comparing homozygotes and compound heterozygotes who carry 2 PARKIN mutations with noncarri

297 he female proband of Family 1 was a compound heterozygote with an ITGB6 transition mutation in Exon 4

298 r this mutation and 2 siblings were compound heterozygotes with a splice site mutation c.1220 + 1G>C

299 100% of homozygotes versus 37.5% of compound heterozygotes with transferrin saturation > 50%; p = 0.0

300 coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[C

301 Likewise, supplementation of K153Delta heterozygotes with WT-Prph2 results in structural but no