ライフサイエンスコーパス: homozygous

1 Whole-exome sequencing revealed a homozygous 2 bp deletion, n.c.G623DEL-TC (p.V208VfsX20),

2 s mouse mutant ebouriffe (ebo/ebo) harbors a homozygous 2-bp frameshift mutation in Lrrc8a that trunc

3 nian SPG23 pedigree, we identified a complex homozygous 4-kb deletion/20-bp insertion in DSTYK (dual

4 The mutation was a homozygous A > G mutation in exon 12 (amino acid 567) of

5 However, rarely individuals with homozygous absence of SMN1 and only three to four SMN2 c

6 rowth in p53 wild-type NSCLC harboring Arg72 homozygous alleles (p53-72R) through disrupting interact

7 th the sickle cell trait (10/218 [4.6%]) and homozygous alpha+thalassemia (8/216 [3.7%]) were signifi

8 Rare homozygous and compound-heterozygous nonsense (c.1213C >

9 thresholds were only slightly diminished for homozygous and for multiple HLA targets, considering the

10 g (WES) data to identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may repre

11 00 and 94% with a single base resolution for homozygous and heterozygous samples, respectively.

12 Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA

13 Of these, 14 were homozygous and truncating in GRM7, STX1A, CCAR2, EEF1D,

14 al respiration in patient fibroblasts with a homozygous ANKZF1 R585Q mutation, and an inability of AN

15 small number of older individuals that were homozygous at an immunologically relevant genetic locus.

16 In the first experiment, male homozygous B6-Taar1(tm1(NLSLacZ)Blt) (Taar1 knockout) an

17 Surprisingly, we found that homozygous but not heterozygous rare variants in genes a

18 of fibroblasts from one of the patients with homozygous C-terminal truncation of GLI1 demonstrated th

19 exome sequencing analysis identified a novel homozygous c.100 G > A change in IFT43 segregating with

20 ce-site mutations were identified, including homozygous c.321+1G>T in a subject of Italian ancestry a

21 21+1G>T in a subject of Italian ancestry and homozygous c.322-10G>A in affected sibling pairs from tw

22 ole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function

23 Homozygous CALR(del/del) mice developed extreme thromboc

24 Homozygous Cdk10-knockout mice died postnatally with sev

25 For 95 MHC homozygous cell lines we assembled, de novo, a set of hi

26 reduced replication fork progression in some homozygous cells following DNA replication stress.

27 was 20.6% in heterozygous cells and 41.3% in homozygous cells.

28 Here, we report on a novel homozygous CISD2 mutation (c.215A > G; p.Asn72Ser) in a

29 Neurofibroma number increased in homozygous CNP-hEGFR mice versus heterozygous littermate

30 pex1-3 conferred embryo lethality when homozygous, confirming that PEX1, like several other Ara

31 and DAT-Cnr2 cKO heterozygous but not in the homozygous DAT-Cnr2 cKO mice.

32 th respect to the gene can all reproduce the homozygous data.

33 Whole-genome sequencing (WGS) identified a homozygous deep intronic mutation, c.254-649T > G, predi

34 emi-deficient (Erg (cEC-Het) ) and inducible homozygous deficient mice (Erg (iEC-KO) ), in a SMAD3-de

35 s/ins)) as the primary disease locus while a homozygous deletion in MAP9 (MAP9 (del/del)) was later i

36 Homozygous deletion of ASF1A is seen in 10%-15% of certa

37 Mice harboring a homozygous deletion of Cyp24a1 (BVE(Cyp24a1-null)) exhib

38 Homozygous deletion of Ets2 in p53 mutant mice resulted

39 naling and ADPKD cell proliferation in vitro Homozygous deletion of ILK in renal collecting ducts (CD

40 In contrast, homozygous deletion of Sirt1 triggers cellular apoptotic

41 Homozygous deletion of the orthologous enhancer region i

42 nctional connectivity.SIGNIFICANCE STATEMENT Homozygous deletion of the Pten gene in neuronal subpopu

43 PR/Cas9, we created a transgenic line with a homozygous deletion of TpnC41C and compared its phenotyp

44 showing signatures of positive selection for homozygous deletions and identify candidate tumour suppr

45 Homozygous deletions are rare in cancers and often targe

46 These recurrent homozygous deletions occur either over tumour suppressor

47 Homozygous deletions of chromosome 9p21 are known to tar

48 n cancer types and systematically screen for homozygous deletions, aiming to identify rare tumour sup

49 s 96 genomic regions recurrently targeted by homozygous deletions.

50 was seen with correctors and potentiators in homozygous DeltaF508 cells, increased chloride conductan

51 two copies of the transgene [RIPCre;KD-mTOR (Homozygous)] develop glucose intolerance due to a defect

52 the human disease genes into a pool of 4653 homozygous diploid yeast deletion mutants with unique ba

53 Relative to homozygous diploids, the presence of multiple homologs o

54 Mice with liver-specific hemizygous or homozygous disruption of Ppargc1a (Ppargc1a(f/+)Alb-cre(

55 ical trials that offer access to CCR5Delta32 homozygous donors, if available.

56 are able to create diploid strains that are homozygous double-deletion mutants.

57 Homozygous DSP (desmoplakin) and JUP (junction protein p

58 l and primary myogenesis proceed normally in homozygous dyW-/- embryos.

59 cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene wi

60 Homozygous ETAA1-deficient adult mice were otherwise nor

61 ionally, SNP alleles in NOTCH1 and RARB were homozygous exclusively in the bilateral cases, suggestin

62 itor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an

63 Homozygous familial hypercholesterolaemia is a genetic d

64 nts being treated with darunavir, or who had homozygous familial hypercholesterolaemia or any conditi

65 ncluded patients aged 12 years or older with homozygous familial hypercholesterolaemia who were on st

66 n to reduce LDL cholesterol in patients with homozygous familial hypercholesterolaemia, with or witho

67 ve used hepatocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to

68 osuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia [HYDRA]; NCT022

69 can be used either as drugs (e.g., to treat homozygous familial hypercholesterolemia and spinal musc

70 ry care institution of a 3-year-old boy with homozygous familial hypercholesterolemia and unstable co

71 arization may develop in children because of homozygous familial hypercholesterolemia or other underl

72 Heterozygous (FGFR3(ACH/+)) and homozygous (FGFR3(ACH/ACH)) mice expressing human FGFR3(

73 the probands, 14 had a clinical diagnosis of homozygous FH and two of heterozygous FH.

74 heterozygous fiber bundles, but increased in homozygous fiber bundles compared to wildtype mice.

75 additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ cal

76 r results were seen in mouse caudate nucleus homozygous for APOE epsilon4 via targeted replacement.

77 on; and targeted replacement transgenic mice homozygous for APOE epsilon4.

78 It is concluded that only animals homozygous for asparagine at codon 146 succumb to scrapi

79 al after ICB compared with patients who were homozygous for at least one HLA locus.

80 ences, Cvi-0 x Col-0 hybrid progeny that are homozygous for both Cvi-0 HISN6A and Col-0 HISN6B do not

81 f the patients were heterozygous and 4% were homozygous for CFHR3,1Delta We did not detect an associa

82 nd preserves body mass compared with HD mice homozygous for CK2alpha'.

83 based on perinatal lethal thrombosis in mice homozygous for F5(L) (F5(L/L) ) and haploinsufficient fo

84 atients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR in an open-label study.

85 12 years and older with cystic fibrosis and homozygous for F508del-CFTR, but it has not been assesse

86 atients with cystic fibrosis aged 6-11 years homozygous for F508del-CFTR.

87 ged 6-11 years with cystic fibrosis who were homozygous for F508del-CFTR.

88 atients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR.

89 aged 12 years or older with cystic fibrosis homozygous for F508del-cystic fibrosis transmembrane con

90 carriers, and 2 of 3 African patients being homozygous for HLA-B*53:01, is approximately 0.00002.

91 = 0.01) compared to infants born to mothers homozygous for IgG3-R435.

92 The patients were homozygous for p.V181SfsX8, p.L194P, and p.G98R mutation

93 individuals are two times more likely to be homozygous for rare very deleterious mutations present i

94 age, c.1141G>C heterozygotes and individuals homozygous for rs532464664 had their hip replacement ope

95 either APOB or PCSK9, but nine probands were homozygous for seven different LDLR mutations, with p.(T

96 for PEX c.2578C>T, did not show AEI and were homozygous for the 3' UTR variant.

97 expression in the brains of APP/PS1-21 mice homozygous for the APOE-epsilon4 or APOE-epsilon3 allele

98 Prior studies have shown that mice homozygous for the Aspa nonsense mutation Nur7 also deve

99 ult European Americans were studied: a group homozygous for the C allele (52 individuals with BD and

100 ort and RA patients from the Nijmegen cohort homozygous for the C allele (p = 0.0141 and p = 0.0314 r

101 We sequenced the genome of an orangutan homozygous for the ENC, and we focused our analysis on t

102 fibrosis who were aged 12 years or older and homozygous for the F508del-CFTR mutation.

103 Patients homozygous for the G allele of rs28365143 had greater re

104 Patients homozygous for the G allele responded significantly bett

105 ditory function and balance behavior in mice homozygous for the harmonin mutation Ush1c c.216G > A fo

106 = 0.02) compared to infants born to mothers homozygous for the IgG3-R435 allele.

107 Plants homozygous for the iput1 loss-of-function mutation were

108 vels were significantly lower in individuals homozygous for the lead (rs7692387) risk variant.

109 efective protein N-glycosylation, and humans homozygous for the minor allele at the lead SLC39A8 vari

110 Two patients were homozygous for the missense variant p.Gly131Glu, whereas

111 We show that mutants homozygous for the mutation are viable and express a sta

112 Mice homozygous for the mutation showed loss of LMOD1 protein

113 gration only in vascular smooth muscle cells homozygous for the nonrisk allele.

114 Mice homozygous for the patient variant (Copb2R254C/R254C) ap

115 tion exhibited no abnormalities, but a child homozygous for the premature termination codon displayed

116 the bulked DNA sample of seven F2:3 families homozygous for the pss1 allele and (2) the pen1-1 mutant

117 an be infected with M. tuberculosis Two MCMs homozygous for the relatively common M1 MHC haplotype we

118 s those that were wildtype, heterozygous, or homozygous for the TSLPrs1898671 single-nucleotide polym

119 dysfunction and PBMC obtained from subjects homozygous for the TT genotype of the rs11237379/NDUFC2

120 tivation was confirmed in livers of patients homozygous for the Z allele, with severe liver disease r

121 238 cases, 209 and 29 being heterozygous and homozygous for this antigen, respectively.

122 the Exome Aggregation Consortium (ExAC) was homozygous for this mutation.

123 re virtually all affected individuals harbor homozygous founder mutations in WDR73 as well as the clo

124 ncreased thyroid tumor penetrance in Tpo-Cre/homozygous FR-Hras(G12V) mice.

125 codon in PI3-kinase p110delta (PIK3CD) and a homozygous frame shift mutation in SKAP (KNSTRN), both a

126 cing analysis in the first family detected a homozygous frameshift change [c.606delinsTA; p.(Lys202As

127 The patient had a homozygous frameshift deletion in IFNGR2, which encodes

128 with complete PAI-1 deficiency because of a homozygous frameshift mutation in SERPINE-1.

129 A novel homozygous frameshift mutation in the gene encoding for

130 (two families); two siblings shared the same homozygous frameshift mutation, whereas one individual w

131 We identified two homozygous frameshift mutations and a homozygous nonsens

132 osol in the heart of knockin mice carrying a homozygous G115S substitution in Sco1, which in humans c

133 llocated 48 caged populations initiated with homozygous GA and WT adults to four dietary treatments c

134 Supplementation of homozygous Gatm mutants with exogenous creatine ameliora

135 were lower in the group with heterozygous or homozygous gene deletions than in those with no deletion

136 independent shRNA essentiality profiles and homozygous gene deletions, and recapitulate mutant-speci

137 Paradoxically, homozygous genetic deficiency of PAI-1 is associated wit

138 cluding two donors with the rare ARMS2/HTRA1 homozygous genotype.

139 Three TTR mutations, Glu89Lys, Gly47Arg, and homozygous Gly6Ser, not previously described, were assoc

140 ment were described: Glu89Lys, Gly47Arg, and homozygous Gly6Ser.

141 r behavioral alertness performance than both homozygous groups.

142 Using B cells from homozygous HAQ carriers, we found, surprisingly, that HA

143 from the 1000 Genomes Project we found that homozygous HAQ individuals account for approximately 16.

144 y 2.8% of Europeans whereas Africans have no homozygous HAQ individuals.

145 A homozygous HLA target does not trigger a twice higher XM

146 fferent genotypes (homozygous i(k) K1 versus homozygous i(i) k1).

147 iated by CHS siRNAs but different genotypes (homozygous i(k) K1 versus homozygous i(i) k1).

148 e encoding thrombopoietin (THPO): THPO R99W, homozygous in affected children in 2 families, and THPO

149 cted children in 2 families, and THPO R157X, homozygous in the affected child in the third family.

150 ness estimation unusable, we forced all loci homozygous, in a process we refer to as "forced homozygo

151 Here we report hemizygous or homozygous inactivating mutations of the chromosome 14q

152 ere we identified 153 heterozygous and three homozygous individuals among 3,130 genotyped subjects.

153 All homozygous individuals had persistent hypercholanemia (P

154 with the early onset of AD-type dementia in homozygous individuals, whereas it has a protective effe

155 cal examinations and exome sequencing in the homozygous individuals.

156 The banking of human leukocyte antigen (HLA)-homozygous-induced pluripotent stem cells (iPSCs) is con

157 phy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1 (ins/ins)) as t

158 te clonal HEK293 (Hrd1.KI) cells harboring a homozygous insertion of a small tandem affinity tag knoc

159 ific rescue construct, we have here isolated homozygous iput1 mutants.

160 The homozygous K108E mutation of interferon regulatory facto

161 Homozygous knockin mice with a nonsense mutation in Mypn

162 formation, whereas intestine-specific Sirt1 homozygous knockout mice have reduced development of col

163 Furthermore, the homozygous-knockout animals have reduced adult intestina

164 t of Myo10 is semi-lethal, with over half of homozygous KO embryos exhibiting exencephaly, a severe d

165 e relative contributions of heterozygous and homozygous loci-that is, dominance.

166 nce to cytarabine treatment in vivo, whereas homozygous loss delayed leukemia formation.

167 Its homozygous loss is tolerated in seemingly healthy indivi

168 arget for breast tumors with heterozygous or homozygous loss of PTPN23.

169 Homozygous loss of the gene survival of motor neuron 1 (

170 HD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, reca

171 velopmental aberrations, we identified three homozygous loss-of-function mutations in SMARCD2.

172 We identified homozygous loss-of-function mutations in the gene encodi

173 more likely to result in offspring carrying homozygous loss-of-function mutations.

174 phenotype of our patients segregated with a homozygous loss-of-function sequence variant, causing th

175 g intravenous injection in the tail veins of homozygous M83 transgenic (M83(+/+)) mice, robust alphaS

176 ygous mpk6 embryos have defects only in mpk6 homozygous maternal plants, but not in wild-type or hete

177 roexcitatory changes were more pronounced in homozygous mice than in heterozygotes, consistent with t

178 mEC layer II neurons of heterozygous and homozygous mice were hyperexcitable and generated long-l

179 d aberrant collagen fibers in tibiae of seal homozygous mice.

180 weeks of age, the time of seizure onset for homozygous mice.

181 Islets from RIPCre;KD-mTOR (Homozygous) mice showed reduced mTORC1 and mTORC2 signal

182 Additional analysis of homozygous Mirta22 knockout mice, in which no alteration

183 wo affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G

184 Notably, we found the identical homozygous missense mutation c.1382C>T (p.Pro461Leu) in

185 We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5.

186 Sickle cell disease results from a homozygous missense mutation in the beta-globin gene tha

187 We report a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhib

188 Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3

189 ies, we identified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R2

190 e extended consanguineous families, we found homozygous missense mutations in the PNPLA1 gene, six of

191 We enrolled classic BS patients carrying homozygous missense mutations with well-described functi

192 g whole-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and

193 hildren from two unrelated families carrying homozygous missense variants in SUFU.

194 Homozygous MLL4 enzyme-dead KI (Mll4(KI/KI)) mice are em

195 We find homozygous Mllt10 knockout mutants (Mllt10-KO) exhibit m

196 t embryonic day (E) 14.5 was not affected by homozygous Mof deletion despite dramatic loss of global

197 MPK1 were severely dwarfed and sterile, and homozygous mpk1 seeds from heterozygous parents were def

198 Heterozygous or homozygous mpk6 embryos have defects only in mpk6 homozy

199 6 mutant plants completely failed to produce homozygous mpk6 seeds.

200 Adult zebrafish homozygous mutant for disc1 show aberrant behavioural re

201 Using two lines of zebrafish homozygous mutant for disc1, we investigated behaviour a

202 our knowledge, the largest resource of hemi/homozygous mutant mES cells to date and is available to

203 As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations a

204 Homozygous mutant mice carrying this mutation developed

205 ene dosage-dependent growth restriction, and homozygous mutants exhibit upper GU defects at a microdi

206 mitted via both male and female gametes, but homozygous mutants were never recovered.

207 /neonatal lethality with rapid resorption of homozygous mutants, hampering additional studies.

208 We describe a severe anemia resulting from a homozygous mutation (R150Q) in the cytokine erythropoiet

209 We found the same homozygous mutation in an unrelated consanguineous patie

210 sh sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated pro

211 Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpo

212 Our studies identified a novel homozygous mutation in the ciliary protein IFT43 as the

213 In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) wh

214 Taken together, our findings highlight VAMP1 homozygous mutations as a cause of presynaptic CMS.

215 Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1 Expression of a dupli

216 Compound heterozygous or homozygous mutations in IRF8 in 3 unrelated families res

217 We identified homozygous mutations in KIF14 (NM_014875.2;c.263T>A;pLeu

218 Homozygous mutations in the aromatic l-amino acid decarb

219 ed by TDP-43 accumulation, and patients with homozygous mutations in the PGRN gene present with neuro

220 heterozygous mutations in normal samples and homozygous mutations in tumor samples.

221 report that zebrafish embryos with compound homozygous mutations in two Notch ligand genes, jagged1b

222 d result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN exp

223 next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calc

224 In this work, we have identified 4 different homozygous mutations, c.665G>A (p.R222Q), c.1633_1635del

225 and mice heterozygous (MYH9(+/E1841K) ) and homozygous (MYH9(E1841K/E1841K) ) for the mutation in ea

226 Ex vivo-studied platelets from homozygous nonrisk allele carriers displayed enhanced in

227 ed two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated pr

228 A homozygous nonsense mutation was identified in exon 1 of

229 upled to whole exome sequencing identified a homozygous nucleotide substitution (c.565G>T) introducin

230 ssential for eukaryotic DNA replication, and homozygous null mutations of GINS component-encoding gen

231 ort and detected 773 HMZ deletion calls (567 homozygous or 206 hemizygous) with an estimated sensitiv

232 Patients with cblC deficiency were homozygous or compound heterozygotes for mutations in th

233 In 60 families, we identified homozygous or compound heterozygous DNA variants in a si

234 midase activity in fibroblasts from patients homozygous or compound heterozygous for a combination of

235 e an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutatio

236 histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and r

237 inheritance, we identify 27 genes that have homozygous or compound heterozygous loss-of-function var

238 is pigmentosa (RP), are attributed to either homozygous or compound heterozygous mutations in RPE65.

239 42 patients (16.7%) carried rare biallelic (homozygous or compound heterozygous) nonsynonymous or sp

240 Mice with liver-specific homozygous or heterozygous Arid1a loss were resistant to

241 Then brain neurons from mice homozygous or heterozygous for the Tau (Mapt) null allel

242 ere engrafted with bone marrow obtained from homozygous or heterozygous Tet2 knockout mice had larger

243 the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations.

244 Homozygous Otud6b knockout mice were subviable, smaller

245 Individuals with homozygous p.Ser267Phe in SLC10A1 are prone to vitamin D

246 We identified eight individuals with homozygous p.Ser267Phe mutation in SLC10A1 and followed

247 FER rs4957796 TT-homozygous patients were compared with C-allele carriers

248 Thirty p.C282Y homozygous patients were randomly allocated to PPI (pant

249 Here we show that homozygous PIRF mouse livers are readily repopulated wit

250 PKD cyst-derived cells with heterozygous and homozygous PKD1 mutation exhibited morphological and fun

251 coronary heart disease; we identified APOC3 homozygous pLoF carriers in our cohort.

252 The patient with the homozygous PNPO variant had a low cerebrospinal fluid py

253 Whole-exome sequencing revealed a homozygous premature stop codon mutation in the gene enc

254 on in haploinsufficiency profiling (HIP) and homozygous profiling (HOP) screens.

255 By contrast, homozygous Ptch1 ablation decreased proliferation and br

256 d myofibrils isolated from young hetero- and homozygous R349P desmin knock-in mice, which carry the o

257 mpared with wild-type mice, heterozygous and homozygous R607H knockin mice displayed incomplete dRTA

258 arrays/CytoScan HD arrays allowed mapping of homozygous regions of the genome.

259 nhanced UBAC2 expression associated with the homozygous risk allele (TT) of rs9517723 could induce ov

260 sterase 5 inhibitor sildenafil compared with homozygous risk allele carriers.

261 Homozygous S999A mice exhibited low body weight, reduced

262 screened a pool of more than 3700 confirmed homozygous SALK T-DNA insertion lines for visible defect

263 Heterozygous (Scn8a(D/+)), homozygous (Scn8a(D/D))), and WT (Scn8a(+/+)) littermate

264 If insecticides do not reliably kill homozygous sensitive genotypes, it is likely that sequen

265 Heterozygous mutations within homozygous sequences descended from a recent common ance

266 Homozygous shha mutants developed normally; however, shh

267 Human healthy (wild-type (WT)) and homozygous sickle (SS) red blood cells (RBCs) express a

268 All 3 patients included had homozygous sickle cell disease.

269 Using a novel approach based on homozygous single nucleotide polymorphisms, we identifie

270 Homozygous SMN1 loss causes spinal muscular atrophy (SMA

271 whole-genome sequencing identified the same homozygous SRD5A3 c.57G>A, p.(Trp19Ter) variant as the u

272 interictal beta/gamma power is augmented in homozygous stargazer (stg/stg) but not homozygous totter

273 l EEG displays augmented beta/gamma power in homozygous stargazer (stg/stg) mice bearing a presynapti

274 pected within the kindred and not found in a homozygous state in 300 Bedouin controls.

275 er variants that lead to disease only in the homozygous state.

276 both loci identified by linkage analysis: a homozygous stop codon in PI3-kinase p110delta (PIK3CD) a

277 nerated from nasal brushings from one W1282X homozygous subject.

278 ion of PSCs derived from patients carrying a homozygous surfactant mutation (SFTPB(121ins2)) restores

279 cticide effectiveness (their ability to kill homozygous susceptible mosquitoes) is high and exposure

280 PSSV can thus differentiate heterozygous and homozygous SVs in each sample, enabling the identificati

281 utation in Tubb4a (p.Ala302Thr) was found in homozygous taiep samples.

282 Homozygous tau knockout (Mapt(-/-)) mice develop age-dep

283 Homozygous Tg-TBK1 mice had 7.6% fewer RGCs than hemizyg

284 a presynaptic AMPA receptor defect, but not homozygous tottering (tg/tg) mice with a P/Q type calciu

285 ed in homozygous stargazer (stg/stg) but not homozygous tottering (tg/tg) mice.

286 Four homozygous transgenic lines (T4) expressing the mutant 1

287 MYCN-driven neuroblastoma growth in TH-MYCN homozygous transgenic mice and MYCN gene-amplified neuro

288 We describe homozygous truncating mutations in MYPN in 2 unrelated f

289 Here we report three families with homozygous truncating mutations in TBC1D23 who display m

290 ily with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose

291 Using whole exome sequencing, we identified homozygous truncating variants in TRAK1 (NM_001042646:c.

292 ing and discovered a potentially pathogenic, homozygous variant, c.240C > G (p.Phe80Leu).

293 d HIBCH), and in 1 family, 2 disease-causing homozygous variants in different genes were identified.

294 mapping and whole-exome sequencing, we found homozygous variants in myosin light chain kinase (MYLK)

295 or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC i

296 a complex inheritance of TH, we predict that homozygous variants in WNT7A and SMARCA4 are necessary f

297 c restoration of Edn3 expression rescued the homozygous white mutant phenotype.

298 pressed solely in B-cells in the presence of homozygous wild-type p53 it leads to significantly incre

299 The hybrid mimics are almost completely homozygous with chromosome segments from each parent.

300 s men, and 0.68%-units (95% CI 0.38-0.97) in homozygous women.