ライフサイエンスコーパス: homozygous

1 whose human leukocyte antigen-haplotype are homozygous.

2 N1 whose molecular analysis revealed a novel homozygous 22 base pair duplication (c.55_76dup) in the

3 nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding re

4 unique predicted pathogenic PID variants (1 homozygous, 5 hemizygous, and 35 heterozygous) found in

5 Strikingly, 96.4% of the variants were homozygous, 9% of which were found in 4 dominant genes.

6 . noGC is 49.8 vs. 63.4 (P < 0.001), and for homozygous adrenal permissive genotype, it is 66.7 vs. 6

7 In patients with the homozygous adrenal permissive genotype, there was no FEV

8 s were independently confirmed: FEV(1)PP for homozygous adrenal restrictive genotype in GC vs. noGC i

9 Homozygous alpha-synuclein mutant (SNCA) mice that overe

10 Among them, 14 were homozygous and 3 were compound heterozygous for CTNS mut

11 Eighty percent of homozygous and 9.1% of heterozygous TGFBI-R124C mice dev

12 ht the need to study WD variants in both the homozygous and compound-heterozygous states to better un

13 strated visible phenotypes: foxc1a-/- single homozygous and foxc1-/- double knockout homozygous embry

14 In several fish species homozygous and heterozygous clonal lines have been produ

15 The number of dogs homozygous and heterozygous for the insertion declined r

16 a positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 w

17 mmunolabeling patterns were similar for both homozygous and heterozygous mice.

18 d a significant increase in foxc1a levels in homozygous and heterozygous mutant eyes, suggesting a me

19 Homozygous and heterozygous mutant mice exhibited altere

20 We screened mice carrying homozygous and heterozygous N-ethyl-N-nitrosourea (ENU)-

21 s (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurre

22 in response to cytokine stimulation, whereas homozygous animals consistently transcribed higher level

23 ygous knock-in mice have a normal life span, homozygous animals die at 3 months of age because of a s

24 eptor degeneration in either heterozygous or homozygous animals of either line.

25 eletal muscle Ca(2+) transients in GBT ryr1b homozygous animals validated the ability to explore mole

26 Detection efficiency for PrP-96S homozygous animals was substantially lower, suggesting t

27 After identification of adult homozygous animals, this procedure takes 35 d to complet

28 d in Pomeranians and other small dogs, and a homozygous Arg219Pro change occurred predominately in pi

29 monly in an autosomal recessive pattern with homozygous B3GLCT mutations.

30 hole-exome sequencing identified individuals homozygous-by-descent for a rare variant in RIC1 and, th

31 ndividuals from both families shared a rare, homozygous c.191A > G variant affecting a splice site in

32 In our cohort, a homozygous c.2991+1655A>G genotype presented with a more

33 tified three additional individuals carrying homozygous c.676dup and three carrying combinations of t

34 m of C3 in the complement cascade, protected homozygous C3KI mice from thrombotic microangiopathy and

35 Homozygous carriers of both iRBD-specific SNPs were at h

36 (N(e)) and the selection coefficient against homozygous carriers of mutations (s) is <=1, i.e., there

37 Four homozygous carriers of pathogenic NPC1 mutations were al

38 In patient-derived F508del homozygous cells, PGD97 (100 nM) increased short-circuit

39 nducted genomic analyses of heterozygous and homozygous Chd8 mouse embryonic stem cells and different

40 both in vitro and in vivo, and the DeltaW38 homozygous chickens tested ALV-J-resistant, in contrast

41 Double homozygous cilia are generally intact and display a norm

42 rom the six first maturing females, five all homozygous clonal lines were produced by meiotic gynogen

43 results suggest that maintenance of separate homozygous colonies is inadequate for testing the effect

44 nimals maintained as separate C6 WT and C6-D homozygous colonies; and (2) establishment of a heterozy

45 ous genotypes triggered higher HI rates than homozygous combinations.

46 Homozygous crz1/gnrhl1 knockout animals exhibit a signif

47 Homozygous Ctrl-KO mice expressed no detectable CTRL pro

48 We compared both heterozygous and homozygous D252H and null mutant mice using behavioural

49 hlear potential was significantly reduced in homozygous del10 mice compared with WT littermates.

50 11,314 deletion, 5625 duplication, and 2746 homozygous deletion CNV regions (CNVRs).

51 iants were novel, including one multi-exonic homozygous deletion in OTOA.

52 ne that may cause GPR56 dysfunction, a 15-bp homozygous deletion in the cis-regulatory element upstre

53 al response of both the reference strain and homozygous deletion mutant strain of CCC2, which encodes

54 KRAS (73%), amplification of MYC (47%), and homozygous deletion of CDKN2A (40%) that are common in P

55 Homozygous deletion of ETV4, using CRISPR/Cas9, led to g

56 al muscular atrophy (age 16-65 years) with a homozygous deletion of exons 7, 8, or both, or with comp

57 Though homozygous deletion of Poldip2 is lethal, heterozygous m

58 CRISPR-mediated homozygous deletion of the mouse ortholog of a noncoding

59 ne genes and rescues the lethality caused by homozygous deletion of the RD histone locus.

60 We now report that homozygous deletion of Ubiad1 is produced in knockin mic

61 elated genes such as MYC, ID3, and DDX3X and homozygous deletions of 9p21/CDKN2A, whereas other cases

62 s, 2p16/REL gains/amplifications, 19p13/CD70 homozygous deletions, and TP53 and MYC mutations.

63 table transgenic lines and mutant lines with homozygous deletions.

64 When transplants from CCR5Delta32 homozygous donors are used, HIV cure is possible.

65 ed at 4700-4800 minC at 8 degrees C gave all homozygous (doubled haploid) gynogenetic progeny with hi

66 he frequency of HDR-edited clones as well as homozygous editing.

67 ngle homozygous and foxc1-/- double knockout homozygous embryos presented with similar characteristic

68 BL/6 wild-type, heterozygous EphA4(+/-), and homozygous EphA4(-/-) mice were used in behavioral and i

69 Our findings demonstrate that homozygous Eu-PKCbetaIItg mice displayed a shift from Ig

70 All identified variants were homozygous except for two.

71 Homozygous expression of CARD14(E138A) induced more exte

72 phic alleles are not expressed, resulting in homozygous expression of the missense mutation allele.

73 ns exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by

74 Psen1 KO mice and knock-in (KI) mice with homozygous FAD-associated L435F mutations (Psen1(LF/LF)

75 Homozygous familial hypercholesterolemia is characterize

76 In patients with homozygous familial hypercholesterolemia receiving maxim

77 mly assigned in a 2:1 ratio 65 patients with homozygous familial hypercholesterolemia who were receiv

78 has shown potential benefit in patients with homozygous familial hypercholesterolemia.

79 Homozygous FASN R1819W hESC-derived NSPCs show reduced r

80 L3#2 transgene are viable but up to 99.8% of homozygous females die at the pupal stage when raised on

81 fficacy data for evolocumab in patients with homozygous FH (HoFH) and severe heterozygous FH (HeFH).

82 EGF receptor (EGFR-sfGFP) in Drosophila The homozygous fly appears similar to wild type with EGFR ex

83 the vast majority of the bred cultivars are homozygous for "firm" alleles suggests that this locus i

84 The second patient was homozygous for a frameshift variant (NM_001348097.1:c.12

85 h human hematopoietic stem cells from donors homozygous for a functional or a non-functional FcgammaR

86 ed that elevated anandamide levels in people homozygous for a loss-of-function FAAH mutation are asso

87 (Chr1-risk and Chr10-risk, respectively) or homozygous for a neutral haplotype (Chr1-neu), for the p

88 Using mice that are hemizygous or homozygous for a single MHCI allele, we showed that desp

89 Mice homozygous for an inactivated Tmem189 gene lacked plasma

90 d cardiomyopathy (DCM) in genome-edited pigs homozygous for an RBM20 allele encoding the pathogenic R

91 Strains homozygous for both elements are fertile and fecund when

92 However, that report only included animals homozygous for codon 96G, the most common polymorphic ve

93 deletion (del10) in Hgf Male and female mice homozygous for del10 exhibit moderate-to-profound hearin

94 rons that require hmx3a In addition, embryos homozygous for deletions of both hmx2 and hmx3a have ide

95 lated enteroids' fluid secretion in CF mice (homozygous for DeltaF508), and silencing one allele of D

96 for G1297 compared with individuals who were homozygous for E1297.

97 thways differentially expressed between mice homozygous for either CR1(long), CR1(short) or CR1(KO).

98 differentiated human airway epithelial cells homozygous for F508del and in vivo using a previously va

99 ar edges in the skin of individuals who were homozygous for G1297 compared with individuals who were

100 ng analysis revealed that each cell line was homozygous for HLA-A, HLA-B, and DRB1 and heterozygous f

101 y, and alphaKlotho, we used the BK/BK mouse (homozygous for mutant Becn1(F121A) ) with increased auto

102 ncing revealed that each affected person was homozygous for one of two different rare variants (c.470

103 e inherited in trans, the second patient was homozygous for p.Leu206His and the third patient had pat

104 paternal isodisomy for chromosome 19 and was homozygous for p.Met148Thr.

105 or which a sizeable proportion of humans are homozygous for predicted LoF alleles reveals both redund

106 e subretinal space of rod degeneration mice (homozygous for rd1, also known as Pde6b) leads to partia

107 We considered 299 individuals (547 eyes) homozygous for risk variants or haplotypes on Chr1 or Ch

108 The individuals homozygous for rs181704186-G have a mean CRP level of 0.

109 nding that sweet cherry individuals that are homozygous for the "soft" alleles for qP-FF4.1 are exclu

110 GC patients homozygous for the adrenal restrictive genotype have low

111 We crossed one genome-edited dairy bull, homozygous for the dominant P(C) Celtic POLLED allele, w

112 Individuals homozygous for the FAAH 385A allele may therefore offer

113 Mice homozygous for the FASN R1812W variant have impaired adu

114 ation was observed primarily in participants homozygous for the GSTM1 deletion variant.

115 Both dogs were homozygous for the IDUA mutation and shared coat colors

116 CL12 protein levels were higher for patients homozygous for the minor allele carrying higher ADA risk

117 804 [2.139-6.764], p < 1 x 10-5 for patients homozygous for the minor allele) and was chosen for vali

118 1 year compared with heterozygotes or those homozygous for the non-P-gp-lowering allele (rs1045642 A

119 lls, we micro-CT imaged a 12-week-old foetus homozygous for the nonsense mutation RFX6 c.1129C>T, whi

120 roved for patients with cystic fibrosis (CF) homozygous for the Phe508del mutation.Objectives: To eva

121 was used for arthritis induction in B6 mice homozygous for the PON1 human transgene [PON1Tg], PON1 k

122 This was confirmed using neutrophils homozygous for the SLC44A2 R154Q polymorphism.

123 parallel from knock-in mice heterozygous or homozygous for the Trem2 R47H AD risk variant.

124 Fish homozygous for the upf1 (t20450) allele (Y163X) survive

125 ced healthy dogs were either heterozygous or homozygous for the wild-type allele.

126 clinically healthy, the remaining 74.9% were homozygous for the wild-type and were also clinically he

127 express ATZ and in human livers of patients homozygous for the Z allele.

128 were detected in diseased livers of children homozygous for the Z allele.

129 We constructed and analyzed mice homozygous for these two single-nucleotide polymorphisms

130 A strain homozygous for this allele had 237-fold resistance to Cr

131 Of these, 1.5% were homozygous for this insertion and found to be clinically

132 The clinically affected Schipperkes were homozygous for this insertion, and the sequenced healthy

133 tes from individuals who are heterozygous or homozygous for this risk allele produce significantly hi

134 Using whole exome sequencing, we identified homozygous frameshift CCDC32 variants in three affected

135 eport a second family with 2 siblings with a homozygous frameshift mutation in MKL1.

136 We found a homozygous frameshift mutation in NOS2 encoding a trunca

137 families with neurodegenerative disease and homozygous frameshift mutations (Asp517Metfs*19, Ser126M

138 with or without nephropathy, associated with homozygous frameshift mutations in FAT1.

139 ained meiotic arrest and identified the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer

140 Whole-exome sequencing revealed a novel homozygous frameshift variant p.Val242GlufsTer52 in the

141 white-tailed deer orally dosed with CWD from homozygous (G(96)/G(96)) deer were analyzed.

142 Comparisons between WT and homozygous G2435R-RYR1 mitochondria showed a significant

143 cterize the musculoskeletal phenotype of the homozygous G608G BAC-transgenic progeria mouse model, an

144 Homozygous G960R mutation in NFKB1 leads to a severe cli

145 The availability of hetero- and homozygous Gata3 reporter mice with an exceptionally bri

146 Homozygous GBT animals in ryr1b, fras1, tnnt2a, edar and

147 ore the function of UBIAD1 in mice; however, homozygous germ-line elimination of the Ubiad1 gene caus

148 y whole-exome sequencing, we identified rare homozygous germline missense or nonsense variants in a k

149 Homozygous Gnb1 (Gbeta(1)) deletion was lethal, but mice

150 A binding and transcriptome-wide expression, homozygous Gtf2ird1 mutation caused balance, marble bury

151 GMP-compliant human leucocyte antigen (HLA)-homozygous hiPSCs and their derivatives under postdistri

152 riptomes of wild type (WT) and Tgf-beta3 -/- homozygous (HM) mouse embryos at the crucial palatogenes

153 c forms of Hp, resulting in three genotypes: Homozygous Hp 1-1 and Hp 2-2, and heterozygous Hp 2-1.

154 the absence of endogenous SV2A (to mimic the homozygous human condition).

155 een depleted of endogenous SV2A to mimic the homozygous human condition.

156 A homozygous IL-17F deficiency in mice does not cause OPC

157 Two variants were recurrent: a homozygous Ile194Leu substitution was found in Pomerania

158 ted LoF variants, for which the frequency of homozygous individuals exceeds 1% in at least one human

159 ction against all forms of severe malaria in homozygous individuals(3-5), a similar degree of protect

160 of 4.7%) reduces height by 2.2 cm (4.4 cm in homozygous individuals).

161 conclusion, we identified the same biallelic homozygous JUP mutation in two unrelated families with s

162 In contrast, homozygous Kcnt1(R455H/R455H) mice were embryonic lethal

163 Because a homozygous knock-in (KI) strain for the mP215L mutation

164 Homozygous knock-ins, which are viable and fertile, have

165 This project identified Fam151b homozygous knock-out mice as having retinal degeneration

166 In this study, we discovered that a homozygous knockdown mouse model for MT minus-end regula

167 Notably, mice with homozygous knockin of the p53 R172H (p53 (172H/H) ) muta

168 Homozygous knockout alleles of mouse Rabl3 were embryoni

169 Homozygous knockout mice for Adamts19 show aortic valve

170 Homozygous knockout mice lacking one of two KRAB-ZFP gen

171 models with constitutive and tissue-specific homozygous knockout of Nr2f1.

172 s limited due to confounding phenotypes with homozygous knockout.

173 Both male and female homozygous KO mice were infertile, due to abnormal genit

174 ioral tasks to assess learning and memory in homozygous Kv7.2 knock-in mice, Kv7.2(S559A), which show

175 larp6b Viable and fertile single and double homozygous larp6a and larp6b zygotic mutants revealed no

176 ants generated by partial complementation of homozygous lethal OXA2a transfer-DNA insertional mutants

177 Intercrossing with Brca1(Delta11), which is homozygous lethal, generated Brca1(CC/Delta11) mice at M

178 N50 of 6.99 Mb) of the apple anther-derived homozygous line HFTH1, including 22 telomere sequences,

179 led into the same genetic background, and 16 homozygous lines selected as a tetragenic system.

180 mTORC1 hyperactivation in epilepsy following homozygous loss of Depdc5, but also suggest a developmen

181 find evidence for negative selection against homozygous loss of essential genes before, but not after

182 Homozygous loss-of-function mutations in SLC39A8 result

183 lescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL.

184 f the Z, but there was an extreme deficit of homozygous males within a 2 cM interval in all families.

185 t to other vertebrates, zebrafish carrying a homozygous, maternal zygotic snx14 genetic loss-of-funct

186 Homozygous Megf8 and Mgrn1 mutations increased Smoothene

187 p.C282Y homozygous men had a higher risk of hepatic malignancies

188 did not exhibit retinal degeneration whereas homozygous mice exhibited progressive retinal degenerati

189 tion for the D252H mutant protein, the D252H homozygous mice were more severely affected than null ho

190 In a humanized mouse model, AA homozygous mice were similarly protected against stress-

191 gnificantly smaller and less frequent in the homozygous mice.

192 ified a CVID+AIC patient who displays a rare homozygous missense M466V mutation in beta-catenin-like

193 infant who died of autoinflammation due to a homozygous missense mutation (R148Q) in STAT2.

194 A homozygous missense mutation in the gene encoding the es

195 Moreover, a homozygous missense variant, c.1166C>T (p.Pro389Leu), se

196 plate cartilage were similar between groups, homozygous mitochondrial DNA mutator mice displayed elev

197 >C, p.(Leu48Ser)] in the proband and a novel homozygous MMP20 mutation [NM_004771.3:c.616G>A, p.(Asp2

198 omosome translocation in Burkitt's lymphoma, homozygous Mnt deletion greatly reduced lymphoma inciden

199 Chronic treatment of homozygous mouse pups with NMDA receptor antagonists sig

200 Homozygous mutant animals die as pupae, but lethality is

201 This protocol allows generation of homozygous mutant cell lines using an insertion cassette

202 chea and palate defects were observed in the homozygous mutant embryos at multiple stages of developm

203 Homozygous mutant embryos develop normally into the mid-

204 els were generated by backcrossing the above homozygous mutant GCase mice into Saposin C deficient (C

205 n double heterozygotes, but all three double homozygous mutant lines exhibit early mortality and typi

206 Homozygous mutant mice develop lethal postnatal inflamma

207 nd mammalian menorin homologue, Fam151a, and homozygous mutant mice have no discernible phenotype.

208 As anticipated, homozygous mutant plants, in which OsSBEIIb was complete

209 ing Xenopus tropicalis heterozygous, but not homozygous mutant tadpoles.

210 While germline Smoc2 homozygous mutants are viable, tooth number anomalies, r

211 Her9 homozygous mutants displayed striking retinal phenotypes

212 Approximately 2/5 of the homozygous mutants were viable and grew into reproductiv

213 ombination of double heterozygous and double homozygous mutants.

214 Here, we describe a rare homozygous mutation (D40H) in the POLR3E gene, coding fo

215 Exome sequencing identified a homozygous mutation at an essential splice site on USP18

216 A homozygous mutation in growth hormone 1 (GH1) was recent

217 A patient with a novel homozygous mutation in ITK presented with autoimmune lym

218 Genetic analysis revealed a novel homozygous mutation in NFKB1, c.2878G>A, p.Gly960Arg (G9

219 A homozygous mutation in the inositol monophosphatase 1 (I

220 (SMA) is a neuromuscular disorder caused by homozygous mutation or deletion of the survival motor ne

221 Using whole exome analysis, a novel double homozygous mutation p.L81R and pR212W in malonyl CoA-acy

222 ved a biallelic mutation rate of 44.4% and a homozygous mutation rate of 11.1%, representing a signif

223 We characterized zebrafish carrying a homozygous mutation that introduces a premature stop in

224 probands, 2.5 and 22-year-old, with the same homozygous mutation, allowed us to study the cross-secti

225 Most cases harbored homozygous mutations (8/10), while a compound heterozygo

226 h common variable immunodeficiency, however, homozygous mutations have not been described.

227 s, with 33% of them containing bi-allelic or homozygous mutations in both genes.

228 complete deficiency of complement C3 due to homozygous mutations in C3 gene: c.1811delT (Val604Glyfs

229 e identified 6 patients from 5 families with homozygous mutations in the YIPF5 gene, which is involve

230 besity in the general population, while NPC1 homozygous mutations may be frequent in the South Asian

231 tsa1/PRDX1 backgrounds leads to fixation of homozygous mutations or their loss along the lineage.

232 Similarly, homozygous mutations were found in all but one, leaving

233 whom 3190 (4.6%) were either heterozygous or homozygous (n=47) carriers of factor V Leiden.

234 Here we generated homozygous N40D subject-specific induced inhibitory neur

235 Notably, we identify a homozygous nonsense mutation in the DALRD3 gene that imp

236 t genetic studies revealed a novel, private, homozygous nonsense mutation in TYMP gene (c.

237 with DKC1 p.Glu206Lys and two children with homozygous NOP10 p.Thr16Met.

238 humans, however, disease was only evident in homozygous, not heterozygous, mutant mice.

239 Wbp11 homozygous null embryos die prior to E8.5, indicating th

240 Homozygous null mice demonstrated significantly prolonge

241 Dot1l is an essential gene, as homozygous null mutant mouse embryos exhibit multiple de

242 Five individuals with homozygous (one), compound-heterozygous (two), or de nov

243 Moreover, it is very difficult to obtain homozygous or biallelic knockout mutants in citrus.

244 ly rare that genotype-based ascertainment of homozygous or compound heterozygous 'knockout' humans wi

245 MF) is an autoinflammatory disease caused by homozygous or compound heterozygous gain-of-function mut

246 leukocytes from patients with FMF harboring homozygous or compound heterozygous mutations and from a

247 boma from four independent families carrying homozygous or compound heterozygous predicted damaging v

248 a253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state.

249 Humans homozygous or hemizygous for variants predicted to cause

250 one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or

251 hesis in wobbler mice, a murine model with a homozygous partial loss-of-function mutation in Vps54 (G

252 While homozygous pathogenic mutations in the NPC1 gene cause N

253 s presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented wi

254 s is predominantly caused by the HFE p.C282Y homozygous pathogenic variant.

255 Double homozygous plants from crossing fab2 and aad5 could neve

256 gametophyte lethal, although parental single homozygous plants were viable.

257 Compared with wild type animals, homozygous Polg(D275A) mice displayed a specific bone ph

258 ted subjects shared the same identical rare, homozygous, potentially pathogenic variant in a non-cano

259 n in a dosage-sensitive fashion, with 40% of homozygous progenitors failing to divide.

260 Homozygous protein C (PC) deficiency is a potentially fa

261 rds the opportunity to examine the effect of homozygous Psen1 Alzheimer's disease-associated mutation

262 Furthermore, homozygous (R337H+/R337H+) fibroblasts presented increas

263 Heterozygous and homozygous R405W-desmin knock-in mice develop both a myo

264 Juxtaposition of megabase heterozygous and homozygous regions causes crossover remodelling towards

265 Evaluation of homozygous regions in patient 1 identified a novel, nons

266 However, homozygous-resistant and heterozygous insects were able

267 Life history studies revealed that homozygous-resistant insects had similar development, re

268 TORC2 in mouse epidermis (epidermis-specific homozygous Rictor deletion [Ric(EKO)] mice).

269 the latter, equal amounts of PCR products of homozygous samples are mixed with wild-type control samp

270 ants deleted of the sole SEIPIN gene, seip-1 Homozygous seip-1 mutants displayed penetrant embryonic

271 The homozygous Sik1(S577A) mice showed a shorter wake time,

272 The heterozygous and homozygous Sik2(S587A) mice showed increased NREMS delta

273 oyed to identify patients with inactivating, homozygous SMARCA4 missense mutations who may benefit fr

274 Homozygous SMARCA4 mutations were highly prevalent in ce

275 ividual to Ash1 identified ~ 1 million fewer homozygous SNPs than alignment of those same sequences t

276 single nucleotide variants (SNVs), recessive/homozygous SNVs, or de novo copy number variants (CNVs);

277 viduals, we identified a subject harboring a homozygous splice-site mutation (c.2031-2A>C) in MPO.

278 ospective whole-exome sequencing confirmed a homozygous splice-site mutation in SMARCD2.

279 s (7/23) carried the mutation in an apparent homozygous state and 57% (13/23) in a likely compound he

280 new variant c.1664G > A (p.Gly555Glu) in the homozygous state, which has not been published in the li

281 limited to analysis of ATP7B mutants in the homozygous states.

282 pecies of alpha-synuclein from the brains of homozygous, symptomatic mice transgenic for human mutant

283 l strain, as TC doubles from heterozygous to homozygous TC muscles, Z-disks become increasingly out o

284 tein (TGFBIp) was significantly increased in homozygous TGFBI-R124C mice, suggesting a pathogenic rol

285 e models driven by Kras(G12D) expression and homozygous Trp53 loss.

286 Family 1 had two offspring with a homozygous truncating variant in EXOC2 that leads to non

287 Whole-exome sequencing revealed homozygous, truncating nonsense alleles in ADAMTS19 in a

288 ross three cancer types, of the frequency of homozygous TSG disruption in wild-type hosts compared to

289 oring heterozygous (Tubb4a(D249N/+)) and the homozygous (Tubb4a(D249N/D249N)) mutation that recapitul

290 In several double homozygous two-component strains and in one "All-in-one"

291 om consanguineous parents, carrying a third, homozygous variant c.95A>C, p.Asn32Thr.

292 tani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane

293 In one individual, a homozygous variant in one of the double-stranded RNA-bin

294 e adults and 1 child shared a novel missense homozygous variant in the TNNT1 gene (NM_003283.6: c.287

295 We identified 2 different homozygous variants in AK2.

296 le-exome sequencing revealed three different homozygous variants in Tetratricopeptide Repeat Domain 2

297 and further variant analysis identified rare homozygous variants in TKFC.

298 The TKFC homozygous variants reported here are located within the

299 Homozygous variants were also detected in 7 novel candid

300 n to consanguineous parents, and 82% carried homozygous variants.