ライフサイエンスコーパス: homozygous mutation

1 ous for this mutation, and one patient had a homozygous mutation.

2 .17-0.91) but not with the SDF-1alpha 3' UTR homozygous mutation.

3 roband and an affected sibling with the same homozygous mutation.

4 ed by mutation analyses designed to identify homozygous mutations.

5 he disease locus, in which we identified two homozygous mutations.

6 Men with the homozygous mutation (15% in controls) had half the risk

7 a hypoxia-sensing disorder characterized by homozygous mutation (598C>T) of von Hippel-Lindau gene (

8 ene, while those in the second family have a homozygous mutation 659_660delTA in the LIPH gene.

9 A novel homozygous mutation, a single base change of T(1360)-->G

10 We found two homozygous mutations, a splice-site and a nonsense mutat

11 Here we show that a homozygous mutation affecting a highly conserved MFSD2A

12 We show that homozygous mutations affecting exons 1-4 of human AMN le

13 , 64 discrepancies were flagged as potential homozygous mutations and 82 were flagged as potential he

14 ntal disomy (UPD), have been shown to harbor homozygous mutations and are a common feature in myelody

15 prior observations of a reduced frequency of homozygous mutations and might contribute to increased l

16 rom two patients carrying different types of homozygous mutations and showed that these iPSCs are plu

17 for selection to act on heterozygous versus homozygous mutations and the shielding of a proportion o

18 x additional affected subjects revealed four homozygous mutations and two compound heterozygotes.

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

20 A homozygous mutation associated with recessive inheritanc

21 Disease progression is accompanied by homozygous mutation at 1 of 2 loci (designated TSC1 or T

22 Mice with a homozygous mutation at the eIF2alpha phosphorylation sit

23 uniparental disomy, we identified concurrent homozygous mutations at four distinct loci (WT1, FLT3, C

24 ulator types that are thought to result from homozygous mutations at the RH30 and RH50 loci, respecti

25 obtained mice bearing both heterozygous and homozygous mutations at this locus.

26 ver if clonal evolution from heterozygous to homozygous mutations by mitotic recombination provides a

27 n a consanguineous family, we identified the homozygous mutation c.1127C>A in exon 7 of RIPK4 that re

28 Analyses of these data revealed homozygous mutation c.208G>T (p.Asp70Tyr) or c.878G>C (p

29 > C (p.Ile200Thr) and one family had another homozygous mutation c.214C > T (p.Arg72Trp).

30 q13.3, i.e. two families shared an identical homozygous mutation c.599T > C (p.Ile200Thr) and one fam

31 The deleterious nature of the homozygous mutation c.697T>C (p.Ser233Pro) was demonstra

32 d by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C

33 In another family, we identified a homozygous mutation (c.161T>C; p.Phe54Ser) in EDC3 in tw

34 A homozygous mutation (c.1877T > C) in STT3A causes a p.Va

35 In a fifth family, a homozygous mutation (c.740G>A [p.Arg247Gln]) altering a

36 apping and whole-exome sequencing identified homozygous mutations (c.355C>T [p.Arg119Cys] and c.751C>

37 We identified two unreported IL36RN homozygous mutations (c.41C>A/p.Ser14X and c.420_426del/

38 lies of different ethnicities, we identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG

39 Candidate gene sequencing identified a homozygous mutation, c.1411-2A > G, in the SAMHD1 gene,

40 DNA sequence analysis revealed a novel homozygous mutation, c.2000C>T, leading to the amino aci

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

42 we sequenced the P2RY5 gene and identified a homozygous mutation (C278Y) in all affected individuals

43 D) genomic DNA from the fibroblasts showed a homozygous mutation (C773T) changing proline to leucine

44 However, homozygous mutation carriers presumably lacking function

45 phenotypes can be obscured or impractical if homozygous mutations cause early embryonic defects.

46 pectrin (SPTBN2) underlie SCA type-5 whereas homozygous mutations cause spectrin associated autosomal

47 By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a heteroz

48 0.32; 95% CI, 0.15-0.68) among men with the homozygous mutation compared with those with the homozyg

49 We found that the monoallelic and homozygous mutations, DeltaE1279 and D1114G, in the RPGR

50 Sequencing of the affected boys showed a homozygous mutation, demonstrating that mutation in the

51 imate genomic mutation rates (U) and average homozygous mutation effects (s) from mutation-accumulati

52 1 and Su86.86 cell lines and a novel somatic homozygous mutation (H460R, in one of 11 pancreatic canc

53 tudy shows that the functional severity of a homozygous mutation impacts the severity of clinical fea

54 We identified one homozygous mutation in a JLN patient that results in the

55 rphism (A --> G) at Lys-129 that exists as a homozygous mutation in a neuroblastoma cell line and cor

56 riant of complex I deficiency due to a novel homozygous mutation in ACAD9.

57 Moreover, in 8 families with a homozygous mutation in an arthrogryposis-associated gene

58 am syndrome, and identified a patient with a homozygous mutation in an enhancer approximately 90 kb d

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

60 Whole exome sequencing identified a homozygous mutation in AP3D1 that leads to destabilizati

61 med exome sequencing and identified a single homozygous mutation in ATP13A2 that fully segregates wit

62 We detected a homozygous mutation in BLNK, which leads to the complete

63 d in HCC/1937 breast cancer cells carrying a homozygous mutation in BRCA1 but was restored by transfe

64 Sequencing of IL36RN identified a homozygous mutation in case 1 (Pro76Leu).

65 We identified 2 brothers with a homozygous mutation in CD27 leading to absence of CD27 e

66 Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23)

67 Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete

68 Mutation analysis revealed a different homozygous mutation in each family.

69 me, each affected child was found to carry a homozygous mutation in exon 17 of the POLG locus that le

70 red with defective LAT signaling caused by a homozygous mutation in exon 5, leading to a premature st

71 deficient patient keratinocytes, carrying a homozygous mutation in exon 80 (c.6527insC).

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

73 H1 mutations in two singleton subjects and a homozygous mutation in four siblings.

74 wish pedigree led to the identification of a homozygous mutation in FOXRED1 in a child who presented

75 he sibling with hearing loss also harbored a homozygous mutation in GJB2, c.71G>A (p.Trp24*), which i

76 A homozygous mutation in IL21 was discovered that showed p

77 Sequencing of genomic DNA and RNA revealed a homozygous mutation in intron 4 of STAT2 that prevented

78 Recently a homozygous mutation in its Sac domain was identified in

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

80 family, affected individuals had a distinct homozygous mutation in LRBA (lipopolysaccharide responsi

81 Others have described a homozygous mutation in NBCe1 (NBCe1-A p.Ala799Val) in an

82 Whole exomic sequencing evidenced a missense homozygous mutation in PLCZ1, c.1465A>T; p.Ile489Phe, co

83 a patient with SMA-like phenotype carrying a homozygous mutation in RBM7-a subunit of the nuclear exo

84 Cardiac fibrosis in subjects with homozygous mutation in SERPINE-1 was evaluated with late

85 can be inherited and have identified a novel homozygous mutation in SLC25A22 in the affected individu

86 formation by analysing mice with a targeted homozygous mutation in Tbx2.

87 h autosomal recessive SCAN1, we identified a homozygous mutation in TDP1 (A1478G) that results in the

88 Sequencing of HSF4 showed a homozygous mutation in the 5' splice site of intron 12 (

89 study we demonstrate, for the first time, a homozygous mutation in the alpha6 integrin gene (ITGA6)

90 Homozygous mutation in the ALS2 gene and the resulting l

91 Mice with an homozygous mutation in the c-rel region encoding the COO

92 Previously, a homozygous mutation in the CCAAT/enhancer binding protei

93 for HIV-1 entry into cells, and humans with homozygous mutation in the ccr5 gene are highly resistan

94 Furthermore, a previously identified homozygous mutation in the CEBPA gene coincided with a l

95 We now identify the homozygous mutation in the Chapel Hill strain of canine

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

97 DNA-PK-deficient cell line SCGR11 contains a homozygous mutation in the DNA-binding domain of p53, wh

98 skin and bowel and lung disease caused by a homozygous mutation in the EGFR gene.

99 Compared with WT mice, mice carrying a homozygous mutation in the fibrinogen gamma chain (Fibga

100 Four of 19 patients surveyed had a single, homozygous mutation in the gamma-sarcoglycan gene.

101 Prkdc(scid/scid) mice have a homozygous mutation in the gene encoding DNA-PK(cs) and,

102 Whole-exome sequencing revealed a homozygous mutation in the gene encoding mitochondrial r

103 ot carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit.

104 e porphyric phenotype is due to an inherited homozygous mutation in the gene encoding uroporphyrinoge

105 tient with mild low-renin hypertension and a homozygous mutation in the HSD11B2 gene.

106 The homozygous mutation in the hSEP1 mRNA in TE85 cell line

107 We identified a homozygous mutation in the human RHBDD2 gene, R85H, that

108 The recent discovery of a homozygous mutation in the immunoregulatory gene guanine

109 reviously established mouse model carrying a homozygous mutation in the key enzyme of sialic acid bio

110 alysis of the factor V gene revealed a novel homozygous mutation in the last nucleotide of exon 10.

111 ions in 2 affected sisters in 1 family and a homozygous mutation in the other family.

112 pound heterozygotes in one family and 1 as a homozygous mutation in the other family.

113 Here, we report the first homozygous mutation in the PPP1R15B gene (also known as

114 A homozygous mutation in the SUOX gene was identified, con

115 In this study, we identified a homozygous mutation in the tight-junction protein gene J

116 This homozygous mutation in the ultimate nucleotide of exon 1

117 We identified an N528S homozygous mutation in the VWF propeptide D2 domain, pre

118 Since homozygous mutation in TOR is lethal, it suggests that t

119 This report of a family with a homozygous mutation in TRNT1 expands the ocular phenotyp

120 In eight children, we identified a homozygous mutation in which glutamic acid at residue 47

121 in our uncharacterized DC patients revealed homozygous mutations in 6 of 132 families.

122 cular analysis of BAAT confirmed 4 different homozygous mutations in 8 patients tested.

123 Novel homozygous mutations in ADAMTS18 were identified, consis

124 Embryos with homozygous mutations in AML1 showed normal morphogenesis

125 the ATP6N1B locus, and identified different homozygous mutations in ATP6N1B in eight.

126 e (BBS9), supported by the identification of homozygous mutations in BBS patients.

127 Recurrent UPD11q led to identification of homozygous mutations in c-Cbl, an E3 ubiquitin ligase in

128 Recent publications have shown homozygous mutations in Cbl in human myeloid neoplasms.

129 patient with ASD; the recent finding of rare homozygous mutations in CNTNAP2 leading to intractable s

130 s issue, Israeli and colleagues confirm that homozygous mutations in corneodesmosin (CDSN) cause type

131 rated by breeding, a reliable method to make homozygous mutations in cultured cells has not been avai

132 d metabolic wasting (SAM syndrome) caused by homozygous mutations in DSG1.

133 to human cardiocutaneous syndromes caused by homozygous mutations in DSP.

134 We identified homozygous mutations in each of these BPS in two newly d

135 The disease cosegregates with homozygous mutations in five families and with two diffe

136 onsequence of mitotic recombination, contain homozygous mutations in genes known to be mutational tar

137 9 families carrying compound heterozygous or homozygous mutations in GTPBP3, encoding the mitochondri

138 Hairless mice carrying homozygous mutations in hairless gene manifest rudimenta

139 ected by AR isolated dystonia, we identified homozygous mutations in HPCA, a gene encoding a neuronal

140 We have identified two different homozygous mutations in human MCD (hMCD) by using RT-PCR

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

142 ts a new pathway to account for the multiple homozygous mutations in human tumors.

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

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

145 We demonstrate the recovery of cells with homozygous mutations in known and novel MMR genes.

146 with deafness, has been found to occur with homozygous mutations in KVLQT1 and KCNE1 in JLNS familie

147 Homozygous mutations in LTBP2 have been found in humans

148 Targeted sequencing revealed homozygous mutations in LYRM7, encoding mitochondrial LY

149 mal recessive form of CID is associated with homozygous mutations in MALT1.

150 sts from the proband, we have now identified homozygous mutations in membrane type-1 metalloproteinas

151 However, homozygous mutations in MITF have not been identified in

152 d data describing the embryonic lethality of homozygous mutations in Myh9.

153 Two homozygous mutations in NEUROD1 (c.427_ 428del and c.364

154 We identified two homozygous mutations in NEUROG3, both of which rendered

155 tosis (HLH) occurs in infancy resulting from homozygous mutations in NK and CD8 T cell cytolytic path

156 with a role for satellites in microcephaly, homozygous mutations in one satellite gene, CEP90, may c

157 nd DNHD1) each of which harbored independent homozygous mutations in patients with overlapping phenot

158 Here, we report homozygous mutations in peroxidasin (PXDN) in two consan

159 shared by 2 multiplex families identified 2 homozygous mutations in PGM3 that segregated with diseas

160 Homozygous mutations in PHGDH, a gene involved in the fi

161 whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected indiv

162 Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RI

163 In the mouse, homozygous mutations in Reln result in the reeler phenot

164 Digenic homozygous mutations in RNF216 and OTUD4, which encode a

165 Homozygous mutations in SLC30A10 lead to the development

166 om 13 families with compound heterozygous or homozygous mutations in SLC52A2.

167 amilies identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic

168 In conclusion, these observations show that homozygous mutations in SPARC can give rise to severe bo

169 order with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core trans

170 Homozygous mutations in the aromatic l-amino acid decarb

171 s with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified.

172 ll lines, derived from AT patients harboring homozygous mutations in the ATM gene, displayed an effic

173 Mice carrying homozygous mutations in the c-abl gene (abl-(m1) or abl2

174 trate the detection of both heterozygous and homozygous mutations in the cystic fibrosis transmembran

175 nconi anemia subtype J (FA-J) resulting from homozygous mutations in the FANCJ gene.

176 In Arabidopsis, homozygous mutations in the Fe(II)- and 2-oxoglutarate-d

177 murine embryonic stem (ES) cells containing homozygous mutations in the GATA-3 gene (GATA-3(-/-)) in

178 w that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ.

179 We identified three patients with homozygous mutations in the integrin alpha(3) gene that

180 We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal

181 We describe 2 novel homozygous mutations in the KINDLIN3 gene of a new Afric

182 Homozygous mutations in the l(3)mbt gene cause brain tum

183 Affected children have homozygous mutations in the MDR3 gene (also called ABCB4

184 Similarly in mouse, homozygous mutations in the Mitf gene disrupt the develo

185 In our study of three adult patients with homozygous mutations in the PCBD1 gene, two patients wer

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

187 and/or direct nucleotide sequencing revealed homozygous mutations in the plectin gene (PLEC1), encodi

188 e-exome sequencing analysis identified 2 new homozygous mutations in the recently described RAB28 gen

189 in 15% to 20% of AML cases, associated with homozygous mutations in the region of loss of heterozygo

190 traits and motor delay carrying deleterious homozygous mutations in the SLC7A5 gene.

191 e disorder of spinal motor neurons caused by homozygous mutations in the survival motor neuron (SMN1)

192 SMA is caused by homozygous mutations in the survival motor neuron 1 (SMN

193 Here we identify homozygous mutations in the TDP2 gene encoding tyrosyl D

194 xt generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX6

195 Homozygous mutations in TREM2 cause Nasu-Hakola disease,

196 Homozygous mutations in TREM2 or DAP12 cause Nasu-Hakola

197 th FTD-like disease, we identified different homozygous mutations in TREM2 that had previously been a

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

199 a total of 19 different mutations including homozygous mutations in two families with consanguineous

200 a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including

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

202 A line of bread wheat containing homozygous mutations in two waxy homoeologs created thro

203 Like human XP individuals, mice carrying homozygous mutations in XP genes manifest a predispositi

204 Here we present four unrelated patients with homozygous mutations in ZMPSTE24 and a fifth patient wit

205 Homozygous mutations in ZNF469 and PR domain-containing

206 quisition of segmental UPD and the resulting homozygous mutation is a common event associated with re

207 5% aborted seeds, indicating that the double homozygous mutation is embryo lethal.

208 The homozygous mutation is embryonic lethal by 13.5 days pos

209 we analyzed Klf6-/- mice and found that the homozygous mutation is embryonic lethal by embryonic day

210 phenotype in the heterozygous state, but the homozygous mutation is lethal.

211 ied a novel loss-of-function disease-causing homozygous mutation (K102*) in C8ORF37, a gene coding fo

212 Homozygous mutation (knockout) of the DNase II gene in m

213 We identified a homozygous mutation (M78V-V343A/M78V-V343A) and compound

214 We find that homozygous mutations may be isolated at three nonessenti

215 The phenotype associated with the homozygous mutation might be a consequence of complete l

216 Of note, homozygous mutations occurred in three cases, and two of

217 Homozygous mutation of 14-3-3sigma led to defects in emb

218 e show that the most common cause of MCPH is homozygous mutation of ASPM, the human ortholog of the D

219 We report a homozygous mutation of CNTNAP2 in Old Order Amish childr

220 was related to a switch from heterozygous to homozygous mutation of DCK.

221 (KLK4) is critical for enamel formation, and homozygous mutation of either protease results in hypomi

222 This was a result of a homozygous mutation of G-->A in the genome.

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

224 DNA, induced by zidovudine administration or homozygous mutation of mitochondrial polymerase gamma, i

225 Homozygous mutation of p130 had little discernible effec

226 We identified a homozygous mutation of SC5D (137A>C, Y46S) in this patie

227 A homozygous mutation of SERPINB6, a gene encoding an intr

228 nts are effective against adenomas that have homozygous mutation of the APC gene and also select agai

229 Here, we report the homozygous mutation of the c6orf130 gene in patients wit

230 Here we demonstrate that homozygous mutation of the Cbfb gene results in the same

231 Here we show that homozygous mutation of the gene encoding the dog adaptor

232 for a common haplotype and to have the same homozygous mutation of the KVLQT1 gene.

233 Here we show that homozygous mutation of the mouse homolog Tbx1 is associa

234 iomyopathy is a rare disease associated with homozygous mutation of the Natriuretic Peptide Precursor

235 tations in human renal cell carcinoma (RCC), homozygous mutation of the NF2 gene is found in approxim

236 pRTA is typically associated with homozygous mutation of the solute carrier 4 family gene

237 Despite homozygous mutation of the type II TGF-beta receptor, tw

238 A different homozygous mutation of this gene has been previously ass

239 The homozygous mutations of Eset resulted in peri-implantati

240 We identified homozygous mutations of IL1RN in nine affected children,

241 We found two distinct homozygous mutations of NDE1, c.83+1G>T (p.Ala29GlnfsX11

242 In humans, homozygous mutations of the ccr5 gene confer resistance

243 Homozygous mutations of the cystic fibrosis transmembran

244 Homozygous mutations of this gene cause one form of here

245 that the probands each harbored a different homozygous mutation (one missense, one nonsense, and one

246 Spinal muscular atrophy (SMA) is caused by homozygous mutation or deletion of the SMN1 gene encodin

247 MA) is a neurodegenerative disease caused by homozygous mutations or deletions in the survival of mot

248 We identified a homozygous mutation (p.622, encodes Ala>Thr) in RAD21 in

249 A third homozygous mutation (p.Asp502Tyr) and the p.Leu83Ser var

250 Another homozygous mutation (p.His372Gln) was detected in 1 affe

251 We describe 2 sibling HHS cases caused by a homozygous mutation (p.T567M) within the TERT T motif.

252 d 2 unrelated women aged 25 and 32 years had homozygous mutations (p.N48K).

253 al muscle sodium channel Nav 1.4, revealed a homozygous mutation predicting an arginine-to-histidine

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

255 developmentally normal patient had the same homozygous mutation (R278H) in DNA ligase IV as one of t

256 We have identified a homozygous mutation, R391H, in NUP155 that cosegregates

257 encing of LRP5 shows, in all three families, homozygous mutations R570Q, R752G, and E1367K.

258 Early retinal degeneration caused by a homozygous mutation (rd1) independent from that causing

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

260 al cortex and hippocampal formation, whereas homozygous mutations result in embryonic lethality.

261 The homozygous mutation resulted in the loss of polyadenylat

262 Homozygous mutations resulting in formation of alpha1(I)

263 ort the identification of a loss-of-function homozygous mutation (rs145092287) in CTPS1 in humans tha

264 the fourth pharyngeal arch arteries, whereas homozygous mutation severely disrupts the pharyngeal arc

265 n unrelated healthy individual with the same homozygous mutation spurred more in-depth analysis of th

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

267 A homozygous mutation (TGC --> TAC) in the second codon sh

268 wild-type l(2)gl expression identified three homozygous mutations that dramatically alter tumorigenes

269 uguese family (previously published) had two homozygous mutations; these changes were spread througho

270 All seven affected children had homozygous mutations (Thr224Asn or Glu238Lys, depending

271 Five additional homozygous mutations (two deletions and three missense m

272 The same homozygous mutation was also identified in an additional

273 region of the progranulin (GRN) locus and a homozygous mutation was demonstrated in GRN.

274 Homozygous mutation was detected in 22.4% of the mutant

275 In each family, one patient with a homozygous mutation was found.

276 The same homozygous mutation was identified in a human patient fr

277 A total of 4 different homozygous mutations were detected in 4 patients; 2 hete

278 Recently, homozygous mutations were found in patients with ichthyo

279 Three different homozygous mutations were identified and characterized:

280 Homozygous mutations were identified in the RSPO4 gene i

281 d a small subset of predominantly clonal and homozygous mutations, which were overrepresented in the

282 e or no alcohol as reference, those with the homozygous mutation who drank little or no alcohol had a

283 The ease and efficiency of obtaining homozygous mutations will (i) facilitate genetic studies

284 splicing defect is associated with multiple homozygous mutations within a 132-bp segment of the intr

285 s can detect heterozygous mutations and most homozygous mutations without electrophoretic or chromato