ライフサイエンスコーパス: biallelic mutations

1 e observed when limited to participants with biallelic mutations.

2 75-99%, indicating that most cells contained biallelic mutations.

3 fied in 16 of 179 (9%) families; 14 harbored biallelic mutations.

4 and from 3% to 100% at the SlDMR6, including biallelic mutations.

5 g and provide frameworks to model and detect biallelic mutations.

6 gions of all linked genes failed to identify biallelic mutations.

7 coding eEF1A2, obtaining a high frequency of biallelic mutations.

8 role of TP53, patients harbor both mono- and biallelic mutations(10).

9 Biallelic mutations abrogating DNase activity cause auto

10 The model accurately predicted CDH1 biallelic mutations (accuracy = 0.95) and diagnosed ILC

11 ccurs early in life as a result of monogenic biallelic mutations affecting lymphocyte cytotoxicity.

12 To our knowledge, no germline biallelic mutations affecting this complex have been rep

13 In the tumors of carriers of biallelic mutations, all somatic APC mutations were G:C-

14 K genes, we demonstrated 45-86% frequency of biallelic mutations and the successful creation of singl

15 though TP53 defects are rare in de novo AML, biallelic mutations are a defining molecular feature of

16 Sporadic mono- and biallelic mutations are found at high frequencies in AML

17 Moreover, BAP1-acquired biallelic mutations are frequent in human cancers.

18 athologic criteria for the identification of biallelic mutations are poor.

19 AM is an elegant model of malignancy because biallelic mutations at a single genetic locus confer all

20 LbCpf1 generated biallelic mutations at nearly 100% efficiency at four in

21 es classified by the AI model as having CDH1 biallelic mutations but lacking these alterations displa

22 cell-derived dendritic cells (iPS-DCs) with biallelic mutations can be used to investigate the regul

23 f breast, pancreatic, and other cancers, and biallelic mutations cause Fanconi anemia (FA).

24 dentified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized h

25 Biallelic mutations either in the cubilin (CUBN) or amni

26 Biallelic mutations for Y165C and/or G382D were not foun

27 However, no patient with null biallelic mutations has ever been described, and murine

28 To date, biallelic mutations in 31 ARS genes are known to cause r

29 We detected biallelic mutations in 37 patients from 28 families of v

30 Additional screening of RTEL1 identified biallelic mutations in 6/23 index cases with HHS but non

31 We thereby detected biallelic mutations in a key component of DAP-encoding g

32 We describe biallelic mutations in a nuclear encoded gene, DNAJC30,

33 vity to ionizing radiation that is caused by biallelic mutations in A-T mutated (ATM), a gene encodin

34 by three different mt-ARS defects caused by biallelic mutations in AARS2, EARS2, and RARS2, using an

35 s a severe hepatocellular cholestasis due to biallelic mutations in ABCB11 encoding the canalicular b

36 Xeroderma pigmentosum (XP) results from biallelic mutations in any of eight genes involved in DN

37 disease Fanconi Anemia (FA) is identified by biallelic mutations in any one of twenty-three FANC gene

38 Arginase deficiency is caused by biallelic mutations in arginase 1 (ARG1), the final step

39 rge cohorts of affected individuals revealed biallelic mutations in ARHGEF18 in three such individual

40 Biallelic mutations in ATM cause ataxia-telangiectasia (

41 t1 and Tet2 into zygotes generated mice with biallelic mutations in both genes with an efficiency of

42 es derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2

43 ur individuals from unrelated families where biallelic mutations in C1QBP cause a defect in mitochond

44 Unlike patients with biallelic mutations in CARD11 causing severe CID, the R3

45 TD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40.

46 Here we identified biallelic mutations in CDK4 as a cause of microcephaly a

47 me sequencing, we identified three different biallelic mutations in CHRNA3, which encodes the alpha3

48 RDEB is caused by biallelic mutations in COL7A1 encoding the extracellular

49 ing, we identified five individuals carrying biallelic mutations in COQ4.

50 Biallelic mutations in CPT2 cause carnitine palmitoyltra

51 Biallelic mutations in DDX41 are observed at a low frequ

52 hat Wilms tumors may also be associated with biallelic mutations in DICER1 or DROSHA, crucial for miR

53 uinity and find familial ASD associated with biallelic mutations in disease genes (AMT, PEX7, SYNE1,

54 als, whole-exome sequencing (WES) identified biallelic mutations in DNAJC12, which encodes a heat sho

55 up of these individuals, defined by germline biallelic mutations in DNAJC21 (DNAJ homolog subfamily C

56 Biallelic mutations in DNAJC6 cause a complex, early-ons

57 In both families we identify biallelic mutations in DNASE2, associated with a loss of

58 Biallelic mutations in Dock2 have been identified in pat

59 trate-resistant acid phosphatase, identified biallelic mutations in each of the cases studied, and in

60 Here, we report biallelic mutations in EFL1 in 3 unrelated individuals w

61 Biallelic mutations in EIF2AK4 were identified in 5 pati

62 Biallelic mutations in either TMC6 or TMC8 are detected

63 We thereby detected biallelic mutations in EMP2 (epithelial membrane protein

64 In summary, we show that biallelic mutations in EXTL3 disturb glycosaminoglycan s

65 rikingly, we found that EUFA867 also carries biallelic mutations in FANCA.

66 re complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described.

67 Biallelic mutations in Fanconi anemia complementation gr

68 es consistent with Filippi syndrome revealed biallelic mutations in four subjects.

69 a rare neurodegenerative disorder caused by biallelic mutations in GBA and buildup of glycosphingoli

70 Biallelic mutations in Gba cause Gaucher disease (GD), a

71 Biallelic mutations in GBA1 reduce lysosomal acid beta-g

72 f the cerebral architecture and is caused by biallelic mutations in genes coding for a subset of cent

73 Patients harbored biallelic mutations in genes encoding the spliceosome co

74 Individuals with pathogenic biallelic mutations in genes of the glycosylphosphatidyl

75 The recent recognition of biallelic mutations in genes that affect either collagen

76 aple syrup urine disease (MSUD) results from biallelic mutations in genes that encode the branched-ch

77 autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single

78 LCA1.15 patients with genetically confirmed biallelic mutations in GUCY2D were included in this phas

79 Biallelic mutations in HPSE2 occur in UFS.

80 disability, and muscular hypotonia revealed biallelic mutations in IARS.

81 es multiplexed single-guide RNAs to generate biallelic mutations in injected zebrafish embryos, allow

82 Biallelic mutations in interphotoreceptor matrix proteog

83 induced pluripotent stem cells (hIPSCs) with biallelic mutations in IRF5, demonstrating for the first

84 Here we have described biallelic mutations in IRF8, which encodes an interferon

85 distinct retinal phenotype that results from biallelic mutations in KCNJ13 should facilitate the mole

86 erythrokeratoderma, but our study shows that biallelic mutations in KDSR are implicated in an extende

87 ng and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seve

88 In contrast, we have recently found that biallelic mutations in LIG4 are a common cause of microc

89 at a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repe

90 hy Aicardi-Goutieres syndrome, we identified biallelic mutations in LSM11 and RNU7-1, which encode co

91 ing pattern of leukoencephalopathy to detect biallelic mutations in LYRM7 in patients with biochemica

92 We report here novel germline biallelic mutations in MAD1L1, encoding the spindle asse

93 oxide production in PCD and (2) discovery of biallelic mutations in multiple PCD-causing genes.

94 dividuals with MYH-associated polyposis have biallelic mutations in MYH, a base excision repair gene,

95 ation is not restricted to the rare cases of biallelic mutations in NAD synthesis pathway genes.

96 We identified biallelic mutations in NANS, the gene encoding the synth

97 dividuals with fever-dependent RALF revealed biallelic mutations in NBAS.

98 Here, we report that biallelic mutations in NCAPD2, NCAPH, or NCAPD3, encodin

99 Although biallelic mutations in non-collagen genes account for <1

100 At least some of these genes show biallelic mutations in nonconsanguineous families as wel

101 anemia is a genetic disorder resulting from biallelic mutations in one of the 17 FANC genes.

102 n was decreased, comparable to patients with biallelic mutations in one of the genes in the degranula

103 PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), simi

104 HLH (FHL) is traditionally based on finding biallelic mutations in patients with HLH symptoms and re

105 We identified biallelic mutations in PDXK in 5 individuals from 2 unre

106 whole-exome sequencing approach, identified biallelic mutations in PEX1 or PEX6 in six of them.

107 Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leadin

108 polymerase delta complex caused by germline biallelic mutations in POLD1 or POLD2 as the underlying

109 PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial diseas

110 c lymphohistiocytosis (HLH) can be caused by biallelic mutations in PRF1, encoding perforin, or UNC13

111 a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five ind

112 all young-onset patients, 10 (3.3%) carried biallelic mutations in PRKN or PINK1.

113 Biallelic mutations in Protein O-mannosyltransferase 1 (

114 They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrro

115 patients with Griscelli syndrome type 2 with biallelic mutations in RAB27A in the absence of albinism

116 Here we report the identification of biallelic mutations in Receptor Expression Enhancer Prot

117 igher nasal nitric oxide in individuals with biallelic mutations in RSPH1 provides evidence of a uniq

118 Using whole-exome sequencing, we identified biallelic mutations in RTEL1, encoding a helicase essent

119 ied a transforming MLL-NRIP3 fusion gene and biallelic mutations in SETD2 (encoding a histone H3K36 m

120 Inherited forms of HLH are caused by biallelic mutations in several effectors of granule-depe

121 syndrome is a rare human disorder caused by biallelic mutations in SIL1 characterized by cataracts i

122 s a rare neurodegenerative disease caused by biallelic mutations in SLC17A5, encoding the lysosomal s

123 We detected biallelic mutations in SLC26A1 (solute carrier family 26

124 Biallelic mutations in SLC38A3 lead to postnatal progres

125 VT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively

126 immunodeficiency who was found to have novel biallelic mutations in SLP76.

127 emented by wildtype SLX4, demonstrating that biallelic mutations in SLX4 (renamed here as FANCP) caus

128 In recent years, it has become apparent that biallelic mutations in some of these genes, such as BRCA

129 ome (RJALS) patient cells with monogenic and biallelic mutations in SPRTN are hypersensitive to DPC-i

130 We report that biallelic mutations in TBCD, encoding one of the five co

131 ive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene.

132 Interestingly, patients with biallelic mutations in the actin nucleating factor DIAPH

133 Biallelic mutations in the alanyl-transfer (t)RNA synthe

134 e synthetase deficiency (ASNSD) results from biallelic mutations in the ASNS gene.

135 tic disease, still incurable, resulting from biallelic mutations in the ataxia telangiectasia-mutated

136 A-T is caused by biallelic mutations in the ataxia-telangiectasia mutated

137 Ataxia-telangiectasia (A-T), caused by biallelic mutations in the ATM gene, leads to multiple d

138 Biallelic mutations in the base excision DNA repair gene

139 However, it was recently discovered that biallelic mutations in the BER DNA glycosylase MYH lead

140 Nine ARB patients carried biallelic mutations in the BEST1 gene, and in 1 patient

141 of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8 gene, which encodes a tr

142 DA defects, we found that 6/38 (16%) carried biallelic mutations in the conserved zinc-finger gene BL

143 Biallelic mutations in the DCPS gene disrupting the deca

144 Results We identified biallelic mutations in the dedicator of cytokinesis 2 ge

145 De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of t

146 the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initia

147 Generation of robust biallelic mutations in the F0 would allow for phenotypic

148 The disease is caused by biallelic mutations in the GAN gene located on 16q23.2,

149 ency of acid beta-glucosidase (GCase) due to biallelic mutations in the GBA (glucosidase, beta, acid)

150 Biallelic mutations in the gene encoding DHOdehase [dihy

151 e exome sequencing (WES), we have identified biallelic mutations in the gene encoding poly(A)-specifi

152 Here we show that biallelic mutations in the gene SNORD118, encoding the b

153 Biallelic mutations in the genes encoding the genome sur

154 Biallelic mutations in the genes encoding the three RNas

155 We validated the ability to generate biallelic mutations in the germ line by creating materna

156 Biallelic mutations in the glucocerebrosidase (GBA1) gen

157 ons in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding pr

158 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS])

159 None of the GSD Ia HCA had biallelic mutations in the HNF1A gene.

160 Biallelic mutations in the human breast cancer susceptib

161 Recently, biallelic mutations in the human MutY homologue (hMYH) h

162 Here we show that biallelic mutations in the human XRCC1 gene are associat

163 We thereby detected biallelic mutations in the IFT-B-encoding gene IFT172 in

164 Biallelic mutations in the ITK gene cause a T-cell prima

165 Biallelic mutations in the LONP1 gene are known to cause

166 syndrome (CHS) is a rare disorder caused by biallelic mutations in the lysosomal trafficking regulat

167 Biallelic mutations in the MUTYH gene predispose individ

168 Missense biallelic mutations in the MYO9A gene, encoding an uncon

169 Biallelic mutations in the neurofibromatosis 2 (NF2) gen

170 sheath Schwann cell tumors characterized by biallelic mutations in the neurofibromatosis type 1 (NF1

171 Most schwannomas have biallelic mutations in the NF2 tumor suppressor gene.

172 While biallelic mutations in the PALB2 tumor suppressor cause

173 Biallelic mutations in the photoreceptor-expressed aryl

174 gocytic lymphohistiocytosis (HLH) arise from biallelic mutations in the PRF1, UNC13D, STXBP2, and STX

175 named RECON (RECql ONe) syndrome, caused by biallelic mutations in the RECQL gene.

176 12 patients with retinal dystrophy caused by biallelic mutations in the retinaldehyde-binding protein

177 Patients with a genetic (biallelic mutations in the SBDS gene) or clinical diagno

178 SDS patients harbor biallelic mutations in the SBDS gene, resulting in low l

179 Biallelic mutations in the SBDS or EFL1 genes in SDS imp

180 Here we report biallelic mutations in the sorbitol dehydrogenase gene (

181 th hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5.

182 We included a group of 12 patients with biallelic mutations in the WFS1 gene and a control group

183 A group of 12 patients with biallelic mutations in the WFS1 gene recruited from the

184 We show that individuals with biallelic mutations in these genes of seemingly central

185 The newly identified recessive biallelic mutations in these six genes represent the mol

186 anconi anemia-D1 subtype are born alive with biallelic mutations in this gene.

187 Here, we identify biallelic mutations in three patients from two unrelated

188 s of COB identified six families affected by biallelic mutations in TMTC3 (encoding transmembrane and

189 Recently, biallelic mutations in TREX1 have been shown to cause Ai

190 Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RN

191 Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-

192 Therefore, biallelic mutations in TSC2 and associated molecular dys

193 siological changes in human neurons but that biallelic mutations in TSC2 are necessary to induce gene

194 However, only biallelic mutations in TSC2 resulted in elevated neurona

195 We identified biallelic mutations in TXNL4A, a member of this complex,

196 In patients with biallelic mutations in UNC13D, STX11, or STXBP2 associat

197 mal intracellular protein trafficking due to biallelic mutations in VPS45 underlies a new immunodefic

198 Biallelic mutations in WDR1 affecting distinct antiparal

199 We report the identification of biallelic mutations in XRCC4 in five families.

200 t mutation analysis, we identified recessive biallelic mutations in ZMYND10 in 14 families and mutati

201 Biallelic mutations including 2 likely novel mutations i

202 t gene induced nephrogenic defects; however, biallelic mutations involving small in-frame deletions d

203 We identified biallelic mutations of ACVR2 in 25 of 28 MSI colorectal

204 Here, we report biallelic mutations of C6orf221 in three families with F

205 Prior studies showed that biallelic mutations of CLPB are associated with a syndro

206 Biallelic mutations of Egr1 were not observed in MPDs in

207 Biallelic mutations of EIF2AK4, which encodes the kinase

208 we also report four cases of MM relapse with biallelic mutations of GPRC5D after anti-GPRC5D TCE ther

209 Previously, biallelic mutations of hMYH have been identified in a Br

210 Biallelic mutations of HPSE2 are discovered from UFS pat

211 Our genetic studies identified biallelic mutations of PRUNE1 as responsible.

212 Recently, we identified biallelic mutations of SLC25A46 in patients with multipl

213 Biallelic mutations of the CEBPA gene (CEBPAbi) define a

214 PVOD may be sporadic or heritable because of biallelic mutations of the EIF2AK4 gene coding for GCN2.

215 inally, the heritable form of PVOD is due to biallelic mutations of the EIF2AK4 gene.

216 tion of miniature swine containing mono- and biallelic mutations of the LDL receptor gene as models o

217 olecular genetic analysis showed that 25 had biallelic mutations of the MYH gene.

218 Biallelic mutations of the structural PP2A Abeta subunit

219 Biallelic mutations of three prime repair exonuclease 1

220 However, only neurons with biallelic mutations of TSC2 demonstrated hyperactivity a

221 rested clones of renal progenitor cells with biallelic mutations of WT1; recently, it has been found

222 to histologic whole-slide images using CDH1 biallelic mutations, pathognomonic for invasive lobular

223 All patients with biallelic mutations presented with severe hypertrophic a

224 Biallelic mutations reveal ultraviolet light damage hots

225 lellic PRKN mutations, we found that 44% had biallelic mutations, suggesting that previous estimates

226 es in aging human esophagus reveals frequent biallelic mutations that block NOTCH1 signaling.

227 were obtained to analyze the BEST1 gene for biallelic mutations that confirmed the diagnosis of ARB.

228 Curiously, most colorectal tumors carry biallelic mutations that result in only partial loss of

229 and the existence or location of cells with biallelic mutations ("two-hit" cells) was unclear.

230 fluorescence (MCF), and CD107a MCF to detect biallelic mutations were 59.5%, 96.6%, and 93.8%, with s

231 Biallelic mutations were found in VPS33B, encoding VPS33

232 Biallelic mutations were identified in all patients, inc

233 No HNF1B variations or PKHD1 biallelic mutations were identified.

234 CRC that developed in the context of biallelic mutations were microsatellite stable.

235 Biallelic mutations were revealed in ACP4: paternal (NM_

236 Here we identify 18,295 biallelic mutations, where the same base is mutated inde

237 nically the most prevalent symptom caused by biallelic mutations within the leucine zipper-like trans