ライフサイエンスコーパス: biallelic mutations

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

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

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

4 e observed when limited to participants with biallelic mutations.

5 75-99%, indicating that most cells contained biallelic mutations.

6 Biallelic mutations abrogating DNase activity cause auto

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

23 Biallelic mutations in ATM cause ataxia-telangiectasia (

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

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

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

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

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

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

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

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

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

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

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

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

36 Biallelic mutations in EIF2AK4 were identified in 5 pati

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

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

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

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

41 Biallelic mutations in Fanconi anemia complementation gr

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

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

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

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

46 Biallelic mutations in HPSE2 occur in UFS.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

85 Biallelic mutations in the base excision DNA repair gene

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

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

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

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

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

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

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

93 Biallelic mutations in the gene encoding DHOdehase [dihy

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

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

96 Biallelic mutations in the genes encoding the genome sur

97 Biallelic mutations in the genes encoding the three RNas

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

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

100 Biallelic mutations in the human breast cancer susceptib

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

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

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

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

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

106 Biallelic mutations in the neurofibromatosis 2 (NF2) gen

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

108 Biallelic mutations in the photoreceptor-expressed aryl

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

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

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

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

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

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

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

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

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

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

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

120 Biallelic mutations in WDR1 affecting distinct antiparal

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

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

123 Biallelic mutations including 2 likely novel mutations i

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

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

126 Biallelic mutations of Egr1 were not observed in MPDs in

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

128 Biallelic mutations of HPSE2 are discovered from UFS pat

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

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

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

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

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

134 Biallelic mutations of the structural PP2A Abeta subunit

135 Biallelic mutations of three prime repair exonuclease 1

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

137 All patients with biallelic mutations presented with severe hypertrophic a

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

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

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

141 Biallelic mutations were found in VPS33B, encoding VPS33

142 Biallelic mutations were identified in all patients, inc

143 No HNF1B variations or PKHD1 biallelic mutations were identified.

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