ライフサイエンスコーパス: bi-allelic

1 the majority of the SNPs (84%) detected was bi-allelic, a substantial number was tri-allelic with li

2 Eleven HI patients had bi-allelic ABCA12 mutations, whereas in the remaining th

3 by the SmoA1 transgene was unchanged by the bi-allelic absence of Notch1, Notch2, or Hes5 genes.

4 hat developing thymocytes exhibit uniformed, bi-allelic activation of the Vbeta gene before V-DJ reco

5 er, in ovarian, breast and prostate cancers, bi-allelic alterations are mutually exclusive of each ot

6 er members of the HR pathway and if mono- or bi-allelic alterations of HR-related genes have a phenot

7 These bi-allelic alterations often associate with genomic feat

8 two markers 9.5 kb apart at the CD4 locus: a bi-allelic Alu deletion and a multi-allelic repeat.

9 Expression of the gene was bi-allelic and coequal in both control and affected indi

10 seven (53.8%) FGPs, including two cases with bi-allelic APC inactivation (truncating intragenic mutat

11 Here we demonstrate that bi-allelic Atm deletion in mouse models of Kras-mutant l

12 the pre-B ALL cell line BLIN-1, which has a bi-allelic deletion of p16(INK4a) p19(ARF) but does not

13 , a dic(9;20) chromosomal abnormality, and a bi-allelic deletion of the p16(INK4a) and p19(ARF) genes

14 In contrast, one MEF line that sustained bi-allelic deletions of INK4a initially remained diploid

15 Bi-allelic deletions of the tumor suppressor p16(Ink4a)

16 get the tyrosinase (Tyr) gene, achieving 88% bi-allelic editing and 42% homology-directed repair-medi

17 n, while the remaining third promoter drives bi-allelic expression of Peg3 with a paternal bias only

18 XIST occurs in fused cells and precedes the bi-allelic expression of selected Xi-genes by many heter

19 al transmission of the KO allele resulted in bi-allelic expression of the normally maternally express

20 Bi-allelic expression of truncated and/or non-DNA-bindin

21 In contrast, Mez1 displays a bi-allelic expression pattern in the embryonic tissue, a

22 TEN deletion combined with survivin mono- or bi-allelic gene deletion.

23 Patients with bi-allelic germline mutations in mismatch repair (MMR) g

24 One of 75 cancers had bi-allelic germline mutations in MYH and on retrospectiv

25 Bi-allelic germline MYH mutations cause approximately 1

26 of constructing near-perfect phylogenies on bi-allelic haplotypes, where the deviation from perfect

27 Bi-allelic inactivating mutations were found in the FXR1

28 re, the authors show that mutually exclusive bi-allelic inactivation of HR genes are present in other

29 gn, likely congenital tumor that arises from bi-allelic inactivation of NF1.

30 Bi-allelic inactivation of NF2 is known to cause multipl

31 nducing colonic polyposis after Cre-mediated bi-allelic inactivation of the Apc gene.

32 In nearly all the tumours analysed we found bi-allelic inactivation of TP53 and RB1, sometimes by co

33 ing a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have low

34 t frequencies at the Lef1 gene revealed that bi-allelic insertion of a PGK-Neo cassette occurred more

35 Acquired bi-allelic loss of PTEN was found in one of these patien

36 rray CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating

37 Nearly 3% of the human population carries bi-allelic loss-of-function variants in the gene encodin

38 e ancestry-specific allele frequencies for a bi-allelic marker given genotypes and local ancestries o

39 and their DNA analyzed for 104 Y-chromosome bi-allelic markers and 17 associated STR loci.

40 ey entail no loss of informativeness because bi-allelic markers are fully informative in analysing cr

41 ght can distinguish between mono-allelic and bi-allelic methylation of the MLH1 mismatch repair gene

42 ibit phenotypic consequences associated with bi-allelic Mez1 expression.

43 are often but not invariably associated with bi-allelic miR15a/miR16 loss.

44 We discovered bi-allelic missense mutations in ADAMTS3.

45 As expected, the bi-allelic mutant T(0) plant and the T(1) progeny homozy

46 d by defects in peroxisome biogenesis due to bi-allelic mutations in any of 13 different PEX genes.

47 Bi-allelic mutations in ARSs typically cause severe, ear

48 Bi-allelic mutations in BRCA2 are associated with a rare

49 Here, we report bi-allelic mutations in GPAA1 in ten individuals from fi

50 al magnetic resonance imaging, we identified bi-allelic mutations in INPP5K, encoding inositol polyph

51 sks of cancer (5 had mutations in APC, 3 had bi-allelic mutations in MUTYH, and 1 had a mutation in S

52 und in some retinoblastoma patients, exhibit bi-allelic mutations in RB1, the retinoblastoma gene, an

53 Using exome sequencing, we identified bi-allelic mutations in TANGO2 encoding transport and Go

54 eveloping breast, ovarian and other cancers; bi-allelic mutations in these genes clinically manifest

55 ns of the tumour suppressor genes, including bi-allelic mutations of both Pten and p53 in tumours.

56 ocyst rate, increased the number of targeted bi-allelic mutations, and resulted in similar degree of

57 to generate offspring with mono-allelic and bi-allelic mutations.

58 the CRISPR/Cas9 system to generate mono- and bi-allelic null mutations in the Tyr locus by zygote inj

59 We now report human bi-allelic P4HA1 mutations in a family with a congenital

60 enome Atlas (TCGA) data set and observe that bi-allelic pathogenic alterations in homologous recombin

61 We report bi-allelic pathogenic mutations in MDH2 in three unrelat

62 on of Mez2 and Mez3 is not imprinted, with a bi-allelic pattern of transcription for both genes in bo

63 The identification of bi-allelic PKD1L1 mutations recapitulates previous findi

64 In the present study, TNF genotypes of 3 bi-allelic polymorphisms were determined in 32 Caucasian

65 We report the discovery of bi-allelic RORC loss-of-function mutations in seven indi

66 t allows selective introduction of mono- and bi-allelic sequence changes with high efficiency and acc

67 D2 wild-type ccRCCs relative to tumours with bi-allelic SETD2 aberrations and that H3K36me3-negative

68 We find that bi-allelic SETD2 aberrations are not associated with mic

69 e association studies using large numbers of bi-allelic single nucleotide polymorphisms (SNPs) have b

70 Genotyping bi-allelic single nucleotide polymorphisms (SNPs) provid

71 r a recombining region within which a single bi-allelic site has experienced natural selection.

72 Global variation at the five bi-allelic sites (DYS271, DYS287, and the three point mu

73 of human populations using relatively dense, bi-allelic SNP data.

74 yses resulted in 32,313 highly confident and bi-allelic SNP markers.

75 Despite being bi-allelic, SNPs had similar correlations to genome-wide

76 lelic germline Nf1 gene loss is coupled with bi-allelic somatic (glial progenitor cell) Nf1 gene inac

77 to several epigenetic regulators, recovering bi-allelic targeted clones with a high efficiency of 60%

78 , in a single T-lineage cell that had stable bi-allelic TCR beta rearrangements.

79 re gene expression signature, the absence of bi-allelic TCRG deletion, CD13 surface expression, heter

80 me sequencing, we identified three different bi-allelic truncating mutations in TANGO2 in three unrel

81 'two-hit hypothesis' implicitly assumes that bi-allelic tumour suppressor gene (TSG) mutations cause

82 Given M sequences with N bi-allelic variable sites, an O(NM) algorithm to derive