ライフサイエンスコーパス: chromosomal deletion

1 a - that is a consequence of an interstitial chromosomal deletion.

2 enotypic changes were accompanied by a large chromosomal deletion.

3 ioral impairment associated with the 16p11.2 chromosomal deletion.

4 t between the level of T-TFs and the rate of chromosomal deletions.

5 ined to be absent in all three patients with chromosomal deletions.

6 ts) have been shown to carry small and large chromosomal deletions.

7 or type 2 genes, respectively, causing gross chromosomal deletions.

8 single or multiple gene knockouts and large chromosomal deletions.

9 ansmitted to subsequent generations as large chromosomal deletions.

10 ly use micro-homologies and show significant chromosomal deletions.

11 efficiency of Cas9/sgRNAs in producing large chromosomal deletions (115-245 kb) involving three diffe

12 solates of Pseudomonas aeruginosa with large chromosomal deletions (66 to 270 kbp) and characterized

13 We developed a protocol based on chromosomal deletion and microarray analysis that led to

14 rescued when we corrected the MDS causative chromosomal deletion and severe apoptosis of the founder

15 CGH method that allows reliable detection of chromosomal deletions and amplifications with high resol

16 cal properties, are associated with specific chromosomal deletions and amplifications, and have marke

17 Another seven genes were affected by chromosomal deletions and are predicted to be nonfunctio

18 Rare chromosomal deletions and duplications are associated wi

19 malities (CNAs) such as somatically-acquired chromosomal deletions and duplications drive the develop

20 Large, rare chromosomal deletions and duplications known as copy num

21 d rarer more highly penetrant submicroscopic chromosomal deletions and duplications, known as copy nu

22 al mapping of disease-associated large-scale chromosomal deletions and for discovery of haploinsuffic

23 ividual strains as well as identifying large chromosomal deletions and highly polymorphic regions acr

24 ed the isolation of colonies harboring large chromosomal deletions and inversions (10% and 4% of colo

25 Although chromosomal deletions and inversions are important in ca

26 ites assumption, violations of which, due to chromosomal deletions and loss of heterozygosity, necess

27 grated vector proviruses are associated with chromosomal deletions and other rearrangements and are f

28 These genes are targets for large chromosomal deletions and rearrangements in cancer and a

29 Chromosomal deletions and rearrangements in tumors are o

30 ously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of the ch

31 We also demonstrate modelling of chromosomal deletions and targeted somatic engineering o

32 ploited this endogenous activity to generate chromosomal deletions and to insert an epitope into a ch

33 ion underlies some human disorders caused by chromosomal deletions and translocations.

34 oss of mRNA expression, frameshift mutation, chromosomal deletion, and missense mutation.

35 ting that loss of expression can result from chromosomal deletion, and that KLF5 may undergo haploins

36 cal translocation occurs at the MRS loci; 3) chromosomal deletion; and (4) trisomy of individual chro

37 Chromosomal deletions are a common feature of epithelial

38 Large chromosomal deletions are among the most common molecula

39 In fruit fly research, chromosomal deletions are indispensable tools for mappin

40 Nested chromosomal deletions are powerful genetic tools.

41 Many human Y-chromosomal deletions are thought to severely impair rep

42 Chromosomal deletions are used extensively in Drosophila

43 ational research and identifies interstitial chromosomal deletion as a novel mechanism to generate on

44 including single-nucleotide variants (SNVs), chromosomal deletions, as well as integration of extrach

45 tion analyses with a set of new and existing chromosomal deletions, as well as standard recombination

46 A chromosomal deletion (ash2(18)) has been identified that

47 Chromosomal deletions associated with human diseases, su

48 by linkage analysis and the map positions of chromosomal deletions associated with the disease.

49 Analysis of atypical small and rare chromosomal deletions at 7q11.23 points to TFII-I genes

50 iated with an increased number of additional chromosomal deletions, both hemi- and homozygous, especi

51 d clearly shows that a null allele caused by chromosomal deletion can have different phenotypic conse

52 y identified single nucleotide mutations and chromosomal deletions, can be used to identify a series

53 responsible for FOXO3a inactivity, including chromosomal deletion (chromosome 6q21), upregulation of

54 were done to test whether or not additional chromosomal deletions could enhance the excess chromosom

55 Chromosomal deletions ("deficiencies') are powerful tool

56 gene is generated by a cryptic interstitial chromosomal deletion, del(4)(q12q12), which indicates th

57 Most DGS cases are caused by a heterozygous chromosomal deletion del22q11, and the search for haploi

58 ts were routinely lost in the tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number

59 High frequency of chromosomal deletions elicited as losses of heterozygosi

60 One of these strains harbored a chromosomal deletion encompassing 15 open reading frames

61 related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 L

62 nd its expression in cancers is prevented by chromosomal deletions encompassing the Bik locus or by e

63 penoscrotal hypoplasia in two children with chromosomal deletions encompassing the entire HOXD clust

64 Chromosomal deletions, especially nested deletions, are

65 marker of underlying tumor biology and that chromosomal deletion events in this cancer likely target

66 ation of cog-192 revealed that it is a large chromosomal deletion extending from the 3' end of pspA t

67 ss of spermine synthase activity, since this chromosomal deletion extends well beyond the SpmS gene a

68 The large chromosomal deletions frequently observed in cancer geno

69 13q21 tumor suppressor locus, as defined by chromosomal deletion, harbors the KLF5 transcription fac

70 vious cytogenetic underascertainment of this chromosomal deletion has made it difficult to characteri

71 By contrast, the study of chromosomal deletions has been hampered by the large num

72 analysis and identification of patients with chromosomal deletion have refined the location of the RP

73 like Prader-Willi and Angelman syndromes, no chromosomal deletions have yet been identified.

74 ng is a reliable method for the detection of chromosomal deletion in myeloid malignancy, providing th

75 ith 2 patients with C3G-DDD and identified a chromosomal deletion in the complement factor H-related

76 which allows for the construction of defined chromosomal deletions in C. jejuni, and demonstrated the

77 Somatic chromosomal deletions in cancer are thought to indicate

78 Recurrent chromosomal deletions in cancer are typically thought to

79 e encoding LDC, cadA, was abolished by large chromosomal deletions in each Shigella species.

80 ggesting that the common occurrence of large chromosomal deletions in human tumours reflects selectiv

81 By inducing chromosomal deletions in individual shoot apical meriste

82 ve DNA elements frequently are precursors to chromosomal deletions in prokaryotes and lower eukaryote

83 Chromosomal deletions in the fur-fhu and hupDGC regions

84 Chromosomal deletions in the sbcDC genes resulted in inc

85 Male gyro (Gy) mice, which have an X chromosomal deletion inactivating the SpmS and Phex gene

86 Deletion complexes consisting of multiple chromosomal deletions induced at single loci can provide

87 proviruses, allowing us to characterize the chromosomal deletions, insertions, and translocations as

88 r but also of chromosome structure including chromosomal deletions, inversions, and translocations.

89 As expected, strains with chromosomal deletions involving the rgg structural gene

90 Sezary syndrome, including highly prevalent chromosomal deletions involving the TP53, RB1, PTEN, DNM

91 Chromosomal deletion is frequent at the region between B

92 enic failure than previously characterized Y-chromosomal deletions; it is often transmitted from fath

93 HPV16 integration event gave rise to a short chromosomal deletion limited to the local FRA3B region w

94 ophic phenotype and fully recovered when the chromosomal deletion mutation in CVD 1204 was repaired.

95 tein, cye-1::GFP reporter genes, and a cye-1 chromosomal deletion mutation.

96 chia coli K-12 strain was constructed with a chromosomal deletion (mutSdelta800) in the mutS gene tha

97 A strain with a chromosomal deletion of atpI grew nonfermentatively, and

98 Chromosomal deletion of either cyaA or cyaB did not affe

99 A strain carrying a chromosomal deletion of gcvB exhibits normal regulation

100 Chromosomal deletion of GSNOR results in pathologic prot

101 nthesis and invasion and ecf4 complemented a chromosomal deletion of lpxM encoding lipid A myristoyl

102 Chromosomal deletion of LST1 is not lethal, but inhibits

103 ery low isomerase activity to complement the chromosomal deletion of PDI1 in S. cerevisiae.

104 short-period circadian rhythm in mice with a chromosomal deletion of Rai1, support SMS as a circadian

105 Chromosomal deletion of rhoII was successful, indicating

106 maltose chemotaxis in a strain containing a chromosomal deletion of tar (delta tar).

107 Chromosomal deletion of tcpF yields a mutant that retain

108 Chromosomal deletion of the corresponding gene in the ye

109 SWI(+)] cells but diffuse in [swi(-)] cells; chromosomal deletion of the N-coding region resulted in

110 Chromosomal deletion of the NUMM gene or mutation of Zn-

111 involving a point mutation in one allele and chromosomal deletion of the other.

112 A mutant with a large chromosomal deletion of the PS B biosynthesis locus was

113 onella typhimurium (VNP20009), attenuated by chromosomal deletion of the purI and msbB genes, was fou

114 We constructed a chromosomal deletion of the region containing the 5' end

115 t spore formation if over-expressed, while a chromosomal deletion of their coding sequences results i

116 experiments that utilized strains that bear chromosomal deletions of fla/che P(A), P(D-3), or P(sigD

117 ate defined multiple mutants, and to produce chromosomal deletions of multiple adjacent genes.

118 luorescence in situ hybridization identified chromosomal deletions of one allele of HYAL1 in six of s

119 n hampered by the lack of readily accessible chromosomal deletions of the corresponding genes.

120 d by double cross-over integration effecting chromosomal deletions of up to 14.6 kb.

121 We document frequent chromosomal deletions of up to 2 kb at integration sites

122 alternative mechanisms, such as interstitial chromosomal deletion or reduced transcription.

123 Rare copy number variations (CNVs), such as chromosomal deletions or duplications, have been implica

124 ribed syndromes are being found to be due to chromosomal deletions or microdeletions.

125 Large-scale chromosomal deletions or other non-specific perturbation

126 on that fused IgH to c-myc, as well as large chromosomal deletions or translocations involving Igkapp

127 the loss of chromosomes or the generation of chromosomal deletions or translocations, which can lead

128 for using breakpoints in cis, forming small chromosomal deletions, rather than breakpoints in trans,

129 A Salmonella typhimurium chromosomal deletion removing approximately 19 kb of DNA

130 Sixty-three chromosomal deletions reported here and elsewhere allow

131 Chromosomal deletions represent an important class of hu

132 These chromosomal deletions represent an important resource fo

133 The improved selection of chromosomal deletion strains will be useful to nearly al

134 is congruent with the phylogeny generated by chromosomal deletions, suggesting that recombination is

135 orge syndrome (DGS) is the most common human chromosomal deletion syndrome and is frequently associat

136 type of myelodysplastic syndrome (MDS), is a chromosomal deletion syndrome characterized by anemia an

137 able phenotype despite the uniformity of the chromosomal deletion that causes the disease in most pat

138 Loss-of-function experiments utilizing a chromosomal deletion that encompasses the arhgef11 locus

139 eport a girl with bilateral split foot and a chromosomal deletion that includes the entire HOXD clust

140 causing gene and is located within a 22q11.2 chromosomal deletion that is associated with most cases

141 erved in homozygous larvae harboring a small chromosomal deletion that removed the D-La gene, which w

142 tic analysis shows that heterozygosity for a chromosomal deletion that removes CG3488 dominantly enha

143 lpha3 subunit (predominant in the nRT) and a chromosomal deletion that removes the Dbi gene.

144 gous deletions are likely to be interstitial chromosomal deletions that are below the detection limit

145 otent progenitors and may be associated with chromosomal deletions that can be detected in peripheral

146 rhabditis elegans, we identified overlapping chromosomal deletions that define a gene required for th

147 Most patients have chromosomal deletions that remove the entire maternal al

148 largely intact, most lethal lines contained chromosomal deletions that were roughly bounded by the i

149 ic lesions in the malignant clones are often chromosomal deletions; therefore, consensus regions of l

150 ontributions of aberrant DNA methylation and chromosomal deletions to tumor-suppressor gene (TSG) sil

151 Unidentified genetic aberrations such as chromosomal deletions, translocations and single nucleot

152 romosome arm, but no case of an interstitial chromosomal deletion was observed.

153 To understand the molecular basis for chromosomal deletions, we defined the extent of the dele

154 nic stem cells (ESCs) with nested hemizygous chromosomal deletions, we reveal that ribosomal protein

155 ty and virulence factor expression, in-frame chromosomal deletions were constructed in the coding seq

156 Chromosomal deletions were detected by fluorescent in si

157 radation, including pseudogene formation and chromosomal deletions, when compared with other S. Typhi

158 X-chromosomal deletions which include MAOB were found in p

159 s complex phenotype is associated with a new chromosomal deletion, which suggests potential roles for

160 curs preferentially in genes and accompanies chromosomal deletions, which may lead to loss-of-functio

161 This collection of nested chromosomal deletions will be useful for mapping and ide