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 sly deleted, mimicking a frequently observed chromosomal deletion.

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

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

6 single or multiple gene knockouts and large chromosomal deletions.

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

8 OH events, while the other 3% had hemizygous chromosomal deletions.

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

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

11 ansmitted to subsequent generations as large chromosomal deletions.

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

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

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

15 tes, we identify heretofore unexpected large chromosomal deletions (91.2 and 136 Kb) at atypical non-

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

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

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

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

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

21 Rare chromosomal deletions and duplications are associated wi

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

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

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

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

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

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

28 Although chromosomal deletions and inversions are important in ca

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

30 ovo and inherited FBXW7 germline monoallelic chromosomal deletions and nonsense, frameshift, splice-s

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

32 d cases (n = 80) revealed that patients with chromosomal deletions and protein truncating variants ha

33 nsertions at DSBs prevent Cas9-induced large chromosomal deletions and provide evidence that continuo

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

35 Chromosomal deletions and rearrangements in tumors are o

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

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

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

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

40 MFS and UPS patient samples (n = 94) harbor chromosomal deletions and/or loss-of-function mutations

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

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

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

44 Chromosomal deletions are a common feature of epithelial

45 Large chromosomal deletions are among the most common molecula

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

47 Nested chromosomal deletions are powerful genetic tools.

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

49 Chromosomal deletions are used extensively in Drosophila

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

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

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

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

54 Chromosomal deletions associated with human diseases, su

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

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

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

58 tion mate-pair sequencing we have mapped the chromosomal deletion breakpoints of one MTS case and thr

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

60 These results demonstrate that large chromosomal deletions can be used as a tool for genome e

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

62 The chromosomal deletion causes CSNK1A1 haplo-insufficiency.

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

64 In addition, the recurrent 3p21.31 chromosomal deletion containing the RHOA tumor suppresso

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

66 Chromosomal deletions ("deficiencies') are powerful tool

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

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

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

70 High frequency of chromosomal deletions elicited as losses of heterozygosi

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

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

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

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

75 Chromosomal deletions, especially nested deletions, are

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

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

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

79 The large chromosomal deletions frequently observed in cancer geno

80 13q21 tumor suppressor locus, as defined by chromosomal deletion, harbors the KLF5 transcription fac

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

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

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

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

85 mined the role of the third most significant chromosomal deletion in human melanoma that inactivates

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

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

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

89 Somatic chromosomal deletions in cancer are thought to indicate

90 Recurrent chromosomal deletions in cancer are typically thought to

91 By engineering chromosomal deletions in D. melanogaster, we demonstrate

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

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

94 By inducing chromosomal deletions in individual shoot apical meriste

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

96 Chromosomal deletions in the fur-fhu and hupDGC regions

97 Chromosomal deletions in the sbcDC genes resulted in inc

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

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

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

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

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

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

104 Chromosomal deletion is frequent at the region between B

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

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

107 Among the 15 isolates with chromosomal deletions, multiple pulsed-field gel electro

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

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

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

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

112 Chromosomal deletion of either cyaA or cyaB did not affe

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

114 Chromosomal deletion of GSNOR results in pathologic prot

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

116 Chromosomal deletion of LST1 is not lethal, but inhibits

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

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

119 Chromosomal deletion of rhoII was successful, indicating

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

121 Chromosomal deletion of tcpF yields a mutant that retain

122 Chromosomal deletion of the corresponding gene in the ye

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

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

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

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

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

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

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

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

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

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

133 bus spindle-shaped virus (SSV9) conferred by chromosomal deletions of pilin genes, pilA1 and pilA2 th

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

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

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

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

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

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

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

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

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

143 erepression and ERV reactivation in AML with chromosomal deletions, providing a mechanistic explanati

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

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

146 Sixty-three chromosomal deletions reported here and elsewhere allow

147 Chromosomal deletions represent an important class of hu

148 These chromosomal deletions represent an important resource fo

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

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

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

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

153 opied in patients with the 5p- (Cri-du-Chat) chromosomal deletion syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

170 By CRISPR/Cas9-mediated chromosomal deletion, we dissected the functions of thes

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

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

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

174 Chromosomal deletions were detected by fluorescent in si

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

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

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

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

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

180 fectively introduce a spectrum of long-range chromosomal deletions with a single RNA guide in human e

181 sequencing, we identified 2 different large chromosomal deletions within the anthrose biosynthetic o