Institution
Agilent Technologies
Company•Santa Clara, California, United States•
About: Agilent Technologies is a company organization based out in Santa Clara, California, United States. It is known for research contribution in the topics: Signal & Mass spectrometry. The organization has 7398 authors who have published 11518 publications receiving 262410 citations. The organization is also known as: Agilent Technologies, Inc..
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TL;DR: Mosaic DICER1 mutations are an important cause of the DICer1 syndrome in patients with severe phenotypes and often appear to be accompanied by second somatic truncating mutations or LOH in the associated tumours.
Abstract: Background Somatic mosaicism is being increasingly recognised as an important cause of non-Mendelian presentations of hereditary syndromes. A previous whole-exome sequencing study using DNA derived from peripheral blood identified mosaic mutations in DICER1 in two children with overgrowth and developmental delay as well as more typical phenotypes of germline DICER1 mutation. However, very-low-frequency mosaicism is difficult to detect, and thus, causal mutations can go unnoticed. Highly sensitive, cost-effective approaches are needed to molecularly diagnose these persons. We studied four children with multiple primary tumours known to be associated with the DICER1 syndrome, but in whom germline DICER1 mutations were not detected by conventional mutation detection techniques. Methods and results We observed the same missense mutation within the DICER1 RNase IIIb domain in multiple tumours from different sites in each patient, raising suspicion of somatic mosaicism. We implemented three different targeted-capture technologies, including the novel HaloPlex HS (Agilent Technologies), followed by deep sequencing, and confirmed that the identified mutations are mosaic in origin in three patients, detectable in 0.24–31% of sequencing reads in constitutional DNA. The mosaic origin of patient 49s mutation remains to be unequivocally established. We also discovered likely pathogenic second somatic mutations or loss of heterozygosity (LOH) in tumours from all four patients. Conclusions Mosaic DICER1 mutations are an important cause of the DICER1 syndrome in patients with severe phenotypes and often appear to be accompanied by second somatic truncating mutations or LOH in the associated tumours. Furthermore, the molecular barcode-containing HaloPlex HS provides the sensitivity required for detection of such low-level mosaic mutations and could have general applicability.
59 citations
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01 Jan 2015-Food Additives and Contaminants Part A-chemistry Analysis Control Exposure & Risk Assessment
TL;DR: In the present study, coumarin and other marker compounds indicative of ‘cinnamon’ were analysed using DART-QToF-MS in various samples of cinnamon and involved the use of [M + H]+ ions in positive mode in addition to principal component analysis (PCA) using Mass Profiler Professional software to visualise several samples for quality.
Abstract: The use of cinnamon as a spice and flavouring agent is widespread throughout the world. Many different species of plants are commonly referred to as ‘cinnamon’. ‘True cinnamon’ refers to the dried inner bark of Cinnamomum verum J. S. Presl (syn. C. zeylanicum) (Lauraceae). Other ‘cinnamon’ species, C. cassia (Nees & T. Nees) J. Presl (syn. C. aromaticum Nees) (Chinese cassia), C. loureiroi Nees (Saigon cassia), and C. burmannii (Nees & T. Nees) Blume (Indonesian cassia), commonly known as cassia, are also marketed as cinnamon. Since there is a prevalence of these various types of ‘cinnamons’ on the market, there is a need to develop a rapid technique that can readily differentiate between true cinnamon (C. verum) and other commonly marketed species. In the present study, coumarin and other marker compounds indicative of ‘cinnamon’ were analysed using DART-QToF-MS in various samples of cinnamon. This method involved the use of [M + H]+ ions in positive mode in addition to principal component analysis (PCA)...
59 citations
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29 May 1998TL;DR: In this article, each authentication stamp contains information that is useful in authenticating the source of a digital image, and thus an authentication process can use the authentication stamp to determine whether the digital image is authentic or was modified outside the camera.
Abstract: Digital cameras and methods for using digital cameras incorporate or append authentication stamps in digital images. Each authentication stamp contains information that is useful in authenticating the source of a digital image, and thus an authentication process can use the authentication stamp to determine whether the digital image is authentic or was modified outside the camera.
59 citations
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TL;DR: In this paper, a mathematical description of the response of weakly nonlinear systems to second-order memory mechanisms is presented based on a time-varying gain-modulation function.
Abstract: We develop a mathematical description of the response of weakly nonlinear systems to second-order memory mechanisms. Our description is based on a time-varying gain-modulation function. We show that intermodulation (IM) products arising from interactions at baseband have phase symmetries different from both interactions at second harmonic frequencies and gain compression and, thus, may be readily distinguished through measurement. We also demonstrate a technique for measuring and aligning the phase of IM products outside the measurement bandwidth of our instrumentation to identify contributions to memory with broad frequency response.
59 citations
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TL;DR: Ageing of fibroblasts from both infant and adult donors was not accompanied by chromosomal abnormalities but was correlated with increased telomere repeat-binding factor 2 expression at both the protein and transcriptional level.
Abstract: The life span of normal fibroblasts in vitro (Hayflick limit) depends on donor age, and telomere shortening has been proposed as a potential mechanism. By quantitative fluorescence in situ hybridization and Southern blot analysis, we show progressive telomere loss to about 5 kb mean telomere restriction fragment length in fibroblasts from two adult donors within 40 population doublings, whereas in fibroblasts from two infant donors, telomere erosion is reduced, leaving a mean telomere restriction fragment length of ∼7 kb at senescence (after ∼60 population doublings). Aging of fibroblasts from both infant and adult donors was not accompanied by chromosomal abnormalities but was correlated with increased telomere repeat-binding factor 2 expression at both the protein and transcriptional level.
58 citations
Authors
Showing all 7402 results
Name | H-index | Papers | Citations |
---|---|---|---|
Hongjie Dai | 197 | 570 | 182579 |
Zhuang Liu | 149 | 535 | 87662 |
Jie Liu | 131 | 1531 | 68891 |
Thomas Quertermous | 103 | 405 | 52437 |
John E. Bowers | 102 | 1767 | 49290 |
Roy G. Gordon | 89 | 449 | 31058 |
Masaru Tomita | 76 | 677 | 40415 |
Stuart Lindsay | 74 | 347 | 22224 |
Ron Shamir | 74 | 319 | 23670 |
W. Richard McCombie | 71 | 144 | 64155 |
Tomoyoshi Soga | 71 | 392 | 21209 |
Michael R. Krames | 65 | 321 | 18448 |
Shabaz Mohammed | 64 | 188 | 17254 |
Geert Leus | 62 | 609 | 19492 |
Giuseppe Gigli | 61 | 541 | 15159 |