Browsing by title
Now showing items 3223-3242 of 5457
-
Multiple spin echoes for the evaluation of trabecular bone quality
(ELSEVIER SCIENCE BV, 2002-03)We report a simple and efficient MR method for the evaluation of trabecular bone quality. This technique is based on detection and imaging of Multiple Spin-Echoes (MSE). a manifestation of the dipolar field generated by ... -
Multiplex-FISH (M-FISH): technique, developments and applications.
(2006-01)Multiplex FISH (M-FISH) represents one of the most significant developments in molecular cytogenetics of the past decade. Originally designed to generate 24 colour karyotyping, the technique has spawned many variations and ... -
Mutability of p53 hotspot codons to benzo(a)pyrene diol epoxide (BPDE) and the frequency of p53 mutations in nontumorous human lung
(2001-09-01)p53 mutations are common in lung cancer. In smoking-associated lung cancer, the occurrence of G:C to TA transversions at hotspot codons, e.g., 157, 248, 249, and 273, has been linked to the presence of carcinogenic chemicals ... -
Mutagenic fingerprint of ozone in human cells
(2002)Ozone is an important factor in urban pollution and represents a major concern for human health. The chemical reactivity of ozone toward biological targets and particularly its genotoxicity supports a possible link between ... -
Mutagens in human breast lipid and milk: The search for environmental agents that initiate breast cancer
(2002)Epidemiological studies indicate the involvement of environmental factors in the etiology of breast cancer, but have not provided clear indications of the nature of the agents responsible. Several environmental carcinogens ... -
Mutant IDH1 Downregulates ATM and Alters DNA Repair and Sensitivity to DNA Damage Independent of TET2.
(2016-08)Mutations in the isocitrate dehydrogenase-1 gene (IDH1) are common drivers of acute myeloid leukemia (AML) but their mechanism is not fully understood. It is thought that IDH1 mutants act by inhibiting TET2 to alter DNA ... -
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set
(2006-11)The panel of 60 human cancer cell lines (the NCI-60) assembled by the National Cancer Institute for anticancer drug discovery is a widely used resource. The NCI-60 has been characterized pharmacologically and at the molecular ... -
Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer.
(2015-08)The identification of early-stage breast cancer patients at high risk of relapse would allow tailoring of adjuvant therapy approaches. We assessed whether analysis of circulating tumor DNA (ctDNA) in plasma can be used to ... -
Mutational patterns in oncogenes and tumour suppressors
(2016-06)All cancers depend upon mutations in critical genes, which confer a selective advantage to the tumour cell. Knowledge of these mutations is crucial to understanding the biology of cancer initiation and progression, and to ... -
Mutational processes contributing to the development of multiple myeloma.
(2019-08-06)To gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding regions are ... -
Mutational Screen Identifies Critical Amino Acid Residues of β-Actin Mediating Interaction between Its Folding Intermediates and Eukaryotic Cytosolic Chaperonin CCT
(2001)Thethree-dimensional reconstruction of apo-CCT-α-actin by cryoelectron microscopy shows that actin binds either the CCTβ–CCTδ or the CCTϵ–CCTδ subunit pairs of the chaperonin in an open and apparently quasi-native conformation. ... -
Mutational signatures impact the evolution of anti-EGFR antibody resistance in colorectal cancer
Anti-EGFR antibodies such as cetuximab are active against KRAS/NRAS wild-type colorectal cancers (CRC) but acquired resistance invariably evolves. Which mutational mechanisms enable resistance evolution and whether adaptive ... -
The mutational signatures of formalin fixation on the human genome.
(NATURE PORTFOLIO, 2022-09-06)Clinical archives of patient material near-exclusively consist of formalin-fixed and paraffin-embedded (FFPE) blocks. The ability to precisely characterise mutational signatures from FFPE-derived DNA has tremendous ... -
Mutational signatures of ionizing radiation in second malignancies.
(2016-09-12)Ionizing radiation is a potent carcinogen, inducing cancer through DNA damage. The signatures of mutations arising in human tissues following in vivo exposure to ionizing radiation have not been documented. Here, we searched ... -
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
(2018-05)The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of ... -
Mutations in ALK signaling pathways conferring resistance to ALK inhibitor treatment lead to collateral vulnerabilities in neuroblastoma cells.
(BMC, 2022-06-10)BACKGROUND: Development of resistance to targeted therapies has tempered initial optimism that precision oncology would improve poor outcomes for cancer patients. Resistance mechanisms, however, can also confer new ... -
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
(2017-05)To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) ... -
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
(2020-07-23)Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ... -
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
(2007-09)Nonsense- mediated mRNA decay ( NMD) is of universal biological significance(1-3). It has emerged as an important global RNA, DNA and translation regulatory pathway(4). By systematically sequencing 737 genes ( annotated ...
