Recent submissions
Now showing items 61-80 of 622
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Quantitative Proteomics of Synaptosomal Fractions in a Rat Overexpressing Human DISC1 Gene Indicates Profound Synaptic Dysregulation in the Dorsal Striatum.
(FRONTIERS MEDIA SA, 2018-02-06)Disrupted-in-schizophrenia 1 (DISC1) is a key protein involved in behavioral processes and various mental disorders, including schizophrenia and major depression. A transgenic rat overexpressing non-mutant human DISC1, ... -
A novel role for NUPR1 in the keratinocyte stress response to UV oxidized phospholipids.
(ELSEVIER, 2019-01-01)Ultraviolet light is the dominant environmental oxidative skin stressor and a major skin aging factor. We studied which oxidized phospholipid (OxPL) mediators would be generated in primary human keratinocytes (KC) upon ... -
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
(PUBLIC LIBRARY SCIENCE, 2019-09-01)Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and cognitive impairment. In spite of progress made in our general understanding of BBS ... -
Nuclear Translocation of Glutaminase GLS2 in Human Cancer Cells Associates with Proliferation Arrest and Differentiation.
(NATURE PORTFOLIO, 2020-02-10)Glutaminase (GA) catalyzes the first step in mitochondrial glutaminolysis playing a key role in cancer metabolic reprogramming. Humans express two types of GA isoforms: GLS and GLS2. GLS isozymes have been consistently ... -
The Lack of Dopamine Transporter Is Associated With Conditional Associative Learning Impairments and Striatal Proteomic Changes.
(FRONTIERS MEDIA SA, 2022-03-18)Dopamine (DA) is critically involved in different functions of the central nervous system (CNS) including control of voluntary movement, affect, reward, sleep, and cognition. One of the key components of DA neurotransmission ... -
Very large hidden genetic diversity in one single tumor: evidence for tumors-in-tumor.
(OXFORD UNIV PRESS, 2022-12-12)Despite the concern of within-tumor genetic diversity, this diversity is in fact limited by the kinship among cells in the tumor. Indeed, genomic studies have amply supported the 'Nowell dogma' whereby cells of the same ... -
Nuclear gene proximity and protein interactions shape transcript covariations in mammalian single cells.
(NATURE RESEARCH, 2020-10-28)Single-cell RNA sequencing studies on gene co-expression patterns could yield important regulatory and functional insights, but have so far been limited by the confounding effects of differentiation and cell cycle. We apply ... -
Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome.
(BMC, 2018-05-31)BACKGROUND: Natural selection shapes cancer genomes. Previous studies used signatures of positive selection to identify genes driving malignant transformation. However, the contribution of negative selection against somatic ... -
Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes.
(NATURE PORTFOLIO, 2017-10-13)Tumors are composed of an evolving population of cells subjected to tissue-specific selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene identification. Here, we integrate cancer cell ... -
Allele balance bias identifies systematic genotyping errors and false disease associations.
(WILEY, 2019-01-01)In recent years, next-generation sequencing (NGS) has become a cornerstone of clinical genetics and diagnostics. Many clinical applications require high precision, especially if rare events such as somatic mutations in ... -
Single-cell genetic analysis of clonal dynamics in colorectal adenomas indicates CDX2 gain as a predictor of recurrence.
(WILEY, 2019-04-01)Colorectal adenomas are common precancerous lesions with the potential for malignant transformation to colorectal adenocarcinoma. Endoscopic polypectomy provides an opportunity for cancer prevention; however, recurrence ... -
Chromosome-level assembly of Arabidopsis thaliana Ler reveals the extent of translocation and inversion polymorphisms.
(NATL ACAD SCIENCES, 2016-07-12)Resequencing or reference-based assemblies reveal large parts of the small-scale sequence variation. However, they typically fail to separate such local variation into colinear and rearranged variation, because they usually ... -
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.
(BMC, 2020-05-27)BACKGROUND: Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of ... -
Adjuvant olaparib in the subset of patients from Japan with BRCA1- or BRCA2-mutated high-risk early breast cancer from the phase 3 OlympiA trial.
(SPRINGER JAPAN KK, 2023-07-01)BACKGROUND: The efficacy and safety of olaparib compared with placebo in the subset of patients from Japan in the phase 3 OlympiA trial (NCT02032823) are reported here and contextualized with reference to the global OlympiA ... -
Development of chemical tool compounds targeting the non-catalytic functions of tankyrase
(Institute of Cancer Research (University Of London), 2023-06-16)Tankyrase (TNKS1 and TNKS2) is a promising target in anti-cancer drug discovery due to its role in regulating cellular processes which are dysregulated in cancer. In addition to catalysing the poly(ADP-ribosyl)ation of ... -
Investigating determinants of sensitivity and resistance to T cell redirecting antibodies in colorectal cancer through patient derived organoid models
(Institute of Cancer Research (University Of London), 2023-06-12)Most colorectal cancers (CRCs) do not respond to treatment with immune-checkpoint-inhibitors due to modest mutation loads, low cytotoxic T cell infiltrates, and immunosuppressive microenvironments. The CEA-TCB bispecific ... -
Frequency and risk factors for major complications after stereotactic radiofrequency ablation of liver tumors in 1235 ablation sessions: a 15-year experience.
(SPRINGER, 2021-05-01)OBJECTIVES: To assess the frequency of major complications after multi-probe stereotactic radiofrequency ablation (SRFA) in a large cohort of patients over 15 years and to elucidate risk factors for adverse events. MATERIALS ... -
Stereotactic Radiofrequency Ablation of Breast Cancer Liver Metastases: Short- and Long-Term Results with Predicting Factors for Survival.
(SPRINGER, 2021-08-01)PURPOSE: To evaluate safety, local oncological control, long-term outcome and potential prognostic factors of stereotactic RFA (SRFA) for the treatment of BCLMs. METHODS: Between July 2003 and December 2019, 42 consecutive ... -
Reliability of Stereotactic Radiofrequency Ablation (SRFA) for Malignant Liver Tumors: Novice versus Experienced Operators.
(MDPI, 2023-01-22)PURPOSE: To compare the results of a novice with those of experienced interventional radiologists (IRs) for stereotactic radiofrequency ablation (SRFA) of malignant liver tumors in terms of safety, technical success, and ... -
Normal organ dosimetry for thyroid cancer patients treated with radioiodine as part of the multi-centre multi-national Horizon 2020 MEDIRAD project.
(SPRINGER, 2023-09-01)PURPOSE: Dosimetry is rarely performed for the treatment of differentiated thyroid cancer patients with Na[131I]I (radioiodine), and information regarding absorbed doses delivered is limited. Collection of dosimetry data ...