Recent submissions
Now showing items 421-440 of 4698
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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 ... -
Molecular profiling of aromatase inhibitor sensitive and resistant ER+HER2- postmenopausal breast cancers.
(NATURE PORTFOLIO, 2023-07-07)Aromatase inhibitors (AIs) reduce recurrences and mortality in postmenopausal patients with oestrogen receptor positive (ER+) breast cancer (BC), but >20% of patients will eventually relapse. Given the limited understanding ... -
The proteomic landscape of soft tissue sarcomas.
(NATURE PORTFOLIO, 2023-06-29)Soft tissue sarcomas (STS) are rare and diverse mesenchymal cancers with limited treatment options. Here we undertake comprehensive proteomic profiling of tumour specimens from 321 STS patients representing 11 histological ... -
Robotic versus freehand CT-guided radiofrequency ablation of pulmonary metastases: a comparative cohort study.
(SPRINGER HEIDELBERG, 2023-04-18)PURPOSE: Radiofrequency ablation (RFA) is a curative treatment option for small lung metastases, which conventionally involves multiple freehand manipulations until the treating electrode is satisfactorily positioned. ... -
Sotrovimab restores neutralization against current Omicron subvariants in patients with blood cancer.
(CELL PRESS, 2023-05-08)Wu et al. report that patients with hematologic malignancies have reduced immunity against SARS-CoV-2 Omicron subvariants and Sotrovimab retains neutralizing capacity against all tested Omicron subvariants. -
Adjuvant Nivolumab Versus Ipilimumab in Resected Stage III/IV Melanoma: 5-Year Efficacy and Biomarker Results From CheckMate 238.
(American Association for Cancer Research (AACR), 2023-04-14)PURPOSE: In the phase III CheckMate 238 study, adjuvant nivolumab (NIVO) significantly improved recurrence-free survival (RFS) and distant metastasis-free survival versus ipilimumab (IPI) in patients with resected stage ... -
Liquid biopsy for children with central nervous system tumours: Clinical integration and technical considerations.
(FRONTIERS MEDIA SA, 2022-11-16)Circulating cell-free DNA (cfDNA) analysis has the potential to revolutionise the care of patients with cancer and is already moving towards standard of care in some adult malignancies. Evidence for the utility of cfDNA ... -
ctDNA guided diagnosis and management of gastrointestinal cancers
(Institute of Cancer Research (University Of London), 2023-07-05)Gastrointestinal (GI) cancers including pancreatic (PC), biliary tract (BTC) and colorectal cancers (CRC) rely on a tissue biopsy through invasive procedures such as endoscopies and colonoscopies. Timely diagnosis of these ... -
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 ... -
Geospatial immune variability illuminates differential evolution of lung adenocarcinoma.
(NATURE PORTFOLIO, 2020-07-01)Remarkable progress in molecular analyses has improved our understanding of the evolution of cancer cells toward immune escape1-5. However, the spatial configurations of immune and stromal cells, which may shed light on ... -
GI factors, potential to predict prostate motion during radiotherapy; a scoping review.
(ELSEVIER IRELAND LTD, 2023-05-01)PURPOSE: A scoping literature review was conducted to identify gastrointestinal (GI) factors most likely to influence prostate motion during radiotherapy. We proffer that patient specific measurement of these GI factors ...