Molecular Oncology, EarlyView.The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués +3 more
wiley +1 more source
Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome [PDF]
, 2016 Daimei Sasayama +9 more
openalex +1 more source
Molecular Oncology, EarlyView.We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck +12 more
wiley +1 more source
A single 13-kilobase divergent locus in the Kaposi sarcoma-associated herpesvirus (human herpesvirus 8) genome contains nine open reading frames that are homologous to or related to cellular proteins [PDF]
, 1997 John Nicholas +6 more
openalex +1 more source
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity [PDF]
, 2022 Mathieu Quinodoz +8 more
openalex +1 more source
Strength through diversity: how cancers thrive when clones cooperate
Molecular Oncology, EarlyView.Intratumor heterogeneity can offer direct benefits to the tumor through cooperation between different clones. In this review, Kuiken et al. discuss existing evidence for clonal cooperativity to identify overarching principles, and highlight how novel technological developments could address remaining open questions.
Marije C. Kuiken +3 more
wiley +1 more source
Scientific ReportsBiallelic variants in the adenosine deaminase tRNA specific 3 (ADAT3) gene are associated with a distinct neurodevelopmental disorder characterized by dysmorphic facies, poor growth, cognitive impairment, and variable brain anomalies.
Karima Rafat +8 more
doaj +1 more source
Mosaic Structure of the Human Immunodeficiency Virus Type 1 Genome Infecting Lymphoid Cells and the Brain: Evidence for Frequent In Vivo Recombination Events in the Evolution of Regional Populations [PDF]
, 1999 Andrew Conway Morris +6 more
openalex +1 more source
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects [PDF]
, 2020 Hongyi Li +5 more
openalex +1 more source
Molecular Oncology, EarlyView.We developed a cost‐effective methylation‐specific droplet digital PCR multiplex assay containing tissue‐conserved and tumor‐specific methylation markers. The assay can detect circulating tumor DNA with high accuracy in patients with localized and metastatic colorectal cancer.
Luisa Matos do Canto +8 more
wiley +1 more source