Results 161 to 170 of about 13,095,395 (361)
Molecular Oncology, EarlyView.EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain +10 more
wiley +1 more source
The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community. [PDF]
, 2014 International audienceThe European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in ...
Charlotte Rodwell +3 more
core +1 more source
Molecular Oncology, EarlyView.RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner +14 more
wiley +1 more source
A Rare Opportunity in a Rare Disease [PDF]
Advances in Pulmonary Hypertension, 2018 Pulmonary hypertension (PH) is a chronic disease of the pulmonary vasculature, characterized by vessel remodeling that leads to increased pulmonary vascular resistance, right ventricular failure, and ultimately, death. While PH is somewhat simply defined as a mean pulmonary artery pressure (mPAP) on right heart catheterization (RHC) of greater than or ...
openaire +1 more source
Molecular Oncology, EarlyView.Here, we demonstrate that HS1BP3 interacts with Cortactin through a proline‐rich region (PRR3.1) and show that this interaction, and HS1BP3 itself, promote cancer cell proliferation and invasion. Inhibition of this interaction leads to build‐up of TKS5 in multivesicular endosomes and altered secretion of CD63 and CD9, providing an explanation for the ...
Arja Arnesen Løchen +9 more
wiley +1 more source
Molecular Oncology, EarlyView.Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou +12 more
wiley +1 more source
Zhongguo gonggong weishengObjectiveTo investigate the incidence, intensity, and influencing factors of catastrophic health expenditure (CHE) among families of patients with phenylketonuria (PKU) in China and to assess the contributions of various factors to the inequity in CHE ...
Hao DING +4 more
doaj +1 more source
Interpreting the effects of DNA polymerase variants at the structural level
Molecular Oncology, EarlyView.Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source
Evidence for rare diseases in ancient Egyptian mummies and skeletons [PDF]
, 2019 For more than 20 years the Institute for Mummies and the Iceman in Bolzano, Italy and the Department of Anthropology in Bern, Switzerland have been involved in the study of mummies and skeletal findings at various archaeological sites in Egypt.
Hower-Tillmann, Estelle, Lösch, Sandra
core
Adult sickle cell disease and SARS-CoV-2: an increasingly common comorbidity for a rare disease
Italian Journal of MedicineSickle cell disease (SCD) is a collection of genetic lesions that manifest in the diminished effectiveness of hemoglobin. We collected and reviewed the recent and extant literature on SARS-CoV-2 (COVID-19) and SCD.
Michaela Boggan +14 more
doaj +1 more source