Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration [PDF]
, 2023 Aleksandar Videnović +7 more
openalex +1 more source
Relevance of mycotoxins to product quality and animal health in organic farming [PDF]
, 2002 Organic farming is not generally more endangered by the risk of contamination of the products with mycotoxins than other farming systems. Knowledge about the influence of litter beddings on mycotoxin exposure of livestock is rare.
Paulsen, Hans Marten +1 more
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Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology
Molecular Oncology, EarlyView.Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts +8 more
wiley +1 more source
Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases [PDF]
, 2019 Background: Pharmaceutical compounding of orphan active ingredients can offer cost-effective treatment to patients when no other drug product is available for a rare disease or during periods of drug product shortages.
Boussery, Koen +7 more
core +2 more sources
Molecular Oncology, EarlyView.This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian +10 more
wiley +1 more source
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. [PDF]
, 2018 Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use
Alver, Maris +38 more
core +1 more source
YAP1::TFE3 mediates endothelial‐to‐mesenchymal plasticity in epithelioid hemangioendothelioma
Molecular Oncology, EarlyView.The YAP1::TFE3 fusion protein drives endothelial‐to‐mesenchymal transition (EndMT) plasticity, resulting in the loss of endothelial characteristics and gain of mesenchymal‐like properties, including resistance to anoikis, increased migratory capacity, and loss of contact growth inhibition in endothelial cells.
Ant Murphy +9 more
wiley +1 more source
Molecular Oncology, EarlyView.Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande +11 more
wiley +1 more source
P-17 Importance of the ortopantomographic study for the detection of life-treatening rare diseases [PDF]
, 2016 A rapid diagnostic of some Rare Diseases (RD) can save the patent's life.
Adserias Garriga, Maria José +5 more
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