A novel <i>NR0B1</i> pathogenic variant in congenital adrenal hypoplasia presenting with azoospermia and normal testosterone. [PDF]
Meireles AR +3 more
europepmc +1 more source
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 novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report. [PDF]
Tao X, Yin M, Gang X.
europepmc +1 more source
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
Clinical characterization of 39 patients with autoimmune pulmonary alveolar proteinosis. [PDF]
Zhong YF, Lv X.
europepmc +1 more source
Liquid biopsy enables minimally invasive, real‐time molecular profiling through analysis of circulating biomarkers in biological fluids. This Perspective highlights the importance of training pathologists through integrative educational programs, such as the European Masters in Molecular Pathology, to ensure effective and equitable implementation of ...
Marius Ilié +13 more
wiley +1 more source
Genetic and clinical determinants of tacrolimus accumulation in early liver transplantation: evidence for a combined genotype-antibiotic effect. [PDF]
Guo J +6 more
europepmc +1 more source
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice +16 more
wiley +1 more source
Prevalence and risk factors of cholelithiasis in patients with spinal cord injury: A cross-sectional analysis. [PDF]
Fan R +5 more
europepmc +1 more source
Next‐generation proteomics improves lung cancer risk prediction
This is one of very few studies that used prediagnostic blood samples from participants of two large population‐based cohorts. We identified, evaluated, and validated an innovative protein marker model that outperformed an established risk prediction model and criteria employed by low‐dose computed tomography in lung cancer screening trials.
Megha Bhardwaj +4 more
wiley +1 more source

