Medical genetics: advances in brief: Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population [PDF]
A. Norman
openalex +1 more source
This study presents a novel AI‐based diagnostic approach—comprehensive serum glycopeptide spectra analysis (CSGSA)—that integrates tumor markers and enriched glycopeptides from serum. Using a neural network model, this method accurately distinguishes liver and pancreatic cancers from healthy individuals.
Motoyuki Kohjima+6 more
wiley +1 more source
Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]
Lesmana H+4 more
europepmc +1 more source
Exploring the role of cyclin D1 in the pathogenesis of multiple myeloma beyond cell cycle regulation
Cyclin D1 overexpression altered the cell adhesion pathway, while cyclin D2 upregulation had less impact on pathway enrichment analysis. Multiple myeloma (MM) patients with cyclin D1 overexpression showed reduced CD56 expression and increased circulating tumor cells (CTC) levels, suggesting that cyclin D1 may contribute to MM cell dissemination ...
Ignacio J. Cardona‐Benavides+13 more
wiley +1 more source
Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences. [PDF]
Baranova AV+3 more
europepmc +1 more source
Small extracellular vesicles are a promising source of diagnostic molecules. We conducted a comprehensive study, including transcriptome profiling and RT‐qPCR validation on large cohorts of samples. Diagnostic panels enabling sensitive detection of colorectal cancer and precancerous lesions were established. Some molecules were differentially expressed
Petra Vychytilova‐Faltejskova+26 more
wiley +1 more source
[Rare diseases in a medical genetics service of population with social security]. [PDF]
Jiménez-Pérez B+6 more
europepmc +1 more source
Stemness properties, including quiescence, self‐renewal, and chemoresistance, are closely associated with leukemia relapse. Here, we demonstrate that DNA damage‐inducible transcript 4 (DDIT4) is induced in the hypoxic bone marrow niche and is essential for maintaining the stemness of AML1‐ETO9a leukemia cells.
Yishuang Li+12 more
wiley +1 more source
Medical Genetics for Practicing Obstetrician. [PDF]
Sreelakshmi KN.
europepmc +1 more source