Researchers from Radboud university medical center and University of Basel have discovered new genetic causes of inherited ...

Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...

Breast cancer is categorized into three major subtypes: hormone receptor-positive, HER2-positive, and triple-negative. Although there are targeted therapeutic approaches for the first two, there are ...

The schematic illustrates the comprehensive pipeline for Mendelian randomization analysis, starting with multi-omics data inputs from GWAS, eQTL, and pQTL studies, sourced from major databases such as ...

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the ...

In Mendelian inheritance patterns, you receive one version of a gene, called an allele, from each parent. These alleles can be dominant or recessive. Non-Mendelian genetics don’t completely follow ...

A new review brings to light the pivotal role of ribonucleases (RNases) in shaping the molecular foundation of Mendelian disorders. These essential enzymes, known for maintaining RNA metabolism, are ...

Non-coding RNA metabolism pathways disrupted upon mutations of the 12 selected RNases implicated in Mendelian diseases. SLFN14 was excluded as its mechanism of action has not yet been fully elucidated ...

A subset of patients with erectile dysfunction (ED) responds poorly to current pharmacological treatments, largely due to the limited availability of well-defined therapeutic targets beyond ...