Categoría: REVIEW

BackgroundThe NIMA-related kinase (NEK) family comprises a group of serine/threonine kinases that play pivotal roles in cell cycle control. Emerging evidence has demonstrated that loss-of-function (LOF) mutations in NEK family members, particularly NEK…

The CCR5 locus and the HLA class I region, first identified through candidate gene studies, remain the most well-characterized host genetic factors associated with HIV acquisition and disease progression, respectively. To date, genome wide association …

Thalassemia and sickle cell disease are inherited hemoglobinopathies caused by pathogenic variants in the globin genes and represent a major global health burden. Despite major advances in screening and diagnostics, challenges persist due to extensive …

The ORMDL3 protein, encoded by the ORMDL3 gene, functions as a transmembrane protein in the endoplasmic reticulum. Initially identified through its genetic link to asthma susceptibility, ORMDL3 plays a key role in regulating sphingolipid metabolism by …

BackgroundVanishing white matter disease (VWMD; OMIM 603896), also known as childhood ataxia with central nervous system hypomyelination (CACH), is a rare autosomal recessive leukodystrophy caused by pathogenic variants in the EIF2B gene family (EIF2B1…