Instituto de Investigación de Enfermedades Raras

Tumor Necrosis is Associated with an Increased Metastatic and Cardiovascular Risk in Paragangliomas: A Single-Center Series and Meta-Analysis Comparing Necrosis and Cystic Degeneration in Paragangliomas

Abstract Paragangliomas (PGLs) are rare neural crest–derived tumors with highly variable morphology and clinical behavior. These tumors can present with cystic and necrotic alterations that may influence the clinical presentation of affected patients. However, prevalence and clin...

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.

) gene, which is associated with body mass index, cardiovascular health, and metabolic and respiratory traits. Taken together, our findings show that CIRdb presents a valuable resource of exome-wide genetic variation in a population at the edge of Southwestern European genetic di...

Chemical Stabilizationand Transformation of SchiffBase Scaffold: A Path toward Superior Platinum-Based Anti-Cancer StemCell Drugs

Abstract The clinical application of platinum-based anticancer agents is limited by poor aqueous stability, low solubility, and dose-limiting toxicities. Here, we report two Pt(II) complexes based on a Schiff base ligand and its reduced imine derivative, designed to overcome thes...

Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease

Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in ATP7B , which encodes a copper transporter. Abnormal ATP7B function leads to copper deposition, mainly in the liver and brain, resulting in hepatic, neurological, and psychiatric impairments. Metabo...

Circulating MMP-7 is associated with cognitive decline in individuals with vascular risk factors

Background Vascular risk factors contribute substantially to late-life cognitive impairment and interact with neurodegenerative processes underlying dementia. Blood–brain barrier (BBB) dysfunction has emerged as a key mechanism linking vascular pathology to cognitive decline; how...

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification

Purpose: To assess the pathogenicity of a novel duplication in the RP17 locus identified in a cone dystrophy proband with biallelic CEP290 variants. Structural variants (SVs) in this locus have previously been associated with dominant retinitis pigmentosa. Methods: Inheritance of...