Revealing genetic links of Type 2 diabetes that lead to the development of Alzheimer's disease

M Afzal, KS Alharbi, SI Alzarea, NM Alyamani, I Kazmi… - Heliyon, 2023 - cell.com
Background A factor leading to Alzheimer's Disease (AD), portrayed by peripheral insulin
resistance, is Type 2 diabetes mellitus (T2D). The likelihood of T2D cases would be at …

[HTML][HTML] HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation

A Vilas, Á Briso-Montiano, C Segovia-Falquina… - Molecular Genetics and …, 2024 - Elsevier
Abstract Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent congenital
disorder of glycosylation, is an autosomal recessive disease caused by biallelic pathogenic …

Phenotypic features, transcriptomic signatures and genomic regions associated with body ellipticity in the flatfish Senegalese sole

P Gayo, C Berbel, J Gómez-Maldonado, MG Claros… - Aquaculture, 2024 - Elsevier
Body shape is a complex and plastic trait with a high impact on fish performance and
commercialization. Shape is particularly relevant in flatfish with highly asymmetric bodies. In …

Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease

M Flook, E Rojano, A Gallego-Martinez… - Genes & …, 2024 - nature.com
Meniere Disease (MD) is a chronic inner ear disorder characterized by vertigo attacks,
sensorineural hearing loss, tinnitus, and aural fullness. Extensive evidence supporting the …

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

L Castilla-Vallmanya, M Centeno-Pla… - Journal of Medical …, 2023 - jmg.bmj.com
Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2,
mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially …

Exploring miRNA–target gene pair detection in disease with coRmiT

J Cordoba-Caballero, JR Perkins… - Briefings in …, 2024 - academic.oup.com
A wide range of approaches can be used to detect micro RNA (miRNA)–target gene pairs
(mTPs) from expression data, differing in the ways the gene and miRNA expression profiles …

[HTML][HTML] Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

D Gallego, M Serrano, J Cordoba-Caballero… - … et Biophysica Acta (BBA …, 2024 - Elsevier
Abstract PMM2-CDG (MIM# 212065), the most common congenital disorder of glycosylation,
is caused by the deficiency of phosphomannomutase 2 (PMM2). It is a multisystemic disease …

Transcriptomic signatures and genomic regions associated with growth in the flatfish Senegalese sole

P Gayo, C Berbel, M Manchado - Aquaculture, 2024 - Elsevier
Growth performance is a complex genetic trait that interacts with several environmental
variables and life-history attributes, most notably sex and reproduction. Thus, unveiling the …

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

B Morales-Romero, G Muñoz-Pujol, R Artuch… - Molecular Genetics and …, 2024 - Elsevier
The diagnosis of Mendelian disorders has notably advanced with integration of whole
exome and genome sequencing (WES and WGS) in clinical practice. However, challenges …

[HTML][HTML] Integrating differential expression, co-expression and gene network analysis for the identification of common genes associated with tumor angiogenesis …

B Monterde, E Rojano, J Córdoba-Caballero… - Journal of Biomedical …, 2023 - Elsevier
Angiogenesis is essential for tumor growth and cancer metastasis. Identifying the molecular
pathways involved in this process is the first step in the rational design of new therapeutic …