Raul A. Urrutia

STRUCTURAL AND MOLECULAR DYNAMICS ANALYSIS OF HUMAN β-DEFENSIN 1 VARIANTS REVEALS DISTINCT PERTURBATION SIGNATURES

This study analyzes molecular dynamics of hBD-1 variants to identify perturbation signatures and prioritize variants for structure-function testing.

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases

The paper classifies ABCC6 genetic variants using structural genomics to identify pathogenic mechanisms and reclassify variants of uncertain significance.

An Integrative Multitiered Computational Analysis for Better Understanding the Structure and Function of 85 Miniproteins

This paper identifies and annotates 85 human miniproteins using sequence analysis, computational biophysics, and structure prediction to uncover their structure-function relationships and novel biological roles.

KRAS Inhibition Reverses Chemotherapy Resistance Promoted by Therapy-Induced Senescence-like in Pancreatic Ductal Adenocarcinoma

This study shows that KRAS inhibition can reverse chemotherapy resistance in PDAC by targeting therapy-induced senescence-like cells, with ERK pathway involvement.

Advancing Variant Phenotyping in Myelodysplastic Syndromes via Computational Genomics of Mitochondrial Enzyme Complexes

This study uses computational structural genomics to analyze mitochondrial enzyme complexes in MDS, showing improved variant phenotyping compared to conventional methods.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

A Multi-Layered Computational Structural Genomics Approach Enhances Domain-Specific Interpretation of Kleefstra Syndrome Variants in EHMT1

This paper classifies EHMT1 variants into structural, dynamic, and combined structural-dynamic categories using computational methods to improve variant interpretation for Kleefstra syndrome.

Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape

The paper uses molecular dynamics simulations to analyze 86 KRAS mutations, revealing mutation-specific conformations and functional insights not captured by current genomic tools.

Microglia influence neurofilament deposition in ALS iPSC-derived motor neurons

This study investigates how microglia and astrocytes affect neurofilament accumulation in ALS iPSC-derived motor neurons, showing glial-secreted factors influence neurofilament pathology.

Discovery, Expression, Cellular Localization, and Molecular Properties of a Novel, Alternative Spliced HP1g Isoform, Lacking the Chromoshadow Domain

The paper identifies a novel alternatively spliced HP1g isoform, sHP1g, lacking the chromoshadow domain, and shows its expression across tissues and dysregulation in cancers.

Integration of Multi-level Molecular Scoring for the Interpretation of RAS-Family Genetic Variation

The paper develops and evaluates 3D structure-based scores for genomic variants and integrates them with sequence-based scores to better understand how variants affect protein function in the RAS gene family.

Ezh2-dependent epigenetic reprogramming controls a developmental switch between modes of gastric neuromuscular regulation

The paper shows Ezh2-mediated epigenetic repression drives the conversion of gastric interstitial cells of Cajal into fibroblast-like cells during development, with reversible effects upon Ezh2 inhibition.