Universidad del Desarrollo

Now showing 1 - 10 of 30

Some of the metrics are blocked by your
consent settings
Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer’s disease comorbidities
(Springer Science and Business Media LLC, 2025-04-03)
Carlos F. Hernández
;
Camilo Villaman
;
Costin Leu
;
Dennis Lal
;
Ignacio Mata
4
Some of the metrics are blocked by your
consent settings
How I Do It: Evaluating Cardiac Implantable Devices and Noncardiac Mimics on Chest Radiographs
(Radiological Society of North America (RSNA), 2025-05-01)
SILVA FUENTE ALBA, CLAUDIO SERGIO
;
Jared D. Christensen
This article provides a comprehensive review of the radiographic appearances of cardiac implantable electronic devices, other cardiac support apparatuses, and similar-appearing noncardiac devices, emphasizing the importance of accurate identification and evaluation for potential complications.
6
Some of the metrics are blocked by your
consent settings
Ínsula y su relación con las crisis epilépticas: Desde la interocepción al concepto de uno mismo.
(SciELO Agencia Nacional de Investigacion y Desarrollo (ANID), 2024-09)
Claudia Riffo Allende
;
CERIC GARRIDO, FRANCISCO JOSE
3
Some of the metrics are blocked by your
consent settings
Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy‐associated genetic missense variants
(2024)
Ludovica Montanucci
;
Tobias Brünger
;
Christian M. Boßelmann
;
Alina Ivaniuk
;
Eduardo Pérez‐Palma
<jats:title>Abstract</jats:title><jats:sec><jats:title>Objective</jats:title><jats:p>Determining the pathogenicity of missense variants in clinical genetic tests for individuals with epilepsy is crucial for guiding personalized treatment. However, achieving a definitive pathogenic classification remains challenging, with most missense variants still classified as variants of uncertain significance (VUS) and with the availability of many computational tools which may provide conflicting predictions. Here, we aim to evaluate the performance of state‐of‐the‐art computational tools in pathogenicity prediction of missense variants in epilepsy‐associated genes. This will assist in selecting the most appropriate tool and critically assess their use in clinical setting.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We assessed the performance of nine in silico pathogenicity prediction tools for missense variants in epilepsy‐associated genes on three carefully curated data sets. The first two data sets comprise missense variants in epilepsy associated genes that have been uploaded to ClinVar in the last year and were, therefore, not part of the training set of any of the nine considered tools. These two data sets are based on two different lists of epilepsy‐associated genes and comprise ~700 and ~ 250 missense variants, respectively. The third data set includes ~400 missense variants within epilepsy‐associated genes for which the functional effects have been determined experimentally and are therefore used here to infer pathogenicity. These three data sets represent the best available approximation to blind and independent test sets.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Among the nine assessed tools, AlphaMissense (area under the curve [AUC]: .93, .88, and .95) and REVEL (AUC: .93, .88, and .93) showed the best classification performance, also outperforming other tools in the number of classified variants.</jats:p></jats:sec><jats:sec><jats:title>Significance</jats:title><jats:p>We show which recently developed prediction tools achieve higher performance in epilepsy‐associated genes and should be integrated, therefore, into the American College of Medical Genetics and Genomics/Association of Molecular Pathology (AGMC/AMP) variant classification process. Periodic reevaluation of genetic test results with newly developed or updated tools should be incorporated into standard clinical practice to improve diagnostic yield and better inform precision medicine.</jats:p></jats:sec>
Scopus© Citations 2
Some of the metrics are blocked by your
consent settings
Psychiatric disorders secondary to nonconvulsive status epilepticus of frontal origin. Two clinical case reports
(2012)
ADA VICTORIA CHICHARRO CIUFFARDI
Scopus© Citations 4 3
Some of the metrics are blocked by your
consent settings
Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability
(2020)
REPETTO LISBOA, MARIA GABRIELA
2Scopus© Citations 2
Some of the metrics are blocked by your
consent settings
<i>SLC6A1</i> variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
(2023)
Arthur Stefanski
;
Eduardo Pérez-Palma
;
Tobias Brünger
;
Ludovica Montanucci
;
Cornelius Gati
<jats:title>Abstract</jats:title> <jats:p>Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making.</jats:p> <jats:p>We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and functional data for 184 variants (14.1% lp/p). Clinical and functional data were available for a subset of 126 individuals. We explored the potential associations of variant positions on the GAT1 3D structure with variant pathogenicity, altered molecular function and phenotype severity using bioinformatic approaches.</jats:p> <jats:p>The GAT1 transmembrane domains 1, 6 and extracellular loop 4 (EL4) were enriched for patient over population variants. Across functionally tested missense variants (n = 156), the spatial proximity from the ligand was associated with loss-of-function in the GAT1 transporter activity. For variants with complete loss of in vitro GABA uptake, we found a 4.6-fold enrichment in patients having severe disease versus non-severe disease (P = 2.9 × 10−3, 95% confidence interval: 1.5–15.3).</jats:p> <jats:p>In summary, we delineated associations between the 3D structure and variant pathogenicity, variant function and phenotype in SLC6A1-related disorders. This knowledge supports biology-informed variant interpretation and research on GAT1 function. All our data can be interactively explored in the SLC6A1 portal (https://slc6a1-portal.broadinstitute.org/).</jats:p>
Scopus© Citations 3 3
Some of the metrics are blocked by your
consent settings
Editorial: SLC6A1: the past, present and future
(2023)
Katrine M. Johannesen
;
Eduardo Pérez-Palma
;
Guido Rubboli
Scopus© Citations 2
Some of the metrics are blocked by your
consent settings
Over-activated hemichannels: A possible therapeutic target for human diseases
(2021)
Mauricio A. Retamal
;
Ainoa Fernandez-Olivares
;
Jimmy Stehberg
Scopus© Citations 11 13
Some of the metrics are blocked by your
consent settings
Data-driven historical characterization of epilepsy-associated genes
(2023)
Marie Macnee
;
PEREZ PALMA, EDUARDO ESTEBAN
;
Javier A. López-Rivera
;
Alina Ivaniuk
;
Patrick May
1 1Scopus© Citations 28

CRIS

Browse

Filters

Settings

Sort By

Results per page

Search Results