GIIS062-Genética Clínica y Genómica Funcional

Lechuga-Vieco A, Latorre Pellicer A, Calvo E, Torroja C, Pellico J, Acín-Pérez R, García-Gil M, Santos A, Bagwan N, Bonzon-Kulichenko E, Magni R, Benito M, Justo-Méndez R, Simon A, Sánchez-Cabo F, Vázquez J, Ruíz-Cabello J, Enríquez J. Heteroplasmy of Wild-Type Mitochondrial DNA Variants in Mice Causes Metabolic  Heart Disease With Pulmonary Hypertension and Frailty. CIRCULATION. 10.1161/CIRCULATIONAHA.121.056286. Q-1. F.I-38,7

Garcia P, Fernandez-Hernandez R, Cuadrado A, Coca I, Gomez A, Maqueda M, Latorre Pellicer A, Puisac Uriol B, Ramos Fuentes F, Sandoval J, Esteller M, Luis Mosquera J, Rodriguez J, Pié Juste J, Losada A, Queralt E. Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome Nature Communications. 10.1038/s41467-021-24808-z. Q-1. F.I-15,7

Gonzalez-Franquesa A, Gama-Perez P, Kulis M, Szczepanowska K, Dahdah N, Moreno-Gomez S, Latorre Pellicer A, Fernández-Ruiz R, Aguilar-Mogas A, Hoffman A, Monelli E, Samino S, Miró-Blanch J, Oemer G, Duran X, Sanchez-Rebordelo E, Schneeberger M, Obach M, Montane J, Castellano G, Chapaprieta V, Sun W, Navarro L, Prieto I, Castaño C, Novials A, Gomis R, Monsalve M, Claret M, Graupera M, Soria G, Wolfrum C, Vendrell J, Fernández-Veledo S, Enríquez J, Carracedo A, Perales J, Nogueiras R, Herrero L, Trifunovic A, Keller M, Yanes O, Sales-Pardo M, Guimerà R, Blüher M, Martín-Subero J, Garcia-Roves P. Remission of obesity and insulin resistance is not sufficient to restore  mitochondrial homeostasis in visceral adipose tissue. Redox Biology. 10.1016/j.redox.2022.102353. Q-1. F.I-11,9

Cabrera-Alarcon J, Cruz R, Rosa-Moreno M, Latorre Pellicer A, Diz de Almeida S, Riancho J, Rojas-Martinez A, Flores C, Lapunzina P, Sanchez-Cabo F, Carracedo A, Antonio Enriquez J, Scourge Cohort Grp . Shaping current European mitochondrial haplogroup frequency in response to infection: the case ofSARS-CoV-2severity Communications Biology. 10.1038/s42003-024-07314-y. Q-1. F.I-5,1

Arnedo Muñoz M, Ros-Pardo D, Puisac Uriol B, Lucia Campos C, Gil Salvador M, Latorre Pellicer A, Marcos-Alcalde I, Pié Juste J, Gomez-Puertas P. Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 10.3390/ijms26178266. Q-1. F.I-4,9

del Rincon J, Gil Salvador M, Lucia Campos C, Acero L, Trujillano L, Arnedo Muñoz M, Pamplona Valenzuela P, Ayerza Casas A, Puisac Uriol B, Ramos Fuentes F, Pié Juste J, Latorre Pellicer A. AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 10.3390/ijms26167964. Q-1. F.I-4,9

Arnedo Muñoz M, Ascaso Matamala Á, Latorre Pellicer A, Lucia Campos C, Gil Salvador M, Ayerza Casas A, Pablo M, Gómez-Puertas P, Ramos Fuentes F, Bueno Lozano M, Pié Juste J, Puisac Uriol B. Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene  and the PACS-1 Protein and Novel Therapeutic Approaches. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 10.3390/ijms23179649. Q-1. F.I-4,9

Latorre Pellicer A, Latorre A, Castellanos M, Lafuente-Gomez N, Diaz C, Crespo-Barreda A, Lecea M, Cordani M, Martín Duque M, Somoza A. Albumin-based nanostructures for uveal melanoma treatment Nanomedicine-Nanotechnology Biology and Medicine. 10.1016/j.nano.2021.102391. Q-2. F.I-4,6

Kontaxis S, Gil Herrando E, Marozas V, Lázaro Plaza J, Garcia E, Posadas de Miguel M, Siddi S, Bernal Ruíz M, Aguilo J, Haro J, De la Cámara Izquierdo C, Laguna Lasaosa P, Bailón Luesma R. Photoplethysmographic Waveform Analysis for Autonomic Reactivity Assessment in Depression IEEE TRANSACTIONS ON BIOMEDICAL ENGINEERING. 10.1109/TBME.2020.3025908. Q-2. F.I-4,5

Gil Salvador M, Trujillano L, Lucia Campos C, Del Rincon J, Pamplona Valenzuela P, Arnedo Muñoz M, Puisac Uriol B, Marcos-Alcalde I, Gomez-Puertas P, Ramos Fuentes F, Pié Juste J, Latorre Pellicer A. Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome Scientific Reports. 10.1038/s41598-025-07268-z. Q-1. F.I-3,9