Portal de investigación
PID10470. No se ingresará dinero en el CIPF. La ayuda consiste en un estudio genómico (long & read-sequencing) para 25 muestras.
Datos básicos
- Código Financiador:
- Año inicial:
- 2020
- Año final:
- 2023
Documentos
- No hay documentos
Participantes
Grupos de Investigación
Financiadores
Resultados del Proyecto
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism
Baviera-Munoz, R; (...); Espinos, C
Article. 10.1212/NXG.0000000000000642. 2021
A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.
Penning LC; (...); Weiskirchen R
Article. 10.3390/biomedicines11020420. 2023
A Comprehensive Transcriptional Signature in Pancreatic Ductal Adenocarcinoma Reveals New Insights into the Immune and Desmoplastic Microenvironments.
Pérez-Díez I; (...); García-García F
Article. 10.3390/cancers15112887. 2023
A deep transcriptome meta-analysis reveals sex differences in multiple sclerosis.
Català-Senent JF; (...); García-García F
Article. 10.1016/j.nbd.2023.106113. 2023
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy
Argente-Escrig, H; (...); Sevilla, T
Article. 10.1111/nan.12817. 2022
Acclimation and Blood Sampling: Effects on Stress Markers in C57Bl/6J Mice.
Marin N; (...); Bisbal V
Article. 10.3390/ani13182816. 2023
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C; (...); Jordanova A
Article. 10.1016/j.gim.2024.101117. 2024
An integrated approach to identifying sex-specific genes, transcription factors, and pathways relevant to Alzheimer's disease.
López-Cerdán A; (...); García-García F
Article. 10.1016/j.nbd.2024.106605. 2024
Beyond the Brain: MIDS Extends BIDS to Multiple Modalities and Anatomical Regions.
Saborit-Torres JM; (...); de la Iglesia-Vayá M
Article. 10.3233/SHTI220674. 2022
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Baviera-Muñoz R; (...); Espinós C
Article. 10.1016/j.jns.2021.118062. 2021
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
Lafhal K; (...); Fdil N
Article. 10.1016/j.ymgmr.2023.100984. 2023
Common pathways and functional profiles reveal underlying patterns in Breast, Kidney and Lung cancers.
Romera-Giner S; (...); Hidalgo MR
Article. 10.1186/s13062-021-00293-8. 2021
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Peña-Chilet M; (...); Dopazo J
Article. 10.1093/nar/gkaa794. 2021
Characterisation of peptidylprolyl isomerase C as a novel player in the pathogenesis of chronic liver disease
Fuster-Martínez, I; (...); Blas-García, A
Meeting Abstract. 10.1016/s0168-8278(24)01737-9. 2024
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Sivera R; (...); Sevilla T
Article. 10.1111/ene.15001. 2021
De novo Transcriptome Assembly and Comprehensive Annotation of Two Tree Tomato Cultivars (Solanum betaceum Cav.) with Different Fruit Color
Pacheco, J; (...); Gramazio, P
Article. 10.3390/horticulturae7110431. 2021
Deciphering the sex bias in housekeeping gene expression in adipose tissue: a comprehensive meta-analysis of transcriptomic studies.
Guaita-Cespedes M; (...); Garcia-Garcia F
Article. 10.1186/s13293-023-00506-x. 2023
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI; (...); Pérez-Dueñas B
Article. 10.1016/j.parkreldis.2020.09.023. 2020
Developmental Disruption of Erbb4 in Pet1 + Neurons Impairs Serotonergic Sub-System Connectivity and Memory Formation.
Barettino C; (...); Del Pino I
Article. 10.3389/fcell.2021.770458. 2021
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R; (...); Aller E
Article. 10.1212/NXG.0000000000200038. 2022
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
de Fuenmayor-Fernández de la Hoz CP; (...); Domínguez-González C
Article. 10.1007/s00415-023-12039-9. 2023
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation
Frasquet, M; (...); Lupo, V
Article. 10.1111/ene.14700. 2021
DRP2 mutations as a cause of Charcot Marie Tooth in Spain
Sivera, R; (...); Sevilla, T
Meeting Abstract. 2023
Expanding the beta-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
Sancho, P; (...); Aguilera-Albesa, S
Article. 10.3390/ijms22052505. 2021
Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease.
Sivera R; (...); Sevilla T
Article. 10.1212/WNL.0000000000209174. 2024
Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research.
Alvarez-Mora MI; (...); Rodriguez-Revenga L
Article. 10.3390/cells12192364. 2023
Functional Signatures in Non-Small-Cell Lung Cancer: A Systematic Review and Meta-Analysis of Sex-Based Differences in Transcriptomic Studies
Perez-Diez, I; (...); Garcia-Garcia, F
Review. 10.3390/cancers13010143. 2021
Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients
Machuca, C; (...); Espinos, C
Article. 10.1016/j.scr.2021.102338. 2021
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D; (...); Espinós C
Article. 10.3390/ijms242216400. 2023
Hepatic steatosis and steatohepatitis: a functional meta-analysis of sex-based differences in transcriptomic studies.
Català-Senent JF; (...); García-García F
Article. 10.1186/s13293-021-00368-1. 2021
HLA-A, -B, -C and -DRB1 Association with Autism Spectrum Disorder Risk: A Sex-Related Analysis in Italian ASD Children and Their Siblings.
Guerini FR; (...); Clerici M
Article. 10.3390/ijms25189879. 2024
Integrated transcriptomic landscape of the effect of anti-steatotic treatments in high-fat diet mouse models of non-alcoholic fatty liver disease
Fuster-Martínez, I; (...); Blas-García, A
Article. 10.1002/path.6242. 2024
Landscape of sex differences in obesity and type 2 diabetes in subcutaneous adipose tissue: a systematic review and meta-analysis of transcriptomics studies.
Moldovan RA; (...); García-García F
Article. 10.1016/j.metabol.2025.156241. 2025
Lipidomic landscape of circulating extracellular vesicles isolated from adolescents exposed to ethanol intoxication: a sex difference study.
Perpiñá-Clérigues C; (...); Pascual M
Article. 10.1186/s13293-023-00502-1. 2023
MetaFun: unveiling sex-based differences in multiple transcriptomic studies through comprehensive functional meta-analysis.
Malmierca-Merlo P; (...); Garcia-Garcia F
Article. 10.1186/s13293-024-00640-0. 2024
Metagenomics Reveals Sex-Based Differences in Murine Fecal Microbiota Profiles Induced by Chronic Alcohol Consumption
Domínguez-Pino, M; (...); Pascual, M
Article. 10.3390/ijms252312534. 2024
MicroRNAs as potential biomarkers for childhood epilepsy
Domenech, S; (...); Espinós, C
Meeting Abstract. 2024
Minimal hepatic encephalopathy is associated to alterations in eye movements
Casanova-Ferrer, F; (...); Montoliu, C
Article. 10.1038/s41598-022-21230-3. 2022
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)
Hinarejos, I; (...); Espinos, C
Review. 10.3390/antiox9101020. 2020
Mutations, genes and phenotypes related to movement disorders: a never-ending list
Martinez-Rubio, D; (...); Espinos, C
Meeting Abstract. 2022
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Martinez-Rubio, D; (...); Espinos, C
Article. 10.3390/ijms231911847. 2022
Novel insight into the lipid network of plasma extracellular vesicles reveal sex-based differences in the lipidomic profile of alcohol use disorder patients.
Perpiñá-Clérigues C; (...); Pascual M
Article. 10.1186/s13293-024-00584-5. 2024
NPC transplantation rescues sci-driven cAMP/EPAC2 alterations, leading to neuroprotection and microglial modulation
Martinez-Rojas, B; (...); Moreno-Manzano, V
Article. 10.1007/s00018-022-04494-w. 2022
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
Jesus, S; (...); Espinos, C
Editorial Material. 10.1212/NXG.0000000000000543. 2021
Opposite functional alterations between aged endometria and that of women with uterine disorders offer plausible explanations to the increased incidence of uterine disorders with age
Peiro, AD; (...); Diaz-Gimeno, P
Meeting Abstract. 2022
Overall Survival and Biomarker Analysis of Neoadjuvant Nivolumab Plus Chemotherapy in Operable Stage IIIA Non-Small-Cell Lung Cancer (NADIM phase II trial).
Provencio M; (...); Romero A
Article. 10.1200/JCO.21.02660. 2022
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig, H; (...); Sevilla, T
Article. 10.1002/acn3.51432. 2021
Plasmatic Membrane Expression of Adhesion Molecules in Human Cardiac Progenitor/Stem Cells Might Explain Their Superior Cell Engraftment after Cell Transplantation (vol 2020, 8872009, 2020)
Ontoria-Oviedo, I; (...); Sepulveda, P
Correction. 10.1155/2022/9786160. 2022
Plasmatic Membrane Expression of Adhesion Molecules in Human Cardiac Progenitor/Stem Cells Might Explain Their Superior Cell Engraftment after Cell Transplantation.
Ontoria-Oviedo I; (...); Sepúlveda P
Article. 10.1155/2020/8872009. 2020
Population-based sequencing of Mycobacterium tuberculosis reveals how current population dynamics are shaped by past epidemics
Cancino-Munoz, I; (...); Comas, I
Article. 10.7554/eLife.76605. 2022
Profile of plasma microRNAs as a potential biomarker of Wilson's disease.
Sánchez-Monteagudo A; (...); Espinós C
Article. 10.1007/s00535-024-02135-6. 2024
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3
Martinez-Rubio, D; (...); Espinos, C
Article. 10.1093/hmg/ddac146. 2022
Ptpn1 deletion protects oval cells against lipoapoptosis by favoring lipid droplet formation and dynamics
Barahona, I; (...); Valverde, AM
Article. 10.1038/s41418-022-01023-x. 2022
Ptpn1 deletion protects oval vells against lipoapotosis by favoring lipid droplet formation and dynamics
Valdecantos, P; (...); Valverde, AM
Meeting Abstract. 2022
Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response.
León M; (...); Torres J
Article. 10.1038/s41420-023-01531-w. 2023
RNA sequencing profiling in prefrontal brain cortex ofC9ALS/FTD
Alvarez, MI; (...); Rodriguez-Revenga, L
Meeting Abstract. 2022
SAM-UNETR: Clinically Significant Prostate Cancer Segmentation Using Transfer Learning From Large Model
Alzate-Grisales, JA; (...); de la Iglesia-Vayá, M
Article. 10.1109/ACCESS.2023.3326882. 2023
SARS-CoV-2-encoded small RNAs are able to repress the host expression of SERINC5 to facilitate viral replication.
Meseguer S; (...); Esplugues E
Article. 10.3389/fmicb.2023.1066493. 2023
Survival outcomes in ALK-positive NSCLC patients (p) treated 1st line brigatinib and impact of the ALK fusion variant
Provencio-Pulla, M; (...); Romero, A
Meeting Abstract. 10.1200/JCO.2023.41.16_suppl.e21015. 2023
The emerging role of mesenchymal stem cell-derived extracellular vesicles to ameliorate hippocampal NLRP3 inflammation induced by binge-like ethanol treatment in adolescence
Mellado, S; (...); Pascual, M
Article. 10.4103/NRR.NRR-D-23-01397. 2025
The impact of sex on gene expression in the brain of schizophrenic patients: a systematic review and meta-analysis of transcriptomic studies.
Carceller H; (...); García-García F
Article. 10.1186/s13293-024-00635-x. 2024
The role of microRNAs in understanding sex-based differences in Alzheimer's disease.
Llera-Oyola J; (...); García-García F
Article. 10.1186/s13293-024-00588-1. 2024
TLR4 Deficiency Affects the Microbiome and Reduces Intestinal Dysfunctions and Inflammation in Chronic Alcohol-Fed Mice
Cuesta, CM; (...); Guerri, C
Article. 10.3390/ijms222312830. 2021
Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response.
León C; (...); Martínez-Santamaría L
Article. 10.3390/genes12010047. 2020
Unravelling the pathomechanism caused by MORC2 mutations in a neural model of CMT2Z disease
Sancho, P; (...); Espinos, C
Meeting Abstract. 2020
Unveiling Common Transcriptomic Features between Melanoma Brain Metastases and Neurodegenerative Diseases.
Soler-Sáez I; (...); García-García F
Article. 10.1016/j.jid.2024.09.005. 2024
Unveiling sex-based differences in Parkinson's disease: a comprehensive meta-analysis of transcriptomic studies.
López-Cerdán A; (...); García-García F
Article. 10.1186/s13293-022-00477-5. 2022
Unveiling Sex-Based Differences in the Effects of Alcohol Abuse: A Comprehensive Functional Meta-Analysis of Transcriptomic Studies.
Casanova Ferrer F; (...); García-García F
Article. 10.3390/genes11091106. 2020
Vascular differences between IDH-wildtype glioblastoma and astrocytoma IDH-mutant grade 4 at imaging and transcriptomic levels.
Álvarez-Torres MDM; (...); García-Gómez JM
Article. 10.1002/nbm.5004. 2023
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity
Garcia-Villarreal, L; (...); Tugores, A
Article. 10.1007/s00535-020-01745-0. 2021
Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.
Sánchez-Monteagudo A; (...); Espinós C
Article. 10.3390/biomedicines9091100. 2021