Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment

Autor: Israel Fernandez-Cadenas, Miquel Lledós, Ramon M. Pujol, Natalia Cullell, Jara Cárcel-Márquez, Olga Maisterra, Elena Muiño, Joan Jiménez-Balado, Cristina Gallego-Fabrega, Joan Montaner, Gemma Romeral, Jurek Krupinski, Ferran Olmos-Alpiste, Ana Rodríguez-Campello, Álvaro March, Eva Espejo, Jonathan González-Sánchez, Jaume Roquer, Caty Carrera, Nuria P. Torres-Aguila, Joan Martí-Fàbregas

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Scientific Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Scientia

CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent str

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a3e9194ea4828eea17560c3a511929
https://ddd.uab.cat/record/255382

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer

Autor: Pedro Seoane-Zonjic, Álvaro Parés-Aguilar, Belén Pérez, Elena Rojano, Fernando M. Jabato, Mercedes Serrano, James R. Perkins, José Córdoba-Caballero, Juan A. G. Ranea, D. Gallego

Publikováno v: Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 730, p 730 (2021)
Volume 11
Issue 8
Digital.CSIC. Repositorio Institucional del CSIC
instname

Exhaustive and comprehensive analysis of pathological traits is essential to understanding genetic diseases, performing precise diagnosis and prescribing personalized treatments. It is particularly important for disease cohorts, as thoroughly detaile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ffbbbce95caec6494d2175915ec85e8
https://doi.org/10.3390/jpm11080730

'The Clever machine'- a computational tool for dataset exploration and prediction

Autor: Klus, Petr, 1985

Publikováno v: TDX (Tesis Doctorals en Xarxa)
TDR. Tesis Doctorales en Red
instname

The purpose of my doctoral studies was to develop an algorithm for large-scale analysis of protein sets. This thesis outlines the methodology and technical work performed as well as relevant biological cases involved in creation of the core algorithm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2bf24d769e075c7be59d108cfc4c232c
http://hdl.handle.net/10803/482051