TY  - JOUR
AU  - Muiño, Elena
AU  - Maisterra, Olga
AU  - Jiménez-Balado, Joan
AU  - Cullell, Natalia
AU  - Carrera, Caty
AU  - Torres-Aguila, Nuria P.
AU  - Cárcel-Márquez, Jara
AU  - Gallego-Fabrega, Cristina
AU  - Lledós, Miquel
AU  - González-Sánchez, Jonathan
AU  - Olmos-Alpiste, Ferran
AU  - Espejo, Eva
AU  - March, Álvaro
AU  - Pujol, Ramón
AU  - Rodríguez-Campello, Ana
AU  - Romeral, Gemma
AU  - Krupinski, Jurek
AU  - Martí-Fàbregas, Joan
AU  - Montaner, Joan
AU  - Roquer, Jaume
AU  - Fernández-Cadenas, Israel
PY  - 2021
DO  - 10.1038/s41598-021-86349-1
UR  - http://hdl.handle.net/10668/4564
T2  - Scientific Reports
AB  - 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...
LA  - en
PB  - Nature Publishing Group
KW  - CADASIL
KW  - Gene ontology
KW  - Executive function
KW  - Transcriptome
KW  - mRNA
KW  - Endothelial cells
KW  - Attention
KW  - Mutation
KW  - In situ hybridization
KW  - Polymerase chain reaction
KW  - E2F4 transcription factor
KW  - Genome-wide association study
KW  - Ontología de genes
KW  - Función ejecutiva
KW  - Transcriptoma
KW  - ARN mensajero
KW  - Células endoteliales
KW  - Atención
KW  - Mutación
KW  - Hibridación in situ
KW  - Reacción en cadena de la polimerasa
KW  - Factor de transcripción E2F4
KW  - Estudio de asociación del genoma completo
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques::Cytodiagnosis::Biopsy
KW  - Medical Subject Headings::Diseases::Cardiovascular Diseases::Vascular Diseases::Cerebrovascular Disorders::Cerebral Small Vessel Diseases::CADASIL
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Transcription Factors::E2F Transcription Factors::E2F4 Transcription Factor
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies::Genome-Wide Association Study
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult::Middle Aged
KW  - Medical Subject Headings::Anatomy::Integumentary System::Skin
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome, Human
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::Transcription, Genetic::Transcriptome
KW  - Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetic Research::Gene Ontology
KW  - Medical Subject Headings::Psychiatry and Psychology::Psychological Phenomena and Processes::Mental Processes::Executive Function
KW  - Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Messenger
KW  - Medical Subject Headings::Anatomy::Cells::Epithelial Cells::Endothelial Cells
KW  - Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell Adhesion
KW  - Medical Subject Headings::Anatomy::Musculoskeletal System::Muscles::Muscle, Smooth::Muscle, Smooth, Vascular
KW  - Medical Subject Headings::Anatomy::Nervous System::Central Nervous System::Brain
KW  - Medical Subject Headings::Psychiatry and Psychology::Psychological Phenomena and Processes::Psychophysiology::Arousal::Attention
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques::Histocytological Preparation Techniques::Staining and...
KW  - Medical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Headache Disorders::Headache Disorders, Primary::Migraine Disorders
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction
KW  - Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Receptor Aggregation
TI  - Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
TY  - research article
ER  -