Results 51 to 60 of about 56,592 (210)

Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson’s disease

open access: yesScientific Reports, 2021
Parkinson’s disease (PD) is characterized by cerebral dopamine depletion that causes motor and cognitive deficits. The dopamine-related gene ANKK1 has been associated with neuropsychiatric disorders with a dopaminergic deficiency in the striatum.
Estela Pérez-Santamarina   +8 more
doaj   +1 more source

Network perspective of histamine related diseases [PDF]

open access: yes, 2017
Histamine is the most pleiotropic biogenic amine. Produced and stored by a limited set of cells—histaminergic neurons, enterochromaffin-like cells, and mast cells—it broadcasts intercellular communication signals to a wide variety of cell types through ...
Medina, Miguel Ángel   +3 more
core  

The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains

open access: yesBrain Pathology, EarlyView.
A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña   +20 more
wiley   +1 more source

Los registros de enfermedades en la investigación epidemiológica de las enfermedades raras en España

open access: yesRevista Española de Salud Pública, 2006
Fundamento: En el caso de las enfermedades raras existen dificultades para utilizar herramientas como los registros de enfermedades. El objetivo de este trabajo es describir la situación de los registros sobre enfermedades raras en España.
Óscar Zurriaga Lloréns   +10 more
doaj  

Suicide gene therapy targeting ewing sarcoma via an ewing-specific GGAA promoter

open access: yesScientific Reports
We recently demonstrated that GGAA promoters (GGAAprom) can be used to drive the expression of therapeutic genes (i.e., Cas9) in vitro and in vivo in a highly specific way in Ewing sarcoma cells.
Saint T. Cervera   +4 more
doaj   +1 more source

Chitin-challenged Mice Model to Study M2 Macrophages Polarization

open access: yesBio-Protocol, 2015
Chitin is a key component of insects, fungi, and house-dust mites. Chitin has been shown to induce M2-type immune responses in vivo. Intranasal or intraperitoneal (i.p.) administration of chitin particles results in infiltration of eosinophils to the ...
Lidia Jiménez-García   +3 more
doaj   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

open access: yesBrain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira   +19 more
wiley   +1 more source

Internacionalización, formación y análisis de la realidad. Tres conceptos esenciales en el desarrollo de acciones positivas por parte de FEDER (Federación Española de Enfermedades Raras)

open access: yesRevista Española de Discapacidad, 2013
Bañón Hernández, A.M. y Fornieles Alcaraz, J. (2013): “Internacionalización, formación y análisis de la realidad. Tres conceptos esenciales en el desarrollo de acciones positivas por parte de FEDER (Federación Española de Enfermedades Raras)”.
Antonio M. Bañón Hernández   +1 more
doaj  

Congenital heart defects in the Valencian Region 2007–2014: The population-based registry of congenital anomalies

open access: yesAnales de Pediatría (English Edition), 2020
Introduction: Congenital heart defects (CHDs) are the most prevalent and severe type of major congenital anomalies (CAs). The objective of this study was to determine the frequency and distribution of CHDs in the Valencian Region from 2007 to 2014 ...
María Pastor-García   +4 more
doaj   +1 more source

Evaluation of the anti-angiogenic potential of hydroxytyrosol derivatives [PDF]

open access: yes, 2018
Angiogenesis, a process which allows the formation of new vessels from pre-existing ones, is an essential phenomenon for tumor survival since it allows cancer cells to obtain nutrients and oxygen.
Carrillo Fernández, Paloma   +7 more
core  

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