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Showing 1 to 12 of 401 entries
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Cochlear Homocysteine Metabolism at the Crossroad of Nutrition and Sensorineural Hearing Loss.

Frontiers in molecular neuroscience

Partearroyo T, Vallecillo N, Pajares MA, Varela-Moreiras G, Varela-Nieto I.
PMID: 28487633
Front Mol Neurosci. 2017 Apr 25;10:107. doi: 10.3389/fnmol.2017.00107. eCollection 2017.

Hearing loss (HL) is one of the most common causes of disability, affecting 360 million people according to the World Health Organization (WHO). HL is most frequently of sensorineural origin, being caused by the irreversible loss of hair cells...

Chronic myeloid leukaemia in Spain: Its presentation characteristics have changed. Spanish section of the EUTOS population-based registry.

Revista clinica espanola

Osorio S, Casado LF, Giraldo P, Maestro B, Andrade M, Redondo S, García-Gutiérrez V, Ayala R, Garcia N, Steegmann JL.
PMID: 27061504
Rev Clin Esp (Barc). 2016 Aug-Sep;216(6):293-300. doi: 10.1016/j.rce.2016.03.001. Epub 2016 Apr 06.

OBJECTIVES: To provide more reliable data on the epidemiology of chronic myeloid leukaemia (CML) in Spain than are currently available.MATERIAL AND METHODS: The EUTOS population-based project of European LeukemiaNet is a population registry of new CML cases in patients...

Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA, Ribasés M.
PMID: 26174753
Am J Med Genet B Neuropsychiatr Genet. 2015 Sep;168(6):480-491. doi: 10.1002/ajmg.b.32340. Epub 2015 Jul 14.

We performed a case-control association study in persistent ADHD considering eight candidate genes (DRD4, DAT1/SLC6A3, COMT, ADRA2A, CES1, CYP2D6, LPHN3, and OPRM1) and found additional evidence for the involvement of the Dup 120bp and VNTR 48bp functional variants within...

Biochemical Assessment of Coenzyme Q.

Journal of clinical medicine

Rodríguez-Aguilera JC, Cortés AB, Fernández-Ayala DJ, Navas P.
PMID: 28273876
J Clin Med. 2017 Mar 05;6(3). doi: 10.3390/jcm6030027.

Coenzyme Q

Common and rare variants of microRNA genes in autism spectrum disorders.

The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry

Toma C, Torrico B, Hervás A, Salgado M, Rueda I, Valdés-Mas R, Buitelaar JK, Rommelse N, Franke B, Freitag C, Reif A, Pérez-Jurado LA, Battaglia A, Mazzone L, Bacchelli E, Puente XS, Cormand B.
PMID: 25903372
World J Biol Psychiatry. 2015 Sep;16(6):376-386. doi: 10.3109/15622975.2015.1029518. Epub 2015 Apr 23.

OBJECTIVES: MicroRNAs (miRNAs) are post-transcriptional regulators that have been shown to be involved in disease susceptibility. Here we explore the possible contribution of common and rare variants in miRNA genes in autism spectrum disorders (ASD).METHODS: A total of 350...

Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.

JIMD reports

Ruiz-Andrés C, Sellés E, Arias A, Gort L.
PMID: 28220406
JIMD Rep. 2017;37:7-12. doi: 10.1007/8904_2017_6. Epub 2017 Feb 21.

Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some...

Cancer abolishes the tissue type-specific differences in the phenotype of energetic metabolism.

Translational oncology

Acebo P, Giner D, Calvo P, Blanco-Rivero A, Ortega AD, Fernández PL, Roncador G, Fernández-Malavé E, Chamorro M, Cuezva JM.
PMID: 19701498
Transl Oncol. 2009 Aug 18;2(3):138-45. doi: 10.1593/tlo.09106.

Nowadays, cellular bioenergetics has become a central issue of investigation in cancer biology. Recently, the metabolic activity of the cancer cell has been shown to correlate with a proteomic index that informs of the relative mitochondrial activity of the...

The Splicing Factor SRSF1 as a Marker for Endothelial Senescence.

Frontiers in physiology

Blanco FJ, Bernabéu C.
PMID: 22470345
Front Physiol. 2012 Mar 28;3:54. doi: 10.3389/fphys.2012.00054. eCollection 2012.

Aging is the major risk factor per se for the development of cardiovascular diseases. The senescence of the endothelial cells (ECs) that line the lumen of blood vessels is the cellular basis for these age-dependent vascular pathologies, including atherosclerosis...

Toxicogenetics of lopinavir/ritonavir in HIV-infected European patients.

Personalized medicine

Aspiroz EL, Cabrera Figueroa SE, Cruz R, Porras Hurtado GL, Martín AF, Hurlé AD, Carracedo A, Team TT.
PMID: 29764065
Per Med. 2014 May;11(3):263-272. doi: 10.2217/pme.14.7.

AIMS: We present a genetic association study in 106 European HIV-infected individuals aimed at identifying and confirming polymorphisms that have a significant influence on toxicity derived from treatment with lopinavir/ritonavir (LPV/r).PATIENTS & METHODS: Genotyping was performed by matrix-assisted laser...

Long-Term Dietary Folate Deficiency Accelerates Progressive Hearing Loss on CBA/Ca Mice.

Frontiers in aging neuroscience

Martínez-Vega R, Murillo-Cuesta S, Partearroyo T, Varela-Moreiras G, Varela-Nieto I, Pajares MA.
PMID: 27630560
Front Aging Neurosci. 2016 Aug 31;8:209. doi: 10.3389/fnagi.2016.00209. eCollection 2016.

Dietary folic acid deficiency induced early hearing loss in C57BL/6J mice after 2-months, corroborates the epidemiological association previously described between vitamin deficiency and this sensory impairment. However, this strain is prone to early hearing loss, and hence we decided...

Functional Analyses of a Novel Splice Variant in the .

Frontiers in genetics

Villate O, Ibarluzea N, Fraile-Bethencourt E, Valenzuela A, Velasco EA, Grozeva D, Raymond FL, Botella MP, Tejada MI.
PMID: 29434620
Front Genet. 2018 Jan 26;9:7. doi: 10.3389/fgene.2018.00007. eCollection 2018.

Mutations in

Setting Eyes on the Retinal Pigment Epithelium.

Frontiers in cell and developmental biology

Moreno-Marmol T, Cavodeassi F, Bovolenta P.
PMID: 30406103
Front Cell Dev Biol. 2018 Oct 24;6:145. doi: 10.3389/fcell.2018.00145. eCollection 2018.

The neural component of the zebrafish eye derives from a small group of cells known as the eye/retinal field. These cells, positioned in the anterior neural plate, rearrange extensively and generate the optic vesicles (OVs). Each vesicle subsequently folds...

Showing 1 to 12 of 401 entries