Výsledky vyhledávání - "Sandra Pampín"

Akademický článek

Application of Classification Algorithms to Diffuse Reflectance Spectroscopy Measurements for Ex Vivo Characterization of Biological Tissues

Autor: Félix Fanjul-Vélez, Sandra Pampín-Suárez, José Luis Arce-Diego

Publikováno v: Entropy, Vol 22, Iss 7, p 736 (2020)

Biological tissue identification in real clinical scenarios is a relevant and unsolved medical problem, particularly in the operating room. Although it could be thought that healthy tissue identification is an immediate task, in practice there are se

Externí odkaz: https://doaj.org/article/577efde745db4987a0e63344ba78a668

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Análisis funcional de mutaciones en el promotor del LDLR y su relación con la hipercolesterolemia familiar

Autor: Esperanza Martorell, Lourdes Palacios, Miguel Pocovi, José C. Rodríguez-Rey, José Puzo, Aguirre de Cubas, Núria Plana, Isabel De Castro-Orós, Sandra Pampín, Fernando Civeira, Luis Masana, Marianne Stef, Alfonso Bolado-Carrancio

Publikováno v: Clínica e Investigación en Arteriosclerosis. 23:119-124

Resumen Introduccion La hipercolesterolemia familiar (HF) es una enfermedad autosomica dominante, causada principalmente por mutaciones en la region codificante del gen del receptor de las LDL (LDLR). Sin embargo, varias mutaciones situadas en el pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eb92658aa99e886ee4f4536691b3d3e9
https://doi.org/10.1016/j.arteri.2011.04.001

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Promoter variant −204A > C of the cholesterol 7α-hydroxylase gene: Association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells

Autor: Miguel Pocovi, Xavier Pintó, Jordi Salas-Salvadó, Emilio Ros, Montserrat Cofán, Isabel De Castro-Orós, José C. Rodríguez-Rey, Sandra Pampín, P. Mozas, Fernando Civeira

Publikováno v: Clinical Nutrition. 30:239-246

Summary Background & aims The bile acid pool influences intestinal cholesterol absorption because this process is strictly dependent on micellar solubilization, which is disrupted by plant sterols (PS). Plasma lipid variation relates to promoter vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63db3b0d34bbdcc1d9b1ee4ff2cb78b7
https://doi.org/10.1016/j.clnu.2010.07.020

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Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease

Autor: Miguel Pocovi, José C. Rodríguez-Rey, Carmen Domínguez, Pilar Giraldo, Beatriz Garcia-Rodriguez, Teresa Tejedor, Sandra Pampín, Pilar Alfonso

Publikováno v: Clinica Chimica Acta. 412:365-369

Background Gaucher disease (GD) is a rare autosomal recessive disorder caused mainly by mutations in the glucocerebrosidase (GBA) gene. Great phenotypic variability has been observed among patients with the same genotype, suggesting other factors, su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ec763c0b211e50afd2fd77b3af4b92
https://doi.org/10.1016/j.cca.2010.11.013

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An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia

Autor: Fernando Civeira, Sandra Pampín, Montserrat Cofán, José C. Rodríguez-Rey, B. Martin, A. L. García-Otín, M. Pocoví, María Solanas-Barca, Emilio Ros

Publikováno v: Nutrition, Metabolism and Cardiovascular Diseases. 20:236-242

Background and aims A substantial number of subjects with autosomal dominant hypercholesterolemia (ADH) do not have LDL receptor (LDLR) or apolipoprotein B (APOB) mutations. Some ADH subjects appear to hyperabsorb sterols from the intestine, thus we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e212c24a85163d27f840236b56a4ee0
https://doi.org/10.1016/j.numecd.2009.03.023

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El polimorfismo −1131 T>C del promotor del gen de la apolipoproteína A5 altera la unión de NRF2 (nuclear respiratory factor-2) y disminuye la actividad del promotor

Autor: Sandra Pampín, José C. Rodríguez-Rey, Bibiana Garcia-Bailo, Jose M. Ordovas

Publikováno v: Clínica e Investigación en Arteriosclerosis. 21:115-120

Introduccion: El papel que desempenan los trigliceridos (TG) ingeridos en la dieta en la aparicion de aterosclerosis es controvertido. Sin embargo, recientemente se ha descrito que los valores de TG en estado posprandial son un factor de riesgo indep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a1e96edca3e6b05de2e573ab30ee4061
https://doi.org/10.1016/s0214-9168(09)71129-5

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Estudio funcional del promotor del gen NPC1L1

Autor: Fernando Civeira, Miguel Pocovi, María Solanas, Beatriz Martín, Sandra Pampín, José-Carlos Rodríguez-Rey

Publikováno v: Clínica e Investigación en Arteriosclerosis. 20:183-189

Introduccion En la absorcion intestinal de colesterol intervienen distintos transportadores, uno de gran importancia y diana del farmaco ezetimiba, la proteina NPC1L1. Se ha demostrado una asociacion entre distintas variantes geneticas de NPC1L1, la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5cbcc6be4324d7195394a76fda1f0a2b
https://doi.org/10.1016/s0214-9168(08)75905-9

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The g.763G>C SNP of the bovineFASNgene affects its promoter activity via Sp-mediated regulation: implications for the bovine lactating mammary gland

Autor: José C. Rodríguez-Rey, Laura Ordovás, R. Roy, Sandra Pampín, Clementina Rodellar, Pilar Zaragoza, Rosario Osta

Publikováno v: Physiological Genomics. 34:144-148

Fatty acid synthase (FASN) is an enzyme that catalyzes de novo synthesis of fatty acids in cells. The bovine FASN gene maps to BTA 19, where several quantitative trait loci for fat-related traits have been described. Our group recently reported the i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aae7b726a221f96054baa091eb9ad0a7
https://doi.org/10.1152/physiolgenomics.00043.2008

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TGF-β-induced apoptosis in human thyrocytes is mediated by p27kip1 reduction and is overridden in neoplastic thyrocytes by NF-κB activation

Autor: José Cameselle-Teijeiro, Francisco Xabier Varela Barreiro, Sandra Pampín, Carmen Carneiro, Susana B. Bravo, Fernando Domínguez, Clara V. Alvarez

Publikováno v: Oncogene. 22:7819-7830

Millions of people worldwide suffer goiter, a proliferative disease of the follicular cells of the thyroid that may become neoplastic. Thyroid neoplasms have low proliferative index, low apoptotic index and a high incidence of metastasis. TGF-beta is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b9de3ca3316636741050fbc9d86d60e
https://doi.org/10.1038/sj.onc.1207029

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Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

Autor: Isabel De Castro-Orós, Marianne Stef, José Puzo, Aguirre de Cubas, Sandra Pampín, Núria Plana, José C. Rodríguez-Rey, Miguel Pocovi, Esperanza Martorell, Lourdes Palacios, Alfonso Bolado-Carrancio, Fernando Civeira, Luis Masana

Publikováno v: Human mutation. 32(8)

Familial hypercholesterolemia (FH) is a dominant disorder due to mutations in the LDLR gene. Several mutations in the LDLR promoter are associated with FH. Screening of 3,705 Spanish FH patients identified 10 variants in the promoter and 5' UTR. Here

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b9fa482e8f3de5ad85cb6daa50744ea
https://pubmed.ncbi.nlm.nih.gov/21538688

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