Výsledky vyhledávání - "Pablo, Perez de la Ossa"

A Conditional Model Reveals That Induction of Hepatocyte Nuclear Factor-1α inHnf1α-Null Mutant β-Cells Can Activate Silenced Genes Postnatally, Whereas Overexpression Is Deleterious

Autor: Miguel A. Maestro, William M. Philbrick, Pablo Perez de la Ossa, Reini F. Luco, Jorge Ferrer, Natalia del Pozo

Publikováno v: Diabetes. 55:2202-2211

Humans with heterozygous loss-of-function mutations in the hepatocyte nuclear factor-1alpha (HNF1alpha) gene develop beta-cell-deficient diabetes (maturity-onset diabetes of the young type 3), indicating that HNF1alpha gene dosage is critical in beta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7df49b2a39c93ce4f18c61cd82778e57
https://doi.org/10.2337/db05-1534

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Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain

Autor: Núria, Noel, Jonathan M, Flanagan, John, Flanagan, Maria Jose, Ramirez Bajo, Susana G, Kalko, María del Mar, Mañú, José Luis, Garcia Fuster, Pablo, Perez de la Ossa, Josep, Carreras, Ernest, Beutler, Joan-Lluís, Vives Corrons

Publikováno v: British Journal of Haematology. :051220022257015

We report two previously undescribed mutations of the phosphoglycerate kinase gene (PGK1) leading to enzyme deficiency. In both cases, the patients were of Spanish origin and they exhibited a severe life-long chronic haemolytic anaemia associated wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f527024e6f59c7b800641ecb7c8a91bf
https://doi.org/10.1111/j.1365-2141.2005.05882.x

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