Publications of the UETeM on lipodystrophies

Articles

1. Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jimenez R, Victoria B, Requena JR, Loidi L, Beiras A, Rabano A , González-Méndez B, Ramos A, Mosquera-Orgeira A, Araújo-Vilar D. A new neurodegenerative syndrome associated with exon 7 skipping in the BSCL2 gene. Nature Genetics 2012 (submmited)

2. Michela Ortolani, Sabino Prencipe, Alessandra Gambineri, Renato Pasquali, Berta Victoria, Marta Columbaro, Stefano Squarzoni, David Araújo-Vilar , Giovanna Lattanzi.  A TGFbeta 2 dependent pathway in FPLD2. Human Molecular Genetics. (submmited, 2012).

3. Araujo-Vilar D, Victoria B, Gonzalez-Mendez B, Barreiro F, Fernandez-Rodriguez B, Cereijo R, Gallego-Escuredo J, Villarroya F, Pañeda-Menendez A. Histological and molecular features of lipomatous and non lipomatous adipose tissue from subjects with familial partial lipodystrophy due to LMNA mutations. Clinical Endocrinol 2011 Aug 23. doi: 10.1111/j.1365-2265.2011.04208.x.

4. Araujo-Vilar D. Lipodistrofia Congénita Generalizada versus Síndrome de Berardinelli-Seip. Anales de Pediatria (Barc.) 2011 Jun;74(6):423-424 IF: 0.363

5. Diego Peteiro-Gonzalez, Beatriz Fernandez-Rodriguez, Jose M Cabezas-Agrícola, David Araujo-Vilar. Severe localized lipoatrophy related to therapy with insulin analogs in type 1a diabetes mellitus. Diabetes Res Clin Pract 2011 Mar;91(3):e61-3.

6. Berta Victoria, Marta Cuervo, José Manuel Cabezas-Agrícola, Blanca González-Méndez, Giovanna Lattanzi, Rosalba Del Coco, Lourdes Loidi, Francisco Barreiro, Carlos Calvo, David Araújo-Vilar. Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. Diabetic Medicine 2010, 27: 1178–1187.

7. Joaquin Lado-Abeal, Rosa-Maria Calvo, Berta Victoria, Isabel Castro, Maria Jesus Obregon, David Araujo-Vilar. Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. Thyroid. 2010 Apr;20(4):419-24

8. Araújo-Vilar D, Giovanna Lattanzi, Blanca González-Méndez, Ana Teresa Costa-Freitas, Daniel Prieto, Marta Columbaro, Elisabetta Mattioli, Berta Victoria, Noelia Martínez-Sánchez, Alia Ramazanova, Máximo Fraga, Andrés Beiras, Jerónimo Forteza, Lourdes Domínguez-Gerpe, Carlos Calvo, Joaquin Lado-Abeal. Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. J Medical Genetics 2009, 46: 40-8.

9. Domínguez-Gerpe L, Araújo-Vilar D. Prematurely Aged Children: Molecular Alterations Leading to Hutchinson-Gilford Progeria and Werner Syndromes. Current Aging Science 2008; 1:202-212.

10. Araújo-Vilar D, Joaquin Lado-Abeal, Fernando Palos-Paz, Giovanna Lattanzi, Manuel Angel Bandín, Diego Bellido, Lourdes Domínguez-Gerpe, Carlos Calvo, Oscar Pérez, Alia Ramazanova, Noelia Martínez-Sánchez, Berta Victoria, Costa Freitas AT. A new clinical condition associated with a novel mutation in LMNA gene, characterized by partial lipodystrophy, insulin-resistance, aortic stenosis and hypertrophic miocardiopathy. Clinical Endocrinology 2008 Jul;69(1):61-8.

11. Araujo-Vilar D, Loidi L, Dominguez F, Cabezas-Cerrato J. Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. Horm Metab Res. 2003 Jan;35(1):29-35.

12. Araújo-Vilar D. Lipodistrofias: bases moleculares y características clínicas. Endocrinología y Nutrición. 2003, 50: 133-44
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