Endocrinología, Metabolismo, Nutrición y Enfermedades Renales » Investigación en Genética y Control de Diabetes y Enfermedades Endocrinas
Coordinador de Grupo
Luis Antonio Castaño González
Director Cientifico IIS Biocruces Bizkaia
Doctor en Medicina
Profesor titular Unidad Docente Facultad de Medicina y Enfermería de la UPV/EHU, Dpto. Pediatría
OSI Eskerraldea Enkarterri Cruces
Miembros del Grupo
Anibal Aguayo Calcena
María Victoria Aparicio Prieto
Patricia Aspichueta Celaa
Igor Aurrekoetxea Galindo
Xabier Buque Garcia
Beatriz Corcostegui Ormazabal
Alicia Cortazar Galarza
Concepción Fernández Ramos
Arturo Galbarriatu Gutierrez
Maria Sonia Gaztambide Saenz
Pedro González Fernández
Gema Grau Bolado
Paloma Jimenez Huertas
Miren Edurne Larrinaga Ugalde
Alicia Martin Nieto
Rosa María Martínez Salazar
Idoia Martínez de La Piscina Martín
José Luis Maza Cano
Daniela Mestre Congregado
Nancy Elizabeth Portillo Najera
Itxaso Rica Etxebarria
Maria Concepción Rivero Martinez
Amaia Rodriguez Estevez
Jesus Pablo Saez de la Fuente Chivite
Izortze Santin Gomez
Javier Santamaria Sandi
Ana Sanz Pereda
Inés Urrutia Echevarria
Amaia Vela Desojo
Olaia Velasco Vielba
Ana Villalba Cabrera
Líneas de Investigación
Inmunogenética de diabetes tipo 1y otros trastornos autoinmunes asociados.
Diagnóstico precoz y marcadores de diabetes tipo 1
Terapia celular en diabetes.
Alteraciones moleculares en el desarrollo y en la función del páncreas endocrino.
Trastornos genéticos en las enfermedades endocrinas raras.
Alteraciones en el metabolismo fosfocálcico.
Metabolismo del espermatozoide.
Ovario y Actividad Hormonal.
Glándulas Sexuales y actividad metabólica (futura línea de investigación).
Metabolismo fosfo-cálcico (futura línea de investigación).
Estudio genético de muestras de niños con enfermedad de Hirschsprung y de sus familiares. Búsqueda de mutaciones y polimorfismos asociados a la enfermedad para intentar establecer un modelo genético.
Análisis de la secuencia del protooncogén RET en pacientes con enfermedades afectadas en este gen, como la enfermedad de Hirschsprung, el carcinoma medular de tiroides esporádico y la neoplasia endocrina múltiple tipo 2 (MEN2).
Nuevos mecanismos implicados en la progresión de la enfermedad hepática de origen metabólico: de hepatoesteatosis a hepatocarcinoma
Actividades del Grupo

El Grupo de Investigación en Genética de Diabetes y Enfermedades Endocrinas es un grupo clinico experimental, con una amplia actividad traslacional al paciente. A nivel nacional está integrado en el Ciber de Diabetes y enfermedades metabólicas asociadas (CIBERDEM) y el Ciber de Enfermedades raras (CIBERER) del ISCIII. A nivel internacional, el Grupo participa en diferentes redes de investigación, como el European Type 1 Diabetes Genetic Network (ET1DGN), el Hvidore Study Group for Childhood Diabetes, etc.

Las actividades científicas del Grupo están relacionadas con el estudio de los mecanismos genéticos implicados en el desarrollo de las enfermedades endocrinas y metabólicas (diabetes), así como en la prevención y en el desarrollo de nuevas estrategias terapéuticas (inmunomodulación y/o terapia celular) para mejorar el control de las mismas. En este sentido,  estudia los determinantes genéticos de susceptibilidad de la diabetes autoinmune y los marcadores inmunológicos de diagnóstico precoz. Asimismo, en el ámbito de la prevención está participando en ensayos clínicos internacionales encaminados a la inducción de tolerancia inmune con autoantígenos frente a la diabetes tipo 1, como el estudio TRIGR (Trial to prevent IDDM in genetically at risk children), o estudio Diamyd (anti-GAD), etc. Con respecto a nuevas estrategias terapéuticas, su actividad se centra en el análisis de diferentes aspectos de terapia celular centrada en el trasplante de islote y en la diferenciación de las células beta pancreáticas. Por otra parte, el grupo trabaja en los trastornos moleculares de las alteraciones del metabolismo calcio fósforo y de otras enfermedades endocrinas raras.

Estudio del metabolismo peptídico en diversas fracciones del semen humano con especial atención al espermatozoide, en diversas situaciones fisiológicas y/o patológicas.

 

La enfermedad de Hirschsprung (HSCR) o aganglionosis intestinal es una enfermedad congénita caracterizada por la ausencia de neuronas en el tracto digestivo, lo que impide la motilidad intestinal causando obstrucción. Aparece en 1 de cada 5000 recién nacidos, siendo aproximadamente 4 veces más frecuente en varones que en mujeres. El tratamiento hasta el día de hoy consiste en la resección de la región aganglionar del intestino del enfermo y la unión de las zonas sanas para evitar la muerte del paciente. Este tratamiento aunque efectivo, afecta considerablemente a la calidad de vida del paciente desde su nacimiento. En las últimas décadas, el desarrollo de nuevas técnicas quirúrgicas ha disminuido la mortalidad y morbilidad de los niños enfermos, lo que ha permitido el comienzo del estudio genético de esta patología, tanto a nivel individual como familiar.

La enfermedad se considera una neurocristopatía, un defecto en la migración de las células de la cresta neural. El defecto tiene lugar entre las semanas de gestación 5 y 12, durante la formación del sistema nervioso entérico (SNE). Los niños afectados suelen presentar síntomas en los primeros dos meses de vida, aunque se pueden dar casos en los que la detección no sea hasta la niñez o incluso en adultos. Los enfermos de HSCR pueden desarrollar además otras afecciones como la enterocolitis y/o potencial perforación intestinal si no se opera a tiempo.

El protooncogén RET (REarranged during Transfection, Figura 1) se expresa en los precursores neuronales entéricos durante la colonización del tracto intestinal en el desarrollo embrionario. Este gen es miembro de la superfamilia de las cadherinas y codifica un receptor tirosina quinasa. Estos receptores son moléculas de la superficie celular que trasducen señales implicadas en el crecimiento y diferenciación celular.

Mutaciones y polimorfismos en la secuencia de este gen pueden alterar tanto su expresión como su función, lo que podría ser la causa de la enfermedad. Además de en HSCR, este gen está también involucrado en otras enfermedades de tipo endocrino, como la neoplasia endocrina múltiple tipo 2 (MEN2) y el carcinoma medular de tiroides. La presencia de SNPs podría determinar el desarrollo de la enfermedad y sus diferentes combinaciones (haplotipos) podrían causar predisposición genética a padecer HSCR. Esto hace que el estudio genético en los enfermos sea imprescindible para poder establecer un patrón hereditario y describir los cambios genéticos de RET.

Actualmente, las estrategias terapéuticas para las neurocristopatías entéricas se reducen a la cirugía y provisión de nutrición artificial. Los datos evidencian la necesidad de desarrollar nuevas terapias para este tipo de patología. En la última década los enormes avances en Biología Molecular y Genética han aumentado significativamente nuestro conocimiento acerca del desarrollo y funcionamiento del SNE. Estas técnicas, combinadas con los progresos en los campos de la farmacología y la biología con células madre, han permitido la identificación de nuevas herramientas y dianas terapéuticas. Con estas estrategias se podrían reemplazar componentes defectuosos del SNE, ayudando a la recuperación del tejido dañado y mejorando la calidad de vida del enfermo.

Publicaciones Científicas

Blarduni E, Arrospide A, Galar M, Castaño L, Mar J, Grupo GOIVIDE. [Factors associated with the prevalence of hypovitaminosis D in pregnant women and their newborns]. Anales De Pediatria (barcelona, Spain 2003). 2018. DOI: 10.1016/j.anpedi.2018.11.012.

Nunez-Garcia, M, Gomez-Santos, B, de Urturi, DS, Mestre, D, Gonzalez-Romero, F, Buque, X, Gutierrez-de Juan, V, Martinez-Chantar, ML, Syn, WK, Fresnedo, O, Aspichueta, P. Atorvastatin provides a new lipidome improving early regeneration after partial hepatectomy in osteopontin deficient mice. Sci Rep. 2018; 8: 14626. FI: 4,122(Q1). DOI: 10.1038/s41598-018-32919-9.

Bellido V, Larrañaga I, Vazquez F, Velasco V, Gaztambide S. Bone metastasis located on foot as a clinical presentation of an adrenocortical carcinoma. Endocrinol. Diabetes Nutr. 2018; 65(7): 418 - 419. FI: 0,000(Q4). DOI: 10.1016/j.endinu.2018.03.007. LETTER.

Santin I, Jauregi-Miguel A, Velayos T, Castellanos-Rubio A, Garcia-Etxebarria K, Romero-Garmendia I, Fernandez-Jimenez N, Irastorza I, Castaño L, Bilbao JR. Celiac Diasease-associated lncRNA Named HCG14 Regulates NOD1 Expression in Intestinal Cells. J. Pediatr. Gastroenterol. Nutr. 2018; 67(2): 225 - 231. FI: 2,752(Q1). DOI: 10.1097/MPG.0000000000001970.

Gonzalez, T, Larretxi, I, Vitoria, JC, Castano, L, Simon, E, Churruca, I, Navarro, V, Lasa, A. Celiac Male's Gluten- Free Diet Profile: Comparison to that of the Control Population and Celiac Women. Nutrients. 2018; 10(11): 1713. FI: 4,196(Q1). DOI: 10.3390/nu10111713.

Vela, A, De Lapiscina, IM, De Nanclares, GP, Amaia, R, Rica, I, Castano, L, Grau, G. Clinical and Molecular Characterization of One NR5A1 Gene Mutation Found in a Patient with 46, XY DSD. Horm. Res. Paediatr. 2018; 90(1): 592 - 593. MEETING ABSTRACT.

Martinez de la Piscina I, Najera, NP, Echevarria, IR, Saenz, SG, Gonzalez, LC. Clinical and Molecular Characterization of Pediatric and Young Patients with Pituitary Adenomas. Horm. Res. Paediatr. 2018; 90(2): 11 – 12. MEETING ABSTRACT.

García Castano, A, Madariaga, L, Gaztambide, S, Castano, L. Clinical and Molecular Study of Patients with Hypercalcemia or Hypocalcemia and Alterations in the Calcium Sensor Receiver. Horm. Res. Paediatr. 2018; 90(2): 19 - 19. MEETING ABSTRACT.

Ampuero, J, Aller, R, Gallego-Duran, R, Banales, J, Crespo, J, Mora-Cuadrado, N, Garcia-Monzon, C, Pareja, MJ, Vilar-Gomez, E, Jimenez-Aguero, R, Caballeria, J, Loste, MTA, Escudero-Garcia, D, Gomez-Camarero, J, Panero, JLC, Roman, DAD, Gonzalez-Rodriguez, A, Latorre, M, Albillos, A, Aguilar-Urbano, V, Salmeron, J, Olcoz-Goni, JL, Aspichueta, P, Santos-Laso, A, Iacono, OL, Iruzubieta, P, Graupera, I, Garcia-Torres, M, Badia-Aranda, E, Guerra, JA, Frances, R, Pastor, H, Pozo-Maroto, ED, Diago, M, Martin-Mateos, R, Benlloch, S, Fernandez-Rodriguez, C, Rey, FJGS, Estevez, P, Andrade, RJ, Turnes, J, Gomez, MR. Clinical Outcomes in biopsy-proven NAFLD patients from the HEPAmet Spanish Registry. J Hepatol. 2018; 68: 833 - 833. MEETING ABSTRACT.

Santos, BG, Gonzalez-Romero, F, Nunez-Garcia, M, Congregado, DM, de Urturi, DS, de Juan, VG, Martinez-Chantar, ML, Aurrekoetxea, I, Buque, X, Aspichueta, P. During aging osteopontin deficiency increases vulnerability to non-alcoholic fatty liver disease progression and the associated extrahepatic metabolic complications. J Hepatol. 2018; 68: 360 - 360. MEETING ABSTRACT.

Knip, M, Akerblom, HK, Al Taji, E, Becker, D, Bruining, J, Castano, L, Danne, T, de Beaufort, C, Dosch, HM, Dupre, J, Fraser, WD, Howard, N, Ilonen, J, Konrad, D, Kordonouri, O, Krischer, JP, Lawson, ML, Ludvigsson, J, Madacsy, L, Mahon, JL, Ormisson, A, Palmer, JP, Pozzilli, P, Savilahti, E, Serrano-Rios, M, Songini, M, Taback, S, Vaarala, O, White, NH, Virtanen, SM, Wasikowa, R, TRIGR Study Group. Effect of Hydrolyzed Infant Formula vs Conventional Formula on Risk of Type 1 Diabetes The TRIGR Randomized Clinical Trial. JAMA. 2018; 319(1): 38 - 48. FI: 47,661(Q1). DOI: 10.1001/jama.2017.19826.

Olazagoitia-Garrnendia, A, Santin, I, Castellanos-Rubio, A. Functional implication of celiac disease associated lncRNAs in disease pathogenesis. Comput. Biol. Med. 2018; 102: 369 - 375. FI: 2,115(Q2). DOI: 10.1016/j.compbiomed.2018.08.013.

de LaPiscina, IM, de Mingo, C, Riedl, S, Rodriguez, A, Pandey, AV, Fernandez-Cancio, M, Camats, N, Sinclair, A, Castano, L, Audi, L, Fluck, CE. GATA4 Variants in Individuals With a 46, XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes. Front. Endocrinol. 2018; 9: 142. FI: 3,519(Q2). DOI: 10.3389/fendo.2018.00142.

Simon, J, Nunez, M, Tussy, PF, Barbier-Torres, L, Ramos, DF, Santos, BG, Otsoa, FL, de Juan, VG, Alonso, C, Iruzubieta, P, Liempd, SMV, Castro, A, Varela-Rey, M, Falcon-Perez, J, Villa, E, Crespo, J, Lu, SC, Matos, J, Aspichueta, P, Delgado, TC, Martinez-Chantar, ML. Glutaminase 1 targeting in non-alcoholic steatohepatitis. J Hepatol. 2018; 68: 358 - 359. MEETING ABSTRACT.

Ampuero, J, Aller, R, Gallego-Duran, R, Banales, J, Crespo, J, Vilar-Gomez, E, Petta, S, Garcia-Monzon, C, Mora-Cuadrado, N, Castellanos-Fernandez, M, Craxi, A, Pareja, MJ, Jimenez-Aguero, R, Caballeria, J, Loste, MTA, Escudero-Garcia, D, Gomez-Camarero, J, Panero, JLC, Roman, DAD, Fabian, LG, Di Marco, V, Gonzalez-Rodriguez, A, Latorre, M, Albillos, A, Aguilar-Urbano, V, Salmeron, J, Olcoz-Goni, JL, Aspichueta, P, Santos-Laso, A, Lo Iacono, O, Iruzubieta, P, Graupera, I, Garcia-Torres, M, Badia-Aranda, E, Guerra, JA, Frances, R, Pastor, H, Del Pozo-Maroto, E, Diago, M, Martin-Mateos, R, Benlloch, S, Fernandez-Rodriguez, C, Rey, FJGS, Estevez, P, Andrade, RJ, Turnes, J, Gomez, MR. Hepamet Score: a new non-invasive method for NAFLD-related fibrosis screening in clinical practice. J Hepatol. 2018; 68: 97 - 98. MEETING ABSTRACT.

Hoey, H, Lange, K, Skinner, TC, Mortensen, H, Swift, P, Aanstoot, HJ, Castano, L, Cameron, F, de Beaufort, C, Hvidoere Int Study Grp. Hvidoere Smiley Faces: International diabetes quality of life assessment tool for young children. Pediatr. Diabetes. 2018; 19(3): 553 - 558. FI: 3,161(Q1). DOI: 10.1111/pedi.12602.

Garcia-Castano, A, Madariaga, L, Azriel, S, de Nanclares, GP, de LaPiscina, IM, Martinez, R, Urrutia, I, Aguayo, A, Gaztambide, S, Castano, L. Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia. Endocrinol. Diabetes Metab. Case Rep. 2018; 0114. FI: (Q). DOI: 10.1530/EDM-18-0114.

Congregado, DM, Aurrekoetxea, I, Santos, BG, de Urturi, DS, Nunez, M, Rodriguez, JLG, Gonzalez-Romero, F, Ares, LF, Iglesias, A, Bernales, I, Iruzubieta, P, de Juan, VG, Varela-Rey, M, Olartekoetxea, GE, Gonzalez, LM, Gaztambide, S, Gonzalez, LAC, Crespo, J, Martinez-Chantar, ML, Buque, X, Zubiaga, A, Aspichueta, P. Involvement of the CREB-E2F2-PPAR axis in non-alcoholic fatty liver disease development and progression to hepatocarcinoma. J Hepatol. 2018; 68: 337 - 337. MEETING ABSTRACT.

Maldonado-Araque, C, Valdes, S, Lago-Sampedro, A, Lino-Munoz, JA, Garcia-Fuentes, E, Perez-Valero, V, Gutierrez-Repiso, C, Goday, A, Urrutia, I, Pelaez, L, Calle-Pascual, A, Castano, L, Castell, C, Delgado, E, Menendez, E, Franch-Nadal, J, Gaztambide, S, Girbes, J, Ortega, E, Vendrell, J, Chacon, MR, Chaves, FJ, Soriguer, F, Rojo-Martinez, G. Iron deficiency is associated with Hypothyroxinemia and Hypotriiodothyroninemia in the Spanish general adult population: Di@bet.es study. Sci Rep. 2018; 8: 6571. FI: 4,122(Q1). DOI: 10.1038/s41598-018-24352-9.

Hattersley, AT, Greeley, SAW, Polak, M, Rubio-Cabezas, O, Njolstad, PR, Mlynarski, W, Castano, L, Carlsson, A, Raile, K, Chi, DV, Ellard, S, Craig, ME. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr. Diabetes. 2018; 19(27): 47 - 63. FI: 3,161(Q1). DOI: 10.1111/pedi.12772.

Pinart, M, Nimptsch, K, Bouwman, J, Dragsted, LO, Yang, C, De Cock, N, Lachat, C, Perozzi, G, Canali, R, Lombardo, R, D'Archivio, M, Guillaume, M, Donneau, AF, Jeran, S, Linseisen, J, Kleiser, C, Nothlings, U, Barbaresko, J, Boeing, H, Stelmach-Mardas, M, Heuer, T, Laird, E, Walton, J, Gasparini, P, Robino, A, Castano, L, Rojo-Martinez, G, Merino, J, Masana, L, Standl, M, Schulz, H, Biagi, E, Nurk, E, Matthys, C, Gobbetti, M, de Angelis, M, Windler, E, Zyriax, BC, Tafforeau, J, Pischon, T. Joint Data Analysis in Nutritional Epidemiology: Identification of Observational Studies and Minimal Requirements. J. Nutr.. 2018; 148(2): 285 - 297. FI: 4,398(Q1). DOI: 10.1093/jn/nxx037.

Aspichueta, P. Lipid-rich environment: a key role promoting carcinogenesis in obesity-related non-alcoholic fatty liver disease. Gut. 2018; 67(8): 1376 - 1377. FI: 17,016(Q1). DOI: 10.1136/gutjnl-2018-316047. EDITORIAL MATERIAL.

Guerrero-Fernandez, J, San Julian, C, Conde, JB, de la Vega, JAB, Urqui, AC, Gonzalez, LAC, Tello, JMM, Estevez, AR, Fernandez, DY, Martinez, LM, Martinez-Urrutia, MJ, Palma, CM, Parera, LA. Management guidelines for disorders / different sex development (DSD). An Pediatr (Barc). 2018; 89(5). FI: 1,318(Q3). DOI: 10.1016/j.anpedi.2018.06.009.

Ben Khelifa, S, Martinez, R, Dandana, A, Khochtali, I, Ferchichi, S, Castano, L. Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations. Gene. 2018; 651: 44 - 48. FI: 2,498(Q3). DOI: 10.1016/j.gene.2018.01.081.

Ampuero, J, Aller, R, Gallego-Duran, R, Banales, J, Crespo, J, Mora-Cuadrado, N, Garcia-Monzon, C, Pareja, MJ, Vilar-Gomez, E, Jimenez-Aguero, R, Caballeria, J, Loste, MTA, Escudero-Garcia, D, Gomez-Camarero, J, Panero, JLC, Roman, DAD, Gonzalez-Rodriguez, A, Latorre, M, Albillos, A, Aguilar-Urbano, V, Salmeron, J, Olcoz-Goni, JL, Aspichueta, P, Santos-Laso, A, Iacono, OL, Iruzubieta, P, Graupera, I, Garcia-Torres, M, Badia-Aranda, E, Guerra, JA, Frances, R, Pastor, H, Pozo-Maroto, ED, Diago, M, Martin-Mateos, R, Benlloch, S, Fernandez-Rodriguez, C, Rey, FJGS, Estevez, P, Andrade, RJ, Turnes, J, Gomez, MR. Metabolically unhealthy status impacts on the risk of significant liver injury in biopsy-proven NAFLD patients beyond obesity. J Hepatol. 2018; 68: 832 - 833. MEETING ABSTRACT.

Martinez-Salazar, R, Aguayo-Calcena, A, Urrutia, I, Vela, A, Fernandez, C, Castano, L. Monogenic Diabetes and Congenital Hyperinsulinism Due to Dominant Mutations at the ATP-Dependent Potassium Channel SUR1 Subunit (ABCC8 Gene). Horm. Res. Paediatr. 2018; 90(2): 38 - 38. MEETING ABSTRACT.

Martinez, E, Portillo, N, Lizarralde, E, Grau, G, Vela, A, Rodriguez, A, Rica, I. Paediatric T1DM: DKA is Still a Problem. Pediatr. Endocrinol. Rev. PER. 2018; 16(2): 233 - 239. FI: 1,086(Q4). DOI: 10.17458/per.vol16.2018.mpr.fd.t1dmdka.

Porteiro B, Fondevila MF, Buque X, Gonzalez-Rellan MJ, Fernandez U, Mora A, Beiroa D, Senra A, Gallego R, Fernø J, López M, Sabio G, Dieguez C, Aspichueta P, Nogueiras R. Pharmacological stimulation of p53 with low-dose doxorubicin ameliorates diet-induced nonalcoholic steatosis and steatohepatitis. Mol. Metab. 2018; 8: 132 - 143. FI: 6,291(Q1). DOI: 10.1016/j.molmet.2017.12.005.

Hirschler, V, Molinari, C, Gonzalez, C, Maccallini, G, Castano, LA. Prevalence of hypertension in argentinean indigenous children living at high altitudes versus US children. Clin. Exp. Hypertens. 2018; 40(8): 752 - 757. FI: 1,367(Q4). DOI: 10.1080/10641963.2018.1431258.

Segura, SA, Molina, CT, Guindulain, MJC, Bolado, GG, Merillas, MJA, Jaume, MC, Sancho, PC, Navarro, JCM, Rodriguez, JMR, Sanchez, AR, Soc Espanola Endocrinologia Pediat. Recommendations for the diagnosis and follow up of the foetus and newborn child born to mothers with autoimmune thyroid disease. An Pediatr (Barc). 2018; 89(4). FI: 1,318(Q3). DOI: 10.1016/j.anpedi.2018.07.006.

Gomez-Peralta, F, San Martin, FJE, Torre, EM, Cases, MM, Garcia, JCF, Loiola, PE, Lachica, LA, Perez, JAF, Menendez, SA, Alvarez-Guisasola, F, Echevarrian, IR, Borras, JG, Representacion Grp Trabajo Consens. Spanish Diabetes Society (SED) recommendations for the pharmacologic treatment of hyperglycemia in type 2 diabetes: 2018 Update. Endocrinol. Diabetes Nutr. 2018; 65(10): 611 - 624. FI: 0,000(Q4). DOI: 10.1016/j.endinu.2018.08.004.

Romero-Garmendia, I, Jauregi-Miguel, A, Santin, I, Bilbao, JR, Castellanos-Rubio, A. Subcellular Fractionation from Fresh and Frozen Gastrointestinal Specimens. J. Vis. Exp. 2018; (137): e57740. FI: 1,184(Q2). DOI: 10.3791/57740.

Mogas, E, Campos-Martorell, A, Clemente, M, Castano, L, Moreno-Galdo, A, Yeste, D, Carrascosa, A. Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients. Endocrinol. Diabetes Metab. Case Rep. 2018; 0009. FI: (Q). DOI: 10.1530/EDM-18-0009.

Skinner, TC, Lange, KS, Hoey, H, Mortensen, HB, Aanstoot, HJ, Castano, L, Skovlund, S, Swift, PGF, Cameron, FJ, Dorchy, HR, Palmert, MR, Kaprio, E, Robert, JJ, Danne, T, Neu, A, Shalitin, S, Chiarelli, F, Chiari, G, Urakami, T, Njolstad, PR, Jarosz-Chobot, PK, Roche, EF, Castro-Correia, CG, Kocova, M, Aman, J, Schonle, E, Barrett, TG, Fisher, L, de Beaufort, CE, Hvidoere Study Grp. Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. Pediatr. Diabetes. 2018; 19(3): 559 - 565. FI: 3,161(Q1). DOI: 10.1111/pedi.12606.

Lertxundi, U, Hernandez, R, San Miguel, S, Corcostegui, B, Prieto, M, Gonzalez, U, Arana, A, Medrano, J. The burden of constipation in psychiatric hospitals. Int. J. Psychiat. Clin. 2018; 22(2): 143 - 150. FI: 1,337(Q4). DOI: 10.1080/13651501.2017.1384023.

Barbier-Torres, L, Delgado, TC, Iruzubieta, P, Ramos, DF, de Juan, VG, Varela-Rey, M, Tussy, PF, Zubiete-Franco, I, Simon, J, Otsoa, FL, Congregado, DM, Santos, BG, Buque, X, Crespo, J, Lu, SC, Matos, J, Aspichueta, P, Anguita, J, Rincon, M, Martinez-Chantar, ML. The liver-specific deletion of the respiratory chain inhibitor MCJ attenuates NAFLD progression by enhancing hepatic beta-oxidation. J Hepatol. 2018; 68: 362 - 362. MEETING ABSTRACT.

Ruzafa, N, Pereiro, X, Aspichueta, P, Araiz, J, Vecino, E. The Retina of Osteopontin deficient Mice in Aging. Mol. Neurobiol.. 2018; 55(1): 213 - 221. FI: 5,076(Q1). DOI: 10.1007/s12035-017-0734-9.

Romero-Garmendia I, Garcia-Etxebarria K, Hernandez-Vargas H, Santin I, Jauregi-Miguel A, Plaza-Izurieta L, Cros MP, Legarda M, Irastorza I, Herceg Z, Fernandez-Jimenez N, Bilbao JR. Transcription Factor Binding Site Enrichment Analysis in Co-Expression Modules in Celiac Disease. Genes. 2018; 9(5): 245. FI: 3,191(Q2). DOI: 10.3390/genes9050245.

Mata, MAS, Viseras, IPF, Barea, IT, Gonzalez, LC. Transient Neonatal Diabetes Mellitus Due to Not Described Mutation in ABCC8 Gene with Different Behaviour in Affected Family Members. Horm. Res. Paediatr.. 2018; 90(1): 232 - 232. MEETING ABSTRACT.

Madariaga Dominguez, Leire, Garcia Castaño, Alejandro, Ariceta Iraola, Mª Gema, Martinez Salazar, Rosa Maria, Aguayo Calcena, Anibal Agustin, Castaño Gonzalez, Luis Antonio. Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract. CKJ: Clinical Kidney Journal. 2018.. DOI: 10.1093/ckj/sfy102.

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Tesis

Autor/a: María Pilar Vela Orús. Título: Isquemia crítica en pacientes diabéticos ¿Es válida la nueva clasificación WIfI?. Director/a: Dra. Sonia Gaztambide Sáenz. UPV/EHU