Publicaciones

PUBLICACIONES

  • Tubío-Pérez RA, Torres-Durán M, Fernández-Villar A, Ruano-Raviña A. Alpha-1 antitrypsin deficiency and risk of lung cancer: A systematic review. Transl Oncol. 2021 Jan;14(1):100914. doi: 10.1016/j.tranon.2020.100914. PMID: 33142121; PMCID: PMC7642868.
  • Tumpara S, Ballmaier M, Wrenger S, König M, Lehmann M, Lichtinghagen R, Martinez-Delgado B, Korenbaum E, DeLuca D, Jedicke N, Welte T, Fromme M, Strnad P, Stolk J, Janciauskiene S. Polymerization of misfolded Z alpha-1 antitrypsin protein lowers CX3CR1 expression in human PBMCs. Elife. 2021 May 18;10:e64881. doi: 10.7554/eLife.64881. PMID: 34002692.
  • Tumpara S, Korenbaum E, Kühnel M, Jonigk D, Olejnicka B, Davids M, Welte T, Martinez-Delgado B, Janciauskiene S. A Novel Mouse Monoclonal Antibody C42 against C-Terminal Peptide of Alpha-1-Antitrypsin. Int J Mol Sci. 2021 Feb 21;22(4):2141. doi: 10.3390/ijms22042141. PMID: 33670003.
  • José María Hernández Pérez, Juan Marco Figueira Gonçálves , Yolanda Ramallo Fariña. Alpha-1 antitrypsin as a risk marker in SARS-CoV-2 infection Arch Med Sci 2021; 17 (4): 1134–1136 DOI: https://doi.org/10.5114/aoms/136562
  • Núñez A, Belmonte I, Miranda E, Barrecheguren M, Farago G, Loeb E, Pons M, Rodríguez-Frías F, Gabriel-Medina P, Rodríguez E, Genescà J, Miravitlles M, Esquinas C. Association between circulating alpha-1 antitrypsin polymers and lung and liver disease. Respir Res. 2021; 22(1): 244.doi.org/10.1186/s12931-021-01842-5
  • Schouten IGM, Kasteleyn MJ, Tsonaka R, Bals R, Turner AC, Ferrarotti I, Corsico AG, Lara B, Miravitlles M, Stockley RA, Stolk J. Long-term effect of α1-antitrypsin augmentation therapy on the decline of FEV1 in deficient patients: an analysis of the AIR database. ERJ Open Res. 2021; 7(3): 00194-2021.
  • Matamala N, Lara B, Gómez-Mariano G, Martínez S, Vázquez-Domínguez I, Otero-Sobrino Á, Muñoz-Callejas A, Sánchez E, Esquinas C, Bustamante A, Cadenas S, Curi S, Lázaro L, Martínez MT, Rodríguez E, Miravitlles M, Torres-Duran M, Herrero I, Michel FJ, Castillo S, Hernández-Pérez JM, Blanco I, Casas F, Martínez-Delgado B. miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease. Arch Bronconeumol. 2021; 57(4): 457-463.
  • Martin T, Miravitlles M, Tello Furtado S. A PI*MS is not always a PI*MS. An example of when genotyping for alpha-1 antitrypsin deficiency is necessary. Pulmonology. 2021; 27(3): 272-273.
  • Jardim JR, Casas-Maldonado F, Arrabal Fernandes FL, Cruz de O Castellano MV, Torres-Durán M, Miravitlles M. Update and future perspectives on the diagnosis of alpha-1 antitrypsin deficiency in Brazil. J Bras Pneumol 2021; 47(3): e20200380.
  • Pons M, Nuñez A, Esquinas C, Torres-Duran M, Rodríguez-Hermosa JL, Calle M, Tubio-Pérez R, Belmonte I, Rodríguez-Frías F, Rodríguez E, Genescà J, Miravitlles M, Barrecheguren M. Utility of transient elastography for screening of liver disease in patients with alpha1-antitrypsin deficiency. J Clin Med 2021; 10(8): 1724.
  • Barjaktarevic I, Miravitlles M. Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis. BMC Pulm Med. 2021; 21(1): 99.
  • Barrecheguren M, Torres-Duran M, Casas-Maldonado F, Miravitlles M. Spanish Implementation of the New International Alpha-1 Antitrypsin Deficiency International Registry: The European Alpha-1 Research Collaboration (EARCO). Arch Bronconeumol 2021; 57(2): 81-82.
  • Bellemare J, Gaudreault N, Valette K, Belmonte I, Nuñez A, Miravitlles M, Maltais F, Bossé Y. The Clinical Utility of Determining the Allelic Background of Mutations Causing Alpha-1 Antitrypsin Deficiency: The Case with the Null Variant Q0(Mattawa)/Q0(ourém). Chronic Obstr Pulm Dis. 2021; 8(1): 31-40.
  • López-Campos JL, Casas-Maldonado F, Torres-Duran M, Medina-Gonzálvez A, Rodriguez-Fidalgo ML, Carrascosa I, Calle M, Osaba L, Rapun N, Drobnic E, Miravitlles M. Results of a diagnostic procedure based on multiplex technology on dried blood spots and buccal swabs for subjects with suspected alpha1 antitrypsin deficiency. Arch Bronconeumol 2021; 57(1): 42-50.
  • Scarlata S, Santangelo S, Ferrarotti I, Corsico AG, Ottaviani S, Finamore P, Fontana D, Miravitlles M, Incalzi RA. Electrophoretic α1-globulin for screening of α1-antitrypsin deficient variants. Clin Chem Lab Med. 2020 58(11):1837-1845.
  • Barrecheguren M, O’Hara K, Wilkens M, Boyd J, Kolda E, Lara B, Chorostowska-Wynimko J, Ferrarotti I, Chlumský J, Clarenbach C, Greulich T, Miravitlles M, Sucena M. Research Priorities in alpha-1 antitrypsin deficiency: Results of a patients’ and healthcare providers’ international survey from the EARCO Clinical Research Collaboration. ERJ Open Res 2020; 6(4): 00523-2020.
  • Requena-Fernández MÁ, Dasí F, Castillo S, Barajas-Cenobi R, Navarro-García MM, Escribano A. Knowledge of Rare Respiratory Diseases among Paediatricians and Medical School Students. J Clin Med. 2020 ;9(3):869. doi: 10.3390/jcm9030869.PMID: 32235794 Free PMC article.ç
  • Bañuls L, Pellicer D, Castillo S, Navarro-García MM, Magallón M, González C, DasíF.Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far? J Clin Med. 2020;9(8):2577. doi: 10.3390/jcm9082577. PMID: 32784514 Free PMC article.
  • Tumpara S, Martinez-Delgado B, Gomez-Mariano G, Liu B, DeLuca DS, Korenbaum E, Jonigk D, Jugert F, Wurm FM, Wurm MJ, Welte T, Janciauskiene S. The Delivery of α1-Antitrypsin Therapy Through Transepidermal Route: Worthwhile to Explore. Front pharmacol. 2020 Jul 3;11:983. doi: 10.3389/fphar.2020.00983. eCollection 2020. PMID: 32719598.
  • Nerea Matamala, Beatriz Lara, Gema Gomez-Mariano, Selene Martinez, Irene Vázquez-Domínguez, Álvaro Otero-Sobrino, Antonio Muñoz-Callejas, Cristina Esquinas, Ana Bustamante, Sergio Cadenas, Sergio Curi, Lourdes Lázaro, María Teresa Martínez, Esther Rodríguez, Marc Miravitlles, María Torres, Inés Herrero, Francisco Javier Michel, Silvia Castillo, José Mª Hernández, Ignacio Blanco, Francisco Casas, Beatriz Martinez-Delgado. miR-320c regulates SERPINA1 expression and isassociatedwithpulmonary disease in alpha-1-antitrypsin deficiency. Archbronconeumol. 2020. May 18:S0300-2896(20)30084-3. doi: 10.1016/j.arbres.2020.03.006.
  • Gema Gómez-Mariano, Nerea Matamala, Selene Martínez, Iago Justo, Alberto Marcacuzco, Carlos Jimenez, Sara Monzón, Isabel Cuesta, Cristina Garfia, María Teresa Martínez, Meritxell Huch, Ignacio Pérez de Castro, Manuel Posada, Sabina Janciauskiene, Beatriz Martínez-Delgado. Liver Organoids reproduce Alpha-1 Antitrypsin Deficiency-related liver disease. Hepatology international. 2020;14(1):127–137. doi:10.1007/s12072-019-10007-y.
  • Lopez-Campos JL, Casas-Maldonado F, Torres-Duran M, Medina-Gonzálvez A, Rodriguez-Fidalgo ML, Carrascosa I, Calle M, Osaba L, Rapuni N, Drobnic E, Miravitlles M. Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin deficiency. Arch Bronconeumol. 2020. https://doi.org/10.1016/j.arbres.2020.04.014
  • José Luis López-Campos, Laura Carrasco Hernandez, Eduardo Marquez-Martína, Francisco Ortega Ruiza, Beatriz Martínez Delgado. Diagnostic Performance of a Lateral Flow Assay for the Detection of Alpha-1-Antitrypsin Deficiency. Arch Bronconeumol. 2020;56(2):124–126. doi:10.1016/j.arbres.2019.09.009.
  • Blanco I, Diego I. α(1)-antitrypsin PI*SZ genotype: a SERPINA1 deficiency haplotype with uncertain clinical and therapeutic implications. EurRespir J. 2020 Jun 18;55(6):2000713. doi: 10.1183/13993003.00713-2020.
  • Blanco I, Diego I, Bueno P, Pérez-Holanda S, Casas-Maldonado F, Miravitlles M. Prevalence of α(1)-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review.Eur Respir Rev. 2020 Jul 21;29(157):200014. doi: 10.1183/16000617.0014-2020.
  • Ramón Tubio-Perez, María Torres-Durán, Alberto Fernández-Villar y Alberto Ruano-Raviña.Alpha 1 antitripsynDeficiency and RiskofLungCancer. A systematicreview. TranslOncol 2021 Jan;14(1):100914. doi: 10.1016/j.tranon.2020.100914.
  • Irene Belmonte, Alexa Núñez, Miriam Barrecheguren, Cristina Esquinas,Mònica Pons, Rosa M. López-Martínez, Gerard Ruiz, Albert Blanco-Grau, Joan Genescà, Marc Miravitlles, Francisco Rodríguez-Frías..Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory. International Journal of Chronic Obstructive Pulmonary Disease 2020: 15: 2421–2431
  • Matamala N, Gomez-Mariano G, Perez JA, Baladrón B, Torres-Durán M, Michel FJ, Saez R, Hernández-Pérez JM, Belmonte I, Rodriguez-Frias F, Blanco I, Strnad P, Janciauskiene S, Martinez-Delgado B. New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency. Am J Respir Cell Mol Biol. 2020 Oct;63(4):444-451. doi: 10.1165/rcmb.2020-0021OC. PMID: 32515985
  • Miravitlles M, Nuñez A, Torres-Durán M, Casas-Maldonado F, Rodríguez-Hermosa JL, López-Campos JL, Calle M, Rodríguez E, Esquinas C, Barrecheguren M. The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency. COPD. 2020; 17(4): 346-354.
  • Blanco I, Diego I, Bueno P, Pérez-Holanda S, Casas-Maldonado F, Miravitlles M. Prevalence of α1-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review. Eur Respir Rev 2020; 29(157): 200014.
  • Sucena M, Gomes J, Guimarães C, Miravitlles M. Implementation of European Alpha-1 Research Collaboration (EARCO) in Portugal: the future starts now. Pulmonology 2020; 26(4): 181-183.
  • McElvaney GN, Sandhaus RA, Miravitlles M, Turino GM, Seersholm N, Wencker M, Stockley RA. Clinical considerations in individuals with Alpha-1 Antitrypsin PI*SZ genotype. Eur Respir J. 2020; 55: pii 1902410.
  • Greulich T, Altraja A, Barrecheguren M, Bals R, Chlumsky J, Chorostowska-Wynimko J, Clarenbach C, Corda L, Corsico AG, Ferrarotti I, Esquinas C, Gouder C, Hećimović A, Ilic A, Ivanov Y, Janciauskiene S, Janssens W, Kohler M, Krams A, Lara B, Mahadeva R, McElvaney G, Mornex JF, O’Hara K, Parr D, Piitulainen E, Schmid-Scherzer K, Seersholm N, Stockley RA, Stolk J, Sucena M, Tanash H, Turner A, Ulmeanu R, Wilkens M, Yorgancioğlu A, Zaharie A, Miravitlles M. Protocol for the EARCO Registry: a pan-European observational study in patients with α1-antitrypsin deficiency. ERJ Open Res 2020; 6(1). pii: 00181-2019.
  • Janciauskiene S, DeLuca DS, Barrecheguren M, Welte T, Miravitlles M. Serum Levels of Alpha1-antitrypsin and their relationship with COPD in the General Spanish Population. Arch Bronconeumol. 2020; 56: 76-83.
  • Barrecheguren M, Miravitlles M. Treatment with inhaled α1-antitrypsin: a square peg in a round hole? Eur Respir J 2019; 54(5). pii: 1901894.
  • Magallón M, Navarro-García MM, DasíF.Oxidative Stress in COPD. J Clin Med. 2019 Nov 13;8(11). pii: E1953. doi: 10.3390/jcm8111953. PMID:31766150.
  • Stolk J; N Aggarwal; IHochnadel; S Wrenger; B Martinez-Delgado; T Welte; Ta Yevsa, S Janciauskiene. Blood monocyte-macrophage profiles in COPD patients with PiMM and PiZZ a1-antitrypsin. RESPIRATORY MEDICINE 2019; 148: 60-62.
  • Ercetin E, Richtmann S, Martinez-Delgado B, Gomez-Mariano G, Wrenger S, Korenbaum E, Liu B, DeLuca D, Kühnel MP, Jonigk D, Yuskaeva K, Warth A, Muley T, Winter H, Meister M, Welte T, Janciauskiene S, Schneider MA. Clinical Significance of SERPINA1 Gene and Its Encoded Alpha1-antitrypsin Protein in NSCLC. CANCERS. 2019 Sep 4;11(9). pii: E1306. doi: 10.3390/cancers11091306.
  • JL López-Campos, L Carrasco Hernandez, E Marquez-Martína, F Ortega Ruiza, B Martínez Delgado. Diagnostic Performance of a Lateral Flow Assay for the Detection of Alpha-1-Antitrypsin Deficiency. ARCH BRONCONEUMOL. 2019. https://doi.org/10.1016/j.arbres.2019.09.009.
  • N Matamala, B Lara, G Gomez-Mariano, S Martinez, I Vázquez-Domínguez, A Otero-Sobrino, A Muñoz-Callejas, C Esquinas, A Bustamante, S Cadenas, S Curi, L Lázaro, MT Martínez, E Rodríguez, M Miravitlles, M Torres, I Herrero, F Javier Michel, S Castillo, JM Hernández, I Blanco, F Casas, B Martinez-Delgado. miR-320c regulates SERPINA1 expression and is induced with pulmonary disease in alpha-1-antitrypsin deficiency. Arch Bronconeumol (Engl Ed) 2020 May 18;S0300-2896(20)30084-3.
  • Gema Gómez-Mariano, Nerea Matamala, Selene Martínez, Iago Justo, Alberto Marcacuzco, Carlos Jimenez, Sara Monzón, Isabel Cuesta, Cristina Garfia, María Teresa Martínez, Meritxell Huch, Ignacio Pérez de Castro, Manuel Posada, Sabina Janciauskiene, Beatriz Martínez-Delgado. Liver Organoids reproduce Alpha-1 Antitrypsin Deficiency-related liver disease. HEPATOLOGY INTERNATIONAL. 2019. DOI:10.1007/s12072-019-10007-y.
  • Calle M, Álvarez-Sala JL, Rodríguez Hermosa JL. Alpha 1 Antitrypsin Deficiency: Rare or Under-Diagnosed Disease?EC Pulmonology and Respiratory Medicine 8.7 (2019).
  • Quintano Jiménez JA, Casas Maldonado F, Barrecheguren Fernández M, Ginel Mendoza L, Gómez Sáenz JT, Hidalgo Requena A. Documento para el abordaje diagnóstico y terapéutico del Déficit de Alfa-1 Antitripsina desde Atención Primaria. ISBN: 978-84-120185-5-4. D.L.: B 23534-2019. IDEMM-FARMA, S.L. C/ Sicilia, 253, 3.º 3.ª 08025 BARCELONA
  • Janciauskiene S, DeLuca DS, Barrecheguren M, Welte T, Miravitlles M. Serum Levels of Alpha1-antitrypsin and Their Relationship With COPD in the General Spanish Population. Arch Bronconeumol. 2019 May 29. pii: S0300-2896(19)30112-7. doi: 10.1016/j.arbres.2019.03.001. [Epub ahead of print]
  • Hamesch K, Mandorfer M, Pereira VM, Moeller LS, Pons M, Dolman GE, Reichert MC, Heimes CV, Woditsch V, Voss J, Lindhauer C, Fromme M, Spivak I, Guldiken N, Zhou B, Arslanow A, Schaefer B, Zoller H, Aigner E, Reiberger T, Wetzel M, Siegmund B, Simões C, Gaspar R, Maia L, Costa D, Bento-Miranda M, van Helden J, Yagmur E, Bzdok D, Stolk J, Gleiber W, Knipel V, Windisch W, Mahadeva R, Bals R, Koczulla R, Barrecheguren M, Miravitlles M, Janciauskiene S, Stickel F, Lammert F, Liberal R, Genesca J, Griffiths WJ, Trauner M, Krag A, Trautwein C, Strnad P; European Alpha1-Liver Study Group. Liver Fibrosis and Metabolic Alterations in Adults with Alpha1 Antitrypsin Deficiency Caused by the Pi*ZZ Mutation. Gastroenterology 2019; 157: 705-719.
  • Horváth I, Canotilho M, Chlumský J, Chorostowska-Wynimko J, Corda L, Derom E, Ficker JH, Kneussl M, Miravitlles M, Sucena M, Thabut G, Turner AM, van ‘t Wout E, McElvaney NG. Diagnosis and management of α1-antitrypsin deficiency in Europe: an expert survey. ERJ Open Res. 2019; 5(1). pii: 00171-2018.
  • Miravitlles M, Chorostowska-Wynimko J, Ferrarotti I, McElvaney NG, O’Hara K, Stolk J, Stockley RA, Turner A, Wilkens M, Greulich T; EARCO Clinical Research Collaboration; Members of the EARCO Clinical Research Collaboration. The European Alpha-1 Research Collaboration (EARCO): a new ERS Clinical Research Collaboration to promote research in alpha-1 antitrypsin deficiency. Eur Respir J 2019; 53(2). pii: 1900138.
  • Esquinas C, Miravitlles M. Are There Differences Between the Available Treatments for Emphysema Associated with Alpha-1 Antitrypsin Deficiency?Arch Bronconeumol. 2018 Sep;54(9):451-452. doi: 10.1016/j.arbres.2018.01.006.
  • Nuñez A, Barrecheguren M, Rodríguez E, Miravitlles M, Esquinas C.Diagnosis of alpha1-antitrypsin deficiency not just in severe COPD.Pulmonology. 2018 Jun 16. pii: S2531-0437(18)30081-3. doi: 10.1016/j.pulmoe.2018.05.005.
  • Esquinas C, Serreri S, Barrecheguren M, Rodriguez E, Nuñez A, Casas-Maldonado F, Blanco I, Pirina P, Lara B, Miravitlles M.Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT).Int J Chron Obstruct Pulmon Dis. 2018 Mar 23;13:1001-1007. doi: 10.2147/COPD.S155226. eCollection 2018.
  • Calle Rubio M, Soriano JB, López-Campos JL, Soler-Cataluña JJ, Alcázar Navarrete B, Rodríguez González-Moro JM, Miravitlles M, Barrecheguren M, Fuentes Ferrer ME, Rodriguez Hermosa JL; EPOCONSUL Study. Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study. PLoS One 2018; 13: e0198777.
  • Greulich T, Rodríguez-Frias F, Belmonte I, Klemmer A, Vogelmeier CF, Miravitlles M. Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency. Respir Res 2018; 19: 151.
  • Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B. Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.Am J Respir Cell Mol Biol. 2018 Jun;58(6):706-716. doi: 10.1165/rcmb.2017-0179OC.
  • N. Matamala Zamarro, G. Gómez Mariano, S. Martínez Rodríguez, A. Damián Verde, A. Navarro Riaza, C. Esquinas López, A. Bustamante Ruiz, S. Cadenas Menéndez, S. CuriChercoles, L. Lázaro Asegurado, M.T. Martínez Martínez, E. Rodríguez González, M. Torres Durán, I. Herrero Labarga, F.J. Michel de la Rosa, S. Castillo Corullón, F. Dasí Fernández, F. Rodríguez Frías, A. Escribano Montaner, M.J. Cabero Pérez, M. Miravitlles Fernández, B. Lara Gallego, I. Blanco, F. Casas Maldonado y B. Martínez Delgado. Importancia del diagnóstico genético en pacientes con déficit de alfa-1-antitripsina. Estimación de variantes raras e identificación de nuevas variantes en la población española. ArchBronconeumol 2018;54 Supl C1:49-81. http://www.archbronconeumol.org/es-vol-54-num-sc1-sumario-X0300289618X43348
  • Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Bañuls L, Magallón M, Casas F, Dasí F. Alpha-1 antitrypsin deficiency: outstanding questions and future directions. Orphanet J Rare Dis 2018; 13: 114.
  • Barrecheguren M, Miravitlles M. Augmentation therapy for emphysema due to alpha-1 antitrypsin deficiency: Pro. Arch Bronconeumol 2018; 54: 363-364.
  • Soriano JB, Lucas SJ, Jones R, Miravitlles M, Carter V, Small I, Price D, Mahadeva R; Respiratory Effectiveness Group’. Trends of testing for and diagnosis of alpha-1 antitrypsin deficiency in the UK: more testing is needed. Eur Respir J 2018; 52: 1800360.
  • Ignacio Blanco Blanco, Francisco Casas Maldonado, Beatriz Lara Gallego, Beatriz Martínez Delgado, Marc Miravitlles Fernández. Déficit de α1-antitripsina. En: Manual SEPAR de Neumología y Cirugía Torácica, 2018. ISBN: 978-84-09-01621-1.
  • Leer más…
  • Lara B, Blanco I, Martínez MT, Rodríguez E, Bustamante A, Casas F, Cadenas S, Hernández JM, Lázaro L, Torres M, Curi S, Esquinas C, Dasí F, Escribano A, Herrero I, Martínez-Delgado B, Michel FJ, Rodríguez-Frías F, Miravitlles M. Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis. Arch Bronconeumol. 2017 Jan;53(1):13-18. doi: 10.1016/j.arbres.2016.05.003.
  • Matamala N, Aggarwal N, Iadarola P, Fumagalli M, Gomez-Mariano G, Lara B, Martinez MT, Cuesta I, Stolk J, Janciauskiene S, Martinez-Delgado B. Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene. PLoS One. 2017 Jan 20;12(1):e0170533. doi: 10.1371/journal.pone.0170533
  • Blanco I, Bueno P, Diego I, Pérez-Holanda S, Casas-MaldonadoF, Esquinas C, Miravitlles M. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017 Feb 13;12:561-569. doi: 10.2147/COPD.S125389.
  • Blanco I, Bueno P, Diego I, Pérez-Holanda S, Lara B, Casas-Maldonado F, Esquinas C, Miravitlles M. Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide. Int J Chron Obstruct Pulmon Dis. 2017 Jun 8;12:1683-1694. doi: 10.2147/COPD.S137852.
  • Esquinas C, JanciauskieneS, Gonzalo R, Mas de Xaxars G, Olejnicka B, Belmonte I, Barrecheguren M, Rodriguez E, Nuñez A, Rodriguez-Frias F, Miravitlles M. Gene and miRNA expression profiles in PBMCs from patients with severe and mild emphysema with PiZZ Alpha1-Antitrypsin Deficiency. Int J Chron Obstruct Pulmon Dis. 2017 Nov 29;12:3381-3390.
  • Nerea Matamala, Beatriz Lara, Gema Gomez-Mariano, Selene Martinez, Diana Retana, Taiomara Fernandez, Ramona Angeles Silvestre, Irene Belmonte, Francisco Rodriguez-Frias, Marçal Vilar, Raquel Sáez, Igor Iturbe, Silvia Castillo, María Molina-Molina, Anna Texido, Gema Tirado-Conde, Jose Luis Lopez-Campos, Ignacio Blanco, Sabina Janciauskiene, Beatriz Martinez-Delgado. Characterization of novel missense variants of SERPINA1 gene causing alpha-1 antitrypsin deficiency. Am J Respir Cell Mol Biol. 2017 Dec 12. doi: 10.1165/rcmb.2017-0179OC
  • Blanco I, Diego I, Bueno P, Fernández E, Casas-Maldonado F, Esquinas C, Soriano JB, Miravitlles M. Geographical distribution of COPD prevalence in Europe, estimated by an inverse distance weighting interpolation technique. Int J Chron Obstruct Pulmon Dis. 2017 Dec 21;13:57-67. doi: 10.2147/COPD.S15085
  • Ramón Antonio Tubío-Pérez, Milagros Blanco-Pérezb, Cristina Ramos-Hernández y María Torres-Durána, Descripción de la deficiencia de alfa-1-antitripsina asociada al alelo PI*Q0 Ourém en una niña de 2 años de edad y su estudio familiar. Un caso infrecuente. Arch Bronconeumol. 2017. http://dx.doi.org/10.1016/j.arbres.2017.09.
  • Lara B, Blanco I, Martínez MT, Rodríguez E, Bustamante A, Casas F, Cadenas S, Hernández JM, Lázaro L, Torres M, Curi S, Esquinas C, Dasí F, Escribano A, Herrero I, Martínez-Delgado B, Michel FJ, Rodríguez-Frías F, Miravitlles M. Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis. Arch Bronconeumol. 2016 Jun 17. pii: S0300-2896(16)30124-7. doi: 10.1016/j.arbres.2016.05.003. IF: 1.771
  • Blanco I, Lipsker D, Lara B, Janciauskiene S. Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency: an update.Br J Dermatol. 2016 Apr;174(4):753-62. doi: 10.1111/bjd.14309. Review
  • Hernández-Pérez JM, Ramos-Díaz R, Fumero-García S, Pérez JA. Molecular characterization of PI*Q0la palma, a new alpha-1-antitrypsin null allele that combines two defective genetic variants.Clin Genet. 2016 Nov 24. doi: 10.1111/cge.12889
  • Blanco I, Bueno P, Diego I, Pérez-Holanda S, Casas F, Esquinas C, Miravitlles M. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017 Feb 13;12:561-569.
  • Matamala N, Aggarwal N, Iadarola P, Fumagalli M, Gomez-Mariano G, Lara B, Martinez MT, Cuesta I, Stolk J, Janciauskiene S, Martinez-Delgado B. Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene. PLoS One. 2017 Jan 20;12(1):e0170533. doi: 10.1371/journal.pone.0170533. IF: 3.057
  • Nupur Aggarwal, Janine Kropke, Nerea Matamala, Beatriz Martinez-Delgado, Maria Teresa Martínez, Heiko Golpo, Jan Stolk, Sabina Janciauskiene, Rembert Koczulla. Alpha1-antitrypsin regulates transcriptional levels of serine proteases in blood mononuclear cells. American Journal of Respiratory and Critical Care Medicine 2016, 193(9):1065-1967. IF:12.996.
  • Nupur Aggarwal, Beatriz Martinez Delgado, Salipalli Sandeep, Nerea Matamala, Jessica Rademacher, Nicolas Schwerk, Tobias Welte, Sabina Janciauskiene, Felix C. Ringshausen. Why do some adults with PiMZ alpha1-antitrypin develop bronchiectasis?. European Respiratory Journal 2016. DOI: 10.1183/23120541.00021-2016. IF:7.636
  • Matamala N, Martínez MT, Lara B, Pérez L, Vázquez I, Jimenez A, Barquín M, Ferrarotti I, Blanco I, Janciauskiene S, Martinez-Delgado B. Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency. J Transl Med. 2015;13:211.
  • Lara B, Miravitlles M. Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency; Comparison of the Characteristics of PISZ and PIZZ Individuals. COPD. 2015;12 Suppl 1:27-31.
  • Casas F, Blanco I, Martínez MT, Bustamante A, Miravitlles M, Cadenas S, Hernández JM, Lázaro L, Rodríguez E, Rodríguez-Frías F, Torres M, Lara B. Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update. Arch Bronconeumol. 2015;51:185-92
  • Lara B, Martinez MT, Blanco I, Hernández-Moro C, Velasco E, Ferrarotti I, Rodríguez-Frías F, Pérez L, Vázquez I, Alonso J, Posada M, Martínez-Delgado B. Severe Alpha-1 Antitrypsin Deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid. Respir Research 2014, 15: 125.
  • Escribano A, Amor M, Pastor S, Castillo S, Sanz F, Codoñer-Franch P, Dasí F.
  • Decreased glutathione and low catalase activity contribute to oxidative stress in children with a-1 antitrypsin deficiency. Thorax 2015 Jan;70(1):82-3. doi: 10.1136/thoraxjnl-2014-205898. Epub 2014 Jul 15.
  • Serres F, Blanco I. Role of alpha-1 antitrypsin in human health and disease..J Intern Med. 2014 Mar 24. doi: 10.1111/joim.12239.
  • Ignacio Blanco «Oxidant-mediated Aggregation of Z a1-Antitrypsin in Pulmonary Epithelial Cells Amplifies Lung Inflammation», American Journal of Respiratory and Critical Care Medicine, 2014;189: 877-879.
  • Description of Alpha-1-Antitrypsin Deficiency Associated With PI*Q0ourém Allele in La Palma Island (Spain) and a Genotyping Assay for its Detection. Hernández Pérez JM, Ramos Díaz R, Fumero García S, Pérez Pérez JA. Arch Bronconeumol. 2014 Mar 24 (En prensa).
  • Successful a1-antitrypsin replacement therapy in a patient with a1-antitrypsin deficiency and granulomatosis with polyangiitis. Hernández Pérez JM, Fumero García S, Alvarez Pío A. Rheumatology (Oxford). 2013 Apr;52(4):755-7.
  • Lara B, Abaitua I, Castillo D, Casanova A, Cano E, Galan G, Ojanguren I, Posada M. Registros de enfermedades respiratorias integrados en el registro nacional de enfermedades raras. Arch Bronconeumol 2014 (en prensa).
  • Ignacio Blanco, Frederick J. de Serres, Victoriano Cárcaba, Beatríz Lara y Enrique Fernández-Bustillo Alpha-1 antitrypsin deficiency PI*Z and PI*S gene frequency distribution using on maps of the world by an inverse distance weighting (IDW) multivariate interpolation method. Hepat Mon. 2012; 12(10HCC)x7434.DOI:10.5812/hepatmon.7434
  • Piras B, Ferrarotti I, Lara B, Martínez M, Bustamante A, Ottaviani S, Pirina P, Luisetti M, Miravitlles M. Clinical phenotypes of Italian and Spanish patients with alpha-1-antitrysin deficiency. Eur Respir J 2012 (en prensa).
  • Miravitlles M. Alpha-1- antitrypsin and other proteinase inhibitors Curr Opìn Pharmacol 2012;12(3): 309-14.
  • Rodríguez-Frías F, Miravitlles M, Vidal R,Camos S, Jardí R. Rare alpha-1 antitrypsin rare variants: are they really so rare? Ther Adv Respir Dis 2012;6(2):79-85.
  • Barros-Tizón JC, Torres ML, Blanco I, Martínez M, investigators of the REXA study group. Reduction of severe exacerbations and hospitalisation derived costs in alpha-1 antitrypsin deficient patients treated with augmentation therapy. Ther Adv Respir Dis 2012;6(2):67-78.
  • Hernández-Pérez JM, Fumero S, Alvarez A. Successful alpha-1 antitrypsin replacement therapy in a patient with alpha-1 antitrypsin deficiency and granulomatosis with poliangiitis. Rheumatology 2012.
  • Blanco I, Lara B, de Serres F. Efficacy of alpha-1 antitrypsin augmentation therapy in conditions other than pulmonary emphysema. Orphanet J Rare Dis. 2011 12;6:14.
  • Lara B. Et al. Registros de enfermedades respiratorias en España: fundamentos y organización Arch Bronconeumol 2011; 47 (8):389-396.
  • Tirado-Conde G, Lara B, Casas F, Blanco I, Bustamante A, Cadenas S, Martínez MT, Lázaro L, Torres M, Hernández Pérez JM, Vidal R, Miravitlles M. Historia natural del déficit de alfa-1-antitripsina. Arch Bronconeumol 2011;26.
  • Molina J, Flor X, García R, Timiraos R, Tirado-Conde G, Miravitlles M. The IDDEA project: a strategy for the detection of alpha-1 antitrypsin deficiency in COPD patients in the primary care setting. Ther Adv Respir Dis 2011; 5(4):237-43.
  • Vidal R, Blanco I, Casas F, Jardi R, Miravitlles M. Diagnóstico y tratamiento del déficit de alfa-1antitripsina. Arch Bronconeumol 2006 Dec;42(12):645-59. www.archbronconeumol.org
  • Rodriguez F, de la Roza C, Jardi R, Schaper M, Vidal R, Miravitlles M. Glutathione S-Transferase P1 and Lung Function in Patients With alpha 1- antitrypsin deficiency and COPD. Chest. 2005;127(5):1537-43.
  • De la Roza C, Costa X, Vidal R, Vila S, Rodriguez-Frias F, Jardi R, Miravitlles M. Screening program for alpha-1 antitrypsin deficiency in patients with chronic obstructive pulmonary disease, using dried blood spots on filter paper. Arch Bronconeumol. 2003;39(1):8-12.
  • Miravitlles M, Vilà S, Torrella M, Balcells E, Rodríguez-Frías, de la Roza C, Jardí R, Vidal R. Influence of deficient alpha-1-antitrypsin phenotypes on clinical characteristics and severity of asthma in adults. Respir Med 2002; 96: 186-192.
  • Rodríguez F, Jardí R, Costa X, Cotrina M, Galimany R, Vidal R, Miravitlles M. Rapid screening for alpha-1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood spots. Am J Respir Crit Care Med 2002; 166: 814-817.
  • Luisetti M, Miravitlles M, Stockley RA. Alpha-1-antitrypsin deficiency: a report from the 2nd meeting of the Alpha One International Registry, Rapallo (Genoa, Italy), 2001. Eur Respir J 2002; 20: 1050-1056.
  • Jardí R, Rodríguez-Frías F, Lopez-Talavera JC, Miravitlles M, Cotrina M, Costa X, Pascual C, Vidal R. Characterization of the new alpha-1-antitrypsin deficient PI M-type allele, PI Mvall d’hebron (Pro369-Ser). Human Hered 2000; 50; 320-321.
  • Costa X, Jardí R, Rodríguez F, Miravitlles M, Cotrina M, Pascual C, Vidal R. Easy method for screening dried blood spot specimens on filter paper for alpha-1 antitrypsin deficiency. Eur Respir J 2000; 15: 1111-1115.
  • Miravitlles M. Alpha-1-antitrypsin deficiency: epidemiology and prevalence. Respir Med 2000; 94 (Suppl C): S12-S15.
  • Blanco I, Bustillo EF, Rodríguez MC. a1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys. (In press)
  • Blanco I, Bustillo EF, Rodríguez MC. Distribution of a1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis. Clin Genet 2001; 60: 000-000 (In press). Received 31 July 2001; revised and accepted for publication 26 September 2001
  • Miravitlles M, de Gracia J, Rodrigo MJ, Cruz MJ, Vendrell M, Vidal R, Morell F. Specific antibody response against the 23-valent pneumococcal vaccine in patients with alpha-1-antitrypsin deficiency with and without bronchiectasis. Chest 1999; 116: 946-952.
  • Miravitlles M, Vidal R, Barros-Tizón JC, Bustamante A, España PP, Casas F, Martínez MT, Escudero C, Jardí R. Estado actual del tratamiento sustitutivo en el enfisema congénito por déficit de alfa-1-antitripsina. Informe del registro nacional. Arch Bronconeumol 1999; 35: 446-454.
  • Blanco I, Fernández E, Rodríguez MC, Fernández A. Frecuencias alélicas del gen de la alfa-1-antitripsina en la población general de una comarca de Asturias. Med Clin (Barc) 1999; 133: 366-370.
  • Miravitlles M, Vidal R, Barros-Tizón JC, Bustamante A, España PP, Casas F, Martínez MT, Escudero C, Jardí R. Usefulness of a national Registry of alpha-1-antitrypsin deficiency. The Spanish experience. Respir Med 1998; 92: 1181-1187.
  • Vidal R, Miravitlles M y Grupo de Estudio del déficit de alfa-1-antitripsina. Informe del Registro Español de Pacientes con déficit de alfa-1-antitripsina. Arch Bronconeumol 1995; 31: 299 -302.

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