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ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN
Медицинский совет, 2017 Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation.S. I. MELNIK, M. V. PINEVSKAYA, E. A. ORLOVA, S. V. STAREVSKAYA, I. Y. MELNIKOVA, V. I. LARIONOVA +5 moredoaj +3 more sourcesAlpha 1 Antitrypsin Therapy in Patients with Alpha 1 Antitrypsin Deficiency: Perspectives from a Registry Study and Practical Considerations for Self-Administration During the COVID-19 Pandemic [PDF]
International Journal of COPD, 2021 Felix JF Herth,1 Robert A Sandhaus,2 Alice M Turner,3 Maria Sucena,4 Tobias Welte,5 Timm Greulich6 1Department of Pneumology and Critical Care Medicine, University of Heidelberg, Heidelberg, Germany; 2Division of Pulmonary, Critical Care and Sleep ...Herth FJF, Sandhaus RA, Turner AM, Sucena M, Welte T, Greulich T +5 moredoaj +2 more sourcesThe impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals
Journal of Inflammation Research, 2018 Danielle M Dunlea, Laura T Fee, Thomas McEnery, Noel G McElvaney, Emer P Reeves Irish Centre for Genetic Lung Disease, Department of Medicine, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland Abstract: Alpha-1 antitrypsin (AAT) is Dunlea DM, Fee LT, McEnery T, McElvaney NG, Reeves EP +4 moredoaj +1 more sourceAlpha-1 Antitrypsin Deficiency: Principles of Care
Acta Médica Portuguesa, 2020
Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and ...Joana F. Rodrigues, Alexandra Mineiro, António Reis, David G. Ventura, Fernando Fernandez-Llimos, Filipa Costa, Joana Gomes, José Manuel Silva, Paulo Lopes, Carlos Robalo Cordeiro +9 moredoaj +1 more sourceCausal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels [PDF]
, 2013 Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsin (AAT) in the blood.Marjo-Riitta Jarvelin, Kronenberg, F, Ma'en Obeidat, M. Dahl, Gian Andri Thun (449467), Caroline Hayward (149856), Ferrarotti, Ilaria, I. J. Deary (7620122), Ma'en Obeidat (110232), J. F. Wilson, Gyllensten, U, B. G. Nordestgaard (7605362), Tobin, MD, Thierry Rochat, Igor Rudan (150101), Y. Bossé (7628753), Alexander Teumer (112757), Ferrarotti, I, Børge G. Nordestgaard (89871), H. Schulz (3516554), Andrew J. Sandford (301863), M. Imboden (3809185), L. M. Lopez (7628747), C. Hayward (7609304), J. Hui (6291092), Obeidat, Ma'en, Huffman, JE, M. Jarvelin, M. D. Tobin, Strachan, David P, O. Polasek, Bossé, Y, Schulz, H, M. Zorzetto (7628732), Huffman, Jennifer E., Hui, J., A. Kumar (664258), A. J. Sandford (7628759), Ian J. Deary (107724), Haun, M., Reischl, E., Hayward, C., Victoria E. Jackson (449468), Alexessander Couto Alves, A. Teumer (7609454), Thun, Gian Andri, J. S. Ried, Nordestgaard, Borge G, Sandford, Andrew J., Fallgaard Nielsen, S., E. W. Russi, Haun, M, S. Enroth, K. Hao (7628756), M. Obeidat, T. Rochat, Probst-Hensch, Nicole M, M. Obeidat (7628729), J. F. Wilson (7605311), I. Curjuric (3809209), E. Albrecht, Timens, Wim, Deary, Ian J, E. Reischl, Kronenberg, Florian, Timens, W., Enroth, S., Ozren Polasek, David P Strachan, Imboden, M., Reischl, E, Couto Alves, A., S. Fallgaard Nielsen (7628780), Nordestgaard, Børge G., Ashish Kumar (152984), Holger Schulz (13022), Haun, Margot, Jarvelin, Marjo-Riitta, Andrew J Sandford, Beate Koch (110151), D. P. Strachan (3809152), M. Dahl (7628777), Janina S Ried, S. F. Nielsen, Koch, B., T. Rochat (7628768), Ian P. Hall (110307), Lopez, Lorna M., Kumar, A, Zorzetto, M., Morten Dahl (250510), Curjuric, I., K. Hao, Enroth, Stefan,, Curjuric, Ivan, Luisetti, M, James, A.L., B. Koch (3565709), Jennifer E Huffman, Ke Hao (50181), Rochat, T, N. M. Probst Hensch, Gyllensten, Ulf,, I. Rudan, Strachan, David P., Jarvelin, M.R., Enroth, Stefan, Jennifer E. Huffman (220403), Florian Kronenberg (87557), Maurizio Luisetti (142908), Nielsen, Sune Fallgaard, Michele Zorzetto (142902), Alan L. James (174634), Wilson, J.F., Jackson, VE, M. Luisetti (7628783), Obeidat, M., Couto Alves, A, James, Alan L, Lorna M Lopez, Stefan Enroth (189126), Florian Kronenberg, Deary, IJ, Dahl, Morten, Ashish Kumar, Bossé, Y., Erich W. Russi (142906), Lopez, L.M., Timens, W, Alan L James, Imboden, Medea, Ried, Janina S, Gyllensten, U., I. Curjuric, Schulz, Holger, Wim Timens (41871), Ried, J.S., Enroth, S, Luisetti, Maurizio, I. Rudan (7609409), A. J. Sandford, James F Wilson, Ivan Curjuric (110179), Wilson, James F; id_orcid, J. S. Ried (7628744), Huffman, Jennifer E, E. W. Russi (7628771), Morten Dahl, Probst-Hensch, NM, G. A. Thun (7628723), Medea Imboden (110145), Y. Bossé, Sune Fallgaard Nielsen (449470), Teumer, Alexander, Tobin, M.D., Gian Andri Thun, Kronenberg, F., Caroline Hayward, C. Hayward, Eva Albrecht (174584), Børge G Nordestgaard, Albrecht, E., I. P. Hall, Fallgaard Nielsen, Sune, Luisetti, M., U. Gyllensten, Bosse, Yohan, Deary, I.J., L. M. Lopez, Eva Reischl (449469), Russi, Erich W., E. Reischl (7628762), F. Kronenberg, Ulf Gyllensten, Margot Haun (102627), Strachan, D.P., Probst-Hensch, Nicole M., M. Haun, Hao, Ke, I. J. Deary, Jackson, Victoria E, Erich W Russi, Hall, Ian P, Rochat, Thierry, Hall, I.P., James, AL, Wilson, James, Rudan, Igor, Nicole M. Probst-Hensch (110284), Medea Imboden, Ivan Curjuric, Huffman, J.E., Jackson, V.E., Nordestgaard, BG, Ilaria Ferrarotti (142893), W. Timens, Curjuric, I, B. G. Nordestgaard, M. R. Jarvelin (7611464), Lorna M. Lopez (107685), Fallgaard Nielsen, S, Ferrarotti, I., Victoria E Jackson, J. Hui, Wilson, James F, Hayward, Caroline, A. Couto Alves (7628738), Thun, G.A., Lopez, LM, Koch, B, Jennie Hui, M. Haun (7628735), Hao, K, Sandford, AJ, Michele Zorzetto, Gyllensten, Ulf, Ke Hao, Ian J Deary, Tobin, Martin D, D. P. Strachan, Rochat, T., Reischl, Eva, Probst-Hensch, N.M., A. L. James (7628765), Alexessander Couto Alves (131470), Jennie Hui (220409), Hao, K., Kumar, Ashish, Dahl, M., Eva Albrecht, V. E. Jackson, Sune Fallgaard Nielsen, S. Enroth (7626632), V. E. Jackson (7628741), Teumer, A., Maurizio Luisetti, O. Polasek (7609424), Martin D Tobin, Marjo-Riitta Jarvelin (110290), A. Teumer, Jackson, Victoria E., Wim Timens, Nordestgaard, Børge G, U. Gyllensten (7612145), James F. Wilson (150146), Imboden, M, A. L. James, Hui, Jennie, Teumer, A, Nordestgaard, Borge G., Zorzetto, Michele, Ian P Hall, Nicole M Probst-Hensch, Polasek, Ozren, Hui, J, Alexander Teumer, H. Schulz, Sandford, Andrew J, Polasek, O., Jarvelin, MR, N. M. Probst-Hensch (7628786), Ried, Janina S., Ried, JS, Russi, Erich W, Albrecht, E, Hall, IP, A. C. Alves, Koch, Beate, David P. Strachan (110302), Stefan Enroth, B. Koch, Margot Haun, Gibson, Greg, J. E. Huffman, Russi, E.W., G. A. Thun, Obeidat, M, Rudan, I., Schulz, H., Wilson, JF, Russi, EW, Lopez, Lorna M, A. Kumar, Alves, Alexessander Couto, Wilson, James F., Rudan, I, Holger Schulz, F. Kronenberg (7611272), Dahl, M, E. Albrecht (7612112), Ulf Gyllensten (13773), Couto Alves, Alexessander, Deary, Ian J., Beate Koch, Ozren Polasek (3965693), Kumar, A., Thun, GA, Nørdestgaard, B.G., Thierry Rochat (110261), Albrecht, Eva, J. E. Huffman (7628750), Zorzetto, M, Hayward, C, Yohan Bossé (69571), Sandford, A.J., Ilaria Ferrarotti, Hall, Ian P., M. D. Tobin (7602575), Tobin, Martin D., I. Ferrarotti (7628726), James, Alan L., Strachan, DP, Yohan Bossé, Hayward, Caroline; id_orcid, Timens, Wim; id_orcid, W. Timens (3948230), Martin D. Tobin (110311), Polasek, O, M. Zorzetto, M. Imboden, Igor Rudan, Eva Reischl, Janina S. Ried (200003), I. P. Hall (7628774) +323 morecore +1 more sourceStructural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency
Frontiers in Molecular Biosciences, 2022 Background: Alpha-1 antitrypsin deficiency (A1ATD) is a progressive lung disease caused by inherited pathogenic variants in the SERPINA1 gene. However, their actual role in maintenance of structural and functional characteristics of the corresponding α-1 Noor Ahmad Shaik, Noor Ahmad Shaik, Najla Bint Saud Al-Saud, Thamer Abdulhamid Aljuhani, Kaiser Jamil, Huda Alnuman, Deema Aljeaid, Nasreen Sultana, Ashraf AbdulRahman El-Harouni, Zuhier Ahmed Awan, Zuhier Ahmed Awan, Ramu Elango, Ramu Elango, Babajan Banaganapalli, Babajan Banaganapalli +14 moredoaj +1 more sourceMineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
Orphanet Journal of Rare Diseases, 2018 Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio +10 moredoaj +1 more source
