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The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes
European Respiratory Journal, 2020 Alpha-1 antitrypsin deficiency (AATD), mainly due to the PI*ZZ genotype in SERPINA1, is one of the most common inherited diseases. Since it is associated with a high disease burden and partially prevented by smoking cessation, identification of PI*ZZ ...T. Nakanishi, Vincenzo Forgetta, T. Handa, T. Hirai, V. Mooser, G. Lathrop, W. Cookson, J. B. Richards +7 moresemanticscholar +1 more sourcePROINFLAMMATORY CYTOKINE PROFILE IN PATIENTS WITH DIFFERENT ALPHA-1-ANTITRYPSIN PHENOTYPES
Медицинская иммунология, 2016 Alpha-1-antitrypsin (A1AT) exerts a wide spectrum of protective effects, being focused on reduction of secondary injury in inflammation. Moreover, A1AT inhibits some serine proteases, and down-regulates production of proinflammatory cytokines.M. Yu. Pervakova, S. V. Lapin, E. A. Surkova, O. Yu. Tkachenko, A. I. Budkova, V. I. Guseva, O. N. Titova, V. L. Emanuel, Areg A. Totolian +8 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 sourceA Review of Alpha-1 Antitrypsin Deficiency
Seminars in Respiratory and Critical Care Medicine, 2005 Alpha-1 antitrypsin (AAT) is a protein that prevents enzymes such as elastin from degrading normal host tissue. Individuals who are deficient in AAT (those with levels < 11 micromol/L) are at risk for developing such clinical manifestations as emphysema, cirrhosis, panniculitis, and anticytoplasmic neutrophilic antibody (C-ANCA)-positive vasculitis ...Justin, Ranes, James K, Stolleropenaire +4 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
Seminars in Liver Disease, 1998 Homozygous PIZZ alpha 1-antitrypsin deficiency, which has an incident of 1 in 1600 to 1 in 2000 live births, is the most common genetic cause of liver disease in children. It is also associated with chronic liver disease and hepatocellular carcinoma in adults. It is a well-known cause of pulmonary emphysema.Paone G, Brantly M.openaire +5 more sourcesAlpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression
Respiratory Medicine Case Reports, 2018 Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis.Here we report a ...Zineb Jouhadi, Marie Francoise Odou, Farid Zerimech, Ahmed Aziz Bousfiha, Nabiha Mikou, Nicole Porchet, Michel Crepin, Jilali Najib, Malika Balduyck +8 moredoaj +1 more source
