Results 21 to 30 of about 18,796 (222)
Causal 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 sourceClinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes
PulmonologyAlpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on ...Ilaria Ferrarotti, Davide Piloni, Asia Filosa, Stefania Ottaviani, Valentina Barzon, Alice Maria Balderacchi, Luciano Corda, Christine Seebacher, Sara Magni, Francesca Mariani, Paolo Baderna, Paola Confalonieri, Leonardo Iannacci, Silvia Mancinelli, Paola Putignano, Carlo Albera, Giulia Maria Stella, Maria Cristina Monti, Angelo Guido Corsico +18 moredoaj +1 more source
