Results 41 to 50 of about 8,184 (185)
Low Prevalence of Mild Alpha-1-Antitrypsin Deficiency in Hospitalized COVID-19-Patients
International Journal of General Medicine, 2022 David Nygren,1 Ulrica Mölstad,2 Hans Thulesius,2– 4 Magnus Hillman,5,6 Lars Mikael Broman,7,8 Hanan Tanash,9,10 Mona Landin-Olsson,5,6 Magnus Rasmussen,1 Maria Thunander2,6,11 1Division of Infection Medicine, Department of Clinical Sciences, Lund ...Nygren D, Mölstad U, Thulesius H, Hillman M, Broman LM, Tanash H, Landin-Olsson M, Rasmussen M, Thunander M +8 moredoaj The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS
American Journal of Respiratory and Critical Care Medicine, 2020 Abstract Rationale The role of PI (protease inhibitor) type Z heterozygotes and additional rare variant genotypes in the gene encoding alpha-1 antitrypsin, SERPINA1 (serpin peptidase inhibitor, clade A, member 1), in determining chronic obstructive pulmonary disease risk and severity is ...Ortega, Victor E, Li, Xingnan, O’Neal, Wanda K, Lackey, Lela, Ampleford, Elizabeth, Hawkins, Gregory A, Grayeski, Philip J, Laederach, Alain, Barjaktarevic, Igor, Barr, R Graham, Cooper, Christopher, Couper, David, Han, MeiLan K, Kanner, Richard E, Kleerup, Eric C, Martinez, Fernando J, Paine, Robert, Peters, Stephen P, Pirozzi, Cheryl, Rennard, Stephen I, Woodruff, Prescott G, Hoffman, Eric A, Meyers, Deborah A, Bleecker, Eugene R, Alexis, Neil E, Anderson, Wayne H, Arjomandi, Mehrdad, Bateman, Lori A, Bhatt, Surya P, Boucher, Richard C, Bowler, Russell P, Christenson, Stephanie A, Comellas, Alejandro P, Criner, Gerard J, Crystal, Ronald G, Curtis, Jeffrey L, Doerschuk, Claire M, Dransfield, Mark T, Freeman, Christine M, Galban, Craig, Hansel, Nadia N, Hastie, Annette T, Huang, Yvonne, Kaner, Robert J, Krishnan, Jerry A, LaVange, Lisa M, Lazarus, Stephen C, Moore, Wendy C, Paulin, Laura, Putcha, Nirupama, Oelsner, Elizabeth C, Raman, Sanjeev, Tashkin, Donald P, Wells, J Michael, Wise, Robert A +54 moreopenaire +5 more sourcesA Comprehensive Evaluation of Potential Lung Function Associated Genes in the SpiroMeta General Population Sample [PDF]
, 2011 Rationale: Lung function measures are heritable traits that predict population morbidity and mortality and are essential for the diagnosis of chronic obstructive pulmonary disease (COPD). Variations in many genes have been reported to affect these traits,Shrine, Nick, McArdle, W. L., Caroline Hayward (149856), Zaboli, Ghazal, Sayers, Ian, Anneli Pouta, Surakka, I., Palmer, L.J., Igor Rudan (150101), Mangino, M., Ruth J. F. Loos, Nicholas J Wareham (7665416), Zgaga, Lina, Elliott, Paul, Zhai, G., David Hadley (220412), Rudnicka, AR, Joachim Heinrich (60421), Huffman, J., Huffman, JE, Wilmar Igl (149869), Rudnicka, Alicja R., Huffman, Jennifer E., Kaprio, Jaakko, Lina Zgaga (149875), Stipan Jankovic, Ozren Polašek (149888), Glaeser, S, Loos, Ruth J F, Heinrich, Joachim, David M. Evans, Jennifer E. Huffman (7665404), Probst-Hensch, Nicole M, Palmer, Lyle J., Johansson, Asa, Paul R. Burton (7581164), Martin D. Tobin, Paul R. Burton, Evans, DM, Wild, SH, David P Strachan, Louise V. Wain (7588511), Igl, W., Imboden, M., Hartikainen, Anna-Liisa, Jarvelin, Marjo-Riitta, Surakka, Ida, Consortium, SM, Koch, B., Wright, Alan F, Louise V Wain, Tim D. Spector (7588592), Homuth, G, Linda Mustelin (220425), Gyllensten, Ulf,, Campbell, Harry; id_orcid, Granell, Raquel, Strachan, David P., Jarvelin, M.R., Henry Völzke (64286), Zhao, J.-H., Johnson, T, Ramasamy, A, Lyle J. Palmer (7665407), Taina Rantanen, Johnson, T., ?, ?, Zhao, Jing Hua, Arthur William Musk (7665422), Repapi, Emmanouela, et al., Ida Surakka (120325), Imboden, Medea, Gyllensten, U., Grkovic, I., Obeidat, Ma’en, Nick Shrine (220391), Vitart, Veronique, Ruth J.F. Loos (7665413), Johansson, Åsa,, Nick Shrine, Ghazal Zaboli, Musk, AW, Huffman, Jennifer E, Probst-Hensch, NM, Maria Soler Artigas (7634069), Wright, A.F., Hadley, D., Tobin, M.D., Nicole M. Probst-Hensch (7634162), Stipan Jankovic (220423), Ozren Polašek, Loos, Ruth J.F., Eva Albrecht (174584), Wareham, N.J., Mangino, M, Guangju Zhai (110167), Ulf Gyllensten, Ian P. Hall (7377620), Probst-Hensch, Nicole M., Nicholas J Wareham, Alan F. Wright, Hartikainen, A.-L., Nicholas J. Wareham, Hall, I.P., Loos, Ruth J. F., Soler Artigas, M., Artigas, M.S., Burton, P.R, Zgaga, L, Johansson, Å, Tim D Spector, Medea Imboden, Hall, I. P., Wain, Louise V., Raquel Granell, Raquel Granell (123318), Ida Surakka, Henderson, John, Jankovic, S, Loos, RJF, Jennifer E. Huffman, McArdle, Wendy L., Wilson, James F, Loos, R. J. F., Palmer, Lyle J, Koch, B, Jennie Hui, Palmer, L., Gyllensten, Ulf, Kalsheker, N., Völzke, H, Paul Elliott, Artigas, Maria Soler, Probst-Hensch, N.M., Homuth, G., Deloukas, P., Eva Albrecht, Henderson, J, Rantanen, T., Jankovic, S., Wright, AF, Glaser, Sven, Toby Johnson, Palmer, LJ, Zaboli, G, Martin D Tobin, Marjo-Riitta Jarvelin (110290), Wareham, N. J., Zgaga, L., Wareham, NJ, Wright, Alan F., Toby Johnson (43283), Polaek, O., Anna-Liisa Hartikainen, Nicole M Probst-Hensch, Polasek, Ozren, Ruth J F Loos, Polasek, O., Jarvelin, MR, Jankovic, Stipan, Adaikalavan Ramasamy, Louise V. Wain, Jing Hua Zhao, Wild, Sarah H; id_orcid, Hall, IP, Huffman, J. E., Homuth, Georg, Wild, Sarah H, Deloukas, Panos, Harry Campbell (30339), Obeidat, M, Wareham, Nicholas J., Grkovic, Ivica, Rudan, I., Musk, A.W., Barroso, Ines, Burton, P. R., Alicja R. Rudnicka (7665410), Tim D. Spector, Wilson, James F., Sven Gläser, Maria Soler Artigas, Ulf Gyllensten (13773), Zhao, J.H., Zhao, JH, SpiroMeta Consortium, Hartikainen, A. L., Shrine, N, Vitart, V, Alicja R. Rudnicka, Zhao, J. H., Evans, David M., Hayward, C, Voelzke, Henry, Igl, W, Wilmar Igl, Panos Deloukas (21564), Lina Zgaga, Strachan, DP, Repapi, E, Hadley, David, Elliott, P., Polašek, O, Spector, TD, Palmer, L. J., Wain, L., Igor Rudan, Ivica Grkovic, Ramasamy, A., Marjo-Riitta Jarvelin, Ma'en Obeidat, Evans, D.M., Igl, Wilmar,, Panos Deloukas, Ma'en Obeidat (110232), Adaikalavan Ramasamy (4841), Hartikainen, A.L., Massimo Mangino (87550), Inês Barroso (2144), Gyllensten, U, Strachan, D. P., Henry Völzke, Tobin, MD, Wain, LV, Jaakko Kaprio (43154), Deloukas, P, Anneli Pouta (116626), Mustelin, L., Obeidat, Ma'en, Hui, J., SpiroMeta Consortium,, Spector, T. D., Hayward, C., Campbell, H, Campbell, Harry, Rudnicka, A.R., SpiroMeta Consortium (), Alicja R Rudnicka, Wright, A. F., Probst-Hensch N. M.,, Burton, Paul R., Cadby, Gemma, Noor Kalsheker, Gläser, S., Heinrich, J., Soranzo, N, Ramasamy, Adaikalavan, Sven Gläser (110276), Wain, L. V., Spector, Tim D., Zhai, G, Emmanouela Repapi, Kaprio, J., Åsa Johansson, Hartikainen, AL, Beate Koch (110151), Rantanen, Taina, Linda Mustelin, Pouta, Anneli, David P. Strachan, Wareham, Nicholas J, Georg Homuth (110202), Tobin, M. D., Barroso, I., Jennifer E Huffman, SpiroMeta Consortium (220429), Guangju Zhai, Artigas, MS, Noor Kalsheker (220393), Musk, A. W., Soler Artigas M.,, Alan F. Wright (7665419), John Henderson (123324), Jarvelin, M-R, Wilson, J.F., Obeidat, M., Grkovic, I, Jing Hua Zhao (7634084), Soranzo, N., Burton, P., Mangino, Massimo, Pouta, A., Rudnicka, A. R., Zaboli, Ghazal,, Völzke, Henry, Lyle J Palmer, Ghazal Zaboli (174959), Granell, R., Campbell, H., Hadley, D, Heinrich, J, Wild, S.H., Gemma Cadby (174601), Martin D. Tobin (7581161), Cadby, G, Zhai, Guangju, Jarvelin, M. R., James F Wilson, Wilson, James F; id_orcid, Zaboli, G., Kaprio, J, Alan F Wright, Massimo Mangino, Medea Imboden (110145), Caroline Hayward, Albrecht, E., Harry Campbell, Wendy L. McArdle, Strachan, D.P., Surakka, I, Musk, Arthur William, Cadby, G., Wain, L.V., Arthur William Musk, Veronique Vitart, Taina Rantanen (200021), Shrine, N., Sarah H. Wild (7512197), Pouta, A, Rudan, Igor, Nicole Soranzo (12361), Huffman, J.E., Mustelin, Linda, Soler Artigas, Maria, Rantanen, T, Åsa Johansson (84687), Veronique Vitart (149854), David P. Strachan (7634177), Nicole M. Probst-Hensch, McArdle, W.L., James F. Wilson (7638917), Inês Barroso, Wilson, J. F., Gläser, S, Burton, Paul R, Sarah H. Wild, Soranzo, Nicole, Hayward, Caroline, Gemma Cadby, Evans, D. M., Völzke, H., Johnson, Toby, Sayers, I., Elliott, P, Wendy L. McArdle (7634075), Igl, Wilmar, Wild, S. H., Burton, PR, Voelzke, H, Emmanouela Repapi (220397), Jennie Hui (220409), Kalsheker, Noor, Nicole Soranzo, McArdle, Wendy L, David M Evans, Lyle J. Palmer, Loos, RJ, Glaeser, Sven, Spector, Tim D, Sarah H Wild, Johansson, A., Imboden, M, Ian Sayers, Hui, Jennie, Ian P Hall, Hui, J, Granell, R, Cadby,Gemma, Henderson, J., McArdle, WL, Soler Artigas, M, Barroso, I, Sayers, I, Albrecht, E, Hartikainen, A-L, Koch, Beate, Ian P. Hall, Georg Homuth, Paul R Burton, Kalsheker, N, John Henderson, Spector, T.D., Jaakko Kaprio, James F. Wilson, Ivica Grkovic (220420), Wilson, JF, Mustelin, L, Repapi, E., Loos, R.J., Rudan, I, David Hadley, Wild, Sarah H., Beate Koch, David M. Evans (7190417), Vitart, V., Ian Sayers (37266), Joachim Heinrich, Paul Elliott (27295), Albrecht, Eva, Hall, Ian P., Tobin, Martin D., Hayward, Caroline; id_orcid, Wain, Louise V, Rudnicka, Alicja R, Wendy L McArdle, Anna-Liisa Hartikainen (110272) +406 morecore +1 more sourceSerpinA1 levels in amyotrophic lateral sclerosis patients: An exploratory study
European Journal of Neurology, 2023 AbstractBackgroundSerpinA1, a serine protease inhibitor, is involved in the modulation of microglial‐mediated inflammation in neurodegenerative diseases. We explored SerpinA1 levels in cerebrospinal fluid (CSF) and serum of amyotrophic lateral sclerosis (ALS) patients to understand its potential role in the pathogenesis of the disease.MethodsSerpinA1 ...Martinelli, Ilaria, Zucchi, Elisabetta, Simonini, Cecilia, Gianferrari, Giulia, Bedin, Roberta, Biral, Chiara, Ghezzi, Andrea, Fini, Nicola, Carra, Serena, Mandrioli, Jessica +9 moreopenaire +2 more sourcesThe Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis
International Journal of COPD, 2020 Martina Veith,1 Julia Tüffers,1 Erika Peychev,1 Andreas Klemmer,1 Viktor Kotke,1 Sabina Janciauskiene,2 Susanne Wilhelm,1 Robert Bals,3 Andreas Rembert Koczulla,4 Claus Franz Vogelmeier,1 Timm Greulich1 1Department of Medicine, Pulmonary and ...Veith M, Tüffers J, Peychev E, Klemmer A, Kotke V, Janciauskiene S, Wilhelm S, Bals R, Koczulla AR, Vogelmeier CF, Greulich T +10 moredoaj Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul +9 morewiley +1 more sourceProteomic signatures of equine dental tooth tissues in ageing and disease
Equine Veterinary Journal, EarlyView.Abstract Background
Ageing and dental disease in horses lead to structural and functional deterioration of dental tissues, yet their molecular signatures remain poorly characterised. Understanding how these processes alter the protein composition of enamel, dentin, cementum and pulp is essential for improving equine oral health and identifying ...Anders Jensen, Danae Emilie Zambouli, Iris Gringel, Zoe Nugent, Kazuhiro Yamamoto, Lee Cooper, Andrew J. Peffers, Guido Rocchigiani, Mandy J. Peffers +8 morewiley +1 more source
