Results 51 to 60 of about 21,650,506 (229)

Diagnosis of alpha-1 antitrypsin deficiency: a population-based study [PDF]

, 2016
Miriam Barrecheguren,1,2 Mónica Monteagudo,3 Pere Simonet,3–5 Carl Llor,6 Esther Rodriguez,1,7 Jaume Ferrer,1,2,7 Cristina Esquinas,1 Marc Miravitlles1,2,7 1Department of Pneumology, Vall d´Hebron University Hospital, 2Medicine ...
Llor C, Ferrer J, Barrecheguren M, Esquinas C, Monteagudo M, Miravitlles M, Rodriguez E, Simonet P   +7 more
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Generation and characterisation of transgenic zebrafish expressing human alpha-1-antitrypsin [PDF]

, 2017
The Z variant of α1-antitrypsin (Z-AAT) is the most common “severe” deficiency allele of α1-antitrypsin. It affects approximately 2% to 5% of Caucasians of European descent [1-3].
Yip, Evelyn Lai Si (3770644)
core   +1 more source

Long-term augmentation therapy with Alpha-1 Antitrypsin in an MZ-AAT severe persistent asthma

Monaldi Archives for Chest Disease, 2016
A young Caucasian female with severe bronchial asthma and Alpha1-antitrypsin (AAT) deficiency, MZ phenotype, experienced a quick and severe limitation of her physical capacity, which negatively affected her psychological state and social life, though she
I. Blanco, H. Canto, J. Flóres, C. Camblor, V. Cárcaba, F.J. de Serres, S. Janciauskiene, E.F. Bustillo   +7 more
doaj   +1 more source

Individualized lung function trends in alpha-1-antitrypsin deficiency: a need for patience in order to provide patient centered management? [PDF]

, 2016
Robert A Stockley,1 Ross G Edgar,1 Anilkumar Pillai,1 Alice M Turner2 1Department of Lung Function and Sleep, University Hospitals Birmingham NHS Foundation Trust, 2Department of Inflammation and Ageing, University of Birmingham, Edgbaston, Birmingham ...
Edgar RG, Pillai A, Turner AM, Stockley RA   +3 more
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Variants of alpha-1-antitrypsin [PDF]

, 2023
Provided are variants of alpha-1-antitrypsin comprising mutations which render the variants oxidation- as well as protease-resistant, polynucleotides encoding said variants, methods of producing the variants and the variants for use in the treatment of ...
Schoffelen, Sanne, Voldborg, Bjørn Gunnar, McElvaney, Gerry   +2 more
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Human iPSC-hepatocyte modeling of alpha-1 antitrypsin heterozygosity reveals metabolic dysregulation and cellular heterogeneity [PDF]

, 2022
Individuals homozygous for the “Z” mutation in alpha-1 antitrypsin deficiency are known to be at increased risk for liver disease. It has also become clear that some degree of risk is similarly conferred by the heterozygous state. A lack of model systems
Kaserman, Joseph E., Hinds, Anne, Anne Hinds, Joseph E. Kaserman, Brunetti-Pierri, Nicola, Nicola Brunetti-Pierri, Rhiannon B. Werder, Gerszten, Robert E, Hollenberg, Anthony N, Wilson, Andrew A, Ignacio S. Caballero, Villacorta-Martin, Carlos, Anthony N. Hollenberg, Kaserman, Joseph E, Andrew A. Wilson, Kotton, Darrell N., Mark Dodge, Caballero, Ignacio S, Shi, Xu, Higgins, Michelle I., Taylor Matte, Darrell N. Kotton, Dodge, Mark, Gerszten, Robert E., Feiya Wang, Matte, Taylor, Carlos Villacorta-Martin, Liesa, Marc, Bawa, Pushpinder, Werder, Rhiannon B, Caballero, Ignacio, Caballero, Ignacio S., Esther Bullitt, Werder, Rhiannon B., Hollenberg, Anthony N., Pushpinder Bawa, Marc Liesa, Lindstrom-Vautrin, Jonathan, Wilson, Andrew A., Michelle I. Higgins, Higgins, Michelle I, Xu Shi, Bullitt, Esther, Jonathan Lindstrom-Vautrin, Wang, Feiya, Kotton, Darrell N, Robert E. Gerszten   +46 more
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Multimodal MRI and multiomics reveal high‐risk neurophenotype in brain‐gut circuits as therapeutic target for Crohn's disease

Interdisciplinary Medicine, EarlyView.
Through a translational framework combining prospective dual‐center clinical cohorts with dextran sulfate sodium‐induced colitis models, this work integrated advanced neuroimaging, multi‐omics and neuromodulation interventions to redefine the high‐risk neurophenotype as a sustained pathogenic driver rather than a mere phenomenon, proposing brain‐gut ...
Xuehua Li, Ruonan Zhang, Xiaodi Shen, Shaochun Lin, Chuhuai Wang, Weikai Zheng, Weimiao Kong, Zihao Lin, Rongchang Li, Caiguang Liu, Xin Cao, Li Huang, Weitao He, Jinjiang Lin, Haijie Wang, Zhoulei Li, Marietta Iacucci, Subrata Ghosh, Zhenpeng Peng, Canhui Sun, Minhu Chen, Guang Yang, Yejun Wang, Ren Mao, Shi‐Ting Feng   +24 more
wiley   +1 more source

The first report of two cases of fatal liver injury due to anti-tuberculosis drugs in the presence of alpha-1 antitrypsin deficiency

International Journal of Mycobacteriology, 2017
Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation.
Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki   +3 more
doaj   +1 more source

Multi‐omics biomarkers for intestinal infection and inflammation in inflammatory bowel disease: Current evidence, translational challenges, and diagnostic opportunities

Interdisciplinary Medicine, EarlyView.
Prospective multi‐site cohorts, multi‐omics profiling, and computational analysis may help identify biomarker patterns across clinical settings in IBD and superimposed infections. With further mechanistic and clinical validation, these signals could support the development of practical multi‐analyte tools for more precise diagnosis and management ...
Ziyu Yang, Jiayi Yao, Xinxian Zhao, Yan Xu, Yifan Chen, Tianchi Chen, Ying Jian, Min Li   +7 more
wiley   +1 more source

Deficiency of α-1-antitrypsin influences systemic iron homeostasis [PDF]

, 2013
Andrew J Ghio,1 Joleen M Soukup,1 Judy H Richards,1 Bernard M Fischer,2 Judith A Voynow,2 Donald E Schmechel31US Environmental Protection Agency, Chapel Hill, NC, USA; 2Division of Pediatric Pulmonary Medicine, Department of Pediatrics,3Joseph and ...
Soukup JM, Voynow JA, Fischer BM, Richards JH, Schmechel DE, Ghio AJ   +5 more
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