Results 81 to 90 of about 15,020 (214)

Alpha-1-antitrypsin deficiency

, 2021
The subject of this review is alpha-1-antitrypsin deficiency (A1AD), which is a rare hereditary disease with great impact in adults, especially smokers, quality of life and longevity. Early diagnosis is crucial for treatment outcome.
Jensen, Jens-Ulrik, de Vos, Jesper Dichmann, Wilcke, Jon Torgny, Løkke, Anders, Hillberg, Ole, Perch, Michael   +5 more
core  

Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

Pulmonology
Introduction and objectives Asthma is a chronic inflammatory disease of the airways. Asthma patients may experience potentially life-threatening episodic flare-ups, known as exacerbations, which may significantly contribute to the asthma burden. The Pi*S
Elena Martín-González, José M. Hernández-Pérez, José A. Pérez Pérez, Javier Pérez-García, Esther Herrera-Luis, Ruperto González-Pérez, Orelvis González-González, Elena Mederos-Luis, Inmaculada Sánchez-Machín, Paloma Poza-Guedes, Olaia Sardón, Paula Corcuera, María J. Cruz, Francisco J. González-Barcala, Carlos Martínez-Rivera, Joaquim Mullol, Xavier Muñoz, José M. Olaguibel, Vicente Plaza, Santiago Quirce, Antonio Valero, Joaquín Sastre, Javier Korta-Murua, Victoria del Pozo, Fabián Lorenzo-Díaz, Jesús Villar, María Pino-Yanes, Mario A. González-Carracedo   +27 more
doaj   +1 more source

Mass Spectrometry Structural Proteomics Enabled by Limited Proteolysis and Cross‐Linking

Mass Spectrometry Reviews, Volume 45, Issue 4, Page 644-671, July/August 2026.
ABSTRACT The exploration of protein structure and function stands at the forefront of life science and represents an ever‐expanding focus in the development of proteomics. As mass spectrometry (MS) offers readout of protein conformational changes at both the protein and peptide levels, MS‐based structural proteomics is making significant strides in the
Haiyan Lu, Zexin Zhu, Lauren Fields, Hua Zhang, Lingjun Li   +4 more
wiley   +1 more source

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

, 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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Fecal Proteomics Suggest Potential Biomarkers for Non‐Alcoholic Fatty Liver Disease and Steatohepatitis

PROTEOMICS – Clinical Applications, Volume 20, Issue 4, July 2026.
ABSTRACT Background and aims Non‐alcoholic Fatty Liver Disease (NAFLD) affects about a quarter of the world's population. Liver biopsy remains the gold standard for diagnosing the progressive form of NAFLD called Non‐alcoholic Steatohepatitis (NASH) but it is invasive, prone to sampling errors and observer variability, and impractical for widespread ...
Anna Negroni, Luisa Pieroni, Noemi Fiaschini, Francesca Palone, Mariateresa Mancuso, Roberta Vitali   +5 more
wiley   +1 more source

Deficiency of α-1-antitrypsin influences systemic iron homeostasis

, 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
core  

Affinity Proteomics‐Based Non‐Invasive Detection of Clinically Significant Liver Disease

Alimentary Pharmacology &Therapeutics, Volume 64, Issue 1, Page 74-88, July 2026.
Using UK Biobank proteomic data, we identified a five‐protein score reflecting hepatic stellate cell activation and hepatocellular injury that predicts major adverse liver outcomes and clinically significant fibrosis, with consistent performance validated in two independent cohorts (patients with HIV and alpha1‐antitrypsin deficiency).
Sriram Balasubramani, Katharina Remih, Anna Sophie Karl, Julia Alexandra Borchert, Christina Schrader, Malin Fromme, Can Kayatekin, Bailin Zhang, Mikhail Levit, Pavithra Krishnaswami, Louise E. van Eekeren, Leo A. B. Joosten, Twan Otten, Petra Tomanová, Pavel Strnad   +14 more
wiley   +1 more source

The use of real-time PCR for the diagnosis of Z gene Pi mutation in patients with alpha-1 antitrypsin deficiency

Якутский медицинский журнал
The aim of this study is to develop a method for diagnosing PiZ mutation associated with alpha-1 antitrypsin deficiency using real-time PCR technology.A simple method is proposed for detecting one of the most frequent mutations of the Pi gene PiZ ...
E. V. Tapiev, A. Yu. Asanov, O. I. Simonova, A. L. Sukhomyasova, K. K. Pavlova, I. Yu. Chebelyaev   +5 more
doaj   +1 more source

Diagnostic Impact of Liver Biopsy Among Antinuclear Antibody Positive Individuals With Mild Liver Enzyme Elevation

Alimentary Pharmacology &Therapeutics, Volume 64, Issue 1, Page 103-111, July 2026.
In ANA‐positive patients with suspected autoimmune hepatitis (AIH), liver biopsy rarely altered therapeutic management when alanine aminotransferase (ALT) was below 101 U/L and cirrhosis was absent. These findings suggest that biopsy may be safely deferred in this low‐risk group.
David Mehdi Asgher Niazi, Alphonse Charbel, Jan Pfeiffenberger, Uta Merle, Jessica Seessle, Theresa Wenz, Christa Flechtenmacher, Patrick Michl, Conrad Rauber   +8 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency 50 years later

, 2014
National audienceAlpha-1 antitrypsin deficiency is a frequent genetic disorder associated with pulmonary emphysema in smokers and with liver cirrhosis. Aside from lung or liver transplantation, only replacement therapy can currently slow the progression ...
Mornex, Jean-Francois
core   +3 more sources