Results 91 to 100 of about 24,735 (239)

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

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 346, Issue 2, Page 107-127, March 2026.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications

International Journal of COPD, 2018
Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Chapman KR, Chorostowska-Wynimko J, Koczulla AR, Ferrarotti I, McElvaney NG   +4 more
doaj  

Prevalence and Spectrum of Chronic Liver Disease Among Patients Seeking Health Care in Ghana

Liver International, Volume 46, Issue 3, March 2026.
ABSTRACT Background Chronic liver diseases (CLD) leading to liver fibrosis and cirrhosis are a major cause of morbidity and mortality in sub‐Saharan Africa and pose a significant burden on its health care systems. We aimed to elucidate the prevalence of fibrosis/cirrhosis in patients seeking health care in Kumasi, Ghana, and its underlying aetiologies.
Felix Lehmann, Alexander Killer, Sarah Wels, Stefan Schmiedel, Richard Odame Phillips, Pia Luise Roppert, Kirsten Alexandra Eberhardt, Martha Charlotte Holtfreter, Sabine Stauga, Ansgar Wilhelm Lohse, Stephan Ehrhardt, Ohene Opare‐Sem, Hans Martin Orth, Fred Stephen Sarfo, Christian Drosten, Anna Maria Eis‐Hübinger, Tom Luedde, Dieter Glebe, Jan Felix Drexler, Torsten Feldt   +19 more
wiley   +1 more source

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency

Pulmonology, 2018
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several
A.P. Lopes, M.A. Mineiro, F. Costa, J. Gomes, C. Santos, C. Antunes, D. Maia, R. Melo, M. Canotilho, E. Magalhães, I. Vicente, C. Valente, B.G. Gonçalves, B. Conde, C. Guimarães, C. Sousa, J. Amado, M.E. Brandão, M. Sucena, M.J. Oliveira, S. Seixas, V. Teixeira, L. Telo   +22 more
doaj   +1 more source

Liver replacement for alpha1-antitrypsin deficiency [PDF]

, 1977
A 16-year-old girl with advanced cirrhosis and severe alpha1-antitrypsin deficiency of the homozygous PiZZ phenotype was treated by orthotopic liver transplantation.
Ashcavai, M, Peters, RL, Porter, KA, Putnam, CW, Redeker, AG, Starzl, TE   +5 more
core  

Distinct emphysema subtypes defined by quantitative CT analysis are associated with specific pulmonary matrix metalloproteinases. [PDF]

, 2016
BACKGROUND: Emphysema is characterised by distinct pathological sub-types, but little is known about the divergent underlying aetiology. Matrix-metalloproteinases (MMPs) are proteolytic enzymes that can degrade the extracellular matrix and have been ...
Bourne, S, Coombs, NA, Elkington, PT, Estepar, RS, Harden, S, Kim, V, Ostridge, K, Staples, KJ, Washko, G, Wilkinson, TM, Williams, N   +10 more
core   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples [PDF]

, 2017
Background: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are ...
Barrecheguren, Miriam, Belmonte, Irene, Esquinas López, Cristina, Miravitlles Fernández, Marc, Rodriguez-Frias, Francisco, Rodríguez, Esther   +5 more
core   +1 more source