Results 61 to 70 of about 124,197,172 (205)

Shared dysregulation of complement and phosphorylation pathways in the cerebrospinal fluid of encephalitis, Aicardi–Goutières syndrome, and autism

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify shared and disorder‐specific molecular alterations across encephalitis, Aicardi–Goutières syndrome (AGS), and autism spectrum disorder (ASD) using cerebrospinal fluid (CSF) proteomics. Method In this cross‐sectional case–control study, mass‐spectrometry‐based proteomics was performed on archived CSF samples collected between ...
Omar H. Shadid, Peter G. Hains, Velda X. Han, Jingya Yan, Michael Griffiths, Ignatius Pang, Sushil Bandodkar, Phillip J. Robinson, Russell C. Dale   +8 more
wiley   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Self-administration of augmentation therapy for alpha 1-antitrypsin deficiency [PDF]

Self-administration of augmentation therapy for alpha 1-antitrypsin ...
Zuccarini, G, P. Confalonieri, S. Sanduzzi Zamparelli, Cinetto, F., Vianello, A., Confalonieri, P., Bargagli, E, Sanduzzi Zamparelli, S, M. Torrazza, Lococo, S, Vianello, A, Molena, B, Torrazza, M, Sanduzzi Zamparelli, S., L. Corda, L. Bertagna De Marchi, Baderna, P., G. Zuccarini, Corda, L., Bertagna De Marchi, L., Lionello, F, Baderna, P, Confalonieri, P, E. Bargagli, Caminati, M, Guarnieri, G, F. Lionello, Cinetto, F, S. Lococo, F. Cinetto, Lococo, S., Corda, L, M. Caminati, P. Baderna, B. Molena, A. Vianello, Torrazza, M., Bertagna De Marchi, L, Bargagli, E., Molena, B., G. Guarnieri, Guarnieri, G., Zuccarini, G., Lionello, F., Caminati, M., Confalonieri P., Lococo S., Bertagna De Marchi L., Cinetto F., Vianello A., Bargagli E., Baderna P., Molena B., Corda L., Sanduzzi Zamparelli S., Guarnieri G., Lionello F., Caminati M., Zuccarini G., Torrazza M.   +59 more
core   +1 more source

Pulmonary artery aneurysm as a rare manifestation of Alpha-1 antitrypsin deficiency

Respiratory Medicine Case Reports
Alpha-1 antitrypsin is a relatively well-known genetic disease known to primarily affect the lungs and liver. Extrapulmonary manifestations of this disease have been reported, including vascular aneurysms.
Mark A. Colantonio, Sanjana Aggarwal, Himanshu Deshwal   +2 more
doaj   +1 more source

Epigenetic and Metabolic Changes That Drive Trained Immunity in Response to Microbes and Vaccines

Immunology, EarlyView.
This graphical abstract illustrates how microbial products, vaccines and microbial metabolites activate pattern‐recognition receptor signalling, inducing metabolic rewiring and epigenetic remodelling. These changes establish long‐lasting trained immunity through the functional reprogramming of haematopoietic progenitors and innate immune cells, thereby
Desalegn Abebaw, Aytenew Atnaf, Bantayehu Addis Tegegne, Abebe Fenta, Bantegzie Selabat, Temesgen Baylie, Yonatan Kindie, Zigale Hibstu Teffera, Mekuriaw Belayneh, Mohammed Jemal, Adane Adugna   +10 more
wiley   +1 more source

Serum alpha-1-antitrypsin level in Iraqi patients with coronary heart disease

مجلة مركز بحوث التقنيات الاحيائية, 2011
This study was designed to estimate the level of serum alpha -1- antitrypsin in patients with coronary heart disease. Patients were clinically subdivided into stable angina 25 patients, unstable angina30 patients and myocardial infarction 50 patients. A
Asmaa M. Salih
doaj   +1 more source

Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature

Journal of Medical Case Reports, 2023
Background Alpha-1 antitrypsin, also known as alpha1 proteinase inhibitor, is a protein 90% synthesized by hepatocytes. Alpha-1 antitrypsin deficiency should be suspected if patients have unexplained emphysema or liver disease in the absence of others ...
Anna Annunziata, Alessandra Di Perna, Ilaria Ferrarotti, Antonietta Coppola, Maria Burricco, Giuseppe Fiorentino   +5 more
doaj   +1 more source

Distinct Microbial and Host Proteome Signatures Relate to Proteolytic Activity in Gingival Crevicular Fluid in an Exploratory Study of Patients With Periodontitis

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Aim Risk assessment tools for periodontitis lack sufficient precision to predict disease progression. The aim of this exploratory study was to evaluate proteolytic activity (PA) in gingival crevicular fluid in relation to clinically assessed progression risk, microbial community composition and host proteome. Materials and Methods Samples were
Miguel Carda‐Diéguez, Stefan Rüdiger, Gunnel Svensäter, Henrik Jansson, Tirthankar Mohanty, Yashuan Chao, Christofer Karlsson, Johan Malmström, Oonagh Shannon, Álex Mira, Julia R. Davies   +10 more
wiley   +1 more source

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

Drug Design, Development and Therapy, 2011
Jennifer A Dickens, David A LomasDepartment of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UKAbstract: Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is
Dickens JA, Lomas DA
doaj  

Alpha-1-Antitrypsin Deficiency in Children: Case Series

Вопросы современной педиатрии, 2016
Alpha-1-antitrypsin deficiency (A1AT) is a cause of an orphan disease, cases of which are well described in adult patients, but as for children, they are described only in a few publications, and in most of them the description is limited to liver ...
Svetlana I. Melnik, Nikolay N. Vlasov, Marina V. Pinevskaya, Elena A. Orlova, Svetlana V. Starevskaya, Irina Y. Melnikova   +5 more
doaj   +1 more source