Results 51 to 60 of about 480,558 (290)

Liver disease in adults with severe alpha-1-antitrypsin deficiency

Journal of gastroenterology, 2019
BackgroundThe proportion of adults with liver disease due to severe alpha-1-antitrypsin deficiency (AATD), with PiZZ phenotype, is not clear. The markers of the AATD liver disease, how it progresses, and measures for its prevention have not been ...
H. Tanash, E. Piitulainen
semanticscholar   +1 more source

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression

Respiratory Medicine Case Reports, 2018
Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis.Here we report a ...
Zineb Jouhadi, Marie Francoise Odou, Farid Zerimech, Ahmed Aziz Bousfiha, Nabiha Mikou, Nicole Porchet, Michel Crepin, Jilali Najib, Malika Balduyck   +8 more
doaj   +1 more source

Delving into Vertebrate Serpins for Understanding their Evolution [PDF]

, 2009
The superfamily of serine proteinase inhibitors (serpins) is involved in an array of fundamental biological processes such as blood coagulation, cell differentiation, cell migration, complement activation, embryo implantation, fibrinolysis, angiogenesis,
Abhishek Kumar
core   +2 more sources

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

Hepatology International, 2019
Background and aims Alpha-1 antitrypsin (AAT) is a product of SERPINA1 gene mainly expressed by hepatocytes. Clinically relevant mutations in the SERPINA1 gene, such as Z (Glu342Lys), results in an expression of misfolded AAT protein having high ...
G. Gomez-Mariano, N. Matamala, Selene Martínez, I. Justo, A. Marcacuzco, Carlos Jiménez, S. Monzón, I. Cuesta, C. Garfia, M. T. Martínez, Meritxell Huch, I. Pérez de Castro, M. Posada, S. Janciauskiene, B. Martínez-Delgado   +14 more
semanticscholar   +1 more source

Alpha-1 Antitrypsin Deficiency: Home Therapy

Frontiers in Pharmacology, 2021
While available in only a few countries, home therapy is a possible strategy for the treatment of alpha-1 antitrypsin deficiency. We want to describe our experience in the management of human alpha-1 antitrypsin using home care intravenous augmentation ...
Anna Annunziata, Maurizia Lanza, Antonietta Coppola, Paolo Andreozzi, Sara Spinelli, Giuseppe Fiorentino   +5 more
doaj   +1 more source

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

Jornal Brasileiro de Pneumologia, 2021
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease.
José R Jardim, Francisco Casas-Maldonado, Frederico Leon Arrabal Fernandes, Maria Vera Cruz de O Castellano, María Torres-Durán, Marc Miravitlles   +5 more
doaj   +2 more sources

Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review - Supplementary Material [PDF]

, 2017
Research data used in the paper 'Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review.', Edgar RG, Patel M, Bayliss S, Crossley D, Sapey E, Turner AM, forthcoming in The International Journal of Chronic Obstructive Pulmonary ...
Bayliss, S., Crossley, D., Edgar, R.G., Patel, M., Sapey, E., Turner, A.M.   +5 more
core   +2 more sources

A neutrophil-dependent pathway for the generation of a neutral peptide mediator: partial characterization of components and control by alpha-1-antitrypsin. [PDF]

, 1974
A biologically active neutral peptide mediator is cleaved from a plasma protein substrate by an alpha-1-antitrypsin-inhibitable serine protease apparently residing on the membrane of the human neutrophil. The peptide mediator has an approximate mol wt of
Austen, KF, Goetzl, EJ, Wintroub, BU
core  

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, EarlyView.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source

Perbedaan Kadar Alpha 1 Antitrypsin Feses Berdasarkan Tingkat Keparahan Diare Akut pada Anak

Sari Pediatri, 2018
Latar belakang. Diare dapat menyebabkan kekurangan gizi, gangguan pertumbuhan dan gangguan kognitif. Gangguan gizi dapat terjadi karena asupan makanan yang kurang, atau kehilangan langsung karena kerusakan mukosa usus.
Fitriyana Fitriyana, Yusri Dianne Jurnalis, Eti Yerizel   +2 more
doaj   +1 more source