Results 31 to 40 of about 18,796 (222)

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Orphanet Journal of Rare Diseases, 2018
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.
Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio   +10 more
doaj   +1 more source

Alpha-1 Antitrypsin as a Therapeutic Agent for Conditions not Associated with Alpha-1 Antitrypsin Deficiency

, 2015
Alpha-1 antitrypsin is a positive acute phase reactant whose serum level rises in response to inflammatory stress, presumably to balance pro-inflammatory processes.
Wanner, Adam, Adam Wanner
core   +1 more source

Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization

, 2012
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M., Fra, Anna M, Anna M. Fra (157302), Scabini, Roberta, Federica Benini, Ferrarotti, Ilaria, L. Corda, Corda, Luciano, Scabini R, E. Miranda, LUISETTI, MAURIZIO, Miranda Elena, Benini, Federica, Corda, L., Benini, F., Medicina D, Luciano Corda, Maurizio Luisetti (142908), Luisa Schiaffonati, I. Ferrarotti, Anna M. Fra, Ilaria Ferrarotti (142893), Luisetti M, Gooptu Bibek, Miranda, E., SCHIAFFONATI, Luisa, Gooptu, Bibekbrata, Anna M Fra, Medicina, Daniela, Elena Miranda, Schiaffonati Luisa, Ferrarotti, I., Medicina, D., R. Ronzoni, Luisetti Maurizio, Daniela Medicina, R. Scabini, L. Schiaffonati, Roberta Scabini (157306), Ferrarotti Ilaria, Ronzoni, R., B. Gooptu, Ferrarotti I, Bibek Gooptu (157303), Luciano Corda (157317), F. Benini, Scabini Roberta, Gasset, M., A. M. Fra, MIRANDA BANOS, MARIA ELENA, Fra, A.M., Ilaria Ferrarotti, Medicina Daniela, FRA, Annamaria, RONZONI, Riccardo, Gooptu B, Daniela Medicina (157321), Ronzoni Riccardo, Benini Federica, Miranda, Elena, D. Medicina, Corda Luciano, Maurizio Luisetti, Benini F, Scabini, R., Corda L, Roberta Scabini, Riccardo Ronzoni (157309), Luisa Schiaffonati (157328), Federica Benini (157312), Riccardo Ronzoni, Gooptu, Bibek, Luisetti, M., Schiaffonati, L., Elena Miranda (21508), Bibek Gooptu, Miranda E   +76 more
core   +1 more source

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Orphanet Journal of Rare Diseases, 2020
Background Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development.
Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman, Adam Wanner   +12 more
doaj   +1 more source

Therapeutics: Alpha-1 Antitrypsin Augmentation Therapy

, 2017
Subjects with alpha-1 antitrypsin deficiency who develop pulmonary disease are managed following general treatment guidelines, including disease management interventions.
Lascano, Jorge, Campos, Michael, Michael Campos, Jorge Lascano   +3 more
core   +1 more source

Alpha-1 antitrypsin deficiency in patients with chronic hepatitis

The Turkish Journal of Gastroenterology, 2012
Background/aims: Alpha-1 antitrypsin deficiency causes accumulation of mutant alpha-1 antitrypsin molecules in hepatocytes, and is attributed to severe liver injury even in heterozygous state.
Halis Şimşek, Aslı PINAR, Akif Altınbaş, Alparslan ALP, Yasemin H. BALABAN, Yahya BÜYÜKAŞIK, Osman ÖZCEBE, Gülşen HASÇELİK, Gökhan GEDİKOĞLU, Gonca Tatar   +9 more
doaj   +2 more sources

Rheumatoid Arthritis and Coronary Artery Calcium Progression: A Case Cohort Analysis From ELSA‐Brasil

Arthritis Care &Research, EarlyView.
Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada, Marcos Rafael N. Cavalcante, Itamar de Souza Santos, Márcio S. Bittencourt, Vandrize Meneghini, Paulo A. Lotufo, Alessandra C. Goulart, Isabela M. Bensenor   +7 more
wiley   +1 more source

Lung function in the general population : the complex interplay of variants in "Serpina1" and other genes with the environment [PDF]

, 2013
Background. One of the globally most frequent health problems are obstructive lung diseases such as asthma and chronic obstructive pulmonary disease.
Thun, Gian Andri
core   +1 more source

A rare case of alpha 1-antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis

Annals of Thoracic Medicine, 2014
Alpha 1-antitrypsin (AAT) belongs to the family of serpins (serine protease inhibitors). Loop sheet polymerization is the pathology behind serpinopathies which encompasses AAT, anti-thrombin III and neuroserpin deficiency.
Raghav Gupta, Srilekha Sridhara, John A Wood   +2 more
doaj   +1 more source

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency

Frontiers in Molecular Biosciences, 2022
Background: Alpha-1 antitrypsin deficiency (A1ATD) is a progressive lung disease caused by inherited pathogenic variants in the SERPINA1 gene. However, their actual role in maintenance of structural and functional characteristics of the corresponding α-1
Noor Ahmad Shaik, Noor Ahmad Shaik, Najla Bint Saud Al-Saud, Thamer Abdulhamid Aljuhani, Kaiser Jamil, Huda Alnuman, Deema Aljeaid, Nasreen Sultana, Ashraf AbdulRahman El-Harouni, Zuhier Ahmed Awan, Zuhier Ahmed Awan, Ramu Elango, Ramu Elango, Babajan Banaganapalli, Babajan Banaganapalli   +14 more
doaj   +1 more source