Results 41 to 50 of about 410,523 (291)

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

Alpha-1 Antitrypsin Deficiency

Methods in Molecular Biology, 2018
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
David S Williams
semanticscholar   +1 more source

Systemic modified messenger RNA for replacement therapy in alpha 1-antitrypsin deficiency

Scientific Reports, 2020
Alpha 1-antitrypsin (AAT) deficiency arises from an inherited mutation in the SERPINA1 gene. The disease causes damage in the liver where the majority of the AAT protein is produced.
Ahmad Karadagi, Alex Cavedon, H. Zemack, G. Nowak, Marianne E. Eybye, Xuling Zhu, E. Guadagnin, Rebecca A. White, L. Rice, A. Frassetto, S. Strom, C. Jorns, P. Martini, Ewa C. S. Ellis   +13 more
semanticscholar   +1 more source

Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study [PDF]

, 2018
Background Alpha-1 antitrypsin deficiency (AATD) is the most common hereditary disorder in adults, but is under-recognized. In Spain, the number of patients diagnosed with AATD is much lower than expected according to epidemiologic studies.
Alcázar Navarrete, Bernardino, Calle Rubio, Myriam, López-Campos Bodineau, José Luis, Rodríguez González-Moro, José Miguel, Rodríguez Hermosa, Juan Luis, Soler-Cataluña, Juan J., Soriano, Joan B.   +6 more
core   +1 more source

alpha 1-antitrypsin deficiency.

Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace, 1998
Homozygous PIZZ alpha 1-antitrypsin deficiency, which has an incident of 1 in 1600 to 1 in 2000 live births, is the most common genetic cause of liver disease in children. It is also associated with chronic liver disease and hepatocellular carcinoma in adults. It is a well-known cause of pulmonary emphysema.
Paone G, Brantly M.
openaire   +5 more sources

Idiopathic Hemochromotosis and Alpha‐1‐Antitrypsin Deficiency: Coexistence in a Family with Progressive Liver Disease in the Proband [PDF]

, 1983
A patient with coexistent hemochromatosis and alpha‐1‐antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others
Addison, Allen, Amos, Anonymous, Bomford, Brozovich, Caraway, Chapuis-Cellier, Gadek, Gerblich, Hodges, Hood, Larson, Lloyd, Powell, Reintoft, Saugier, Simon, Simon, Simon, Sternberger, Sveger   +21 more
core   +1 more source

ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN

Медицинский совет, 2017
Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation.
S. I. MELNIK, M. V. PINEVSKAYA, E. A. ORLOVA, S. V. STAREVSKAYA, I. Y. MELNIKOVA, V. I. LARIONOVA   +5 more
doaj   +1 more source

Augmentation therapy with human alpha-1-proteinase inhibitor reduces exacerbations in patient with bronchiectasis and alpha-1-antitrypsin deficiency

Respiratory Medicine Case Reports, 2022
Alpha-1-antitrypsin deficiency (AATD) is a rare cause of noncystic fibrosis (CF) bronchiectasis. The benefits of augmentation therapy in patients with chronic obstructive pulmonary disease (COPD) and pulmonary emphysema are well established.
Emanuel Buck, Maria Ada Presotto, Judith Brock, Kai Schlamp, Martina Veith, Felix J.F. Herth, Franziska Christina Trudzinski   +6 more
doaj   +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.
M. Brantly, Michael A Campos, A. Davis, J. D’Armiento, K. Goodman, K. Hanna, Miriam O’Day, John Queenan, R. Sandhaus, J. Stoller, C. Strange, J. Teckman, A. Wanner   +12 more
semanticscholar   +1 more source

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes

Pulmonology
Alpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on ...
Ilaria Ferrarotti, Davide Piloni, Asia Filosa, Stefania Ottaviani, Valentina Barzon, Alice Maria Balderacchi, Luciano Corda, Christine Seebacher, Sara Magni, Francesca Mariani, Paolo Baderna, Paola Confalonieri, Leonardo Iannacci, Silvia Mancinelli, Paola Putignano, Carlo Albera, Giulia Maria Stella, Maria Cristina Monti, Angelo Guido Corsico   +18 more
doaj   +1 more source