Results 51 to 60 of about 11,907 (228)

SERPINA1 gene identified in RNA-Seq showed strong association with milk protein concentration in Chinese Holstein cows [PDF]

PeerJ, 2020
The detection of candidate genes and mutations associated with phenotypic traits is important for livestock animals. A previous RNA-Seq study revealed that SERPINA1 gene was a functional candidate that may affect milk protein concentration in dairy cows.
Cong Li, Wentao Cai, Shuli Liu, Chenghao Zhou, Hongwei Yin, Dongxiao Sun, Shengli Zhang   +6 more
doaj   +2 more sources

DNA methylation profiling in peripheral lung tissues of smokers and patients with COPD [PDF]

, 2017
Background: Epigenetics changes have been shown to be affected by cigarette smoking. Cigarette smoke (CS)-mediated DNA methylation can potentially affect several cellular and pathophysiological processes, acute exacerbations, and comorbidity in the lungs
Baier, Brian S., Li, Dongmei, Mazur, Witold, Rahman, Irfan, Sundar, Isaac K., Susiarjo, Martha, Yan, Li, Yin, Qiangzong   +7 more
core   +1 more source

Low Prevalence of Mild Alpha-1-Antitrypsin Deficiency in Hospitalized COVID-19-Patients

International Journal of General Medicine, 2022
David Nygren,1 Ulrica Mölstad,2 Hans Thulesius,2– 4 Magnus Hillman,5,6 Lars Mikael Broman,7,8 Hanan Tanash,9,10 Mona Landin-Olsson,5,6 Magnus Rasmussen,1 Maria Thunander2,6,11 1Division of Infection Medicine, Department of Clinical Sciences, Lund ...
Nygren D, Mölstad U, Thulesius H, Hillman M, Broman LM, Tanash H, Landin-Olsson M, Rasmussen M, Thunander M   +8 more
doaj  

Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency

Respiratory Medicine Case Reports, 2023
Background: The clinical and molecular characteristics of three patients with previously unreported SERPINA1 mutations associated with severe alpha-1 antitrypsin deficiency (AATD) are described.
Philipp Höger, Martina Veith, Timm Greulich, Eldridge Limen, Judith Brock, Kai Schlamp, Katharina Buschulte, Maria A. Presotto, Julia Carmen Schäfer, Felix Herth, Franziska C. Trudzinski   +10 more
doaj   +1 more source

Subtractive gene expression profiling of articular cartilage and mesenchymal stem cells: serpins as cartilage-relevant differentiation markers [PDF]

, 2007
SummaryObjectiveMesenchymal stem cells (MSCs) are a population of cells broadly discussed to support cartilage repair. The differentiation of MSCs into articular chondrocytes is, however, still poorly understood on the molecular level.
Boeuf, S., Steck, E., Pelttari, K., Hennig, T., Buneß, A., Benz, K., Witte, D., Sültmann, H., Poustka, A., Richter, W.   +9 more
core   +1 more source

A Novel SERPINA1 Mutation Causing Serum Alpha1-Antitrypsin Deficiency

PLoS ONE, 2012
Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α(1)-Antitrypsin (α(1)AT). α(1)AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA.
Darren N Saunders, Elizabeth A Tindall, Robert F Shearer, Jacquelyn Roberson, Amy Decker, Jean Amos Wilson, Vanessa M Hayes   +6 more
openaire   +4 more sources

The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease. [PDF]

, 2015
Individuals with Alpha-1 antitrypsin deficiency (AATD) have mutations in the SERPINA1 gene causing genetic susceptibility to early onset lung and liver disease that may result in premature death.
Carroll, Tomás P, Fee, Laura T, Logan, P Mark, McElvaney, Noel G, O\u27Brien, M Emmett, O\u27Connor, Catherine, Pennycooke, Kevin, Reeves, Emer P, Shum, Jonathan   +8 more
core   +2 more sources

Novel RNA-binding activity of NQO1 promotes SERPINA1 mRNA translation [PDF]

Free Radical Biology and Medicine, 2016
NAD(P)H: quinone oxidoreductase (NQO1) is essential for cell defense against reactive oxidative species, cancer, and metabolic stress. Recently, NQO1 was found in ribonucleoprotein (RNP) complexes, but NQO1-interacting mRNAs and the functional impact of such interactions are not known.
Andrea, Di Francesco, Clara, Di Germanio, Amaresh C, Panda, Phu, Huynh, Robert, Peaden, Ignacio, Navas-Enamorado, Paul, Bastian, Elin, Lehrmann, Alberto, Diaz-Ruiz, David, Ross, David, Siegel, Jennifer L, Martindale, Michel, Bernier, Myriam, Gorospe, Kotb, Abdelmohsen, Rafael, de Cabo   +15 more
openaire   +2 more sources

Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency

Nature Genetics
Somatic variants accumulate in non-malignant tissues with age. Functional variants, leading to clonal advantage of hepatocytes, accumulate in the liver of patients with acquired chronic liver disease (CLD). Whether somatic variants are common to CLD from
Natalia Brzozowska, Lily Y D Wu, Vera Khodzhaeva, William J Griffiths, Adam Duckworth, Hyunchul Jung, Tim H. H. Coorens, Y. Hooks, Joseph E. Chambers, P. Campbell, Stefan J. Marciniak, Matthew Hoare   +11 more
semanticscholar   +1 more source

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency [PDF]

Journal of Translational Medicine, 2015
SERPINA1 is the gene for alpha-1 antitrypsin (AAT), an acute phase protein with anti-protease and immunoregulatory activities. Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver diseases. Expression of the SERPINA1 gene is regulated by different promoters and alternative splicing events among ...
Matamala N., Martinez M. T., Lara B., Perez L., Vazquez I., LOZANO JIMENEZ, ANDRES, Barquin M., Ferrarotti I., Blanco I., Janciauskiene S., Martinez-Delgado B.   +10 more
openaire   +4 more sources