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Liver Biology/Pathobiology
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Single nucleotide polymorphism–mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency†
Article first published online: 19 MAR 2009
DOI: 10.1002/hep.22974
Copyright © 2009 American Association for the Study of Liver Diseases
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How to Cite
Pan, S., Huang, L., McPherson, J., Muzny, D., Rouhani, F., Brantly, M., Gibbs, R. and Sifers, R. N. (2009), Single nucleotide polymorphism–mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. Hepatology, 50: 275–281. doi: 10.1002/hep.22974
- †
Potential conflict of interest: Nothing to report.
Publication History
- Issue published online: 23 JUN 2009
- Article first published online: 19 MAR 2009
- Accepted manuscript online: 19 MAR 2009 12:00AM EST
- Manuscript Accepted: 7 MAR 2009
- Manuscript Received: 22 AUG 2008
Funded by
- NIH. Grant Number: DK064232
- Fernandez Liver Initiative research grant FO3-12 from the Alpha-1 Foundation
- Alpha-1 Foundation
- Liver Tissue Cell Distribution System (LTCDS). Grant Number: #N01-DK-7-0004 / HHSN267200700004C
- Alpha1-Foundation–University of Florida DNA and Tissue Bank
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- 4, , , , Diagnosis and Management of Patients With a1-Antitrypsin (A1AT) Deficiency, Clinical Gastroenterology and Hepatology, 2011,
- 5, , , α1-antitrypsin deficiency and inflammation, Expert Review of Clinical Immunology, 2011, 7, 2, 243
- 6, , , , , , Performance of enhanced liver fibrosis plasma markers in asymptomatic individuals with ZZ α1-antitrypsin deficiency, European Journal of Gastroenterology & Hepatology, 2011, 23, 8, 716
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- 8, , , , The role of proteases, endoplasmic reticulum stress andSERPINA1heterozygosity in lung disease and α-1 anti-trypsin deficiency, Expert Review of Respiratory Medicine, 2011, 5, 3, 395
- 9, , , , , , , , , , , , An Autophagy-Enhancing Drug Promotes Degradation of Mutant  1-Antitrypsin Z and Reduces Hepatic Fibrosis, Science, 2010, 329, 5988, 229
- 10, , , Cholestatic Liver Disease in Children, Current Gastroenterology Reports, 2010, 12, 1, 30
- 11, , Hepatic Neoplasia and Metabolic Diseases in Children, Clinics in Liver Disease, 2010, 14, 4, 731
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- 13, , , , , , , , , , , , , , Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells, Journal of Clinical Investigation, 2010, 120, 9, 3127
- 14, , , , , Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia, Liver International, 2010, 30, 10Direct Link:
- 15, , , , , Polymorphism in the endoplasmic reticulum mannosidase I (MAN1B1) gene is not associated with liver disease in individuals homozygous for the Z variant of the alpha1-antitrypsin protease inhibitor (PiZZ individuals), Hepatology, 2009, 50, 4Direct Link:
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- 17, Alpha-1 Antitrypsin Deficiency,Direct Link:

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