A1AT+References

Campbell, M. K, Denson, L.E (2007). Alpha-1-Antitrypsin Deficiency. Pediatric and Clinical Advisor: Instant Diagnosis and Treatment. (2), 18-19. http://www.sciencedirect.com/science/article/pii/B9780323035064100094.

Campos, M.A., Lascano, J. (2014). α1 Antitrypsin Deficiency: Current Best Practice in Testing and Augmentation Therapy. Therapeuitic Advances in Respiratory Disease, 8(5), 150-161.[|10.1177/1753465814542243]

Donato, L. J., Karras, R. M., Katzmann, J. A., Murray, D. L., & Snyder, M. R. (2015). Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles. Respiratory Research, 16(1), 96. []

Haq, I., Irving, J. A., Saleh, A. D., Dron, L., Regan-Mochrie, G. L., Motamedi-Shad, N., … Lomas, D. A. (2016). Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization. American Journal of Respiratory Cell and Molecular Biology, 54(1), 71–80. []

Long, O. S., Benson, J. A., Kwak, J. H., Luke, C. J., Gosai, S. J., O’Reilly, L. P., … Pak, S. C. (2014). A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover. Human Molecular Genetics, 23(19), 5109–5122. []

Matamala, N., Aggarwal, N., Iadarola, P., Fumagalli, M., Gomez-Mariano, G., Lara, B., … Martinez-Delgado, B. (2017). Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene. PLoS ONE, 12(1), e0170533. [] Moller, D. R., Koth, L. L., Maier, L. A., Morris, A., Drake, W., Rossman, M., … Gibson, K. F. (2015). Rationale and Design of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) Study. Sarcoidosis Protocol. Annals of the American Thoracic Society, 12(10), 1561–1571. [] O’Reilly, L. P., Long, O. S., Cobanoglu, M. C., Benson, J. A., Luke, C. J., Miedel, M. T., … Pak, S. C. (2014). A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency. Human Molecular Genetics, 23(19), 5123–5132. [] Parrott, R. L., Smith, R. A., Hong, S. J., & Worthington, A. (2015). Congruence-Incongruence Patterns in Alpha-1 Antitrypsin Deficiency Couples’ Genetic Determinist Beliefs and Perceived Control over Genes: Implications for Clinical and Public Health Genomic Communication. Journal of Genetic Counseling, 24(3), 532–540. [] Sinden, N. J., Baker, M. J., Smith, D. J., Kreft, J.-U., Dafforn, T. R., & Stockley, R. A. (2015). α-1-Antitrypsin variants and the proteinase/antiproteinase imbalance in chronic obstructive pulmonary disease. American Journal of Physiology - Lung Cellular and Molecular Physiology, 308(2), L179–L190. [] Wilson, A. A., Ying, L., Liesa, M., Segeritz, C.-P., Mills, J. A., Shen, S. S., … Kotton, D. N. (2015). Emergence of a Stage-Dependent Human Liver Disease Signature with Directed Differentiation of Alpha-1 Antitrypsin-Deficient iPS Cells. Stem Cell Reports, 4(5), 873–885. []

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