Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bao J. J., Reed-Fourquet L., Sifers R. N., Kidd V. J., Woo S. L. Molecular structure and sequence homology of a gene related to alpha 1-antitrypsin in the human genome. Genomics. 1988 Feb;2(2):165–173. doi: 10.1016/0888-7543(88)90099-7. [DOI] [PubMed] [Google Scholar]
- Brantly M., Courtney M., Crystal R. G. Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation. Science. 1988 Dec 23;242(4886):1700–1702. doi: 10.1126/science.2904702. [DOI] [PubMed] [Google Scholar]
- Brantly M., Nukiwa T., Crystal R. G. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med. 1988 Jun 24;84(6A):13–31. doi: 10.1016/0002-9343(88)90154-4. [DOI] [PubMed] [Google Scholar]
- Buraczynska M., Schött D., Hanzlik A. J., Höltmann B., Ulmer W. T. Alpha 1-antitrypsin gene polymorphism related to respiratory system disease. Klin Wochenschr. 1987 Jul 15;65(12):538–541. doi: 10.1007/BF01727618. [DOI] [PubMed] [Google Scholar]
- Carlson J. A., Rogers B. B., Sifers R. N., Hawkins H. K., Finegold M. J., Woo S. L. Multiple tissues express alpha 1-antitrypsin in transgenic mice and man. J Clin Invest. 1988 Jul;82(1):26–36. doi: 10.1172/JCI113580. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Carrell R. W., Jeppsson J. O., Laurell C. B., Brennan S. O., Owen M. C., Vaughan L., Boswell D. R. Structure and variation of human alpha 1-antitrypsin. Nature. 1982 Jul 22;298(5872):329–334. doi: 10.1038/298329a0. [DOI] [PubMed] [Google Scholar]
- Cohen B. H., Ball W. C., Jr, Bias W. B., Brashears S., Chase G. A., Diamond E. L., Hsu S. H., Kreiss P., Levy D. A., Menkes H. A. A genetic-epidemiologic study of chronic obstructive pulmonary disease. I. Study design and preliminary observations. Johns Hopkins Med J. 1975 Sep;137(3):95–104. [PubMed] [Google Scholar]
- Crystal R. G. Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J Clin Invest. 1990 May;85(5):1343–1352. doi: 10.1172/JCI114578. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Crystal R. G. Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J Clin Invest. 1990 May;85(5):1343–1352. doi: 10.1172/JCI114578. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Curiel D. T., Vogelmeier C., Hubbard R. C., Stier L. E., Crystal R. G. Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele. Mol Cell Biol. 1990 Jan;10(1):47–56. doi: 10.1128/mcb.10.1.47. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Curiel D., Brantly M., Curiel E., Stier L., Crystal R. G. Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin. J Clin Invest. 1989 Apr;83(4):1144–1152. doi: 10.1172/JCI113994. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Engh R., Löbermann H., Schneider M., Wiegand G., Huber R., Laurell C. B. The S variant of human alpha 1-antitrypsin, structure and implications for function and metabolism. Protein Eng. 1989 Mar;2(6):407–415. doi: 10.1093/protein/2.6.407. [DOI] [PubMed] [Google Scholar]
- Feinstein A. R., Spitzer W. O. The Journal of Clinical Epidemiology: same wine, new label for the Journal of Chronic Diseases. J Clin Epidemiol. 1988;41(1):1–7. doi: 10.1016/0895-4356(88)90002-9. [DOI] [PubMed] [Google Scholar]
- Foreman R. C. Disruption of the Lys-290--Glu-342 salt bridge in human alpha 1-antitrypsin does not prevent its synthesis and secretion. FEBS Lett. 1987 May 25;216(1):79–82. doi: 10.1016/0014-5793(87)80760-3. [DOI] [PubMed] [Google Scholar]
- Gadek J. E., Klein H. G., Holland P. V., Crystal R. G. Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest. 1981 Nov;68(5):1158–1165. doi: 10.1172/JCI110360. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Graham A., Kalsheker N. A., Newton C. R., Bamforth F. J., Powell S. J., Markham A. F. Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). Hum Genet. 1989 Dec;84(1):55–58. doi: 10.1007/BF00210671. [DOI] [PubMed] [Google Scholar]
- Hofker M. H., Nelen M., Klasen E. C., Nukiwa T., Curiel D., Crystal R. G., Frants R. R. Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene. Biochem Biophys Res Commun. 1988 Sep 15;155(2):634–642. doi: 10.1016/s0006-291x(88)80542-4. [DOI] [PubMed] [Google Scholar]
- Holmes M. D., Brantly M. L., Curiel D. T., Weidinger S., Crystal R. G. Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern. Am J Hum Genet. 1990 Apr;46(4):810–816. [PMC free article] [PubMed] [Google Scholar]
- Hubbard R. C., Brantly M. L., Sellers S. E., Mitchell M. E., Crystal R. G. Anti-neutrophil-elastase defenses of the lower respiratory tract in alpha 1-antitrypsin deficiency directly augmented with an aerosol of alpha 1-antitrypsin. Ann Intern Med. 1989 Aug 1;111(3):206–212. doi: 10.7326/0003-4819-111-3-206. [DOI] [PubMed] [Google Scholar]
- Hubbard R. C., Sellers S., Czerski D., Stephens L., Crystal R. G. Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA. 1988 Sep 2;260(9):1259–1264. [PubMed] [Google Scholar]
- Hutchison D. C. Homozygous and heterozygous alpha-1-antitrypsin deficiency: prevalence in pulmonary emphysema. Proc R Soc Med. 1976 Feb;69(2):130–131. [PMC free article] [PubMed] [Google Scholar]
- Jallat S., Carvallo D., Tessier L. H., Roecklin D., Roitsch C., Ogushi F., Crystal R. G., Courtney M. Altered specificities of genetically engineered alpha 1 antitrypsin variants. Protein Eng. 1986 Oct-Nov;1(1):29–35. doi: 10.1093/protein/1.1.29. [DOI] [PubMed] [Google Scholar]
- Janoff A. Elastases and emphysema. Current assessment of the protease-antiprotease hypothesis. Am Rev Respir Dis. 1985 Aug;132(2):417–433. doi: 10.1164/arrd.1985.132.2.417. [DOI] [PubMed] [Google Scholar]
- Jeppsson J. O., Laurell C. B. The amino acid substitutions of human alpha 1-antitrypsin M3, X and Z. FEBS Lett. 1988 Apr 25;231(2):327–330. doi: 10.1016/0014-5793(88)80843-3. [DOI] [PubMed] [Google Scholar]
- Kalsheker N. A., Hodgson I. J., Watkins G. L., White J. P., Morrison H. M., Stockley R. A. Deoxyribonucleic acid (DNA) polymorphism of the alpha 1-antitrypsin gene in chronic lung disease. Br Med J (Clin Res Ed) 1987 Jun 13;294(6586):1511–1514. doi: 10.1136/bmj.294.6586.1511. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kidd V. J., Golbus M. S., Wallace R. B., Itakura K., Woo S. L. Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene. N Engl J Med. 1984 Mar 8;310(10):639–642. doi: 10.1056/NEJM198403083101007. [DOI] [PubMed] [Google Scholar]
- Lai E. C., Kao F. T., Law M. L., Woo S. L. Assignment of the alpha 1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization. Am J Hum Genet. 1983 May;35(3):385–392. [PMC free article] [PubMed] [Google Scholar]
- Ledley F. D., Woo S. L. Molecular basis of alpha 1-antitrypsin deficiency and its potential therapy by gene transfer. J Inherit Metab Dis. 1986;9 (Suppl 1):85–91. doi: 10.1007/BF01800861. [DOI] [PubMed] [Google Scholar]
- Loebermann H., Tokuoka R., Deisenhofer J., Huber R. Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function. J Mol Biol. 1984 Aug 15;177(3):531–557. [PubMed] [Google Scholar]
- Long G. L., Chandra T., Woo S. L., Davie E. W., Kurachi K. Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry. 1984 Oct 9;23(21):4828–4837. doi: 10.1021/bi00316a003. [DOI] [PubMed] [Google Scholar]
- Mittman C., Barbela T., Lieberman J. Alpha 1 -antitrypsin deficiency as an indicator of susceptibility to pulmonary disease. J Occup Med. 1973 Jan;15(1):33–38. [PubMed] [Google Scholar]
- Nukiwa T., Brantly M., Ogushi F., Fells G., Satoh K., Stier L., Courtney M., Crystal R. G. Characterization of the M1(Ala213) type of alpha 1-antitrypsin, a newly recognized, common "normal" alpha 1-antitrypsin haplotype. Biochemistry. 1987 Aug 25;26(17):5259–5267. doi: 10.1021/bi00391a008. [DOI] [PubMed] [Google Scholar]
- Nukiwa T., Satoh K., Brantly M. L., Ogushi F., Fells G. A., Courtney M., Crystal R. G. Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene. J Biol Chem. 1986 Dec 5;261(34):15989–15994. [PubMed] [Google Scholar]
- Nukiwa T., Takahashi H., Brantly M., Courtney M., Crystal R. G. alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. J Biol Chem. 1987 Sep 5;262(25):11999–12004. [PubMed] [Google Scholar]
- Perlino E., Cortese R., Ciliberto G. The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes. EMBO J. 1987 Sep;6(9):2767–2771. doi: 10.1002/j.1460-2075.1987.tb02571.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Poller W., Meisen C., Olek K. DNA polymorphisms of the alpha 1-antitrypsin gene region in patients with chronic obstructive pulmonary disease. Eur J Clin Invest. 1990 Feb;20(1):1–7. doi: 10.1111/j.1365-2362.1990.tb01769.x. [DOI] [PubMed] [Google Scholar]
- Rogers J., Kalsheker N., Wallis S., Speer A., Coutelle C. H., Woods D., Humphries S. E. The isolation of a clone for human alpha 1-antitrypsin and the detection of alpha 1-antitrypsin in mRNA from liver and leukocytes. Biochem Biophys Res Commun. 1983 Oct 31;116(2):375–382. doi: 10.1016/0006-291x(83)90532-6. [DOI] [PubMed] [Google Scholar]
- Satoh K., Nukiwa T., Brantly M., Garver R. I., Jr, Hofker M., Courtney M., Crystal R. G. Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Am J Hum Genet. 1988 Jan;42(1):77–83. [PMC free article] [PubMed] [Google Scholar]
- Sifers R. N., Brashears-Macatee S., Kidd V. J., Muensch H., Woo S. L. A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem. 1988 May 25;263(15):7330–7335. [PubMed] [Google Scholar]
- Sifers R. N., Hardick C. P., Woo S. L. Disruption of the 290-342 salt bridge is not responsible for the secretory defect of the PiZ alpha 1-antitrypsin variant. J Biol Chem. 1989 Feb 15;264(5):2997–3001. [PubMed] [Google Scholar]
- Stockley R. A. Proteolytic enzymes, their inhibitors and lung diseases. Clin Sci (Lond) 1983 Feb;64(2):119–126. doi: 10.1042/cs0640119. [DOI] [PubMed] [Google Scholar]
- Yoshida A., Chillar R., Taylor J. C. An alpha 1-antitrypsin variant, Pi B Alhambra (Lys to Asp, Glu to Asp), with rapid anodal electrophoretic mobility. Am J Hum Genet. 1979 Sep;31(5):555–563. [PMC free article] [PubMed] [Google Scholar]