Literature DB >> 3485249

Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes.

R I Garver, J F Mornex, T Nukiwa, M Brantly, M Courtney, J P LeCocq, R G Crystal.   

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Year:  1986        PMID： 3485249     DOI： 10.1056/NEJM198603203141207

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  26 in total

1.  Coordinated DNA methylation and gene expression changes in smoker alveolar macrophages: specific effects on VEGF receptor 1 expression.

Authors:  Robert A Philibert; Rory A Sears; Linda S Powers; Emma Nash; Thomas Bair; Alicia K Gerke; Ihab Hassan; Christie P Thomas; Thomas J Gross; Martha M Monick
Journal:  J Leukoc Biol       Date:  2012-03-16       Impact factor: 4.962

2.  Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema.

Authors:  N Yamada; M Yamaya; S Okinaga; K Nakayama; K Sekizawa; S Shibahara; H Sasaki
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  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.

Authors:  D Curiel; M Brantly; E Curiel; L Stier; R G Crystal
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

4.  Structure of human neutrophil elastase in complex with a peptide chloromethyl ketone inhibitor at 1.84-A resolution.

Authors:  M A Navia; B M McKeever; J P Springer; T Y Lin; H R Williams; E M Fluder; C P Dorn; K Hoogsteen
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

5.  Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus.

Authors:  D B Whitehouse; C M Abbott; J U Lovegrove; I McIntosh; C J McMahon; G Mieli-Vergani; A P Mowat; D A Hopkinson
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

6.  A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.

Authors:  M H Hofker; T Nukiwa; H M van Paassen; M Nelen; J A Kramps; E C Klasen; R R Frants; R G Crystal
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

7.  Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes.

Authors:  D W Cox; G D Billingsley
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

Review 8.  The epidemiology of alpha 1-antitrypsin deficiency.

Authors:  D C Hutchison
Journal:  Lung       Date:  1990       Impact factor: 2.584

9.  Elastase regulates the synthesis of its inhibitor, alpha 1-proteinase inhibitor, and exaggerates the defect in homozygous PiZZ alpha 1 PI deficiency.

Authors:  D H Perlmutter; J Travis; P I Punsal
Journal:  J Clin Invest       Date:  1988-06       Impact factor: 14.808

Review 10.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132
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