Literature DB >> 14985567

Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk.

D L DeMeo1, E K Silverman.   

Abstract

The genetic aspects of AAT deficiency and the variable manifestations of lung disease in PI Z individuals are reviewed. The role of modifying genetic factors which may interact with environmental factors (such as cigarette smoking) is discussed, and directions for future research are presented.

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Year:  2004        PMID： 14985567      PMCID： PMC1746953          DOI： 10.1136/thx.2003.006502

Source DB:  PubMed          Journal:  Thorax        ISSN： 0040-6376            Impact factor:   9.139


  62 in total

1.  Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton.

Authors:  D T Curiel; M D Holmes; H Okayama; M L Brantly; C Vogelmeier; W D Travis; L E Stier; W H Perks; R G Crystal
Journal:  J Biol Chem       Date:  1989-08-15       Impact factor: 5.157

2.  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

Review 3.  alpha 1-Antitrypsin: molecular pathology, leukocytes, and tissue damage.

Authors:  R W Carrell
Journal:  J Clin Invest       Date:  1986-12       Impact factor: 14.808

4.  Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.

Authors:  E K Silverman; J A Pierce; M A Province; D C Rao; E J Campbell
Journal:  Ann Intern Med       Date:  1989-12-15       Impact factor: 25.391

5.  Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida.

Authors:  H Takahashi; T Nukiwa; K Satoh; F Ogushi; M Brantly; G Fells; L Stier; M Courtney; R G Crystal
Journal:  J Biol Chem       Date:  1988-10-25       Impact factor: 5.157

6.  Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms.

Authors:  M L Brantly; L D Paul; B H Miller; R T Falk; M Wu; R G Crystal
Journal:  Am Rev Respir Dis       Date:  1988-08

7.  Transacylation of lyso platelet-activating factor and other lysophospholipids by macrophage microsomes. Distinct donor and acceptor selectivities.

Authors:  T Sugiura; Y Masuzawa; Y Nakagawa; K Waku
Journal:  J Biol Chem       Date:  1987-01-25       Impact factor: 5.157

8.  Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase.

Authors:  F Ogushi; G A Fells; R C Hubbard; S D Straus; R G Crystal
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

9.  Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes).

Authors:  D W Cox; H Levison
Journal:  Am Rev Respir Dis       Date:  1988-02

10.  A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum.

Authors:  R N Sifers; S Brashears-Macatee; V J Kidd; H Muensch; S L Woo
Journal:  J Biol Chem       Date:  1988-05-25       Impact factor: 5.157
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  70 in total

1.  Alpha-1-antitrypsin augmentation treatment: does one size fit all?

Authors:  J Stolk
Journal:  Thorax       Date:  2006-12       Impact factor: 9.139

2.  Impact of the loss of Hoxa5 function on lung alveogenesis.

Authors:  Isabel Mandeville; Josée Aubin; Michelle LeBlanc; Mélanie Lalancette-Hébert; Marie-France Janelle; Guy M Tremblay; Lucie Jeannotte
Journal:  Am J Pathol       Date:  2006-10       Impact factor: 4.307

3.  Rapid and inexpensive detection of alpha1-antitrypsin deficiency-related alleles S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening.

Authors:  Marcin P Kaczor; Marek Sanak; Andrew Szczeklik
Journal:  J Mol Diagn       Date:  2007-02       Impact factor: 5.568

4.  Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.

Authors:  Joshua A Bornhorst; Fernanda R O Calderon; Melinda Procter; Wei Tang; Edward R Ashwood; Rong Mao
Journal:  J Clin Pathol       Date:  2007-10       Impact factor: 3.411

5.  Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

Authors:  Shannon D Barker; Sherri Bale; Jessica Booker; Arlene Buller; Soma Das; Kenneth Friedman; Andrew K Godwin; Wayne W Grody; Edward Highsmith; Jeffery A Kant; Elaine Lyon; Rong Mao; Kristin G Monaghan; Deborah A Payne; Victoria M Pratt; Iris Schrijver; Antony E Shrimpton; Elaine Spector; Milhan Telatar; Lorraine Toji; Karen Weck; Barbara Zehnbauer; Lisa V Kalman
Journal:  J Mol Diagn       Date:  2009-09-18       Impact factor: 5.568

6.  Assessing pleiotropy and mediation in genetic loci associated with chronic obstructive pulmonary disease.

Authors:  Margaret M Parker; Sharon M Lutz; Brian D Hobbs; Robert Busch; MerryLynn N McDonald; Peter J Castaldi; Terri H Beaty; John E Hokanson; Edwin K Silverman; Michael H Cho
Journal:  Genet Epidemiol       Date:  2019-02-11       Impact factor: 2.135

Review 7.  National Emphysema Treatment Trial state of the art: genetics of emphysema.

Authors:  Craig P Hersh; Dawn L DeMeo; Edwin K Silverman
Journal:  Proc Am Thorac Soc       Date:  2008-05-01

Review 8.  Genetic predisposition to accelerated decline of lung function in COPD.

Authors:  Néstor A Molfino
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2007

9.  Level and course of FEV1 in relation to polymorphisms in NFE2L2 and KEAP1 in the general population.

Authors:  Mateusz Siedlinski; Dirkje S Postma; Jolanda M A Boer; Gerrit van der Steege; Jan P Schouten; Henriette A Smit; H Marike Boezen
Journal:  Respir Res       Date:  2009-08-11

10.  Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.

Authors:  Sabri Denden; Michele Zorzetto; Fethi Amri; Jalel Knani; Stefania Ottaviani; Roberta Scabini; Marina Gorrini; Ilaria Ferrarotti; Ilaria Campo; Jemni Ben Chibani; Amel Haj Khelil; Maurizio Luisetti
Journal:  Orphanet J Rare Dis       Date:  2009-04-15       Impact factor: 4.123
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