Literature DB >> 14760160

Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency.

M Luisetti1, N Seersholm.   

Abstract

The protein and molecular characteristics of variants of the alpha1-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of AAT deficiency are presented.

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Year:  2004        PMID： 14760160      PMCID： PMC1746939          DOI： 10.1136/thorax.2003.006494

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


  40 in total

1.  Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups.

Authors:  J J Hoffmann; W G van den Broek
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

Review 2.  Report of the committee on the genetic constitution of chromosome 14.

Authors:  D W Cox; Y Nakamura; T Gedde-Dahl
Journal:  Cytogenet Cell Genet       Date:  1990

Review 3.  The Pi system-inherited variants of serum alpha 1-antitrypsin.

Authors:  M K Fagerhol; C B Laurell
Journal:  Prog Med Genet       Date:  1970

4.  Serum Pi types in some Lappish and Finnish populations.

Authors:  M K Fagerhol; A W Eriksson; E Monn
Journal:  Hum Hered       Date:  1969       Impact factor: 0.444

5.  Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism.

Authors:  S Seixas; O Garcia; M J Trovoada; M T Santos; A Amorim; J Rocha
Journal:  Hum Genet       Date:  2001-01       Impact factor: 4.132

6.  Intermediate alpha 1-antitrypsin deficiency PiSZ: a risk factor for pulmonary emphysema?

Authors:  N Seersholm; A Kok-Jensen
Journal:  Respir Med       Date:  1998-02       Impact factor: 3.415

Review 7.  Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z.

Authors:  D C Hutchison
Journal:  Respir Med       Date:  1998-03       Impact factor: 3.415

8.  Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone.

Authors:  K Seyama; T Nukiwa; K Takabe; H Takahashi; K Miyake; S Kira
Journal:  J Biol Chem       Date:  1991-07-05       Impact factor: 5.157

9.  Usefulness of a national registry of alpha-1-antitrypsin deficiency. The Spanish experience.

Authors:  M Miravitlles; R Vidal; J C Barros-Tizón; A Bustamante; P P España; F Casas; M T Martínez; C Escudero; R Jardi
Journal:  Respir Med       Date:  1998-10       Impact factor: 3.415

10.  Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency.

Authors:  B C Byth; G D Billingsley; D W Cox
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025
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  70 in total

1.  The origin and spread of the HFE-C282Y haemochromatosis mutation.

Authors:  S Distante; K J H Robson; J Graham-Campbell; A Arnaiz-Villena; P Brissot; Mark Worwood
Journal:  Hum Genet       Date:  2004-09       Impact factor: 4.132

2.  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

3.  Smoking and the incidence of asthma during adolescence: results of a large cohort study in Germany.

Authors:  J Genuneit; G Weinmayr; K Radon; H Dressel; D Windstetter; P Rzehak; C Vogelberg; W Leupold; D Nowak; E von Mutius; S K Weiland
Journal:  Thorax       Date:  2006-03-14       Impact factor: 9.139

4.  Alpha-1 antitrypsin phenotypes in patients with Klinefelter's syndrome.

Authors:  Ruth Mikelsaar; Jelena Lissitsina; Kristo Ausmees; Margus Punab; Paul Korrovits; Eve Vaidla
Journal:  J Genet       Date:  2010-12       Impact factor: 1.166

5.  Clinical utility gene card for: α-1-antitrypsin deficiency.

Authors:  Sabina Janciauskiene; Ilaria Ferrarotti; Florian Laenger; Danny Jonigk; Maurizio Luisetti
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

Review 6.  Alpha-1 Antitrypsin Deficiency and Accelerated Aging: A New Model for an Old Disease?

Authors:  Diana Crossley; Robert Stockley; Elizabeth Sapey
Journal:  Drugs Aging       Date:  2019-09       Impact factor: 3.923

7.  [Alpha1-antitrypsin deficiency in Austria: analysis of the Austrian Alpha1-international-registry database].

Authors:  Florian Huber; Karin Schmid-Scherzer; Felix Wantke; Sophie Frantal; Meinhard Kneussl
Journal:  Wien Klin Wochenschr       Date:  2010-07-14       Impact factor: 1.704

8.  Real time PCR detection of the PI*Z and PI*S mutations associated with alpha-1 antitrypsin deficiency.

Authors:  Claudine L Bartels; Angela L Marchetti; W Edward Highsmith; Gregory J Tsongalis
Journal:  Am J Transl Res       Date:  2009-08-10       Impact factor: 4.060

9.  Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases.

Authors:  Koichi Fujimoto; Shinobu Ikeda; Tomio Arai; Noriko Tanaka; Toshio Kumasaka; Takeo Ishii; Kozui Kida; Masaaki Muramatsu; Motoji Sawabe
Journal:  BMC Med Genet       Date:  2010-11-10       Impact factor: 2.103

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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