Literature DB >> 7532152

Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.

A Artlich1, A Boysen, S Bunge, P Entzian, M Schlaak, E Schwinger.   

Abstract

The frequency of six common mutations in the cystic fibrosis transmembrane conductance regulator gene was studied in 100 patients hospitalized with chronic bronchitis. Only one patient with chronic bronchitis and diffuse bronchiectasis was heterozygous for the common delta F508 mutation. R553X, G542X, G551D, N1303K and 621 + 1G-->T were not detected. This result is not significantly different from the frequency of cystic fibrosis carriers in Northern Europe. Predisposition of heterozygotes for chronic bronchitis is therefore unlikely.

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Year:  1995        PMID: 7532152     DOI: 10.1007/bf00209408

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  14 in total

1.  Rapid nonradioactive detection of the major cystic fibrosis mutation.

Authors:  J Rommens; B S Kerem; W Greer; P Chang; L C Tsui; P Ray
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

2.  A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

Authors:  L Osborne; R Knight; G Santis; M Hodson
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

Review 3.  Universal community carrier screening for cystic fibrosis?

Authors:  R Williamson
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

4.  Mutation analysis in the diagnosis of cystic fibrosis.

Authors:  T Deufel; H Rabe; T Wieser; T Meitinger; J Rosenecker; R Bertele-Harms; K Harms; H B Hadorn; A A Roscher
Journal:  Eur J Pediatr       Date:  1993-11       Impact factor: 3.183

5.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; J Zielenski; L C Tsui; S E Antonarakis; H H Kazazian
Journal:  Nature       Date:  1990-07-26       Impact factor: 49.962

6.  Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; D Bozon; B Kerem; D Markiewicz; P Durie; J M Rommens; L C Tsui
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

7.  Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.

Authors:  A Augarten; B S Kerem; Y Yahav; S Noiman; Y Rivlin; A Tal; H Blau; L Ben-Tur; A Szeinberg; E Kerem
Journal:  Lancet       Date:  1993-07-03       Impact factor: 79.321

8.  Delta F508 mutation of cystic fibrosis gene is not found in chronic bronchitis with severe obstruction in Japan.

Authors:  S Akai; H Okayama; S Shimura; Y Tanno; H Sasaki; T Takishima
Journal:  Am Rev Respir Dis       Date:  1992-09

9.  Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease (COPD) and asthma. This official statement of the American Thoracic Society was adopted by the ATS Board of Directors, November 1986.

Authors: 
Journal:  Am Rev Respir Dis       Date:  1987-07

10.  Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course.

Authors:  W Poller; J P Faber; S Scholz; K Olek; K M Müller
Journal:  Klin Wochenschr       Date:  1991-09-16
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  6 in total

Review 1.  Genetics and pulmonary medicine. 9. Molecular genetics of chronic obstructive pulmonary disease.

Authors:  P J Barnes
Journal:  Thorax       Date:  1999-03       Impact factor: 9.139

2.  Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.

Authors:  P W Miller; A Hamosh; M Macek; P A Greenberger; J MacLean; S M Walden; R G Slavin; G R Cutting
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

Review 3.  Updates on the COPD gene list.

Authors:  Yohan Bossé
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2012-09-18

Review 4.  Cigarette Smoke-Induced Acquired Dysfunction of Cystic Fibrosis Transmembrane Conductance Regulator in the Pathogenesis of Chronic Obstructive Pulmonary Disease.

Authors:  Juan Shi; Hui Li; Chao Yuan; Meihui Luo; Jun Wei; Xiaoming Liu
Journal:  Oxid Med Cell Longev       Date:  2018-04-23       Impact factor: 6.543

5.  Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.

Authors:  S Vamsee Raju; Jody H Tate; Sandra K G Peacock; Ping Fang; Robert A Oster; Mark T Dransfield; Steven M Rowe
Journal:  Respir Res       Date:  2014-02-11

Review 6.  CFTR targeted therapies: recent advances in cystic fibrosis and possibilities in other diseases of the airways.

Authors:  Sheylan D Patel; Taylor R Bono; Steven M Rowe; George M Solomon
Journal:  Eur Respir Rev       Date:  2020-06-16
  6 in total

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