Increased frequency of CFTR gene mutations in sarcoidosis: A case/control association study

European Journal of Human Genetics

Volumn 8, Issue 9, 2000, Pages 717-720

  Bombieri, Cristina ^a   Luisetti, Maurizio ^b   Belpinati, Francesca ^a   Zuliani, Elisa ^a   Beretta, Anna ^b   Baccheschi, Jordan ^b   Casali, Lucio ^b   Pignatti, Pier Franco ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

CFTR gene mutations; Cystic fibrosis; Genotype phenotype correlations; Pulmonary diseases; Sarcoidosis

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CASE CONTROL STUDY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RISK ASSESSMENT; RNA SPLICING; SARCOIDOSIS;

ADULT; ALTERNATIVE SPLICING; CASE-CONTROL STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; PROTEIN ISOFORMS; SARCOIDOSIS, PULMONARY;

EID: 0033818595     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200524     Document Type: Article

References (23)

1. Immunologic events in the development of interstitial lung disease: The paradigm of sarcoidosis
2. Susceptibility to autoimmune disease: A multigenic viewpoint
3. Prevalence of sarcoidosis around the world
4. Genetics of sarcoidosis
5. Sarcoidosis
6. The Blau syndrome gene is not a major risk factor for sarcoidosis
7. Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
8. CFTR gene mutations in sarcoidosis patients
9. Excess of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in sarcoidosis
10. Statement on Sarcoidosis
11. The chest roentgenology in sarcoidosis
12. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
13. Rapid characterization of both the variable length 5, 7, or 9 polythimidine (T) tract in intron 8 and the adjacent CA repeat unit of the CFTR gene: Use in DNA diagnosis
14. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
15. CFTR gene mutation in adults with disseminated bronchiectasis
16. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis
17. The diagnosis of cystic fibrosis: A consensus statement
18. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: Identification of 90% of the mutations
19. Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
20. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
21. Cystic fibrosis transmembrane conductance regulator is an epithelial cell receptor for clearance of Pseudomonas aeruginosa from the lung
22. Salmonella typhi uses CFTR to enter intestinal epithelial cells