Lung disease associated with the IVS8 5T allele of the CFTR gene

American Journal of Respiratory and Critical Care Medicine

Volumn 162, Issue 5, 2000, Pages 1919-1924

  Noone, P G ^a   Pue, C A ^a   Zhou, Z ^a   Friedman, K J ^a   Wakeling, E L ^a   Ganeshananthan, M ^a   Simon, R H ^a   Silverman, L M ^a   Knowles, M R ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYSTIC FIBROSIS; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; LUNG DISEASE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY EPITHELIUM; SEQUENCE ANALYSIS; SYMPTOM;

EID: 0033724681     PISSN: 1073449X     EISSN: None     Source Type: Journal    
DOI: 10.1164/ajrccm.162.5.2003160     Document Type: Article

References (34)

1. Cystic fibrosis gene and functions of CFTR
2. Genetics, diagnosis and clinical phenotype
3. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
4. Congenital bilateral absence of the vas deferens: A primary genital form of cystic fibrosis
5. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
6. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
7. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
8. A test for the concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
9. The sweat gland
10. Defective beta adrenergic response of cystic fibrosis sweat glands in vivo and in vitro
11. Hyposecretion of beta-adrenergically induced sweating in cystic fibrosis heterozygotes
12. In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
13. A simple salting out procedure for extracting DNA from human nucleated cells
14. Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated sitedirected mutagenesis
15. Rapid characterization of the variable length polythimidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CF mutations and its incidence in atypical sinopulmonary disease
16. Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: Results of a collaborative study
17. Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification
18. A single tube PCR test for the diagnosis of Angleman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
19. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses
20. A mutation in CFTR produces different phenotypes depending on chromosomal background
21. Linkage disequilibrium between the M470V variant the IVS8 polyT alleles of the CFTR gene in CBAVD
22. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
23. Isodisomy of chromsosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
24. Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy
25. Uniparental disomy as a mechanism for human genetic disease
26. CFTR gene variant ICS8-5T indisseminated bronchiectasis
27. A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations
28. Relations between mutations of the cystic fibrosis gene and idiopathic pancreatitis
29. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
30. Molecular, cell physiologic and clinical characteristics of patients with idiopathic pancreatitis with and without mutations in the CFTR gene
31. Nasal epithelial ion transport and genetic analysis of infertile men with congenital absence of the vas deferens
32. Mild cystic fibrosis in a consanguineous family
33. A novel mutation in the cystic fibrosis gene in patients with pulmonary, disease but normal sweat chloride concentrations
34. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis