CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity

@article{Blaisdell2004CLC2SN,
  title={CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity},
  author={C. Blaisdell and Timothy D. Howard and Augustus Stern and Penelope Bamford and Eugene Bleecker and Oscar Colin Stine},
  journal={BMC Medical Genetics},
  year={2004},
  volume={5},
  pages={26 - 26}
}
Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes… CONTINUE READING

References

Publications referenced by this paper.
Showing 1-10 of 46 references

CIC-2: a developmentally dependent chloride channel expressed in the fetal lung and downregulated after birth.

American journal of respiratory cell and molecular biology • 1995
View 7 Excerpts
Highly Influenced

Cloning of A Putative Human Voltage-Gated Chloride Channel (Cic-2) Cdna Widely Expressed in Human Tissues

LP Cid, C Montroserafizadeh, DI Smith, WB Guggino, GR Cutting
Human Molecular Genetics • 1995
View 5 Excerpts
Highly Influenced

Cystic fibrosis: a disease in electrolyte transport.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology • 1990
View 11 Excerpts
Highly Influenced

Endothelial nitric oxide synthase variants in cystic fibrosis lung disease

H Grasemann, KSV Gravesande, +5 authors F Ratjen
American Journal of Respiratory and Critical Care Medicine • 2003
View 1 Excerpt

Modifier genes in cystic fibrosis lung disease.

The Journal of laboratory and clinical medicine • 2003

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