PMID: 15039139

Hentchel-Franks K, Lozano D, Eubanks-Tarn V, Cobb B, Fan L, Oster R, Sorscher E, Clancy JP
Activation of airway cl- secretion in human subjects by adenosine.
Am J Respir Cell Mol Biol. 2004 Aug;31(2):140-6. Epub 2004 Mar 23., [PubMed]
Sentences
No. Mutations Sentence Comment
124 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15039139:124:339
status: NEW
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 Demographic information in normal subjects and in subjects with CF Condition Normal Subjects Subjects with CF Mean age, yr 30.9 22.9 Age range, yr 17-47 15-29 Sex Female 35 Female 6 Male 15 Male 4 Ethnicity African-American 11 African-American 0 Asian 0 Asian 0 White 39 White 10 Genotype (CF) N/A ⌬F508/⌬F508 9 ⌬F508/G551D 1 mean age than the CF group. Login to comment 186 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15039139:186:245
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15039139:186:261
status: NEW
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 The nature of this effect is unknown, but previous studies from our laboratory have shown that Ado stimulation of A2B ARs can activate surface localized mutant CFTR molecules, including ⌬F508 CFTR after growth at permissive temperatures, G551D CFTR, and R117H CFTR (15, 32). Login to comment