PMID: 9843756

Illek B, Fischer H, Machen TE
Genetic disorders of membrane transport. II. Regulation of CFTR by small molecules including HCO3-.
Am J Physiol. 1998 Dec;275(6 Pt 1):G1221-6., [PubMed]
Sentences
No. Mutations Sentence Comment
95 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9843756:95:81
status: NEW
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 Some mutations lead to trafficking-competent, but misfunctional, proteins (e.g., G551D-CFTR; Ref. 40). Login to comment 99 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9843756:99:39
status: NEW
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 In addition, the trafficking-competent G551D-CFTR mutant expressed in fibroblasts was stimulated by the combination of genistein and forskolin when forskolin alone was ineffective (9). Login to comment 102 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9843756:102:90
status: NEW
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 IBMX produced a small, CFTR-related secretory response in jejunum, cecum, and rectum from G551D mice but had no effect in the nasal epithelium (36). Login to comment 103 ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 9843756:103:50
status: NEW
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 NS-004 restored near normal channel activity from P574H-CFTR (a mild, trafficking-impaired mutation in NBD1) (3). Login to comment