ABCMdb

PMID: 10952679

Mall M, Wissner A, Seydewitz HH, Hubner M, Kuehr J, Brandis M, Greger R, Kunzelmann K
Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus oocytes.
Br J Pharmacol. 2000 Aug;130(8):1884-92., [PubMed]

Sentences

No. Mutations Sentence Comment

26 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Eight CF patients presenting with nasal polyps were tested for six common mutations: DF508, R553X, N1303K, G542X, G551D and R347P. Login to comment 27 ABCC7 p.Gly551Asp The following genotypes were identi®ed: DF508/ DF508 (n=3); DF508/G551D (n=1); DF508/7(n=2);7/7 (n=2) (7=mutation not identi®ed). Login to comment 30 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Thr338Ile ABCC7 p.Gln552* ABCC7 p.Ile336Lys ABCC7 p.Ser108Phe In all CF patients from whom rectal biopsies were studied DNA analysis was carried out for the following CFTR mutations: DF508; R117H and S108F in exon 4; R347P, R347H, I336K and T338I in exon 7; S549N, G551D, R553X, G542X, Q552X, 1717-1 G?A in exon 11; W1282X and 3905insT in exon 20; N1303K in exon 21 and 3849+10kB C?T in intron 19. Login to comment 31 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys Screening for these mutations identi®ed the genotypes as follows: DF508/DF508 (n=2); DF508/R553X (n=3); DF508/N1303K (n=1); DF508/3905insT (n=1); DF508/7(n=5) (7=mutation not identi®ed). Login to comment 224 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys In the present study we examined the eect of genistein on tissues derived from CF patients carrying DF508 CFTR on at least one allele and some patients were shown to be compound heterozygous with a second severe mutation (R553X, N1303K, 3905insT, G551D). Login to comment