Cutting GR - Search Results

1

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Sosnay PR, et al. Among authors: cutting gr. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.

2

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

Macek M Jr, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein BJ, Cutting GR. Macek M Jr, et al. Among authors: cutting gr. Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608. Hum Mutat. 1992. PMID: 1284542 No abstract available.

3

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.

Hamosh A, Rosenstein BJ, Cutting GR. Hamosh A, et al. Among authors: cutting gr. Hum Mol Genet. 1992 Oct;1(7):542-4. doi: 10.1093/hmg/1.7.542. Hum Mol Genet. 1992. PMID: 1284888 No abstract available.

4

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C. Cutting GR, et al. Am J Hum Genet. 1992 Jun;50(6):1185-94. Am J Hum Genet. 1992. PMID: 1376017 Free PMC article.

5

Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.

McIntosh I, Cutting GR. McIntosh I, et al. Among authors: cutting gr. FASEB J. 1992 Jul;6(10):2775-82. doi: 10.1096/fasebj.6.10.1378801. FASEB J. 1992. PMID: 1378801 Review.

6

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.

Chu CS, Trapnell BC, Curristin SM, Cutting GR, Crystal RG. Chu CS, et al. Among authors: cutting gr. J Clin Invest. 1992 Sep;90(3):785-90. doi: 10.1172/JCI115952. J Clin Invest. 1992. PMID: 1381723 Free PMC article.

7

Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium.

Montrose-Rafizadeh C, Blackmon DL, Hamosh A, Oliva MM, Hawkins AL, Curristin SM, Griffin CA, Yang VW, Guggino WB, Cutting GR, et al. Montrose-Rafizadeh C, et al. Among authors: cutting gr. J Biol Chem. 1992 Sep 25;267(27):19299-305. J Biol Chem. 1992. PMID: 1382071 Free article.

8

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr. Cutting GR, et al. Nature. 1990 Jul 26;346(6282):366-9. doi: 10.1038/346366a0. Nature. 1990. PMID: 1695717

9

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR. Hamosh A, et al. Among authors: cutting gr. J Clin Invest. 1991 Dec;88(6):1880-5. doi: 10.1172/JCI115510. J Clin Invest. 1991. PMID: 1721624 Free PMC article.

10

Differences in expression of cystic fibrosis in blacks and whites.

McColley SA, Rosenstein BJ, Cutting GR. McColley SA, et al. Among authors: cutting gr. Am J Dis Child. 1991 Jan;145(1):94-7. doi: 10.1001/archpedi.1991.02160010100025. Am J Dis Child. 1991. PMID: 1985439

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