Cutting GR - Search Results

1

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Joynt AT, Evans TA, Pellicore MJ, Davis-Marcisak EF, Aksit MA, Eastman AC, Patel SU, Paul KC, Osorio DL, Bowling AD, Cotton CU, Raraigh KS, West NE, Merlo CA, Cutting GR, Sharma N. Joynt AT, et al. Among authors: cutting gr. PLoS Genet. 2020 Oct 21;16(10):e1009100. doi: 10.1371/journal.pgen.1009100. eCollection 2020 Oct. PLoS Genet. 2020. PMID: 33085659 Free PMC article.

2

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.

3

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.

4

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.

5

Spectrum of mutations in cystic fibrosis.

Cutting GR. Cutting GR. J Bioenerg Biomembr. 1993 Feb;25(1):7-10. doi: 10.1007/BF00768062. J Bioenerg Biomembr. 1993. PMID: 7680032 Review.

6

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.

Macek M Jr, Macek M Sr, Krebsová A, Nash E, Hamosh A, Reis A, Varon-Mateeva R, Schmidtke J, Maestri NE, Sperling K, Krawczak M, Cutting GR. Macek M Jr, et al. Among authors: cutting gr. Hum Genet. 1997 May;99(5):565-72. doi: 10.1007/s004390050407. Hum Genet. 1997. PMID: 9150719

7

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR. Hefferon TW, et al. Among authors: cutting gr. Am J Hum Genet. 2002 Aug;71(2):294-303. doi: 10.1086/341664. Epub 2002 Jun 13. Am J Hum Genet. 2002. PMID: 12068373 Free PMC article.

8

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Among authors: cutting gr. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.

9

A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.

Hefferon TW, Groman JD, Yurk CE, Cutting GR. Hefferon TW, et al. Among authors: cutting gr. Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3504-9. doi: 10.1073/pnas.0400182101. Epub 2004 Mar 1. Proc Natl Acad Sci U S A. 2004. PMID: 14993601 Free PMC article.

10

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Sheridan MB, et al. Among authors: cutting gr. Hum Mol Genet. 2005 Nov 15;14(22):3493-8. doi: 10.1093/hmg/ddi374. Epub 2005 Oct 5. Hum Mol Genet. 2005. PMID: 16207733

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