Garry Cutting, M.D.
Professor of Pediatrics and Institute of Genetic Medicine
Room 559, Broadway Research Building
- Determining CFTR genotype in phenotypes that overlap with cystic fibrosis (atypical CF, chronic sinusitis, male infertility and obstructive lung diseases)
- Identifying genetic variants that contribute to chronic lung disease by linkage and candidate gene approaches
- Determining the biological role of the CFTR protein by identifying mutations in patients with CF characterization
- CFTR transcripts and protein from patients of various genotypes and analysis of chloride conduction properties
- Mutated CFTR expressed in various cell types
- Structure/function analysis of chloride channels expressed in epithelial tissues and retinal neurons
- Krasnov KV, Tzetis M, Cheng J, Guggino WB, Cutting GR. Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships. Hum Mutat. 2008 Nov;29(11):1364-72.
- Bremer LA, Blackman SM, Vanscoy LL, McDougal KE, Bowers A, Naughton KM, Cutler DJ, Cutting GR. Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Hum Mol Genet. 2008 Jul 15;17(14):2228-37. Epub 2008 Apr 17.
- Collaco JM, Vanscoy L, Bremer L, McDougal K, Blackman SM, Bowers A, Naughton K, Jennings J, Ellen J, Cutting GR. Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease. JAMA. 2008 Jan 30;299(4):417-24.
- Hsu SC, Groman JD, Merlo CA, Naughton K, Zeitlin PL, Germain-Lee EL, Boyle MP, Cutting GR. Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency. J Clin Endocrinol Metab. 2007 Oct;92(10):3941-8. Epub 2007 Jul 24.
- Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, Hamosh A, Cutler D, Cutting GR. Heritability of lung disease severity in cystic fibrosis. Am J Respir Crit Care Med. 2007 May 15;175(10):1036-43.
- Buranawuti K, Boyle MP, Cheng S, Steiner LL, McDougal K, Fallin MD, Merlo C, Zeitlin PL, Rosenstein BJ, Mogayzel PJ Jr, Wang X, Cutting GR. Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis. J Med Genet. 2007 Mar;44(3):209-14.
- Blackman SM, Deering-Brose R, McWilliams R, Naughton K, Coleman B, Lai T, Algire M, Beck S, Hoover-Fong J, Hamosh A, Fallin MD, West K, Arking DE, Chakravarti A, Cutler DJ, Cutting GR. Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology. 2006 Oct;131(4):1030-9.
- Cutting GR. Cystic Fibrosis: using genetic association to identify modifiers of disease variability in cystic fibrosis. Eur J Hum Genet. 2006 Aug;14(8):890-1.
- Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet. 2005 Nov 15;14(22):3493-8.
- Cutting GR. Modifier genetics: cystic fibrosis. Annu Rev Genomics Hum Genet. 2005;6:237-60. Review.
- Groman JD, Karczeski B, Sheridan M, Robinson TE, Fallin MD, Cutting GR. Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.
J Pediatr. 2005 May;146(5):675-80.
- Milewski MI, Lopez A, Jurkowska M, Larusch J, Cutting GR. PDZ-binding motifs are unable to ensure correct polarized protein distribution in the absence of additional localization signals. FEBS Lett. 2005 Jan 17;579(2):483-7.
- Hefferon TW, Groman JD, Yurk CE, Cutting GR. A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3504-9.
- 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. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet. 2004 Jan;74(1):176-9.
- Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med. 2002 Aug 8;347(6):401-7.