Garry Cutting

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. pmc Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis
    Lindsay A Bremer
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Hum Mol Genet 17:2228-37. 2008
  2. pmc Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
    Patrick R Sosnay
    1 Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA 2 Perdana University Graduate School of Medicine, Serdang, Malaysia 3 McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Nat Genet 45:1160-7. 2013
  3. pmc Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis
    Lindsay B Henderson
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    PLoS Genet 8:e1002580. 2012
  4. pmc Annotating DNA variants is the next major goal for human genetics
    Garry R Cutting
    McKusick Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA Electronic address
    Am J Hum Genet 94:5-10. 2014
  5. pmc Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients
    Deanna M Green
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Respir Res 11:140. 2010
  6. ncbi request reprint Genetics and pediatric diseases
    Garry Cutting
    Johns Hopkins University, Baltimore, Maryland, USA
    J Pediatr Gastroenterol Nutr 40:S44. 2005
  7. ncbi request reprint Modifier genetics: cystic fibrosis
    Garry R Cutting
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 3914, USA
    Annu Rev Genomics Hum Genet 6:237-60. 2005
  8. ncbi request reprint Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency
    Stephanie C Hsu
    Department of Pediatric Endocrinology, Johns Hopkins University, 733 North Broadway, Suite 551, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 92:3941-8. 2007
  9. pmc Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis
    Joshua D Groman
    Cyctic Fibrosis Foundation Genotyping Center and McKusick Nathans Institute of Genetic Medicine, Bloomberg School of Public Health, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, MD 21287, USA
    J Pediatr 146:675-80. 2005
  10. pmc Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease
    J Michael Collaco
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    JAMA 299:417-24. 2008

Research Grants

  1. Genetic Modifiers of Cystic Fibrosis: Sibling Study
    Garry Cutting; Fiscal Year: 2005
  2. MOLECULAR GENETICS OF CYSTIC FIBROSIS
    Garry Cutting; Fiscal Year: 2007
  3. Postdoctoral Medical Genetics Training Grant
    Garry Cutting; Fiscal Year: 2007
  4. Genetic Modifiers of CF: Sibling Study
    Garry Cutting; Fiscal Year: 2007
  5. MOLECULAR GENETICS OF CYSTIC FIBROSIS
    Garry Cutting; Fiscal Year: 2002
  6. MOLECULAR GENETICS OF CYSTIC FIBROSIS
    Garry Cutting; Fiscal Year: 1993
  7. Genetic Modifiers of CF: Sibling Study
    Garry R Cutting; Fiscal Year: 2010

Detail Information

Publications42

  1. pmc Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis
    Lindsay A Bremer
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Hum Mol Genet 17:2228-37. 2008
    ..These results demonstrate that TGFB1 is a modifier of CF lung disease and reveal a previously unrecognized beneficial effect of TGFB1 variants upon the pulmonary phenotype...
  2. pmc Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
    Patrick R Sosnay
    1 Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA 2 Perdana University Graduate School of Medicine, Serdang, Malaysia 3 McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Nat Genet 45:1160-7. 2013
    ..This study illustrates that sourcing data directly from well-phenotyped subjects can address the gap in our ability to interpret clinically relevant genomic variation. ..
  3. pmc Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis
    Lindsay B Henderson
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    PLoS Genet 8:e1002580. 2012
    ..Identification of MSRA as a modifier of MI provides new insight into the biologic mechanism of neonatal intestinal obstruction caused by loss of CFTR function...
  4. pmc Annotating DNA variants is the next major goal for human genetics
    Garry R Cutting
    McKusick Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA Electronic address
    Am J Hum Genet 94:5-10. 2014
    ..Generation of variant annotations will inform genetic testing and will deepen our understanding of gene and protein function, thereby aiding the search for molecular targeted therapies. ..
  5. pmc Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients
    Deanna M Green
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Respir Res 11:140. 2010
    ..Understanding the role of CFTR in the acquisition of organisms first detected in patients may help guide symptomatic and molecular-based treatment for CF...
  6. ncbi request reprint Genetics and pediatric diseases
    Garry Cutting
    Johns Hopkins University, Baltimore, Maryland, USA
    J Pediatr Gastroenterol Nutr 40:S44. 2005
  7. ncbi request reprint Modifier genetics: cystic fibrosis
    Garry R Cutting
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 3914, USA
    Annu Rev Genomics Hum Genet 6:237-60. 2005
    ..Identifying the factors contributing to variation in pulmonary disease, the primary cause of mortality, remains a challenge for CF research...
  8. ncbi request reprint Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency
    Stephanie C Hsu
    Department of Pediatric Endocrinology, Johns Hopkins University, 733 North Broadway, Suite 551, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 92:3941-8. 2007
    ..The mechanism by which these mutations lead to the AHO phenotype has been difficult to establish due to the inaccessibility of the affected tissues...
  9. pmc Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis
    Joshua D Groman
    Cyctic Fibrosis Foundation Genotyping Center and McKusick Nathans Institute of Genetic Medicine, Bloomberg School of Public Health, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, MD 21287, USA
    J Pediatr 146:675-80. 2005
    ....
  10. pmc Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease
    J Michael Collaco
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    JAMA 299:417-24. 2008
    ..Disease variation can be substantial even in conditions with a single gene etiology such as cystic fibrosis (CF). Simultaneously studying the effects of genes and environment may provide insight into the causes of variation...
  11. ncbi request reprint Evidence for asthma susceptibility genes on chromosome 11 in an African-American population
    Shau Ku Huang
    Johns Hopkins Asthma and Allergy Center, Johns Hopkins University School of Medicine, 5501 Hopkins Bayview Circle, MD 21224 6801, Baltimore, USA
    Hum Genet 113:71-5. 2003
    ..8 cM with a confidence interval spanning the linkage peak. Evidence from both linkage and association analyses suggest that this region of chromosome 11 contains one or more susceptibility genes for asthma in these AA families...
  12. ncbi request reprint Variant cystic fibrosis phenotypes in the absence of CFTR mutations
    Joshua D Groman
    McKusick Nathans Institute of Genetic Medicine and Cystic Fibrosis Foundation Genotyping Center, Johns Hopkins University School of Medicine, Baltimore, USA
    N Engl J Med 347:401-7. 2002
    ..We assessed whether alteration in CFTR function is responsible for the entire spectrum of variant cystic fibrosis phenotypes...
  13. pmc Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships
    Kristina V Krasnov
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
    Hum Mutat 29:1364-72. 2008
    ..Our results emphasize that localization studies in relevant model systems can greatly assist the interpretation of the disease-causing potential of rare missense mutations...
  14. pmc Location and duration of treatment of cystic fibrosis respiratory exacerbations do not affect outcomes
    J Michael Collaco
    Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, 200 N Wolfe Street, David M Rubenstein Building, 3rd Floor, Baltimore, MD 21287, USA
    Am J Respir Crit Care Med 182:1137-43. 2010
    ..The optimal means of delivering therapy remains unclear...
  15. ncbi request reprint Optimized regulation of gene expression using artificial transcription factors
    Reza Yaghmai
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, 600 North Wolfe St, Blalock 1008, Baltimore, Maryland 21287 4922, USA
    Mol Ther 5:685-94. 2002
    ..Our observations and our optimization approach have substantial implications for designing safe and effective artificial transcription factors for cell-based and therapeutic uses...
  16. pmc Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
    Joshua D Groman
    Training Program in Human Genetics, McKusick Nathans Institute of Genetic Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 74:176-9. 2004
    ..0, 95% CI 11.1-103.7, P<.00001). Thus, determination of TG repeat number will allow for more accurate prediction of benign versus pathogenic 5T alleles...
  17. pmc Heritability of lung disease severity in cystic fibrosis
    Lori L Vanscoy
    Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Respir Crit Care Med 175:1036-43. 2007
    ..Obstructive lung disease, the major cause of mortality in cystic fibrosis (CF), is poorly correlated with mutations in the disease-causing gene, indicating that other factors determine severity of lung disease...
  18. ncbi request reprint Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    Xinjing Wang
    Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Clin Chem 48:1121-3. 2002
  19. ncbi request reprint A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression
    Jie Cheng
    Department of Physiology and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Biol Chem 277:3520-9. 2002
    ..Thus, the regulation of CFTR in the plasma membrane involves the dynamic interaction between at least two PDZ domain proteins...
  20. pmc A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing
    Timothy W Hefferon
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, CMSC 9 123, Baltimore, MD 21287, USA
    Proc Natl Acad Sci U S A 101:3504-9. 2004
    ..Taken together, these data indicate that dinucleotide repeats can form secondary structures that have variable effects on RNA splicing efficiency and clinical phenotype...
  21. pmc Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis
    Scott M Blackman
    Division of Pediatric Endocrinology, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 94:1302-9. 2009
    ....
  22. ncbi request reprint Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation
    Xinjing Wang
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Arch Otolaryngol Head Neck Surg 131:237-40. 2005
    ..Cystic fibrosis is an inherited recessive disorder that invariably affects the sinuses. The frequency of CF mutations has been reported to be higher in patients with CRS than in unaffected controls...
  23. pmc Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis
    Scott M Blackman
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21287, USA
    Gastroenterology 131:1030-9. 2006
    ..Our aim was to determine the relative contribution of genetic and nongenetic modifiers to the development of this major complication of CF...
  24. pmc Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis
    Kitti Buranawuti
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine Baltimore, Maryland, USA
    J Med Genet 44:209-14. 2007
    ..Patients with cystic fibrosis with the same mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene differ widely in survival suggesting other factors have a substantial role in mortality...
  25. pmc Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function
    J Michael Collaco
    Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, Baltimore, MD 21205, USA
    J Pediatr 157:802-7.e1-3. 2010
    ..To assess the relative contributions of environmental and genetic factors to variation in cystic fibrosis (CF) lung disease...
  26. ncbi request reprint Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome
    Molly B Sheridan
    1McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Hum Mol Genet 14:3493-8. 2005
    ..We report two non-classic CF patients without CFTR mutations who have novel deleterious mutations in the beta-subunits of SCNN1 in the absence of overt renal disease...
  27. ncbi request reprint Aggregation of misfolded proteins can be a selective process dependent upon peptide composition
    Michal I Milewski
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Baltimore, MD 21287, USA
    J Biol Chem 277:34462-70. 2002
    ..Thus, our results indicate that the process of intracellular aggregation can be a selective process determined by the composition of the aggregating peptides...
  28. ncbi request reprint PDZ-binding motifs are unable to ensure correct polarized protein distribution in the absence of additional localization signals
    Michał I Milewski
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
    FEBS Lett 579:483-7. 2005
    ..Our results indicate that the C-terminal PDZ-binding motifs are not the primary signals for polarized protein distribution, although they are required for targeting and/or stabilization of protein at the given location...
  29. pmc Update on gene modifiers in cystic fibrosis
    Joseph M Collaco
    Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
    Curr Opin Pulm Med 14:559-66. 2008
    ..Identifying these factors is crucial in devising therapies and other interventions to decrease the morbidity and mortality associated with this disorder...
  30. pmc CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR
    Molly B Sheridan
    McKusick Nathans Institute of Genetic Medicine, 733 North Broadway, Johns Hopkins Medical Institutions, Baltimore, MD 21205, USA
    J Med Genet 48:235-41. 2011
    ..However, the role of dysfunctional CFTR is uncertain in individuals with mild forms of CF (ie, pancreatic sufficiency) and mutation in only one CFTR gene...
  31. ncbi request reprint Recurrent and destructive nasal polyposis in 2 siblings: a possible case of Woakes' syndrome
    Joshua D Groman
    McKusick Nathans Institute of Genetic Medicine and Cystic Fibrosis Foundation Genotyping Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Otolaryngol Head Neck Surg 131:1009-11. 2004
  32. pmc Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping
    Timothy W Hefferon
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Am J Hum Genet 71:294-303. 2002
    ..Thus, careful inspection of entire 5' splice sites may identify constitutive exons that are vulnerable to skipping...
  33. pmc Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis
    Kathryn E McDougal
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Eur J Hum Genet 18:680-4. 2010
    ..Thus, use of a modeling framework that identified confounding among disease variables revealed that variation in MBL2 associates with age at infection with Pa and age at conversion to mucoid Pa in CF...
  34. ncbi request reprint PDZ domain interaction controls the endocytic recycling of the cystic fibrosis transmembrane conductance regulator
    Agnieszka Swiatecka-Urban
    Dartmouth Medical School, Department of Physiology, Hanover, New Hampshire 03755, USA
    J Biol Chem 277:40099-105. 2002
    ..Our results identify a new role for PDZ proteins in regulating the endocytic recycling of CFTR in polarized epithelial cells...
  35. ncbi request reprint Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis
    Juan F Gallegos-Orozco
    Division of Transplantation Medicine, Mayo Clinic, Scottsdale, Arizona 85259, USA
    Am J Gastroenterol 100:874-8. 2005
    ..We sought to determine if PSC patients have a higher frequency of common CF alleles than disease controls...
  36. ncbi request reprint The Cystic Fibrosis mutation "arms race": when less is more
    Wayne W Grody
    Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095 1732, USA
    Genet Med 9:739-44. 2007
  37. ncbi request reprint Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
    Claude Ferec
    INSERM, U613 Génétique Moléculaire et Génétique Epidémiologique, Brest, France
    Eur J Hum Genet 14:567-76. 2006
    ....
  38. ncbi request reprint Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis
    Anabela S Ramalho
    Centro de Genética Humana, Instituto Nacional de Saude, Lisboa, Portugal
    Am J Respir Cell Mol Biol 27:619-27. 2002
    ..7 +/- 0.45% of the normal level of wild-type CFTR mRNA. Because these patients have mild CF compared with F508del homozygotes, this CFTR mRNA level appears to be sufficient to avoid the severe complications of the disease...
  39. pmc Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
    Michael S Watson
    ACMG Cystic Fibrosis Carrier Screening Work Group, American College of Medical Genetics, Bethesda, Maryland 20814, USA
    Genet Med 6:387-91. 2004
  40. ncbi request reprint Quantitative methods for the analysis of CFTR transcripts/splicing variants
    Margarida D Amaral
    Department of Chemistry and Biochemistry, University of Lisboa, Lisboa, Portugal
    J Cyst Fibros 3:17-23. 2004
    ..Various protocols for the quantitative analysis of CFTR transcripts (including those resulting from splicing variants) are described and discussed here...
  41. pmc Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
    Deyanira Corzo
    Division of Genetics, The Children s Hospital, Boston, Massachusetts, USA
    Am J Hum Genet 70:1520-31. 2002
    ..The three patients with CADDS who are described here have important implications for genetic counseling, because individuals with CADDS may previously have been misdiagnosed as having an autosomal recessive PBD or SED..
  42. pmc Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
    Philip M Farrell
    Department of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
    J Pediatr 153:S4-S14. 2008
    ..Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF...

Research Grants25

  1. Genetic Modifiers of Cystic Fibrosis: Sibling Study
    Garry Cutting; Fiscal Year: 2005
    ..To identify novel loci, genome-wide scans will be performed upon sib pairs selected for extreme concordance or discordance for heritable traits. ..
  2. MOLECULAR GENETICS OF CYSTIC FIBROSIS
    Garry Cutting; Fiscal Year: 2007
    ..3) Determine whether defects in components of the cAMP-activation pathway alters CFTR function and creates a CF phenotype. ..
  3. Postdoctoral Medical Genetics Training Grant
    Garry Cutting; Fiscal Year: 2007
    ..The operational assistance provided by Ms. Gilbert allows the Program Director to maintain strong focus on the development of outstanding researchers in Genetic Medicine. ..
  4. Genetic Modifiers of CF: Sibling Study
    Garry Cutting; Fiscal Year: 2007
    ..Aim 3. To refine estimates of the contribution of genetic and non-genetic factors to variation in CF phenotypes by prospective longitudinal analysis. ..
  5. MOLECULAR GENETICS OF CYSTIC FIBROSIS
    Garry Cutting; Fiscal Year: 2002
    ....
  6. MOLECULAR GENETICS OF CYSTIC FIBROSIS
    Garry Cutting; Fiscal Year: 1993
    ....
  7. Genetic Modifiers of CF: Sibling Study
    Garry R Cutting; Fiscal Year: 2010
    ..Aim 3. To refine estimates of the contribution of genetic and non-genetic factors to variation in CF phenotypes by prospective longitudinal analysis. ..