Search Results - "Drumm, M L"

Absence of the cystic fibrosis transmembrane regulator (Cftr) from myeloid-derived cells slows resolution of inflammation and infection by Bonfield, T. L., Hodges, C. A., Cotton, C. U., Drumm, M. L.

“…Cftr is directly involved in myeloid cell function, contributing to the pathophysiological phenotype of the CF lung. The absence or reduction of CFTR function…”
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A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis by Blackman, S. M., Hsu, S., Ritter, S. E., Naughton, K. M., Wright, F. A., Drumm, M. L., Knowles, M. R., Cutting, G. R.

“…Aims/hypothesis Insulin-requiring diabetes affects 25–50% of young adults with cystic fibrosis (CF). Although the cause of diabetes in CF is unknown, recent…”
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Understanding the population structure of North American patients with cystic fibrosis by Li, W, Sun, L, Corey, M, Zou, F, Lee, S, Cojocaru, AL, Taylor, C, Blackman, SM, Stephenson, A, Sandford, AJ, Dorfman, R, Drumm, ML, Cutting, GR, Knowles, MR, Durie, P, Wright, FA, Strug, LJ

“…Li W, Sun L, Corey M, Zou F, Lee S, Cojocaru AL, Taylor C, Blackman SM, Stephenson A, Sandford AJ, Dorfman R, Drumm ML, Cutting GR, Knowles MR, Durie P, Wright…”
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Expression of the cystic fibrosis transmembrane conductance regulator from a novel adeno-associated virus promoter by FLOTTE, T. R, AFIONE, S. A, SOLOW, R, DRUMM, M. L, MARKAKIS, D, GUGGINO, W. B, ZEITLIN, P. L, CARTER, B. J

“…Adeno-associated virus type 2 (AAV) vectors have been used for gene expression in respiratory epithelial cells and may be useful in gene therapy for diseases…”
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Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping by Rommens, Johanna M., Iannuzzi, Michael C., Kerem, Bat-sheva, Drumm, Mitchell L., Melmer, Georg, Dean, Michael, Rozmahel, Richard, Cole, Jeffery L., Kennedy, Dara, Hidaka, Noriko, Zsiga, Martha, Buchwald, Manuel, Riordan, John R., Tsui, Lap-Chee, Collins, Francis S.

“…An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning of the cystic fibrosis gene and definition of its protein…”
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Genetic Modifiers of Lung Disease in Cystic Fibrosis by Drumm, Mitchell L, Konstan, Michael W, Schluchter, Mark D, Handler, Allison, Pace, Rhonda, Zou, Fei, Zariwala, Maimoona, Fargo, David, Xu, Airong, Dunn, John M, Darrah, Rebecca J, Dorfman, Ruslan, Sandford, Andrew J, Corey, Mary, Zielenski, Julian, Durie, Peter, Goddard, Katrina, Yankaskas, James R, Wright, Fred A, Knowles, Michael R

“…It is well known that among patients with cystic fibrosis who have the ΔF508 deletion mutation, there is substantial variation in the severity of clinical…”
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Modulation of cystic fibrosis lung disease by variants in interleukin-8 by Hillian, A D, Londono, D, Dunn, J M, Goddard, K A B, Pace, R G, Knowles, M R, Drumm, M L

“…Cystic fibrosis pulmonary disease is characterized by excessive and prolonged inflammation. CF Pulmonary disease severity exhibits considerable variation that,…”
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CFTR-mediated chloride permeability is regulated by type III phosphodiesterases in airway epithelial cells by Kelley, T J, al-Nakkash, L, Drumm, M L

“…Chloride channel activity of cystic fibrosis transmembrane conductance regulator (CFTR) requires activation of protein kinase A (PKA) by 3'-5'-cyclic adenosine…”
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The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice by Jin, R, Hodges, C A, Drumm, M L, Palmert, M R

“…Background: Delayed puberty is common among individuals with cystic fibrosis (CF) and is usually attributed to chronic disease and/or poor nutrition. However,…”
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Pitfall in the Use of Genotype Analysis as the Sole Diagnostic Criterion for Cystic Fibrosis by Chmiel, James F, Drumm, Mitchell L, Konstan, Michael W, Ferkol, Thomas W, Kercsmar, Carolyn M

“…In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the…”
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Inducible nitric oxide synthase expression is reduced in cystic fibrosis murine and human airway epithelial cells by Kelley, T J, Drumm, M L

“…It has been reported that exhaled nitric oxide levels are reduced in cystic fibrosis (CF) patients. We have examined the inducible isoform of nitric oxide…”
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Rectification of whole cell cystic fibrosis transmembrane conductance regulator chloride current by Overholt, J L, Saulino, A, Drumm, M L, Harvey, R D

“…Whole cell epithelial cystic fibrosis transmembrane conductance regulator (CFTR) Cl- currents exhibited a linear current-voltage (I-V) relationship with high…”
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Construction of a General Human Chromosome Jumping Library, with Application to Cystic Fibrosis by Collins, Francis S., Drumm, Mitchell L., Cole, Jeffery L., Lockwood, Wendy K., George F. Vande Woude, Iannuzzi, Michael C.

“…In many genetic disorders, the responsible gene and its protein product are unknown. The technique known as ``reverse genetics,'' in which chromosomal map…”
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Chromosome Jumping from D4S10 (G8) toward the Huntington Disease Gene by Richards, Julia E., Gilliam, T. Conrad, Cole, Jeffery L., Drumm, Mitchell L., Wasmuth, John J., Gusella, James F., Collins, Francis S.

“…The gene for Huntington disease (HD) has been localized to the distal portion of the short arm of human chromosome 4 by linkage analysis. Currently, the two…”
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Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8 by IANNUZZI, M. C, DEAN, M, DRUMM, M. L, HIDAKA, N, COLE, J. L, PERRY, A, STEWART, C, GERRARD, B, COLLINS, F. S

“…The cystic fibrosis (CF) locus has been located, by both linkage analysis and physical mapping, to a 900-kb region of 7q22-31 flanked by D7S8 (J3.11) and D7S23…”
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Modifier genes and variation in cystic fibrosis by Drumm, M L

“…The availability of molecular tools to carry out genotyping has led to a flurry of association studies between specific genes and clinical indices of disease…”
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Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA by Riordan, John R., Rommens, Johanna M., Kerem, Bat-sheva, Alon, Noa, Rozmahel, Richard, Grzelczak, Zbyszko, Zielenski, Julian, Lok, Si, Plavsic, Natasa, Chou, Jia-Ling, Drumm, Mitchell L., Iannuzzi, Michael C., Collins, Francis S., Tsui, Lap-Chee

“…Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic…”
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Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs in Xenopus Oocytes by Drumm, Mitchell L., Wilkinson, Daniel J., Smit, Lisa S., Worrell, Roger T., Strong, Theresa V., Frizzell, Raymond A., Dawson, David C., Collins, Francis S.

“…The cystic fibrosis transmembrane conductance regulator (CFTR) is associated with expression of a chloride conductance that is defective in cystic fibrosis…”
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In vivo Activation of the Cystic Fibrosis Transmembrane Conductance Regulator Mutant Δ F508 in Murine Nasal Epithelium by Kelley, Thomas J., Thomas, Kirk, Laura J. H. Milgram, Drumm, Mitchell L.

“…The gene causing cystic fibrosis (CF) encodes the CF transmembrane conductance regulator (CFTR), a cAMP-regulated chloride channel. Mutations in this gene…”
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Function of the R Domain in the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel by Ma, Jianjie, Zhao, Jiying, Drumm, Mitchell L., Xie, Junxia, Davis, Pamela B.

“…For a cystic fibrosis transmembrane conductance regulator (CFTR) channel to enter its open state, serine residues in the R domain must be phosphorylated by…”
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