J
Jeffery L. Cole
Researcher at University of Michigan
Publications - 15
Citations - 4636
Jeffery L. Cole is an academic researcher from University of Michigan. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 15, co-authored 15 publications receiving 4508 citations. Previous affiliations of Jeffery L. Cole include Howard Hughes Medical Institute.
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Journal ArticleDOI
Identification of the cystic fibrosis gene: Chromosome walking and jumping
Johanna M. Rommens,Michael C. Iannuzzi,Batsheva Kerem,Mitchell L. Drumm,Georg Melmer,Michael Dean,Richard Rozmahel,Jeffery L. Cole,Dara Kennedy,Noriko Hidaka,Martha Zsiga,Manuel Buchwald,John R. Riordan,Lap-Chee Tsui,Francis S. Collins +14 more
TL;DR: Several transcribed sequences and conserved segments were identified in this cloned region and one corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.
Journal ArticleDOI
Identification of the cystic fibrosis gene: Chromosome walking and jumping
Johanna M. Rommens,Michael C. Iannuzzi,Batsheva Kerem,Mitchell L. Drumm,Georg Melmer,Michael Dean,Richard Roxmahel,Jeffery L. Cole,Dara Kennedy,Noriko Hidaka,Martha Zsiga,Manuel Buchwald,John R. Riordan,Lap-Chee Tsui,Francis S. Collins +14 more
TL;DR: Several transcribed sequences and conserved segments were identified in this cloned region and one corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.
Journal ArticleDOI
Construction of a General Human Chromosome Jumping Library, with Application to Cystic Fibrosis
Francis S. Collins,Mitchell L. Drumm,Jeffery L. Cole,Wendy K. Lockwood,George F. Vande Woude,Michael C. Iannuzzi +5 more
TL;DR: A general human chromosome jumping library was constructed that allows the cloning of DNA sequences approximately 100 kilobases away from any starting point in genomic DNA, and should now be applicable to any genetic locus for which a closely linked DNA marker is available.
Journal ArticleDOI
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels
Theresa V. Strong,Lisa S. Smit,Steven V. Turpin,Jeffery L. Cole,Catherine Tom Hon,Danuta Markiewicz,Thomas L. Petty,Michael W. Craig,Edward C. Rosenow,Lap-Chee Tsui,Michael C. Iannuzzi,Michael R. Knowles,Francis S. Collins,Francis S. Collins +13 more
TL;DR: Patients with cystic fibrosis have well-defined abnormalities in epithelial tissue, including defective cyclic AMP—mediated regulation of chloride channels and an increased transepithelial potential difference, which reflects increased sodium absorption and decreased chloride permeability.
Journal ArticleDOI
Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I.
TL;DR: The frequent LOH surrounding the NFI locus and lack of neurofibromin expression in these tumors suggest that NFI gene mutations may contribute to the development of adrenal gland neoplasms in patients with NFI.