Jonathan
A. Cohn, M.D.
Professor,
Division of Gastroentrology,
Department of Medicine
Associate Professor,
Department of Cell Biology
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This
laboratory is studying the cell biology, genetics and
pathobiology of CFTR, the protein produced by the cystic
fibrosis gene. Ongoing projects focus on four themes:
(1) the cellular and subcellular localization of CFTR
in different tissues, (2) the mechanism by which protein
kinases
regulate the ATPase activity and ion transport function
of CFTR, (3) pharmacologic and other methods to augment
or reduce CFTR function in tissues, and (4) the role of
CFTR mutations, splicing variants and polymorphisms in
diseases other than cystic fibrosis (e.g., idiopathic
pancreatitis).
Selected
publications
J.A. Cohn, K.J. Friedman, P.G. Noone, M.R. Knowles, L.M.
Silverman and P.S. Jowell. Relation between mutations
in the cystic fibrosis gene and idiopathic pancreatitis.
N. Engl. J. Med. 339: 653-658, 1998.
L.D. Howell, R.A. Borchardt and J.A. Cohn. ATP hydrolysis
by a CFTR domain: Pharmacology and effects of the G551D
mutation. Biochem. Biophys. Res. Commun. 271: 518-525,
2000.
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