Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis

PLoS Genetics

Volumn 10, Issue 7, 2014, Pages

  LaRusch, Jessica ^a   Jung, Jinsei ^b   General, Ignacio J ^a   Lewis, Michele D ^c   Park, Hyun Woo ^b,n   Brand, Randall E ^a   Gelrud, Andres ^a,o   Anderson, Michelle A ^d   Banks, Peter A ^e   Conwell, Darwin ^e,p   Lawrence, Christopher ^f   Romagnuolo, Joseph ^f   Baillie, John ^g,q   Alkaade, Samer ^h   Cote, Gregory ⁱ   Gardner, Timothy B ^j   Amann, Stephen T ^k   Slivka, Adam ^a   Sandhu, Bimaljit ^l,r   Aloe, Amy ^a   Kienholz, Michelle L ^a   Yadav, Dhiraj ^a   Barmada, M Michael ^m   Bahar, Ivet ^a   Lee, Min Goo ^b   Whitcomb, David C ^a,m   more..

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b Yonsei University College of Medicine   (South Korea)

^c MAYO CLINIC   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^g DUKE UNIVERSITY MEDICAL CENTER   (United States)

^h SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^k NORTH MISSISSIPPI MEDICAL CENTER   (United States)

^l VIRGINIA COMMONWEALTH UNIVERSITY MEDICAL CENTER   (United States)

^m UNIVERSITY OF PITTSBURGH   (United States)

ⁿ UNIVERSITY OF CALIFORNIA   (United States)

^o UNIVERSITY OF CHICAGO   (United States)

^p OHIO STATE UNIVERSITY   (United States)

^q Carteret Medical Group   (United States)

^r St Mary's Hospital Richmond   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; BICARBONATE; CELL PROTEIN; CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GLUTAMINE; HISTIDINE; LEUCINE; PHENYLALANINE; PROTEIN KINASE WNK1; PROTEIN SPAK; SERINE; UNCLASSIFIED DRUG; CFTR PROTEIN, HUMAN;

ARTICLE; CASE CONTROL STUDY; CELL MEMBRANE CONDUCTANCE; CELL MEMBRANE PERMEABILITY; CFTR GENE; CHANNELOPATHY; COHORT ANALYSIS; CONTROLLED STUDY; CYSTIC FIBROSIS; ELECTROPHYSIOLOGY; ENZYME ACTIVATION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEK293 CELL LINE; HIGH RISK POPULATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MOLECULAR CLONING; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; PANCREATITIS; PARANASAL SINUS DISEASE; PHENOTYPE; PHYSICAL CHEMISTRY; PROTEIN FUNCTION; PROTEIN STRUCTURE; RHINOSINUSITIS; RISK ASSESSMENT; WILD TYPE; CHEMISTRY; DEFICIENCY; GENETICS; GENOTYPE; METABOLISM; MUTATION; PATHOLOGY; REPRODUCTION;

BICARBONATES; CELL MEMBRANE PERMEABILITY; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEK293 CELLS; HUMANS; MALE; MOLECULAR DYNAMICS SIMULATION; MUTATION; PANCREATITIS; PHENOTYPE; REPRODUCTION;

EID: 84905483296     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004376     Document Type: Article

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