Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis
Identifieur interne : 002A55 ( Ncbi/Curation ); précédent : 002A54; suivant : 002A56Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis
Auteurs : Jessica Larusch [États-Unis] ; Jinsei Jung [Corée du Sud] ; Ignacio J. General [États-Unis] ; Michele D. Lewis [États-Unis] ; Hyun Woo Park [Corée du Sud] ; Randall E. Brand [États-Unis] ; Andres Gelrud [États-Unis] ; Michelle A. Anderson [États-Unis] ; Peter A. Banks [États-Unis] ; Darwin Conwell [États-Unis] ; Christopher Lawrence [États-Unis] ; Joseph Romagnuolo [États-Unis] ; John Baillie [États-Unis] ; Samer Alkaade [États-Unis] ; Gregory Cote [États-Unis] ; Timothy B. Gardner [États-Unis] ; Stephen T. Amann [États-Unis] ; Adam Slivka [États-Unis] ; Bimaljit Sandhu [États-Unis] ; Amy Aloe [États-Unis] ; Michelle L. Kienholz [États-Unis] ; Dhiraj Yadav [États-Unis] ; M. Michael Barmada [États-Unis] ; Ivet Bahar [États-Unis] ; Min Goo Lee [Corée du Sud] ; David C. Whitcomb [États-Unis]Source :
- PLoS Genetics [ 1553-7390 ] ; 2014.
Descripteurs français
- KwdFr :
- Cellules HEK293, Chlorures (métabolisme), Génotype, Humains, Hydrogénocarbonates (métabolisme), Mucoviscidose (anatomopathologie), Mucoviscidose (génétique), Mutation, Mâle, Pancréatite (anatomopathologie), Pancréatite (génétique), Perméabilité de la membrane cellulaire (génétique), Phénotype, Protéine CFTR (), Protéine CFTR (déficit), Protéine CFTR (génétique), Reproduction (génétique), Simulation de dynamique moléculaire, Études d'associations génétiques.
- MESH :
- anatomopathologie : Mucoviscidose, Pancréatite.
- déficit : Protéine CFTR.
- génétique : Mucoviscidose, Pancréatite, Perméabilité de la membrane cellulaire, Protéine CFTR, Reproduction.
- métabolisme : Chlorures, Hydrogénocarbonates.
- Cellules HEK293, Génotype, Humains, Mutation, Mâle, Phénotype, Protéine CFTR, Simulation de dynamique moléculaire, Études d'associations génétiques.
English descriptors
- KwdEn :
- Bicarbonates (metabolism), Cell Membrane Permeability (genetics), Chlorides (metabolism), Cystic Fibrosis (genetics), Cystic Fibrosis (pathology), Cystic Fibrosis Transmembrane Conductance Regulator (chemistry), Cystic Fibrosis Transmembrane Conductance Regulator (deficiency), Cystic Fibrosis Transmembrane Conductance Regulator (genetics), Genetic Association Studies, Genotype, HEK293 Cells, Humans, Male, Molecular Dynamics Simulation, Mutation, Pancreatitis (genetics), Pancreatitis (pathology), Phenotype, Reproduction (genetics).
- MESH :
- chemical , chemistry : Cystic Fibrosis Transmembrane Conductance Regulator.
- chemical , deficiency : Cystic Fibrosis Transmembrane Conductance Regulator.
- chemical , genetics : Cystic Fibrosis Transmembrane Conductance Regulator.
- chemical , metabolism : Bicarbonates, Chlorides.
- genetics : Cell Membrane Permeability, Cystic Fibrosis, Pancreatitis, Reproduction.
- pathology : Cystic Fibrosis, Pancreatitis.
- Genetic Association Studies, Genotype, HEK293 Cells, Humans, Male, Molecular Dynamics Simulation, Mutation, Phenotype.
Abstract
CFTR is a dynamically regulated anion channel. Intracellular WNK1-SPAK activation causes CFTR to change permeability and conductance characteristics from a chloride-preferring to bicarbonate-preferring channel through unknown mechanisms. Two severe CFTR mutations (
Url:
DOI: 10.1371/journal.pgen.1004376
PubMed: 25033378
PubMed Central: 4102440
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PMC:4102440Le document en format XML
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Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mechanisms of <italic>CFTR</italic>
Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis</title>
<author><name sortKey="Larusch, Jessica" sort="Larusch, Jessica" uniqKey="Larusch J" first="Jessica" last="Larusch">Jessica Larusch</name>
<affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Jung, Jinsei" sort="Jung, Jinsei" uniqKey="Jung J" first="Jinsei" last="Jung">Jinsei Jung</name>
<affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Department of Pharmacology and Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea</addr-line>
</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Pharmacology and Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
<region type="capital">Région capitale de Séoul</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="General, Ignacio J" sort="General, Ignacio J" uniqKey="General I" first="Ignacio J." last="General">Ignacio J. General</name>
<affiliation wicri:level="4"><nlm:aff id="aff3"><addr-line>Department of Computational & Systems Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Computational & Systems Biology, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Lewis, Michele D" sort="Lewis, Michele D" uniqKey="Lewis M" first="Michele D." last="Lewis">Michele D. Lewis</name>
<affiliation wicri:level="2"><nlm:aff id="aff4"><addr-line>Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, Florida, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Park, Hyun Woo" sort="Park, Hyun Woo" uniqKey="Park H" first="Hyun Woo" last="Park">Hyun Woo Park</name>
<affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Department of Pharmacology and Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea</addr-line>
</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Pharmacology and Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
<region type="capital">Région capitale de Séoul</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brand, Randall E" sort="Brand, Randall E" uniqKey="Brand R" first="Randall E." last="Brand">Randall E. Brand</name>
<affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Gelrud, Andres" sort="Gelrud, Andres" uniqKey="Gelrud A" first="Andres" last="Gelrud">Andres Gelrud</name>
<affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Anderson, Michelle A" sort="Anderson, Michelle A" uniqKey="Anderson M" first="Michelle A." last="Anderson">Michelle A. Anderson</name>
<affiliation wicri:level="2"><nlm:aff id="aff5"><addr-line>Department of Medicine, University of Michigan, Ann Arbor, Michigan, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Banks, Peter A" sort="Banks, Peter A" uniqKey="Banks P" first="Peter A." last="Banks">Peter A. Banks</name>
<affiliation wicri:level="2"><nlm:aff id="aff6"><addr-line>Division of Gastroenterology, Brigham and Women's Hospital, Boston, Massachusetts, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Gastroenterology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Conwell, Darwin" sort="Conwell, Darwin" uniqKey="Conwell D" first="Darwin" last="Conwell">Darwin Conwell</name>
<affiliation wicri:level="2"><nlm:aff id="aff6"><addr-line>Division of Gastroenterology, Brigham and Women's Hospital, Boston, Massachusetts, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Gastroenterology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lawrence, Christopher" sort="Lawrence, Christopher" uniqKey="Lawrence C" first="Christopher" last="Lawrence">Christopher Lawrence</name>
<affiliation wicri:level="2"><nlm:aff id="aff7"><addr-line>Digestive Disease Center, Medical University of South Carolina, Charleston, South Carolina, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Digestive Disease Center, Medical University of South Carolina, Charleston, South Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Romagnuolo, Joseph" sort="Romagnuolo, Joseph" uniqKey="Romagnuolo J" first="Joseph" last="Romagnuolo">Joseph Romagnuolo</name>
<affiliation wicri:level="2"><nlm:aff id="aff7"><addr-line>Digestive Disease Center, Medical University of South Carolina, Charleston, South Carolina, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Digestive Disease Center, Medical University of South Carolina, Charleston, South Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Baillie, John" sort="Baillie, John" uniqKey="Baillie J" first="John" last="Baillie">John Baillie</name>
<affiliation wicri:level="2"><nlm:aff id="aff8"><addr-line>Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Alkaade, Samer" sort="Alkaade, Samer" uniqKey="Alkaade S" first="Samer" last="Alkaade">Samer Alkaade</name>
<affiliation wicri:level="2"><nlm:aff id="aff9"><addr-line>Department of Internal Medicine, St. Louis University School of Medicine, St Louis, Missouri, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Internal Medicine, St. Louis University School of Medicine, St Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cote, Gregory" sort="Cote, Gregory" uniqKey="Cote G" first="Gregory" last="Cote">Gregory Cote</name>
<affiliation wicri:level="2"><nlm:aff id="aff10"><addr-line>Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea>
<placeName><region type="state">Indiana</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gardner, Timothy B" sort="Gardner, Timothy B" uniqKey="Gardner T" first="Timothy B." last="Gardner">Timothy B. Gardner</name>
<affiliation wicri:level="2"><nlm:aff id="aff11"><addr-line>Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire</wicri:regionArea>
<placeName><region type="state">New Hampshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Amann, Stephen T" sort="Amann, Stephen T" uniqKey="Amann S" first="Stephen T." last="Amann">Stephen T. Amann</name>
<affiliation wicri:level="2"><nlm:aff id="aff12"><addr-line>North Mississippi Medical Center, Tupelo, Mississippi, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>North Mississippi Medical Center, Tupelo, Mississippi</wicri:regionArea>
<placeName><region type="state">État du Mississippi</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Slivka, Adam" sort="Slivka, Adam" uniqKey="Slivka A" first="Adam" last="Slivka">Adam Slivka</name>
<affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Sandhu, Bimaljit" sort="Sandhu, Bimaljit" uniqKey="Sandhu B" first="Bimaljit" last="Sandhu">Bimaljit Sandhu</name>
<affiliation wicri:level="2"><nlm:aff id="aff13"><addr-line>Division of Gastroenterology, Hepatology and Nutrition, Virginia Commonwealth University Medical Center, Richmond, Virginia, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Gastroenterology, Hepatology and Nutrition, Virginia Commonwealth University Medical Center, Richmond, Virginia</wicri:regionArea>
<placeName><region type="state">Virginie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aloe, Amy" sort="Aloe, Amy" uniqKey="Aloe A" first="Amy" last="Aloe">Amy Aloe</name>
<affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Kienholz, Michelle L" sort="Kienholz, Michelle L" uniqKey="Kienholz M" first="Michelle L." last="Kienholz">Michelle L. Kienholz</name>
<affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Yadav, Dhiraj" sort="Yadav, Dhiraj" uniqKey="Yadav D" first="Dhiraj" last="Yadav">Dhiraj Yadav</name>
<affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Barmada, M Michael" sort="Barmada, M Michael" uniqKey="Barmada M" first="M. Michael" last="Barmada">M. Michael Barmada</name>
<affiliation wicri:level="4"><nlm:aff id="aff14"><addr-line>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Bahar, Ivet" sort="Bahar, Ivet" uniqKey="Bahar I" first="Ivet" last="Bahar">Ivet Bahar</name>
<affiliation wicri:level="4"><nlm:aff id="aff3"><addr-line>Department of Computational & Systems Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Computational & Systems Biology, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Lee, Min Goo" sort="Lee, Min Goo" uniqKey="Lee M" first="Min Goo" last="Lee">Min Goo Lee</name>
<affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Department of Pharmacology and Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea</addr-line>
</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Pharmacology and Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
<region type="capital">Région capitale de Séoul</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Whitcomb, David C" sort="Whitcomb, David C" uniqKey="Whitcomb D" first="David C." last="Whitcomb">David C. Whitcomb</name>
<affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff14"><addr-line>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff15"><addr-line>Department of Cell Biology and Molecular Physiology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cell Biology and Molecular Physiology, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">PLoS Genetics</title>
<idno type="ISSN">1553-7390</idno>
<idno type="eISSN">1553-7404</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bicarbonates (metabolism)</term>
<term>Cell Membrane Permeability (genetics)</term>
<term>Chlorides (metabolism)</term>
<term>Cystic Fibrosis (genetics)</term>
<term>Cystic Fibrosis (pathology)</term>
<term>Cystic Fibrosis Transmembrane Conductance Regulator (chemistry)</term>
<term>Cystic Fibrosis Transmembrane Conductance Regulator (deficiency)</term>
<term>Cystic Fibrosis Transmembrane Conductance Regulator (genetics)</term>
<term>Genetic Association Studies</term>
<term>Genotype</term>
<term>HEK293 Cells</term>
<term>Humans</term>
<term>Male</term>
<term>Molecular Dynamics Simulation</term>
<term>Mutation</term>
<term>Pancreatitis (genetics)</term>
<term>Pancreatitis (pathology)</term>
<term>Phenotype</term>
<term>Reproduction (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Cellules HEK293</term>
<term>Chlorures (métabolisme)</term>
<term>Génotype</term>
<term>Humains</term>
<term>Hydrogénocarbonates (métabolisme)</term>
<term>Mucoviscidose (anatomopathologie)</term>
<term>Mucoviscidose (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pancréatite (anatomopathologie)</term>
<term>Pancréatite (génétique)</term>
<term>Perméabilité de la membrane cellulaire (génétique)</term>
<term>Phénotype</term>
<term>Protéine CFTR ()</term>
<term>Protéine CFTR (déficit)</term>
<term>Protéine CFTR (génétique)</term>
<term>Reproduction (génétique)</term>
<term>Simulation de dynamique moléculaire</term>
<term>Études d'associations génétiques</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Cystic Fibrosis Transmembrane Conductance Regulator</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Cystic Fibrosis Transmembrane Conductance Regulator</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cystic Fibrosis Transmembrane Conductance Regulator</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Bicarbonates</term>
<term>Chlorides</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Mucoviscidose</term>
<term>Pancréatite</term>
</keywords>
<keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Protéine CFTR</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Membrane Permeability</term>
<term>Cystic Fibrosis</term>
<term>Pancreatitis</term>
<term>Reproduction</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Mucoviscidose</term>
<term>Pancréatite</term>
<term>Perméabilité de la membrane cellulaire</term>
<term>Protéine CFTR</term>
<term>Reproduction</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Chlorures</term>
<term>Hydrogénocarbonates</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cystic Fibrosis</term>
<term>Pancreatitis</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Genetic Association Studies</term>
<term>Genotype</term>
<term>HEK293 Cells</term>
<term>Humans</term>
<term>Male</term>
<term>Molecular Dynamics Simulation</term>
<term>Mutation</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Cellules HEK293</term>
<term>Génotype</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Phénotype</term>
<term>Protéine CFTR</term>
<term>Simulation de dynamique moléculaire</term>
<term>Études d'associations génétiques</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><p>CFTR is a dynamically regulated anion channel. Intracellular WNK1-SPAK activation causes CFTR to change permeability and conductance characteristics from a chloride-preferring to bicarbonate-preferring channel through unknown mechanisms. Two severe CFTR mutations (<italic>CFTR<sup>sev</sup>
</italic>
) cause complete loss of CFTR function and result in cystic fibrosis (CF), a severe genetic disorder affecting sweat glands, nasal sinuses, lungs, pancreas, liver, intestines, and male reproductive system. We hypothesize that those <italic>CFTR</italic>
mutations that disrupt the WNK1-SPAK activation mechanisms cause a selective, bicarbonate defect in channel function (<italic>CFTR<sup>BD</sup>
</italic>
) affecting organs that utilize CFTR for bicarbonate secretion (e.g. the pancreas, nasal sinus, vas deferens) but do not cause typical CF. To understand the structural and functional requirements of the CFTR bicarbonate-preferring channel, we (a) screened 984 well-phenotyped pancreatitis cases for candidate <italic>CFTR<sup>BD</sup>
</italic>
mutations from among 81 previously described <italic>CFTR</italic>
variants; (b) conducted electrophysiology studies on clones of variants found in pancreatitis but not CF; (c) computationally constructed a new, complete structural model of CFTR for molecular dynamics simulation of wild-type and mutant variants; and (d) tested the newly defined <italic>CFTR<sup>BD</sup>
</italic>
variants for disease in non-pancreas organs utilizing CFTR for bicarbonate secretion. Nine variants (<italic>CFTR</italic>
R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002). Clones expressed in HEK 293T cells had normal chloride but not bicarbonate permeability and conductance with WNK1-SPAK activation. Molecular dynamics simulations suggest physical restriction of the CFTR channel and altered dynamic channel regulation. Comparing pancreatitis patients and controls, <italic>CFTR<sup>BD</sup>
</italic>
increased risk for rhinosinusitis (OR 2.3, p<0.005) and male infertility (OR 395, p<<0.0001). WNK1-SPAK pathway-activated increases in CFTR bicarbonate permeability are altered by <italic>CFTR<sup>BD</sup>
</italic>
variants through multiple mechanisms. <italic>CFTR<sup>BD</sup>
</italic>
variants are associated with clinically significant disorders of the pancreas, sinuses, and male reproductive system.</p>
</div>
</front>
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