Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice
Identifieur interne : 000116 ( Ncbi/Merge ); précédent : 000115; suivant : 000117Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice
Auteurs : Mark Veugelers ; David Wilkes ; Kimberly Burton [États-Unis] ; Deborah A. Mcdermott ; Yan Song ; Marsha M. Goldstein [États-Unis] ; Krista La Perle [États-Unis] ; Carl J. Vaughan ; Art O'Hagan [Royaume-Uni] ; Kenneth R. Bennett [États-Unis] ; Beat J. Meyer [Suisse] ; Eric Legius [Belgique] ; Mervi Karttunen [Finlande] ; Reijo Norio [Finlande] ; Helena Kaariainen [Finlande] ; Michael Lavyne ; Jean-Philippe Neau [France] ; Gert Richter [Allemagne] ; Kaan Kirali [Turquie] ; Alan Farnsworth [Australie] ; Karen Stapleton [Australie] ; Peter Morelli [États-Unis] ; Yoshinori Takanashi [Japon] ; John-Steven Bamforth [Canada] ; Franz Eitelberger [Autriche] ; Irene Noszian [Autriche] ; Waldimiro Manfroi [Brésil] ; James Powers [États-Unis] ; Yoshihiko Mochizuki [Japon] ; Tsuneo Imai [Japon] ; Gary T. C. Ko [Hong Kong] ; Deborah A. Driscoll [États-Unis] ; Elizabeth Goldmuntz [États-Unis] ; Jay M. Edelberg ; Amanda Collins [Royaume-Uni] ; Diana Eccles [Royaume-Uni] ; Alan D. Irvine [Irlande (pays)] ; G. Stanley Mcknight [États-Unis] ; Craig T. BassonSource :
- Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 2004.
Abstract
Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by cardiac and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We previously identified
Url:
DOI: 10.1073/pnas.0405535101
PubMed: 15371594
PubMed Central: 521100
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Comparative <italic>PRKAR1A</italic>
genotype–phenotype analyses in humans with Carney complex and <italic>prkar1a</italic>
haploinsufficient mice</title>
<author><name sortKey="Veugelers, Mark" sort="Veugelers, Mark" uniqKey="Veugelers M" first="Mark" last="Veugelers">Mark Veugelers</name>
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<author><name sortKey="Wilkes, David" sort="Wilkes, David" uniqKey="Wilkes D" first="David" last="Wilkes">David Wilkes</name>
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<author><name sortKey="Mcdermott, Deborah A" sort="Mcdermott, Deborah A" uniqKey="Mcdermott D" first="Deborah A." last="Mcdermott">Deborah A. Mcdermott</name>
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<author><name sortKey="Song, Yan" sort="Song, Yan" uniqKey="Song Y" first="Yan" last="Song">Yan Song</name>
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<author><name sortKey="Goldstein, Marsha M" sort="Goldstein, Marsha M" uniqKey="Goldstein M" first="Marsha M." last="Goldstein">Marsha M. Goldstein</name>
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<author><name sortKey="La Perle, Krista" sort="La Perle, Krista" uniqKey="La Perle K" first="Krista" last="La Perle">Krista La Perle</name>
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<author><name sortKey="Vaughan, Carl J" sort="Vaughan, Carl J" uniqKey="Vaughan C" first="Carl J." last="Vaughan">Carl J. Vaughan</name>
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<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
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<author><name sortKey="O Hagan, Art" sort="O Hagan, Art" uniqKey="O Hagan A" first="Art" last="O'Hagan">Art O'Hagan</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Belfast City Hospital Trust Clinical Genetics Service, Belfast BT9 7AB, United Kingdom;</nlm:aff>
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<author><name sortKey="Bennett, Kenneth R" sort="Bennett, Kenneth R" uniqKey="Bennett K" first="Kenneth R." last="Bennett">Kenneth R. Bennett</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Division of Cardiovascular Diseases, University of Mississippi Medical School, Jackson, MS 39216;</nlm:aff>
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<wicri:cityArea>Division of Cardiovascular Diseases, University of Mississippi Medical School, Jackson</wicri:cityArea>
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<author><name sortKey="Meyer, Beat J" sort="Meyer, Beat J" uniqKey="Meyer B" first="Beat J." last="Meyer">Beat J. Meyer</name>
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<author><name sortKey="Legius, Eric" sort="Legius, Eric" uniqKey="Legius E" first="Eric" last="Legius">Eric Legius</name>
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<author><name sortKey="Karttunen, Mervi" sort="Karttunen, Mervi" uniqKey="Karttunen M" first="Mervi" last="Karttunen">Mervi Karttunen</name>
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<author><name sortKey="Norio, Reijo" sort="Norio, Reijo" uniqKey="Norio R" first="Reijo" last="Norio">Reijo Norio</name>
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<author><name sortKey="Kaariainen, Helena" sort="Kaariainen, Helena" uniqKey="Kaariainen H" first="Helena" last="Kaariainen">Helena Kaariainen</name>
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<author><name sortKey="Lavyne, Michael" sort="Lavyne, Michael" uniqKey="Lavyne M" first="Michael" last="Lavyne">Michael Lavyne</name>
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<author><name sortKey="Neau, Jean Philippe" sort="Neau, Jean Philippe" uniqKey="Neau J" first="Jean-Philippe" last="Neau">Jean-Philippe Neau</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Neurology, Jean Bernard Hospital, Poitiers 26000, France;</nlm:aff>
<country xml:lang="fr">France</country>
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<author><name sortKey="Richter, Gert" sort="Richter, Gert" uniqKey="Richter G" first="Gert" last="Richter">Gert Richter</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Innere Medizin/Kardiologie, 65119 Weisbaden, Germany;</nlm:aff>
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<author><name sortKey="Kirali, Kaan" sort="Kirali, Kaan" uniqKey="Kirali K" first="Kaan" last="Kirali">Kaan Kirali</name>
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<author><name sortKey="Farnsworth, Alan" sort="Farnsworth, Alan" uniqKey="Farnsworth A" first="Alan" last="Farnsworth">Alan Farnsworth</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Stapleton, Karen" sort="Stapleton, Karen" uniqKey="Stapleton K" first="Karen" last="Stapleton">Karen Stapleton</name>
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<country xml:lang="fr">Australie</country>
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</author>
<author><name sortKey="Morelli, Peter" sort="Morelli, Peter" uniqKey="Morelli P" first="Peter" last="Morelli">Peter Morelli</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University Hospital, Stonybrook</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Takanashi, Yoshinori" sort="Takanashi, Yoshinori" uniqKey="Takanashi Y" first="Yoshinori" last="Takanashi">Yoshinori Takanashi</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>First Department of Surgery, Yokohama City University School of Medicine, Yokohama 236-0004</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Bamforth, John Steven" sort="Bamforth, John Steven" uniqKey="Bamforth J" first="John-Steven" last="Bamforth">John-Steven Bamforth</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada T6G 2H7;</nlm:aff>
<country>Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of Alberta, Edmonton, AB</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Eitelberger, Franz" sort="Eitelberger, Franz" uniqKey="Eitelberger F" first="Franz" last="Eitelberger">Franz Eitelberger</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels, Austria;</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Noszian, Irene" sort="Noszian, Irene" uniqKey="Noszian I" first="Irene" last="Noszian">Irene Noszian</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels, Austria;</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels</wicri:regionArea>
<wicri:noRegion>A-4600 Wels</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Manfroi, Waldimiro" sort="Manfroi, Waldimiro" uniqKey="Manfroi W" first="Waldimiro" last="Manfroi">Waldimiro Manfroi</name>
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<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sol, 90035-003, Porto Alegre</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Powers, James" sort="Powers, James" uniqKey="Powers J" first="James" last="Powers">James Powers</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Medicine, Rochester General Hospital, Rochester, NY 14621;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Medicine, Rochester General Hospital, Rochester</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Mochizuki, Yoshihiko" sort="Mochizuki, Yoshihiko" uniqKey="Mochizuki Y" first="Yoshihiko" last="Mochizuki">Yoshihiko Mochizuki</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Cardiothoracic Surgery, Dokkyo University School of Medicine, Tochigi 321-0293, Japan;</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Cardiothoracic Surgery, Dokkyo University School of Medicine, Tochigi 321-0293</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Imai, Tsuneo" sort="Imai, Tsuneo" uniqKey="Imai T" first="Tsuneo" last="Imai">Tsuneo Imai</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Surgery II, Nagoya Graduate School of Medicine, Nagoya 466-8550, Japan;</nlm:aff>
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<author><name sortKey="Ko, Gary T C" sort="Ko, Gary T C" uniqKey="Ko G" first="Gary T. C." last="Ko">Gary T. C. Ko</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Tai Po, NT, Hong Kong;</nlm:aff>
<country xml:lang="fr">Hong Kong</country>
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</affiliation>
</author>
<author><name sortKey="Driscoll, Deborah A" sort="Driscoll, Deborah A" uniqKey="Driscoll D" first="Deborah A." last="Driscoll">Deborah A. Driscoll</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia</wicri:cityArea>
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</author>
<author><name sortKey="Goldmuntz, Elizabeth" sort="Goldmuntz, Elizabeth" uniqKey="Goldmuntz E" first="Elizabeth" last="Goldmuntz">Elizabeth Goldmuntz</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Edelberg, Jay M" sort="Edelberg, Jay M" uniqKey="Edelberg J" first="Jay M." last="Edelberg">Jay M. Edelberg</name>
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<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
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<author><name sortKey="Collins, Amanda" sort="Collins, Amanda" uniqKey="Collins A" first="Amanda" last="Collins">Amanda Collins</name>
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<author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA</wicri:regionArea>
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<author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D." last="Irvine">Alan D. Irvine</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Our Lady's Hospital for Sick Children, Dublin 12, Ireland</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
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<author><name sortKey="Mcknight, G Stanley" sort="Mcknight, G Stanley" uniqKey="Mcknight G" first="G. Stanley" last="Mcknight">G. Stanley Mcknight</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pharmacology, University of Washington, Seattle, WA 98195;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea>Department of Pharmacology, University of Washington, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Basson, Craig T" sort="Basson, Craig T" uniqKey="Basson C" first="Craig T." last="Basson">Craig T. Basson</name>
<affiliation><nlm:aff id="N0x9874170.0x9a8ea70">Greenberg Cardiology Division, Department of Medicine, and Departments of</nlm:aff>
<wicri:noCountry code="subfield">and Departments of</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
</affiliation>
</author>
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<idno type="pmid">15371594</idno>
<idno type="pmc">521100</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC521100</idno>
<idno type="RBID">PMC:521100</idno>
<idno type="doi">10.1073/pnas.0405535101</idno>
<date when="2004">2004</date>
<idno type="wicri:Area/Pmc/Corpus">001075</idno>
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</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Comparative <italic>PRKAR1A</italic>
genotype–phenotype analyses in humans with Carney complex and <italic>prkar1a</italic>
haploinsufficient mice</title>
<author><name sortKey="Veugelers, Mark" sort="Veugelers, Mark" uniqKey="Veugelers M" first="Mark" last="Veugelers">Mark Veugelers</name>
<affiliation><nlm:aff id="N0x9874170.0x9a8ea70">Greenberg Cardiology Division, Department of Medicine, and Departments of</nlm:aff>
<wicri:noCountry code="subfield">and Departments of</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wilkes, David" sort="Wilkes, David" uniqKey="Wilkes D" first="David" last="Wilkes">David Wilkes</name>
<affiliation><nlm:aff id="N0x9874170.0x9a8ea70">Greenberg Cardiology Division, Department of Medicine, and Departments of</nlm:aff>
<wicri:noCountry code="subfield">and Departments of</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Burton, Kimberly" sort="Burton, Kimberly" uniqKey="Burton K" first="Kimberly" last="Burton">Kimberly Burton</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pharmacology, University of Washington, Seattle, WA 98195;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea>Department of Pharmacology, University of Washington, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Mcdermott, Deborah A" sort="Mcdermott, Deborah A" uniqKey="Mcdermott D" first="Deborah A." last="Mcdermott">Deborah A. Mcdermott</name>
<affiliation><nlm:aff id="N0x9874170.0x9a8ea70">Greenberg Cardiology Division, Department of Medicine, and Departments of</nlm:aff>
<wicri:noCountry code="subfield">and Departments of</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Song, Yan" sort="Song, Yan" uniqKey="Song Y" first="Yan" last="Song">Yan Song</name>
<affiliation><nlm:aff id="N0x9874170.0x9a8ea70">Greenberg Cardiology Division, Department of Medicine, and Departments of</nlm:aff>
<wicri:noCountry code="subfield">and Departments of</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Goldstein, Marsha M" sort="Goldstein, Marsha M" uniqKey="Goldstein M" first="Marsha M." last="Goldstein">Marsha M. Goldstein</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">BioReference Laboratories, Elmwood Park, NJ 07407;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">New Jersey</region>
</placeName>
<wicri:cityArea>BioReference Laboratories, Elmwood Park</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="La Perle, Krista" sort="La Perle, Krista" uniqKey="La Perle K" first="Krista" last="La Perle">Krista La Perle</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Genetically Engineered Mouse Phenotyping Core, Weill Medical College of Cornell University, New York, NY 10021;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Genetically Engineered Mouse Phenotyping Core, Weill Medical College of Cornell University, New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Vaughan, Carl J" sort="Vaughan, Carl J" uniqKey="Vaughan C" first="Carl J." last="Vaughan">Carl J. Vaughan</name>
<affiliation><nlm:aff id="N0x9874170.0x9a8ea70">Greenberg Cardiology Division, Department of Medicine, and Departments of</nlm:aff>
<wicri:noCountry code="subfield">and Departments of</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
</affiliation>
</author>
<author><name sortKey="O Hagan, Art" sort="O Hagan, Art" uniqKey="O Hagan A" first="Art" last="O'Hagan">Art O'Hagan</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Belfast City Hospital Trust Clinical Genetics Service, Belfast BT9 7AB, United Kingdom;</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Belfast City Hospital Trust Clinical Genetics Service, Belfast BT9 7AB</wicri:regionArea>
<wicri:noRegion>Belfast BT9 7AB</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bennett, Kenneth R" sort="Bennett, Kenneth R" uniqKey="Bennett K" first="Kenneth R." last="Bennett">Kenneth R. Bennett</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Division of Cardiovascular Diseases, University of Mississippi Medical School, Jackson, MS 39216;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État du Mississippi</region>
</placeName>
<wicri:cityArea>Division of Cardiovascular Diseases, University of Mississippi Medical School, Jackson</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Meyer, Beat J" sort="Meyer, Beat J" uniqKey="Meyer B" first="Beat J." last="Meyer">Beat J. Meyer</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Site-Kardiologie Heart Center, Bern University, CH-3012 Bern, Switzerland;</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Site-Kardiologie Heart Center, Bern University, CH-3012 Bern</wicri:regionArea>
<wicri:noRegion>CH-3012 Bern</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Legius, Eric" sort="Legius, Eric" uniqKey="Legius E" first="Eric" last="Legius">Eric Legius</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Center of Human Genetics, University Hospital, B-3000 Leuven, Belgium;</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center of Human Genetics, University Hospital, B-3000 Leuven</wicri:regionArea>
<wicri:noRegion>B-3000 Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Karttunen, Mervi" sort="Karttunen, Mervi" uniqKey="Karttunen M" first="Mervi" last="Karttunen">Mervi Karttunen</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Ilomantsin Terveyskeskus, 82900, Ilomantsi, Finland;</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Ilomantsin Terveyskeskus, 82900, Ilomantsi</wicri:regionArea>
<wicri:noRegion>Ilomantsi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Norio, Reijo" sort="Norio, Reijo" uniqKey="Norio R" first="Reijo" last="Norio">Reijo Norio</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Medical Genetics, Family Federation of Finland, FIN-00101, Helsinki, Finland;</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Medical Genetics, Family Federation of Finland, FIN-00101, Helsinki</wicri:regionArea>
<wicri:noRegion>Helsinki</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kaariainen, Helena" sort="Kaariainen, Helena" uniqKey="Kaariainen H" first="Helena" last="Kaariainen">Helena Kaariainen</name>
<affiliation wicri:level="4"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Medical and Clinical Genetics, University of Turku, University Hospital, SF-20520, Turku, Finland;</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Medical and Clinical Genetics, University of Turku, University Hospital, SF-20520, Turku</wicri:regionArea>
<placeName><settlement type="city">Turku</settlement>
<region type="région" nuts="2">Finlande occidentale</region>
<settlement type="city">Turku</settlement>
</placeName>
<orgName type="university">Université de Turku</orgName>
</affiliation>
</author>
<author><name sortKey="Lavyne, Michael" sort="Lavyne, Michael" uniqKey="Lavyne M" first="Michael" last="Lavyne">Michael Lavyne</name>
<affiliation><nlm:aff wicri:cut=", and" id="N0x9874170.0x9a8ea70">Surgery</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Neau, Jean Philippe" sort="Neau, Jean Philippe" uniqKey="Neau J" first="Jean-Philippe" last="Neau">Jean-Philippe Neau</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Neurology, Jean Bernard Hospital, Poitiers 26000, France;</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Neurology, Jean Bernard Hospital, Poitiers 26000</wicri:regionArea>
<wicri:noRegion>26000</wicri:noRegion>
<wicri:noRegion>26000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Richter, Gert" sort="Richter, Gert" uniqKey="Richter G" first="Gert" last="Richter">Gert Richter</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Innere Medizin/Kardiologie, 65119 Weisbaden, Germany;</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Innere Medizin/Kardiologie, 65119 Weisbaden</wicri:regionArea>
<wicri:noRegion>65119 Weisbaden</wicri:noRegion>
<wicri:noRegion>65119 Weisbaden</wicri:noRegion>
<wicri:noRegion>65119 Weisbaden</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kirali, Kaan" sort="Kirali, Kaan" uniqKey="Kirali K" first="Kaan" last="Kirali">Kaan Kirali</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Cardiovascular Surgery, Kosuyolo Heart Hospital, 81020, Istanbul, Turkey;</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Cardiovascular Surgery, Kosuyolo Heart Hospital, 81020, Istanbul</wicri:regionArea>
<wicri:noRegion>Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farnsworth, Alan" sort="Farnsworth, Alan" uniqKey="Farnsworth A" first="Alan" last="Farnsworth">Alan Farnsworth</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Cardiothoracic Surgery, Sydney Adventist Hospital, Wahroona NSW 2076, Australia;</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Cardiothoracic Surgery, Sydney Adventist Hospital, Wahroona NSW 2076</wicri:regionArea>
<wicri:noRegion>Wahroona NSW 2076</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stapleton, Karen" sort="Stapleton, Karen" uniqKey="Stapleton K" first="Karen" last="Stapleton">Karen Stapleton</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Cardiothoracic Surgery, Sydney Adventist Hospital, Wahroona NSW 2076, Australia;</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Cardiothoracic Surgery, Sydney Adventist Hospital, Wahroona NSW 2076</wicri:regionArea>
<wicri:noRegion>Wahroona NSW 2076</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Morelli, Peter" sort="Morelli, Peter" uniqKey="Morelli P" first="Peter" last="Morelli">Peter Morelli</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, University Hospital, Stonybrook, NY 11794;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University Hospital, Stonybrook</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Takanashi, Yoshinori" sort="Takanashi, Yoshinori" uniqKey="Takanashi Y" first="Yoshinori" last="Takanashi">Yoshinori Takanashi</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">First Department of Surgery, Yokohama City University School of Medicine, Yokohama 236-0004, Japan;</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>First Department of Surgery, Yokohama City University School of Medicine, Yokohama 236-0004</wicri:regionArea>
<wicri:noRegion>Yokohama 236-0004</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bamforth, John Steven" sort="Bamforth, John Steven" uniqKey="Bamforth J" first="John-Steven" last="Bamforth">John-Steven Bamforth</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada T6G 2H7;</nlm:aff>
<country>Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of Alberta, Edmonton, AB</wicri:regionArea>
<wicri:noRegion>AB</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Eitelberger, Franz" sort="Eitelberger, Franz" uniqKey="Eitelberger F" first="Franz" last="Eitelberger">Franz Eitelberger</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels, Austria;</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels</wicri:regionArea>
<wicri:noRegion>A-4600 Wels</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Noszian, Irene" sort="Noszian, Irene" uniqKey="Noszian I" first="Irene" last="Noszian">Irene Noszian</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels, Austria;</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels</wicri:regionArea>
<wicri:noRegion>A-4600 Wels</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Manfroi, Waldimiro" sort="Manfroi, Waldimiro" uniqKey="Manfroi W" first="Waldimiro" last="Manfroi">Waldimiro Manfroi</name>
<affiliation wicri:level="3"><nlm:aff id="N0x9874170.0x9a8ea70">Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sol, 90035-003, Porto Alegre, Brazil;</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sol, 90035-003, Porto Alegre</wicri:regionArea>
<placeName><settlement type="city">Porto Alegre</settlement>
<region type="state">Rio Grande do Sul</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Powers, James" sort="Powers, James" uniqKey="Powers J" first="James" last="Powers">James Powers</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Medicine, Rochester General Hospital, Rochester, NY 14621;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Medicine, Rochester General Hospital, Rochester</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Mochizuki, Yoshihiko" sort="Mochizuki, Yoshihiko" uniqKey="Mochizuki Y" first="Yoshihiko" last="Mochizuki">Yoshihiko Mochizuki</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Cardiothoracic Surgery, Dokkyo University School of Medicine, Tochigi 321-0293, Japan;</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Cardiothoracic Surgery, Dokkyo University School of Medicine, Tochigi 321-0293</wicri:regionArea>
<wicri:noRegion>Tochigi 321-0293</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Imai, Tsuneo" sort="Imai, Tsuneo" uniqKey="Imai T" first="Tsuneo" last="Imai">Tsuneo Imai</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Surgery II, Nagoya Graduate School of Medicine, Nagoya 466-8550, Japan;</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Surgery II, Nagoya Graduate School of Medicine, Nagoya 466-8550</wicri:regionArea>
<wicri:noRegion>Nagoya 466-8550</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ko, Gary T C" sort="Ko, Gary T C" uniqKey="Ko G" first="Gary T. C." last="Ko">Gary T. C. Ko</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Tai Po, NT, Hong Kong;</nlm:aff>
<country xml:lang="fr">Hong Kong</country>
<wicri:regionArea>Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Tai Po, NT</wicri:regionArea>
<wicri:noRegion>NT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Driscoll, Deborah A" sort="Driscoll, Deborah A" uniqKey="Driscoll D" first="Deborah A." last="Driscoll">Deborah A. Driscoll</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Goldmuntz, Elizabeth" sort="Goldmuntz, Elizabeth" uniqKey="Goldmuntz E" first="Elizabeth" last="Goldmuntz">Elizabeth Goldmuntz</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Edelberg, Jay M" sort="Edelberg, Jay M" uniqKey="Edelberg J" first="Jay M." last="Edelberg">Jay M. Edelberg</name>
<affiliation><nlm:aff id="N0x9874170.0x9a8ea70">Greenberg Cardiology Division, Department of Medicine, and Departments of</nlm:aff>
<wicri:noCountry code="subfield">and Departments of</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Collins, Amanda" sort="Collins, Amanda" uniqKey="Collins A" first="Amanda" last="Collins">Amanda Collins</name>
<affiliation wicri:level="1"><nlm:aff wicri:cut="; and" id="N0x9874170.0x9a8ea70">Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA</wicri:regionArea>
<wicri:noRegion>Southampton SO16 5YA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name>
<affiliation wicri:level="1"><nlm:aff wicri:cut="; and" id="N0x9874170.0x9a8ea70">Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA</wicri:regionArea>
<wicri:noRegion>Southampton SO16 5YA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D." last="Irvine">Alan D. Irvine</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9874170.0x9a8ea70">Our Lady's Hospital for Sick Children, Dublin 12, Ireland</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Our Lady's Hospital for Sick Children, Dublin 12</wicri:regionArea>
<wicri:noRegion>Dublin 12</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcknight, G Stanley" sort="Mcknight, G Stanley" uniqKey="Mcknight G" first="G. Stanley" last="Mcknight">G. Stanley Mcknight</name>
<affiliation wicri:level="2"><nlm:aff id="N0x9874170.0x9a8ea70">Department of Pharmacology, University of Washington, Seattle, WA 98195;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea>Department of Pharmacology, University of Washington, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Basson, Craig T" sort="Basson, Craig T" uniqKey="Basson C" first="Craig T." last="Basson">Craig T. Basson</name>
<affiliation><nlm:aff id="N0x9874170.0x9a8ea70">Greenberg Cardiology Division, Department of Medicine, and Departments of</nlm:aff>
<wicri:noCountry code="subfield">and Departments of</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="N0x9874170.0x9a8ea70">Cell and Developmental Biology</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Proceedings of the National Academy of Sciences of the United States of America</title>
<idno type="ISSN">0027-8424</idno>
<idno type="eISSN">1091-6490</idno>
<imprint><date when="2004">2004</date>
</imprint>
</series>
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<front><div type="abstract" xml:lang="en"><p>Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by cardiac and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We previously identified <italic>PRKAR1A</italic>
(regulatory subunit 1α of protein kinase A) mutations in CNC. Mutational analyses of the <italic>PRKAR1A</italic>
gene in 51 unrelated CNC probands now detect mutations in 65%. All mutations, except for one unique missense mutation, lead to <italic>PRKAR1A</italic>
haploinsufficiency. Therefore, we studied the consequences of <italic>prkar1a</italic>
haploinsufficiency in mice. Although we did not observe cardiac myxomas or altered pigmentation in <italic>prkar1a</italic>
<sup>+/–</sup>
mice, we did observe some phenotypes similar to CNC, including altered heart rate variability. Moreover, <italic>prkar1a</italic>
<sup>+/–</sup>
mice exhibited a marked propensity for extracardiac tumorigenesis. They developed sarcomas and hepatocellular carcinomas. Sarcomas were frequently associated with myxomatous differentiation. Tumors from <italic>prkar1a</italic>
<sup>+/–</sup>
mice did not exhibit <italic>prkar1a</italic>
loss of heterozygosity. Thus, we conclude that although PRKAR1A haploinsufficiency does predispose to tumorigenesis, distinct secondary genetic events are required for tumor formation.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Proc Natl Acad Sci U S A</journal-id>
<journal-id journal-id-type="publisher-id">pnas</journal-id>
<journal-title>Proceedings of the National Academy of Sciences of the United States of America</journal-title>
<issn pub-type="ppub">0027-8424</issn>
<issn pub-type="epub">1091-6490</issn>
<publisher><publisher-name>National Academy of Sciences</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">15371594</article-id>
<article-id pub-id-type="pmc">521100</article-id>
<article-id pub-id-type="publisher-id">10114222</article-id>
<article-id pub-id-type="doi">10.1073/pnas.0405535101</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Biological Sciences</subject>
<subj-group><subject>Medical Sciences</subject>
</subj-group>
</subj-group>
</article-categories>
<title-group><article-title>Comparative <italic>PRKAR1A</italic>
genotype–phenotype analyses in humans with Carney complex and <italic>prkar1a</italic>
haploinsufficient mice</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Veugelers</surname>
<given-names>Mark</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">a</xref>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">b</xref>
<xref ref-type="fn" rid="fn1">c</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wilkes</surname>
<given-names>David</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">a</xref>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">b</xref>
<xref ref-type="fn" rid="fn1">c</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Burton</surname>
<given-names>Kimberly</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">d</xref>
</contrib>
<contrib contrib-type="author"><name><surname>McDermott</surname>
<given-names>Deborah A.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">a</xref>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">b</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Song</surname>
<given-names>Yan</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">a</xref>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">b</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Goldstein</surname>
<given-names>Marsha M.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">e</xref>
</contrib>
<contrib contrib-type="author"><name><surname>La Perle</surname>
<given-names>Krista</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">f</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vaughan</surname>
<given-names>Carl J.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">a</xref>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">b</xref>
</contrib>
<contrib contrib-type="author"><name><surname>O'Hagan</surname>
<given-names>Art</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">g</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bennett</surname>
<given-names>Kenneth R.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">h</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meyer</surname>
<given-names>Beat J.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">i</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Legius</surname>
<given-names>Eric</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">j</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Karttunen</surname>
<given-names>Mervi</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">k</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Norio</surname>
<given-names>Reijo</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">l</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kaariainen</surname>
<given-names>Helena</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">m</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lavyne</surname>
<given-names>Michael</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">n</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Neau</surname>
<given-names>Jean-Philippe</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">o</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Richter</surname>
<given-names>Gert</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">p</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kirali</surname>
<given-names>Kaan</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">q</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Farnsworth</surname>
<given-names>Alan</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">r</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stapleton</surname>
<given-names>Karen</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">r</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Morelli</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">s</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Takanashi</surname>
<given-names>Yoshinori</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">t</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bamforth</surname>
<given-names>John-Steven</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">u</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Eitelberger</surname>
<given-names>Franz</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">v</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Noszian</surname>
<given-names>Irene</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">v</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Manfroi</surname>
<given-names>Waldimiro</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">w</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Powers</surname>
<given-names>James</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">x</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mochizuki</surname>
<given-names>Yoshihiko</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">y</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Imai</surname>
<given-names>Tsuneo</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">z</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ko</surname>
<given-names>Gary T. C.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">aa</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Driscoll</surname>
<given-names>Deborah A.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">bb</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Goldmuntz</surname>
<given-names>Elizabeth</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">bb</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Edelberg</surname>
<given-names>Jay M.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">a</xref>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">b</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Collins</surname>
<given-names>Amanda</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">cc</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Eccles</surname>
<given-names>Diana</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">cc</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Irvine</surname>
<given-names>Alan D.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">dd</xref>
</contrib>
<contrib contrib-type="author"><name><surname>McKnight</surname>
<given-names>G. Stanley</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">d</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Basson</surname>
<given-names>Craig T.</given-names>
</name>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">a</xref>
<xref ref-type="aff" rid="N0x9874170.0x9a8ea70">b</xref>
<xref ref-type="fn" rid="fn1">c</xref>
<xref ref-type="corresp" rid="cor1">ee</xref>
</contrib>
</contrib-group>
<aff id="N0x9874170.0x9a8ea70"><label>a</label>
Greenberg Cardiology Division, Department of Medicine, and Departments of<label>b</label>
Cell and Developmental Biology and<label>n</label>
Surgery, and<label>f</label>
Genetically Engineered Mouse Phenotyping Core, Weill Medical College of Cornell University, New York, NY 10021;<label>d</label>
Department of Pharmacology, University of Washington, Seattle, WA 98195;<label>e</label>
BioReference Laboratories, Elmwood Park, NJ 07407;<label>g</label>
Belfast City Hospital Trust Clinical Genetics Service, Belfast BT9 7AB, United Kingdom;<label>h</label>
Division of Cardiovascular Diseases, University of Mississippi Medical School, Jackson, MS 39216;<label>i</label>
Site-Kardiologie Heart Center, Bern University, CH-3012 Bern, Switzerland;<label>j</label>
Center of Human Genetics, University Hospital, B-3000 Leuven, Belgium;<label>k</label>
Ilomantsin Terveyskeskus, 82900, Ilomantsi, Finland;<label>l</label>
Department of Medical Genetics, Family Federation of Finland, FIN-00101, Helsinki, Finland;<label>m</label>
Department of Medical and Clinical Genetics, University of Turku, University Hospital, SF-20520, Turku, Finland;<label>o</label>
Department of Neurology, Jean Bernard Hospital, Poitiers 26000, France;<label>p</label>
Innere Medizin/Kardiologie, 65119 Weisbaden, Germany;<label>q</label>
Department of Cardiovascular Surgery, Kosuyolo Heart Hospital, 81020, Istanbul, Turkey;<label>r</label>
Department of Cardiothoracic Surgery, Sydney Adventist Hospital, Wahroona NSW 2076, Australia;<label>s</label>
Department of Pediatrics, University Hospital, Stonybrook, NY 11794;<label>t</label>
First Department of Surgery, Yokohama City University School of Medicine, Yokohama 236-0004, Japan;<label>u</label>
Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada T6G 2H7;<label>v</label>
Department of Pediatrics, Hospital of the Sisters of Mercy, A-4600 Wels, Austria;<label>w</label>
Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sol, 90035-003, Porto Alegre, Brazil;<label>x</label>
Department of Medicine, Rochester General Hospital, Rochester, NY 14621;<label>y</label>
Department of Cardiothoracic Surgery, Dokkyo University School of Medicine, Tochigi 321-0293, Japan;<label>z</label>
Surgery II, Nagoya Graduate School of Medicine, Nagoya 466-8550, Japan;<label>aa</label>
Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Tai Po, NT, Hong Kong;<label>bb</label>
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104;<label>cc</label>
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, United Kingdom; and<label>dd</label>
Our Lady's Hospital for Sick Children, Dublin 12, Ireland</aff>
<author-notes><fn id="cor1"><label>ee</label>
<p> To whom correspondence should be addressed. E-mail: <email>ctbasson@med.cornell.edu</email>
. </p>
</fn>
<fn id="fn1"><label>c</label>
<p>M.V. and D.W. contributed equally to this work.</p>
</fn>
<fn><p>Communicated by Susan S. Taylor, University of California at San Diego, La Jolla, CA, July 29, 2004</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><day>28</day>
<month>9</month>
<year>2004</year>
</pub-date>
<pub-date pub-type="epub"><day>15</day>
<month>9</month>
<year>2004</year>
</pub-date>
<volume>101</volume>
<issue>39</issue>
<fpage>14222</fpage>
<lpage>14227</lpage>
<history><date date-type="received"><day>11</day>
<month>2</month>
<year>2004</year>
</date>
</history>
<copyright-statement>Copyright © 2004, The National Academy of Sciences</copyright-statement>
<copyright-year>2004</copyright-year>
<license><p>Freely available online through the PNAS open access option.</p>
</license>
<abstract><p>Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by cardiac and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We previously identified <italic>PRKAR1A</italic>
(regulatory subunit 1α of protein kinase A) mutations in CNC. Mutational analyses of the <italic>PRKAR1A</italic>
gene in 51 unrelated CNC probands now detect mutations in 65%. All mutations, except for one unique missense mutation, lead to <italic>PRKAR1A</italic>
haploinsufficiency. Therefore, we studied the consequences of <italic>prkar1a</italic>
haploinsufficiency in mice. Although we did not observe cardiac myxomas or altered pigmentation in <italic>prkar1a</italic>
<sup>+/–</sup>
mice, we did observe some phenotypes similar to CNC, including altered heart rate variability. Moreover, <italic>prkar1a</italic>
<sup>+/–</sup>
mice exhibited a marked propensity for extracardiac tumorigenesis. They developed sarcomas and hepatocellular carcinomas. Sarcomas were frequently associated with myxomatous differentiation. Tumors from <italic>prkar1a</italic>
<sup>+/–</sup>
mice did not exhibit <italic>prkar1a</italic>
loss of heterozygosity. Thus, we conclude that although PRKAR1A haploinsufficiency does predispose to tumorigenesis, distinct secondary genetic events are required for tumor formation.</p>
</abstract>
</article-meta>
<notes><fn-group><fn><p>Abbreviations: CNC, Carney complex; NMD, nonsense-mediated decay; HRV, heart rate variability; PSC, premature stop codon; PKA, protein kinase A; LOH, loss of heterozygosity.</p>
</fn>
</fn-group>
</notes>
</front>
</pmc>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Autriche</li>
<li>Belgique</li>
<li>Brésil</li>
<li>Canada</li>
<li>Finlande</li>
<li>France</li>
<li>Hong Kong</li>
<li>Irlande (pays)</li>
<li>Japon</li>
<li>Royaume-Uni</li>
<li>Suisse</li>
<li>Turquie</li>
<li>États-Unis</li>
</country>
<region><li>Finlande occidentale</li>
<li>New Jersey</li>
<li>Pennsylvanie</li>
<li>Rio Grande do Sul</li>
<li>Washington (État)</li>
<li>État de New York</li>
<li>État du Mississippi</li>
</region>
<settlement><li>Porto Alegre</li>
<li>Turku</li>
</settlement>
<orgName><li>Université de Turku</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Basson, Craig T" sort="Basson, Craig T" uniqKey="Basson C" first="Craig T." last="Basson">Craig T. Basson</name>
<name sortKey="Edelberg, Jay M" sort="Edelberg, Jay M" uniqKey="Edelberg J" first="Jay M." last="Edelberg">Jay M. Edelberg</name>
<name sortKey="Lavyne, Michael" sort="Lavyne, Michael" uniqKey="Lavyne M" first="Michael" last="Lavyne">Michael Lavyne</name>
<name sortKey="Mcdermott, Deborah A" sort="Mcdermott, Deborah A" uniqKey="Mcdermott D" first="Deborah A." last="Mcdermott">Deborah A. Mcdermott</name>
<name sortKey="Song, Yan" sort="Song, Yan" uniqKey="Song Y" first="Yan" last="Song">Yan Song</name>
<name sortKey="Vaughan, Carl J" sort="Vaughan, Carl J" uniqKey="Vaughan C" first="Carl J." last="Vaughan">Carl J. Vaughan</name>
<name sortKey="Veugelers, Mark" sort="Veugelers, Mark" uniqKey="Veugelers M" first="Mark" last="Veugelers">Mark Veugelers</name>
<name sortKey="Wilkes, David" sort="Wilkes, David" uniqKey="Wilkes D" first="David" last="Wilkes">David Wilkes</name>
</noCountry>
<country name="États-Unis"><region name="Washington (État)"><name sortKey="Burton, Kimberly" sort="Burton, Kimberly" uniqKey="Burton K" first="Kimberly" last="Burton">Kimberly Burton</name>
</region>
<name sortKey="Bennett, Kenneth R" sort="Bennett, Kenneth R" uniqKey="Bennett K" first="Kenneth R." last="Bennett">Kenneth R. Bennett</name>
<name sortKey="Driscoll, Deborah A" sort="Driscoll, Deborah A" uniqKey="Driscoll D" first="Deborah A." last="Driscoll">Deborah A. Driscoll</name>
<name sortKey="Goldmuntz, Elizabeth" sort="Goldmuntz, Elizabeth" uniqKey="Goldmuntz E" first="Elizabeth" last="Goldmuntz">Elizabeth Goldmuntz</name>
<name sortKey="Goldstein, Marsha M" sort="Goldstein, Marsha M" uniqKey="Goldstein M" first="Marsha M." last="Goldstein">Marsha M. Goldstein</name>
<name sortKey="La Perle, Krista" sort="La Perle, Krista" uniqKey="La Perle K" first="Krista" last="La Perle">Krista La Perle</name>
<name sortKey="Mcknight, G Stanley" sort="Mcknight, G Stanley" uniqKey="Mcknight G" first="G. Stanley" last="Mcknight">G. Stanley Mcknight</name>
<name sortKey="Morelli, Peter" sort="Morelli, Peter" uniqKey="Morelli P" first="Peter" last="Morelli">Peter Morelli</name>
<name sortKey="Powers, James" sort="Powers, James" uniqKey="Powers J" first="James" last="Powers">James Powers</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="O Hagan, Art" sort="O Hagan, Art" uniqKey="O Hagan A" first="Art" last="O'Hagan">Art O'Hagan</name>
</noRegion>
<name sortKey="Collins, Amanda" sort="Collins, Amanda" uniqKey="Collins A" first="Amanda" last="Collins">Amanda Collins</name>
<name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name>
</country>
<country name="Suisse"><noRegion><name sortKey="Meyer, Beat J" sort="Meyer, Beat J" uniqKey="Meyer B" first="Beat J." last="Meyer">Beat J. Meyer</name>
</noRegion>
</country>
<country name="Belgique"><noRegion><name sortKey="Legius, Eric" sort="Legius, Eric" uniqKey="Legius E" first="Eric" last="Legius">Eric Legius</name>
</noRegion>
</country>
<country name="Finlande"><noRegion><name sortKey="Karttunen, Mervi" sort="Karttunen, Mervi" uniqKey="Karttunen M" first="Mervi" last="Karttunen">Mervi Karttunen</name>
</noRegion>
<name sortKey="Kaariainen, Helena" sort="Kaariainen, Helena" uniqKey="Kaariainen H" first="Helena" last="Kaariainen">Helena Kaariainen</name>
<name sortKey="Norio, Reijo" sort="Norio, Reijo" uniqKey="Norio R" first="Reijo" last="Norio">Reijo Norio</name>
</country>
<country name="France"><noRegion><name sortKey="Neau, Jean Philippe" sort="Neau, Jean Philippe" uniqKey="Neau J" first="Jean-Philippe" last="Neau">Jean-Philippe Neau</name>
</noRegion>
</country>
<country name="Allemagne"><noRegion><name sortKey="Richter, Gert" sort="Richter, Gert" uniqKey="Richter G" first="Gert" last="Richter">Gert Richter</name>
</noRegion>
</country>
<country name="Turquie"><noRegion><name sortKey="Kirali, Kaan" sort="Kirali, Kaan" uniqKey="Kirali K" first="Kaan" last="Kirali">Kaan Kirali</name>
</noRegion>
</country>
<country name="Australie"><noRegion><name sortKey="Farnsworth, Alan" sort="Farnsworth, Alan" uniqKey="Farnsworth A" first="Alan" last="Farnsworth">Alan Farnsworth</name>
</noRegion>
<name sortKey="Stapleton, Karen" sort="Stapleton, Karen" uniqKey="Stapleton K" first="Karen" last="Stapleton">Karen Stapleton</name>
</country>
<country name="Japon"><noRegion><name sortKey="Takanashi, Yoshinori" sort="Takanashi, Yoshinori" uniqKey="Takanashi Y" first="Yoshinori" last="Takanashi">Yoshinori Takanashi</name>
</noRegion>
<name sortKey="Imai, Tsuneo" sort="Imai, Tsuneo" uniqKey="Imai T" first="Tsuneo" last="Imai">Tsuneo Imai</name>
<name sortKey="Mochizuki, Yoshihiko" sort="Mochizuki, Yoshihiko" uniqKey="Mochizuki Y" first="Yoshihiko" last="Mochizuki">Yoshihiko Mochizuki</name>
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<country name="Brésil"><region name="Rio Grande do Sul"><name sortKey="Manfroi, Waldimiro" sort="Manfroi, Waldimiro" uniqKey="Manfroi W" first="Waldimiro" last="Manfroi">Waldimiro Manfroi</name>
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<country name="Irlande (pays)"><noRegion><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D." last="Irvine">Alan D. Irvine</name>
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