Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice
Identifieur interne : 00A830 ( Main/Exploration ); précédent : 00A829; suivant : 00A831Comparative 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
Affiliations:
- Allemagne, Australie, Autriche, Belgique, Brésil, Canada, Finlande, France, Hong Kong, Irlande (pays), Japon, Royaume-Uni, Suisse, Turquie, États-Unis
- Finlande occidentale, New Jersey, Pennsylvanie, Rio Grande do Sul, Washington (État), État de New York, État du Mississippi
- Porto Alegre, Turku
- Université de Turku
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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><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. 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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></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><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><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001075</idno><idno type="wicri:Area/Pmc/Curation">000F36</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000F36</idno><idno type="wicri:Area/Pmc/Checkpoint">002C92</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002C92</idno><idno type="wicri:Area/Ncbi/Merge">000116</idno><idno type="wicri:Area/Ncbi/Curation">000116</idno><idno type="wicri:Area/Ncbi/Checkpoint">000116</idno><idno type="wicri:Area/Main/Merge">00B486</idno><idno type="wicri:Area/Main/Curation">00A830</idno><idno type="wicri:Area/Main/Exploration">00A830</idno></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></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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><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></country><country name="Canada"><noRegion><name sortKey="Bamforth, John Steven" sort="Bamforth, John Steven" uniqKey="Bamforth J" first="John-Steven" last="Bamforth">John-Steven Bamforth</name></noRegion></country><country name="Autriche"><noRegion><name sortKey="Eitelberger, Franz" sort="Eitelberger, Franz" uniqKey="Eitelberger F" first="Franz" last="Eitelberger">Franz Eitelberger</name></noRegion><name sortKey="Noszian, Irene" sort="Noszian, Irene" uniqKey="Noszian I" first="Irene" last="Noszian">Irene Noszian</name></country><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></region></country><country name="Hong Kong"><noRegion><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></noRegion></country><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></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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