Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back
Identifieur interne : 003816 ( Ncbi/Curation ); précédent : 003815; suivant : 003817Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back
Auteurs : Katherine A. Rauen [États-Unis] ; Lisa Schoyer [États-Unis] ; Frank Mccormick [États-Unis] ; Angela E. Lin [États-Unis] ; Judith E. Allanson [Canada] ; David A. Stevenson [États-Unis] ; Karen W. Gripp [États-Unis] ; Giovanni Neri [Italie] ; John C. Carey [États-Unis] ; Eric Legius [Belgique] ; Marco Tartaglia [Italie] ; Suzanne Schubbert [États-Unis] ; Amy E. Roberts [États-Unis] ; Bruce D. Gelb [États-Unis] ; Kevin Shannon [États-Unis] ; David H. Gutmann [États-Unis] ; Martin Mcmahon [États-Unis] ; Carmen Guerra [Espagne] ; James A. Fagin [États-Unis] ; Benjamin Yu [États-Unis] ; Yoko Aoki [Japon] ; Ben G. Neel [Canada] ; Allan Balmain [États-Unis] ; Richard R. Drake [États-Unis] ; Garry P. Nolan [États-Unis] ; Martin Zenker [Allemagne] ; Gideon Bollag [États-Unis] ; Judith Sebolt-Leopold [États-Unis] ; Jackson B. Gibbs [États-Unis] ; Alcino J. Silva [États-Unis] ; E. Elizabeth Patton [Royaume-Uni] ; David H. Viskochil [États-Unis] ; Mark W. Kieran [États-Unis] ; Bruce R. Korf [États-Unis] ; Randi J. Hagerman [États-Unis] ; Roger J. Packer [États-Unis] ; Teri Melese [États-Unis]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2010.
Abstract
The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back” chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies was successfully meet with a commitment to begin to move towards clinical trials.
Url:
DOI: 10.1002/ajmg.a.33183
PubMed: 20014119
PubMed Central: 4051786
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<wicri:regionArea>Alfred I. duPont Hospital for Children, Wilmington DE</wicri:regionArea>
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<wicri:regionArea>Universita Cattolica del S. Cuore, Rome</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="A5">University of Utah, Salt Lake City, UT, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Utah, Salt Lake City, UT</wicri:regionArea>
<wicri:noRegion>UT</wicri:noRegion>
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<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="A8">Catholic University Leuven, Leuven, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Catholic University Leuven, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
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<author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name>
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<author><name sortKey="Schubbert, Suzanne" sort="Schubbert, Suzanne" uniqKey="Schubbert S" first="Suzanne" last="Schubbert">Suzanne Schubbert</name>
<affiliation wicri:level="1"><nlm:aff id="A10">University of California, Los Angeles, Los Angeles, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, Los Angeles, Los Angeles, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
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<author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Children’s Hospital Boston, Boston, MA</wicri:regionArea>
<wicri:noRegion>MA</wicri:noRegion>
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<author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Mount Sinai School of Medicine, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
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<author><name sortKey="Shannon, Kevin" sort="Shannon, Kevin" uniqKey="Shannon K" first="Kevin" last="Shannon">Kevin Shannon</name>
<affiliation wicri:level="1"><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, San Francisco, San Francisco, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
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<author><name sortKey="Gutmann, David H" sort="Gutmann, David H" uniqKey="Gutmann D" first="David H." last="Gutmann">David H. Gutmann</name>
<affiliation wicri:level="4"><nlm:aff id="A13">Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
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<placeName><settlement type="city">Saint-Louis (Missouri)</settlement>
<region type="state">Missouri (État)</region>
</placeName>
</affiliation>
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<author><name sortKey="Mcmahon, Martin" sort="Mcmahon, Martin" uniqKey="Mcmahon M" first="Martin" last="Mcmahon">Martin Mcmahon</name>
<affiliation wicri:level="1"><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, San Francisco, San Francisco, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
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</author>
<author><name sortKey="Guerra, Carmen" sort="Guerra, Carmen" uniqKey="Guerra C" first="Carmen" last="Guerra">Carmen Guerra</name>
<affiliation wicri:level="3"><nlm:aff id="A14">Spanish National Cancer Research Center, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Spanish National Cancer Research Center, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
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<author><name sortKey="Fagin, James A" sort="Fagin, James A" uniqKey="Fagin J" first="James A." last="Fagin">James A. Fagin</name>
<affiliation wicri:level="1"><nlm:aff id="A15">Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Memorial Sloan-Kettering Cancer Center, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
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</author>
<author><name sortKey="Yu, Benjamin" sort="Yu, Benjamin" uniqKey="Yu B" first="Benjamin" last="Yu">Benjamin Yu</name>
<affiliation wicri:level="1"><nlm:aff id="A16">University of California, San Diego, La Jolla, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, San Diego, La Jolla, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
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</author>
<author><name sortKey="Aoki, Yoko" sort="Aoki, Yoko" uniqKey="Aoki Y" first="Yoko" last="Aoki">Yoko Aoki</name>
<affiliation wicri:level="1"><nlm:aff id="A17">Tohoku University School of Medicine, Sendai, Miyagi, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Tohoku University School of Medicine, Sendai, Miyagi</wicri:regionArea>
<wicri:noRegion>Miyagi</wicri:noRegion>
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</author>
<author><name sortKey="Neel, Ben G" sort="Neel, Ben G" uniqKey="Neel B" first="Ben G." last="Neel">Ben G. Neel</name>
<affiliation wicri:level="1"><nlm:aff id="A18">Ontario Cancer Institute, Toronto, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Ontario Cancer Institute, Toronto</wicri:regionArea>
<wicri:noRegion>Toronto</wicri:noRegion>
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</author>
<author><name sortKey="Balmain, Allan" sort="Balmain, Allan" uniqKey="Balmain A" first="Allan" last="Balmain">Allan Balmain</name>
<affiliation wicri:level="1"><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, San Francisco, San Francisco, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
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<author><name sortKey="Drake, Richard R" sort="Drake, Richard R" uniqKey="Drake R" first="Richard R." last="Drake">Richard R. Drake</name>
<affiliation wicri:level="1"><nlm:aff id="A19">Eastern Virginia Medical School, Norfolk, VA, USA</nlm:aff>
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<wicri:regionArea>Eastern Virginia Medical School, Norfolk, VA</wicri:regionArea>
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<author><name sortKey="Nolan, Garry P" sort="Nolan, Garry P" uniqKey="Nolan G" first="Garry P." last="Nolan">Garry P. Nolan</name>
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<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
<affiliation wicri:level="1"><nlm:aff id="A21">University Hospital Erlangen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>University Hospital Erlangen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bollag, Gideon" sort="Bollag, Gideon" uniqKey="Bollag G" first="Gideon" last="Bollag">Gideon Bollag</name>
<affiliation wicri:level="1"><nlm:aff id="A22">Plexxikon, Berkeley, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Plexxikon, Berkeley, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
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</author>
<author><name sortKey="Sebolt Leopold, Judith" sort="Sebolt Leopold, Judith" uniqKey="Sebolt Leopold J" first="Judith" last="Sebolt-Leopold">Judith Sebolt-Leopold</name>
<affiliation wicri:level="1"><nlm:aff id="A23">Oncovera Therapeutics, Inc., Ann Arbor, MI, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Oncovera Therapeutics, Inc., Ann Arbor, MI</wicri:regionArea>
<wicri:noRegion>MI</wicri:noRegion>
</affiliation>
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<author><name sortKey="Gibbs, Jackson B" sort="Gibbs, Jackson B" uniqKey="Gibbs J" first="Jackson B." last="Gibbs">Jackson B. Gibbs</name>
<affiliation wicri:level="1"><nlm:aff id="A24">AstraZeneca, Waltham, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>AstraZeneca, Waltham, MA</wicri:regionArea>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Silva, Alcino J" sort="Silva, Alcino J" uniqKey="Silva A" first="Alcino J." last="Silva">Alcino J. Silva</name>
<affiliation wicri:level="1"><nlm:aff id="A10">University of California, Los Angeles, Los Angeles, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, Los Angeles, Los Angeles, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Patton, E Elizabeth" sort="Patton, E Elizabeth" uniqKey="Patton E" first="E. Elizabeth" last="Patton">E. Elizabeth Patton</name>
<affiliation wicri:level="1"><nlm:aff id="A25">Edinburgh Cancer Research Centre, Edinburgh, Scotland, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Edinburgh Cancer Research Centre, Edinburgh, Scotland</wicri:regionArea>
<wicri:noRegion>Scotland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Viskochil, David H" sort="Viskochil, David H" uniqKey="Viskochil D" first="David H." last="Viskochil">David H. Viskochil</name>
<affiliation wicri:level="1"><nlm:aff id="A5">University of Utah, Salt Lake City, UT, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Utah, Salt Lake City, UT</wicri:regionArea>
<wicri:noRegion>UT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kieran, Mark W" sort="Kieran, Mark W" uniqKey="Kieran M" first="Mark W." last="Kieran">Mark W. Kieran</name>
<affiliation wicri:level="1"><nlm:aff id="A26">Dana Farber Cancer Institute, Boston, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Dana Farber Cancer Institute, Boston, MA</wicri:regionArea>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Korf, Bruce R" sort="Korf, Bruce R" uniqKey="Korf B" first="Bruce R." last="Korf">Bruce R. Korf</name>
<affiliation wicri:level="1"><nlm:aff id="A27">University of Alabama at Birmingham, Birmingham, AL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Alabama at Birmingham, Birmingham, AL</wicri:regionArea>
<wicri:noRegion>AL</wicri:noRegion>
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</author>
<author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name>
<affiliation wicri:level="1"><nlm:aff id="A28">University of California, Davis, Davis, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, Davis, Davis, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Packer, Roger J" sort="Packer, Roger J" uniqKey="Packer R" first="Roger J." last="Packer">Roger J. Packer</name>
<affiliation wicri:level="3"><nlm:aff id="A29">Children’s National Medical Center, Washington DC, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Children’s National Medical Center, Washington DC</wicri:regionArea>
<placeName><settlement type="city">Washington (district de Columbia)</settlement>
<region type="state">District de Columbia</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Melese, Teri" sort="Melese, Teri" uniqKey="Melese T" first="Teri" last="Melese">Teri Melese</name>
<affiliation wicri:level="1"><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, San Francisco, San Francisco, CA</wicri:regionArea>
<wicri:noRegion>CA</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American journal of medical genetics. Part A</title>
<idno type="ISSN">1552-4825</idno>
<idno type="eISSN">1552-4833</idno>
<imprint><date when="2010">2010</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p id="P1">The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back” chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies was successfully meet with a commitment to begin to move towards clinical trials.</p>
</div>
</front>
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