Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues
Identifieur interne : 002595 ( Main/Exploration ); précédent : 002594; suivant : 002596Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues
Auteurs : Katherine A. Rauen [États-Unis] ; Susan M. Huson [Royaume-Uni] ; Emma Burkitt-Wright [Royaume-Uni] ; D Gareth Evans [Royaume-Uni] ; Said Farschtschi [Allemagne] ; Rosalie E. Ferner [Royaume-Uni] ; David H. Gutmann [États-Unis] ; C Oliver Hanemann [Royaume-Uni] ; Bronwyn Kerr [Royaume-Uni] ; Eric Legius [Belgique] ; Luis F. Parada [États-Unis] ; Michael Patton [Royaume-Uni] ; Juha Peltonen [Finlande] ; Nancy Ratner [États-Unis] ; Vincent M. Riccardi [États-Unis] ; Thijs Van Der Vaart [Pays-Bas] ; Miikka Vikkula [Belgique] ; David H. Viskochil [États-Unis] ; Martin Zenker [Allemagne] ; Meena Upadhyaya [Royaume-Uni]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2014.
Abstract
Neurofibromatosis type 1 was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues” chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies.
Url:
DOI: 10.1002/ajmg.a.36793
PubMed: 25393061
PubMed Central: 4275383
Affiliations:
- Allemagne, Belgique, Finlande, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Grand Londres, Grand Manchester, Hollande-Méridionale, Région de Bruxelles-Capitale, Saxe-Anhalt
- Bruxelles, Londres, Louvain-la-Neuve, Magdebourg, Manchester, Rotterdam
- Université catholique de Louvain, Université de Manchester
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Parada</name><affiliation wicri:level="1"><nlm:aff id="A11"> University of Texas at Dallas, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> University of Texas at Dallas, TX</wicri:regionArea><wicri:noRegion>TX</wicri:noRegion></affiliation></author><author><name sortKey="Patton, Michael" sort="Patton, Michael" uniqKey="Patton M" first="Michael" last="Patton">Michael Patton</name><affiliation wicri:level="3"><nlm:aff id="A12"> St Georges University, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> St Georges University, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Peltonen, Juha" sort="Peltonen, Juha" uniqKey="Peltonen J" first="Juha" last="Peltonen">Juha Peltonen</name><affiliation wicri:level="1"><nlm:aff id="A13"> University of Turku, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea> University of Turku</wicri:regionArea></affiliation></author><author><name sortKey="Ratner, Nancy" sort="Ratner, Nancy" uniqKey="Ratner N" first="Nancy" last="Ratner">Nancy Ratner</name><affiliation wicri:level="1"><nlm:aff id="A14"> University of Cincinnati, Cincinnati , OH, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> University of Cincinnati, Cincinnati , OH</wicri:regionArea><wicri:noRegion>OH</wicri:noRegion></affiliation></author><author><name sortKey="Riccardi, Vincent M" sort="Riccardi, Vincent M" uniqKey="Riccardi V" first="Vincent M." last="Riccardi">Vincent M. 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Viskochil</name><affiliation wicri:level="1"><nlm:aff id="A18"> 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="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation wicri:level="3"><nlm:aff id="A19"> University Hospital Magdeburg, Magdeburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea> University Hospital Magdeburg, Magdeburg</wicri:regionArea><placeName><region type="land" nuts="2">Saxe-Anhalt</region><settlement type="city">Magdebourg</settlement></placeName></affiliation></author><author><name sortKey="Upadhyaya, Meena" sort="Upadhyaya, Meena" uniqKey="Upadhyaya M" first="Meena" last="Upadhyaya">Meena Upadhyaya</name><affiliation wicri:level="1"><nlm:aff id="A20"> Cardiff University, Cardiff, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25393061</idno><idno type="pmc">4275383</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4275383</idno><idno type="RBID">PMC:4275383</idno><idno type="doi">10.1002/ajmg.a.36793</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">003499</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003499</idno><idno type="wicri:Area/Pmc/Curation">003498</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003498</idno><idno type="wicri:Area/Pmc/Checkpoint">001832</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001832</idno><idno type="wicri:Area/Ncbi/Merge">006D01</idno><idno type="wicri:Area/Ncbi/Curation">006D01</idno><idno type="wicri:Area/Ncbi/Checkpoint">006D01</idno><idno type="wicri:doubleKey">1552-4825:2014:Rauen K:recent:developments:in</idno><idno type="wicri:Area/Main/Merge">002599</idno><idno type="wicri:Area/Main/Curation">002595</idno><idno type="wicri:Area/Main/Exploration">002595</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues</title><author><name sortKey="Rauen, Katherine A" sort="Rauen, Katherine A" uniqKey="Rauen K" first="Katherine A." last="Rauen">Katherine A. Rauen</name><affiliation wicri:level="1"><nlm:aff id="A1"> University of California at Davis, S acramento, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> University of California at Davis, S acramento, CA</wicri:regionArea><wicri:noRegion>CA</wicri:noRegion></affiliation></author><author><name sortKey="Huson, Susan M" sort="Huson, Susan M" uniqKey="Huson S" first="Susan M." last="Huson">Susan M. Huson</name><affiliation wicri:level="3"><nlm:aff id="A2"> Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Central Manchester University Hospitals NHS Foundation Trust, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Burkitt Wright, Emma" sort="Burkitt Wright, Emma" uniqKey="Burkitt Wright E" first="Emma" last="Burkitt-Wright">Emma Burkitt-Wright</name><affiliation wicri:level="4"><nlm:aff id="A3"> University of Manchester, Central Manchester University Hospitals NHS Foundation Trust</nlm:aff><orgName type="university">Université de Manchester</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Evans, D Gareth" sort="Evans, D Gareth" uniqKey="Evans D" first="D Gareth" last="Evans">D Gareth Evans</name><affiliation wicri:level="3"><nlm:aff id="A4"> St. Mary's Hospital, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> St. Mary's Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Farschtschi, Said" sort="Farschtschi, Said" uniqKey="Farschtschi S" first="Said" last="Farschtschi">Said Farschtschi</name><affiliation wicri:level="1"><nlm:aff id="A5"> University Medical Centre Hamburg-Eppendorf Hospital, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea> University Medical Centre Hamburg-Eppendorf Hospital</wicri:regionArea></affiliation></author><author><name sortKey="Ferner, Rosalie E" sort="Ferner, Rosalie E" uniqKey="Ferner R" first="Rosalie E" last="Ferner">Rosalie E. Ferner</name><affiliation wicri:level="3"><nlm:aff id="A6">Guy's & St. Thomas’ NHS Foundation Trust London & Institute of Psychiatry, King's College, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Guy's & St. Thomas’ NHS Foundation Trust London & Institute of Psychiatry, King's College, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><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="1"><nlm:aff id="A7"> Washington University, St. Louis, MO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Washington University, St. Louis, MO</wicri:regionArea><wicri:noRegion>MO</wicri:noRegion></affiliation></author><author><name sortKey="Hanemann, C Oliver" sort="Hanemann, C Oliver" uniqKey="Hanemann C" first="C Oliver" last="Hanemann">C Oliver Hanemann</name><affiliation wicri:level="1"><nlm:aff id="A8"> Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth</wicri:regionArea><wicri:noRegion>Plymouth</wicri:noRegion></affiliation></author><author><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name><affiliation wicri:level="4"><nlm:aff id="A9"> University of Manchester, Central Manchester University Hospitals NHS Foundation Trust</nlm:aff><orgName type="university">Université de Manchester</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></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="A10"> University Hospital of Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea> University Hospital of Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Parada, Luis F" sort="Parada, Luis F" uniqKey="Parada L" first="Luis F" last="Parada">Luis F. Parada</name><affiliation wicri:level="1"><nlm:aff id="A11"> University of Texas at Dallas, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> University of Texas at Dallas, TX</wicri:regionArea><wicri:noRegion>TX</wicri:noRegion></affiliation></author><author><name sortKey="Patton, Michael" sort="Patton, Michael" uniqKey="Patton M" first="Michael" last="Patton">Michael Patton</name><affiliation wicri:level="3"><nlm:aff id="A12"> St Georges University, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> St Georges University, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Peltonen, Juha" sort="Peltonen, Juha" uniqKey="Peltonen J" first="Juha" last="Peltonen">Juha Peltonen</name><affiliation wicri:level="1"><nlm:aff id="A13"> University of Turku, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea> University of Turku</wicri:regionArea></affiliation></author><author><name sortKey="Ratner, Nancy" sort="Ratner, Nancy" uniqKey="Ratner N" first="Nancy" last="Ratner">Nancy Ratner</name><affiliation wicri:level="1"><nlm:aff id="A14"> University of Cincinnati, Cincinnati , OH, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> University of Cincinnati, Cincinnati , OH</wicri:regionArea><wicri:noRegion>OH</wicri:noRegion></affiliation></author><author><name sortKey="Riccardi, Vincent M" sort="Riccardi, Vincent M" uniqKey="Riccardi V" first="Vincent M." last="Riccardi">Vincent M. Riccardi</name><affiliation wicri:level="1"><nlm:aff id="A15"> The Neurofibromatosis Institute , La Crescenta, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> The Neurofibromatosis Institute , La Crescenta, CA</wicri:regionArea><wicri:noRegion>CA</wicri:noRegion></affiliation></author><author><name sortKey="Van Der Vaart, Thijs" sort="Van Der Vaart, Thijs" uniqKey="Van Der Vaart T" first="Thijs" last="Van Der Vaart">Thijs Van Der Vaart</name><affiliation wicri:level="3"><nlm:aff id="A16"> Erasmus MC, University Medical Centre, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Erasmus MC, University Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="4"><nlm:aff id="A17"> Université catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea> Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></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="A18"> 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="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation wicri:level="3"><nlm:aff id="A19"> University Hospital Magdeburg, Magdeburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea> University Hospital Magdeburg, Magdeburg</wicri:regionArea><placeName><region type="land" nuts="2">Saxe-Anhalt</region><settlement type="city">Magdebourg</settlement></placeName></affiliation></author><author><name sortKey="Upadhyaya, Meena" sort="Upadhyaya, Meena" uniqKey="Upadhyaya M" first="Meena" last="Upadhyaya">Meena Upadhyaya</name><affiliation wicri:level="1"><nlm:aff id="A20"> Cardiff University, Cardiff, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</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="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Neurofibromatosis type 1 was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues” chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Belgique</li><li>Finlande</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Grand Manchester</li><li>Hollande-Méridionale</li><li>Région de Bruxelles-Capitale</li><li>Saxe-Anhalt</li></region><settlement><li>Bruxelles</li><li>Londres</li><li>Louvain-la-Neuve</li><li>Magdebourg</li><li>Manchester</li><li>Rotterdam</li></settlement><orgName><li>Université catholique de Louvain</li><li>Université de Manchester</li></orgName></list><tree><country name="États-Unis"><noRegion><name sortKey="Rauen, Katherine A" sort="Rauen, Katherine A" uniqKey="Rauen K" first="Katherine A." last="Rauen">Katherine A. Rauen</name></noRegion><name sortKey="Gutmann, David H" sort="Gutmann, David H" uniqKey="Gutmann D" first="David H." last="Gutmann">David H. Gutmann</name><name sortKey="Parada, Luis F" sort="Parada, Luis F" uniqKey="Parada L" first="Luis F" last="Parada">Luis F. Parada</name><name sortKey="Ratner, Nancy" sort="Ratner, Nancy" uniqKey="Ratner N" first="Nancy" last="Ratner">Nancy Ratner</name><name sortKey="Riccardi, Vincent M" sort="Riccardi, Vincent M" uniqKey="Riccardi V" first="Vincent M." last="Riccardi">Vincent M. Riccardi</name><name sortKey="Viskochil, David H" sort="Viskochil, David H" uniqKey="Viskochil D" first="David H." last="Viskochil">David H. Viskochil</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Huson, Susan M" sort="Huson, Susan M" uniqKey="Huson S" first="Susan M." last="Huson">Susan M. Huson</name></region><name sortKey="Burkitt Wright, Emma" sort="Burkitt Wright, Emma" uniqKey="Burkitt Wright E" first="Emma" last="Burkitt-Wright">Emma Burkitt-Wright</name><name sortKey="Evans, D Gareth" sort="Evans, D Gareth" uniqKey="Evans D" first="D Gareth" last="Evans">D Gareth Evans</name><name sortKey="Ferner, Rosalie E" sort="Ferner, Rosalie E" uniqKey="Ferner R" first="Rosalie E" last="Ferner">Rosalie E. Ferner</name><name sortKey="Hanemann, C Oliver" sort="Hanemann, C Oliver" uniqKey="Hanemann C" first="C Oliver" last="Hanemann">C Oliver Hanemann</name><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name><name sortKey="Patton, Michael" sort="Patton, Michael" uniqKey="Patton M" first="Michael" last="Patton">Michael Patton</name><name sortKey="Upadhyaya, Meena" sort="Upadhyaya, Meena" uniqKey="Upadhyaya M" first="Meena" last="Upadhyaya">Meena Upadhyaya</name></country><country name="Allemagne"><noRegion><name sortKey="Farschtschi, Said" sort="Farschtschi, Said" uniqKey="Farschtschi S" first="Said" last="Farschtschi">Said Farschtschi</name></noRegion><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name></country><country name="Belgique"><noRegion><name sortKey="Legius, Eric" sort="Legius, Eric" uniqKey="Legius E" first="Eric" last="Legius">Eric Legius</name></noRegion><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></country><country name="Finlande"><noRegion><name sortKey="Peltonen, Juha" sort="Peltonen, Juha" uniqKey="Peltonen J" first="Juha" last="Peltonen">Juha Peltonen</name></noRegion></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Van Der Vaart, Thijs" sort="Van Der Vaart, Thijs" uniqKey="Van Der Vaart T" first="Thijs" last="Van Der Vaart">Thijs Van Der Vaart</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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