AustralieFrV1, PubMed, Curation, bibRecord, 001358

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

Identifieur interne : 001358 ( PubMed/Curation ); précédent : 001357; suivant : 001359

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

Auteurs : Julie Soblet [Belgique] ; Jaakko Kangas [Finlande] ; Marjut N Tynki [Finlande] ; Antonella Mendola [Belgique] ; Raphaël Helaers [Belgique] ; Melanie Uebelhoer [Belgique] ; Mika Kaakinen [Finlande] ; Maria Cordisco [Argentine] ; Anne Dompmartin [France] ; Odile Enjolras [France] ; Simon Holden [Royaume-Uni] ; Alan D. Irvine [Irlande (pays)] ; Loshan Kangesu [Royaume-Uni] ; Christine Léauté-Labrèze [France] ; Agustina Lanoel [Argentine] ; Zerina Lokmic [Australie] ; Saskia Maas [Pays-Bas] ; Maeve A. Mcaleer [Irlande (pays)] ; Anthony Penington [Australie] ; Paul Rieu [Pays-Bas] ; Samira Syed [Royaume-Uni] ; Carine Van Der Vleuten [Pays-Bas] ; Rosemarie Watson [Irlande (pays)] ; Steven J. Fishman [États-Unis] ; John B. Mulliken [États-Unis] ; Lauri Eklund [Finlande] ; Nisha Limaye [Belgique] ; Laurence M. Boon [Belgique] ; Miikka Vikkula [Belgique]

Source :

The Journal of investigative dermatology [ 1523-1747 ] ; 2017.

RBID : pubmed:27519652

Descripteurs français

KwdFr :
- Anomalies vasculaires (diagnostic), Anomalies vasculaires (génétique), Belgique, Femelle, Humains, Incidence, Maladies rares, Mutation, Mâle, Naevus bleu (diagnostic), Naevus bleu (génétique), Prédisposition génétique à une maladie (épidémiologie), Récepteur TIE-2 (génétique), Tumeurs cutanées (diagnostic), Tumeurs cutanées (génétique), Tumeurs gastro-intestinales (diagnostic), Tumeurs gastro-intestinales (génétique), Études de cohortes.
MESH :
- diagnostic : Anomalies vasculaires, Naevus bleu, Tumeurs cutanées, Tumeurs gastro-intestinales.
- génétique : Anomalies vasculaires, Naevus bleu, Récepteur TIE-2, Tumeurs cutanées, Tumeurs gastro-intestinales.
- épidémiologie : Prédisposition génétique à une maladie.
- Belgique, Femelle, Humains, Incidence, Maladies rares, Mutation, Mâle, Études de cohortes.

English descriptors

KwdEn :
- Belgium, Cohort Studies, Female, Gastrointestinal Neoplasms (diagnosis), Gastrointestinal Neoplasms (genetics), Genetic Predisposition to Disease (epidemiology), Humans, Incidence, Male, Mutation, Nevus, Blue (diagnosis), Nevus, Blue (genetics), Rare Diseases, Receptor, TIE-2 (genetics), Skin Neoplasms (diagnosis), Skin Neoplasms (genetics), Vascular Malformations (diagnosis), Vascular Malformations (genetics).
MESH :
- chemical , genetics : Receptor, TIE-2.
- diagnosis : Gastrointestinal Neoplasms, Nevus, Blue, Skin Neoplasms, Vascular Malformations.
- epidemiology : Genetic Predisposition to Disease.
- genetics : Gastrointestinal Neoplasms, Nevus, Blue, Skin Neoplasms, Vascular Malformations.
- Belgium, Cohort Studies, Female, Humans, Incidence, Male, Mutation, Rare Diseases.

Abstract

Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.

DOI: 10.1016/j.jid.2016.07.034
PubMed: 27519652

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001380

Links to Exploration step

pubmed:27519652

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.</title>
<author><name sortKey="Soblet, Julie" sort="Soblet, Julie" uniqKey="Soblet J" first="Julie" last="Soblet">Julie Soblet</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kangas, Jaakko" sort="Kangas, Jaakko" uniqKey="Kangas J" first="Jaakko" last="Kangas">Jaakko Kangas</name>
<affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="N Tynki, Marjut" sort="N Tynki, Marjut" uniqKey="N Tynki M" first="Marjut" last="N Tynki">Marjut N Tynki</name>
<affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Helaers, Raphael" sort="Helaers, Raphael" uniqKey="Helaers R" first="Raphaël" last="Helaers">Raphaël Helaers</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Uebelhoer, Melanie" sort="Uebelhoer, Melanie" uniqKey="Uebelhoer M" first="Melanie" last="Uebelhoer">Melanie Uebelhoer</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kaakinen, Mika" sort="Kaakinen, Mika" uniqKey="Kaakinen M" first="Mika" last="Kaakinen">Mika Kaakinen</name>
<affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cordisco, Maria" sort="Cordisco, Maria" uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Department of Dermatology, Hospital Garrahan, Buenos Aires</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Enjolras, Odile" sort="Enjolras, Odile" uniqKey="Enjolras O" first="Odile" last="Enjolras">Odile Enjolras</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Holden, Simon" sort="Holden, Simon" uniqKey="Holden S" first="Simon" last="Holden">Simon Holden</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea>
</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:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kangesu, Loshan" sort="Kangesu, Loshan" uniqKey="Kangesu L" first="Loshan" last="Kangesu">Loshan Kangesu</name>
<affiliation wicri:level="1"><nlm:affiliation>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Leaute Labreze, Christine" sort="Leaute Labreze, Christine" uniqKey="Leaute Labreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name>
<affiliation wicri:level="1"><nlm:affiliation>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Department of Dermatology, Hospital Garrahan, Buenos Aires</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lokmic, Zerina" sort="Lokmic, Zerina" uniqKey="Lokmic Z" first="Zerina" last="Lokmic">Zerina Lokmic</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Maas, Saskia" sort="Maas, Saskia" uniqKey="Maas S" first="Saskia" last="Maas">Saskia Maas</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mcaleer, Maeve A" sort="Mcaleer, Maeve A" uniqKey="Mcaleer M" first="Maeve A" last="Mcaleer">Maeve A. Mcaleer</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Penington, Anthony" sort="Penington, Anthony" uniqKey="Penington A" first="Anthony" last="Penington">Anthony Penington</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rieu, Paul" sort="Rieu, Paul" uniqKey="Rieu P" first="Paul" last="Rieu">Paul Rieu</name>
<affiliation wicri:level="1"><nlm:affiliation>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name>
<affiliation wicri:level="1"><nlm:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Der Vleuten, Carine" sort="Van Der Vleuten, Carine" uniqKey="Van Der Vleuten C" first="Carine" last="Van Der Vleuten">Carine Van Der Vleuten</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Watson, Rosemarie" sort="Watson, Rosemarie" uniqKey="Watson R" first="Rosemarie" last="Watson">Rosemarie Watson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fishman, Steven J" sort="Fishman, Steven J" uniqKey="Fishman S" first="Steven J" last="Fishman">Steven J. Fishman</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B" last="Mulliken">John B. Mulliken</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Eklund, Lauri" sort="Eklund, Lauri" uniqKey="Eklund L" first="Lauri" last="Eklund">Lauri Eklund</name>
<affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Limaye, Nisha" sort="Limaye, Nisha" uniqKey="Limaye N" first="Nisha" last="Limaye">Nisha Limaye</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2017">2017</date>
<idno type="RBID">pubmed:27519652</idno>
<idno type="pmid">27519652</idno>
<idno type="doi">10.1016/j.jid.2016.07.034</idno>
<idno type="wicri:Area/PubMed/Corpus">001380</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001380</idno>
<idno type="wicri:Area/PubMed/Curation">001358</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001358</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.</title>
<author><name sortKey="Soblet, Julie" sort="Soblet, Julie" uniqKey="Soblet J" first="Julie" last="Soblet">Julie Soblet</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kangas, Jaakko" sort="Kangas, Jaakko" uniqKey="Kangas J" first="Jaakko" last="Kangas">Jaakko Kangas</name>
<affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="N Tynki, Marjut" sort="N Tynki, Marjut" uniqKey="N Tynki M" first="Marjut" last="N Tynki">Marjut N Tynki</name>
<affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Helaers, Raphael" sort="Helaers, Raphael" uniqKey="Helaers R" first="Raphaël" last="Helaers">Raphaël Helaers</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Uebelhoer, Melanie" sort="Uebelhoer, Melanie" uniqKey="Uebelhoer M" first="Melanie" last="Uebelhoer">Melanie Uebelhoer</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kaakinen, Mika" sort="Kaakinen, Mika" uniqKey="Kaakinen M" first="Mika" last="Kaakinen">Mika Kaakinen</name>
<affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cordisco, Maria" sort="Cordisco, Maria" uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Department of Dermatology, Hospital Garrahan, Buenos Aires</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Enjolras, Odile" sort="Enjolras, Odile" uniqKey="Enjolras O" first="Odile" last="Enjolras">Odile Enjolras</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Holden, Simon" sort="Holden, Simon" uniqKey="Holden S" first="Simon" last="Holden">Simon Holden</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea>
</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:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kangesu, Loshan" sort="Kangesu, Loshan" uniqKey="Kangesu L" first="Loshan" last="Kangesu">Loshan Kangesu</name>
<affiliation wicri:level="1"><nlm:affiliation>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Leaute Labreze, Christine" sort="Leaute Labreze, Christine" uniqKey="Leaute Labreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name>
<affiliation wicri:level="1"><nlm:affiliation>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Department of Dermatology, Hospital Garrahan, Buenos Aires</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lokmic, Zerina" sort="Lokmic, Zerina" uniqKey="Lokmic Z" first="Zerina" last="Lokmic">Zerina Lokmic</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Maas, Saskia" sort="Maas, Saskia" uniqKey="Maas S" first="Saskia" last="Maas">Saskia Maas</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mcaleer, Maeve A" sort="Mcaleer, Maeve A" uniqKey="Mcaleer M" first="Maeve A" last="Mcaleer">Maeve A. Mcaleer</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Penington, Anthony" sort="Penington, Anthony" uniqKey="Penington A" first="Anthony" last="Penington">Anthony Penington</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rieu, Paul" sort="Rieu, Paul" uniqKey="Rieu P" first="Paul" last="Rieu">Paul Rieu</name>
<affiliation wicri:level="1"><nlm:affiliation>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name>
<affiliation wicri:level="1"><nlm:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Der Vleuten, Carine" sort="Van Der Vleuten, Carine" uniqKey="Van Der Vleuten C" first="Carine" last="Van Der Vleuten">Carine Van Der Vleuten</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Watson, Rosemarie" sort="Watson, Rosemarie" uniqKey="Watson R" first="Rosemarie" last="Watson">Rosemarie Watson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fishman, Steven J" sort="Fishman, Steven J" uniqKey="Fishman S" first="Steven J" last="Fishman">Steven J. Fishman</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B" last="Mulliken">John B. Mulliken</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Eklund, Lauri" sort="Eklund, Lauri" uniqKey="Eklund L" first="Lauri" last="Eklund">Lauri Eklund</name>
<affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Limaye, Nisha" sort="Limaye, Nisha" uniqKey="Limaye N" first="Nisha" last="Limaye">Nisha Limaye</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">The Journal of investigative dermatology</title>
<idno type="eISSN">1523-1747</idno>
<imprint><date when="2017" type="published">2017</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Belgium</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Gastrointestinal Neoplasms (diagnosis)</term>
<term>Gastrointestinal Neoplasms (genetics)</term>
<term>Genetic Predisposition to Disease (epidemiology)</term>
<term>Humans</term>
<term>Incidence</term>
<term>Male</term>
<term>Mutation</term>
<term>Nevus, Blue (diagnosis)</term>
<term>Nevus, Blue (genetics)</term>
<term>Rare Diseases</term>
<term>Receptor, TIE-2 (genetics)</term>
<term>Skin Neoplasms (diagnosis)</term>
<term>Skin Neoplasms (genetics)</term>
<term>Vascular Malformations (diagnosis)</term>
<term>Vascular Malformations (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Anomalies vasculaires (diagnostic)</term>
<term>Anomalies vasculaires (génétique)</term>
<term>Belgique</term>
<term>Femelle</term>
<term>Humains</term>
<term>Incidence</term>
<term>Maladies rares</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Naevus bleu (diagnostic)</term>
<term>Naevus bleu (génétique)</term>
<term>Prédisposition génétique à une maladie (épidémiologie)</term>
<term>Récepteur TIE-2 (génétique)</term>
<term>Tumeurs cutanées (diagnostic)</term>
<term>Tumeurs cutanées (génétique)</term>
<term>Tumeurs gastro-intestinales (diagnostic)</term>
<term>Tumeurs gastro-intestinales (génétique)</term>
<term>Études de cohortes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptor, TIE-2</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gastrointestinal Neoplasms</term>
<term>Nevus, Blue</term>
<term>Skin Neoplasms</term>
<term>Vascular Malformations</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anomalies vasculaires</term>
<term>Naevus bleu</term>
<term>Tumeurs cutanées</term>
<term>Tumeurs gastro-intestinales</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Genetic Predisposition to Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gastrointestinal Neoplasms</term>
<term>Nevus, Blue</term>
<term>Skin Neoplasms</term>
<term>Vascular Malformations</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies vasculaires</term>
<term>Naevus bleu</term>
<term>Récepteur TIE-2</term>
<term>Tumeurs cutanées</term>
<term>Tumeurs gastro-intestinales</term>
</keywords>
<keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Prédisposition génétique à une maladie</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Belgium</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Humans</term>
<term>Incidence</term>
<term>Male</term>
<term>Mutation</term>
<term>Rare Diseases</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Belgique</term>
<term>Femelle</term>
<term>Humains</term>
<term>Incidence</term>
<term>Maladies rares</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Études de cohortes</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27519652</PMID>
<DateCreated><Year>2016</Year>
<Month>08</Month>
<Day>13</Day>
</DateCreated>
<DateCompleted><Year>2017</Year>
<Month>07</Month>
<Day>19</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>07</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1523-1747</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>137</Volume>
<Issue>1</Issue>
<PubDate><Year>2017</Year>
<Month>Jan</Month>
</PubDate>
</JournalIssue>
<Title>The Journal of investigative dermatology</Title>
<ISOAbbreviation>J. Invest. Dermatol.</ISOAbbreviation>
</Journal>
<ArticleTitle>Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.</ArticleTitle>
<Pagination><MedlinePgn>207-216</MedlinePgn>
</Pagination>
<ELocationID EIdType="pii" ValidYN="Y">S0022-202X(16)32252-7</ELocationID>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.jid.2016.07.034</ELocationID>
<Abstract><AbstractText>Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.</AbstractText>
<CopyrightInformation>Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Soblet</LastName>
<ForeName>Julie</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kangas</LastName>
<ForeName>Jaakko</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nätynki</LastName>
<ForeName>Marjut</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mendola</LastName>
<ForeName>Antonella</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Helaers</LastName>
<ForeName>Raphaël</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Uebelhoer</LastName>
<ForeName>Melanie</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kaakinen</LastName>
<ForeName>Mika</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cordisco</LastName>
<ForeName>Maria</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Dompmartin</LastName>
<ForeName>Anne</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Enjolras</LastName>
<ForeName>Odile</ForeName>
<Initials>O</Initials>
<AffiliationInfo><Affiliation>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Holden</LastName>
<ForeName>Simon</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Irvine</LastName>
<ForeName>Alan D</ForeName>
<Initials>AD</Initials>
<AffiliationInfo><Affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kangesu</LastName>
<ForeName>Loshan</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Léauté-Labrèze</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lanoel</LastName>
<ForeName>Agustina</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lokmic</LastName>
<ForeName>Zerina</ForeName>
<Initials>Z</Initials>
<AffiliationInfo><Affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Maas</LastName>
<ForeName>Saskia</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>McAleer</LastName>
<ForeName>Maeve A</ForeName>
<Initials>MA</Initials>
<AffiliationInfo><Affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Penington</LastName>
<ForeName>Anthony</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rieu</LastName>
<ForeName>Paul</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Syed</LastName>
<ForeName>Samira</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>van der Vleuten</LastName>
<ForeName>Carine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Watson</LastName>
<ForeName>Rosemarie</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Fishman</LastName>
<ForeName>Steven J</ForeName>
<Initials>SJ</Initials>
<AffiliationInfo><Affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mulliken</LastName>
<ForeName>John B</ForeName>
<Initials>JB</Initials>
<AffiliationInfo><Affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Eklund</LastName>
<ForeName>Lauri</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Limaye</LastName>
<ForeName>Nisha</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Boon</LastName>
<ForeName>Laurence M</ForeName>
<Initials>LM</Initials>
<AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vikkula</LastName>
<ForeName>Miikka</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>08</Month>
<Day>09</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>J Invest Dermatol</MedlineTA>
<NlmUniqueID>0426720</NlmUniqueID>
<ISSNLinking>0022-202X</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber>
<NameOfSubstance UI="D042787">Receptor, TIE-2</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList><SupplMeshName Type="Disease" UI="C536240">Blue rubber bleb nevus syndrome</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D001530" MajorTopicYN="N">Belgium</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005770" MajorTopicYN="N">Gastrointestinal Neoplasms</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015994" MajorTopicYN="N">Incidence</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D018329" MajorTopicYN="N">Nevus, Blue</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D035583" MajorTopicYN="N">Rare Diseases</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D042787" MajorTopicYN="N">Receptor, TIE-2</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012878" MajorTopicYN="N">Skin Neoplasms</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D054079" MajorTopicYN="N">Vascular Malformations</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>04</Month>
<Day>29</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2016</Year>
<Month>07</Month>
<Day>11</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>07</Month>
<Day>14</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2016</Year>
<Month>8</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2017</Year>
<Month>7</Month>
<Day>20</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2016</Year>
<Month>8</Month>
<Day>14</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">27519652</ArticleId>
<ArticleId IdType="pii">S0022-202X(16)32252-7</ArticleId>
<ArticleId IdType="doi">10.1016/j.jid.2016.07.034</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PubMed/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001358 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 001358 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    PubMed
   |étape=   Curation
   |type=    RBID
   |clé=     pubmed:27519652
   |texte=   Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i   -Sk "pubmed:27519652" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a AustralieFrV1

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur les relations entre la France et l'Australie

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki