Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Identifieur interne : 000C73 ( PubMed/Curation ); précédent : 000C72; suivant : 000C74Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Auteurs : Elisavet Fotiou [Royaume-Uni] ; Silvia Martin-Almedina [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Shin Lin [États-Unis] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Giles Atton [Royaume-Uni] ; Iona Jeffery [Royaume-Uni] ; David C. Rees [Royaume-Uni] ; Cyril Mignot [France] ; Julie Vogt [Royaume-Uni] ; Tessa Homfray [Royaume-Uni] ; Michael P. Snyder [États-Unis] ; Stanley G. Rockson [États-Unis] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni]Source :
- Nature communications [ 2041-1723 ] ; 2015.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Analyse de séquence d'ADN, Anasarque foeto-placentaire (génétique), Anémie hémolytique congénitale (génétique), Canaux ioniques (génétique), Enfant, Enfant d'âge préscolaire, Femelle, Humains, Hétérozygote, Lymphangiectasie intestinale (génétique), Lymphangiectasie intestinale (imagerie diagnostique), Lymphoedème (génétique), Lymphoedème (imagerie diagnostique), Lymphoscintigraphie, Malformations crâniofaciales (génétique), Malformations crâniofaciales (imagerie diagnostique), Mutation, Mâle, Nouveau-né, Technique de Western.
- MESH :
- génétique : Anasarque foeto-placentaire, Anémie hémolytique congénitale, Canaux ioniques, Lymphangiectasie intestinale, Lymphoedème, Malformations crâniofaciales.
- imagerie diagnostique : Lymphangiectasie intestinale, Lymphoedème, Malformations crâniofaciales.
- Adolescent, Adulte, Analyse de séquence d'ADN, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Hétérozygote, Lymphoscintigraphie, Mutation, Mâle, Nouveau-né, Technique de Western.
English descriptors
- KwdEn :
- Adolescent, Adult, Anemia, Hemolytic, Congenital (genetics), Blotting, Western, Child, Child, Preschool, Craniofacial Abnormalities (diagnostic imaging), Craniofacial Abnormalities (genetics), Female, Heterozygote, Humans, Hydrops Fetalis (genetics), Infant, Newborn, Ion Channels (genetics), Lymphangiectasis, Intestinal (diagnostic imaging), Lymphangiectasis, Intestinal (genetics), Lymphedema (diagnostic imaging), Lymphedema (genetics), Lymphoscintigraphy, Male, Mutation, Sequence Analysis, DNA.
- MESH :
- chemical , genetics : Ion Channels.
- diagnostic imaging : Craniofacial Abnormalities, Lymphangiectasis, Intestinal, Lymphedema.
- genetics : Anemia, Hemolytic, Congenital, Craniofacial Abnormalities, Hydrops Fetalis, Lymphangiectasis, Intestinal, Lymphedema.
- Adolescent, Adult, Blotting, Western, Child, Child, Preschool, Female, Heterozygote, Humans, Infant, Newborn, Lymphoscintigraphy, Male, Mutation, Sequence Analysis, DNA.
Abstract
Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in PIEZO1, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in PIEZO1, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures.
DOI: 10.1038/ncomms9085
PubMed: 26333996
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Simpson</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guy's Hospital, London SE1 9RY, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guy's Hospital, London SE1 9RY</wicri:regionArea></affiliation></author><author><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name><affiliation wicri:level="1"><nlm:affiliation>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305</wicri:regionArea></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, St. George's Healthcare NHS Trust, London SW17 0QT, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, St. George's Healthcare NHS Trust, London SW17 0QT</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="1"><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name><affiliation wicri:level="1"><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Jeffery, Iona" sort="Jeffery, Iona" uniqKey="Jeffery I" first="Iona" last="Jeffery">Iona Jeffery</name><affiliation wicri:level="1"><nlm:affiliation>Pathology Department, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Pathology Department, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Rees, David C" sort="Rees, David C" uniqKey="Rees D" first="David C" last="Rees">David C. Rees</name><affiliation wicri:level="1"><nlm:affiliation>Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital, London SE5 9RS, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital, London SE5 9RS</wicri:regionArea></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, 75013 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, 75013 Paris</wicri:regionArea></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation wicri:level="1"><nlm:affiliation>West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG</wicri:regionArea></affiliation></author><author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name><affiliation wicri:level="1"><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Snyder, Michael P" sort="Snyder, Michael P" uniqKey="Snyder M" first="Michael P" last="Snyder">Michael P. Snyder</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Stanford University, Stanford, California 94305, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University, Stanford, California 94305</wicri:regionArea></affiliation></author><author><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G" last="Rockson">Stanley G. Rockson</name><affiliation wicri:level="1"><nlm:affiliation>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305</wicri:regionArea></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="1"><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name><affiliation wicri:level="1"><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="1"><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE</wicri:regionArea></affiliation></author></analytic><series><title level="j">Nature communications</title><idno type="eISSN">2041-1723</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Anemia, Hemolytic, Congenital (genetics)</term><term>Blotting, Western</term><term>Child</term><term>Child, Preschool</term><term>Craniofacial Abnormalities (diagnostic imaging)</term><term>Craniofacial Abnormalities (genetics)</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Hydrops Fetalis (genetics)</term><term>Infant, Newborn</term><term>Ion Channels (genetics)</term><term>Lymphangiectasis, Intestinal (diagnostic imaging)</term><term>Lymphangiectasis, Intestinal (genetics)</term><term>Lymphedema (diagnostic imaging)</term><term>Lymphedema (genetics)</term><term>Lymphoscintigraphy</term><term>Male</term><term>Mutation</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de séquence d'ADN</term><term>Anasarque foeto-placentaire (génétique)</term><term>Anémie hémolytique congénitale (génétique)</term><term>Canaux ioniques (génétique)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hétérozygote</term><term>Lymphangiectasie intestinale (génétique)</term><term>Lymphangiectasie intestinale (imagerie diagnostique)</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (imagerie diagnostique)</term><term>Lymphoscintigraphie</term><term>Malformations crâniofaciales (génétique)</term><term>Malformations crâniofaciales (imagerie diagnostique)</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Technique de Western</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ion Channels</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Craniofacial Abnormalities</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Anemia, Hemolytic, Congenital</term><term>Craniofacial Abnormalities</term><term>Hydrops Fetalis</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anasarque foeto-placentaire</term><term>Anémie hémolytique congénitale</term><term>Canaux ioniques</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Malformations crâniofaciales</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Malformations crâniofaciales</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Blotting, Western</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Infant, Newborn</term><term>Lymphoscintigraphy</term><term>Male</term><term>Mutation</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de séquence d'ADN</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hétérozygote</term><term>Lymphoscintigraphie</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Technique de Western</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in PIEZO1, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in PIEZO1, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26333996</PMID><DateCreated><Year>2015</Year><Month>09</Month><Day>03</Day></DateCreated><DateCompleted><Year>2016</Year><Month>04</Month><Day>20</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>02</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">2041-1723</ISSN><JournalIssue CitedMedium="Internet"><Volume>6</Volume><PubDate><Year>2015</Year><Month>Sep</Month><Day>03</Day></PubDate></JournalIssue><Title>Nature communications</Title><ISOAbbreviation>Nat Commun</ISOAbbreviation></Journal><ArticleTitle>Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.</ArticleTitle><Pagination><MedlinePgn>8085</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ncomms9085</ELocationID><Abstract><AbstractText>Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in PIEZO1, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in PIEZO1, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Fotiou</LastName><ForeName>Elisavet</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martin-Almedina</LastName><ForeName>Silvia</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Simpson</LastName><ForeName>Michael A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guy's Hospital, London SE1 9RY, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lin</LastName><ForeName>Shin</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Genetics, Stanford University, Stanford, California 94305, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gordon</LastName><ForeName>Kristiana</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Dermatology, St. George's Healthcare NHS Trust, London SW17 0QT, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Glen</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Atton</LastName><ForeName>Giles</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Iona</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Pathology Department, St. George's University of London, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rees</LastName><ForeName>David C</ForeName><Initials>DC</Initials><AffiliationInfo><Affiliation>Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital, London SE5 9RS, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mignot</LastName><ForeName>Cyril</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, 75013 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vogt</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Homfray</LastName><ForeName>Tessa</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Snyder</LastName><ForeName>Michael P</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>Department of Genetics, Stanford University, Stanford, California 94305, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rockson</LastName><ForeName>Stanley G</ForeName><Initials>SG</Initials><AffiliationInfo><Affiliation>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>Peter S</ForeName><Initials>PS</Initials><AffiliationInfo><Affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mansour</LastName><ForeName>Sahar</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>Pia</ForeName><Initials>P</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-2190-1356</Identifier><AffiliationInfo><Affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>F32 HL110473</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>F32HL110473</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K99 HL119617</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>BHF_FS/11/40/28739</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>BHF_PG/10/58/28477</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>BHF_SP/13/5/30288</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>K99HL119617</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>09</Month><Day>03</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Nat Commun</MedlineTA><NlmUniqueID>101528555</NlmUniqueID><ISSNLinking>2041-1723</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D007473">Ion Channels</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C515204">PIEZO1 protein, human</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C537255">Hennekam lymphangiectasia lymphedema syndrome</SupplMeshName><SupplMeshName Type="Disease" UI="C536764">Xerocytosis, hereditary</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Pathol. 2012 Jun;180(6):2561-75</RefSource><PMID Version="1">22538088</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Methods. 2010 Aug;7(8):575-6</RefSource><PMID Version="1">20676075</PMID></CommentsCorrections><CommentsCorrections 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MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019465" MajorTopicYN="N">Craniofacial Abnormalities</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006579" MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015160" MajorTopicYN="N">Hydrops Fetalis</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007473" MajorTopicYN="N">Ion Channels</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008201" MajorTopicYN="N">Lymphangiectasis, Intestinal</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D061305" MajorTopicYN="N">Lymphoscintigraphy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" 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IdType="pubmed">26333996</ArticleId><ArticleId IdType="pii">ncomms9085</ArticleId><ArticleId IdType="doi">10.1038/ncomms9085</ArticleId><ArticleId IdType="pmc">PMC4568316</ArticleId><ArticleId IdType="mid">EMS64226</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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