Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Identifieur interne : 000C73 ( PubMed/Corpus ); précédent : 000C72; suivant : 000C74Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Auteurs : Elisavet Fotiou ; Silvia Martin-Almedina ; Michael A. Simpson ; Shin Lin ; Kristiana Gordon ; Glen Brice ; Giles Atton ; Iona Jeffery ; David C. Rees ; Cyril Mignot ; Julie Vogt ; Tessa Homfray ; Michael P. Snyder ; Stanley G. Rockson ; Steve Jeffery ; Peter S. Mortimer ; Sahar Mansour ; Pia OstergaardSource :
- Nature communications [ 2041-1723 ] ; 2015.
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
Links to Exploration step
pubmed:26333996Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.</title>
<author><name sortKey="Fotiou, Elisavet" sort="Fotiou, Elisavet" uniqKey="Fotiou E" first="Elisavet" last="Fotiou">Elisavet Fotiou</name>
<affiliation><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Martin Almedina, Silvia" sort="Martin Almedina, Silvia" uniqKey="Martin Almedina S" first="Silvia" last="Martin-Almedina">Silvia Martin-Almedina</name>
<affiliation><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A" last="Simpson">Michael A. Simpson</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name>
<affiliation><nlm:affiliation>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name>
<affiliation><nlm:affiliation>Department of Dermatology, St. George's Healthcare NHS Trust, London SW17 0QT, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name>
<affiliation><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Jeffery, Iona" sort="Jeffery, Iona" uniqKey="Jeffery I" first="Iona" last="Jeffery">Iona Jeffery</name>
<affiliation><nlm:affiliation>Pathology Department, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</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><nlm:affiliation>Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital, London SE5 9RS, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<affiliation><nlm:affiliation>Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, 75013 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name>
<affiliation><nlm:affiliation>West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name>
<affiliation><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</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><nlm:affiliation>Department of Genetics, Stanford University, Stanford, California 94305, USA.</nlm:affiliation>
</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><nlm:affiliation>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</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><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<affiliation><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2015">2015</date>
<idno type="RBID">pubmed:26333996</idno>
<idno type="pmid">26333996</idno>
<idno type="doi">10.1038/ncomms9085</idno>
<idno type="wicri:Area/PubMed/Corpus">000C73</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000C73</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.</title>
<author><name sortKey="Fotiou, Elisavet" sort="Fotiou, Elisavet" uniqKey="Fotiou E" first="Elisavet" last="Fotiou">Elisavet Fotiou</name>
<affiliation><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Martin Almedina, Silvia" sort="Martin Almedina, Silvia" uniqKey="Martin Almedina S" first="Silvia" last="Martin-Almedina">Silvia Martin-Almedina</name>
<affiliation><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A" last="Simpson">Michael A. Simpson</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name>
<affiliation><nlm:affiliation>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name>
<affiliation><nlm:affiliation>Department of Dermatology, St. George's Healthcare NHS Trust, London SW17 0QT, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name>
<affiliation><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Jeffery, Iona" sort="Jeffery, Iona" uniqKey="Jeffery I" first="Iona" last="Jeffery">Iona Jeffery</name>
<affiliation><nlm:affiliation>Pathology Department, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</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><nlm:affiliation>Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital, London SE5 9RS, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<affiliation><nlm:affiliation>Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, 75013 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name>
<affiliation><nlm:affiliation>West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name>
<affiliation><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</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><nlm:affiliation>Department of Genetics, Stanford University, Stanford, California 94305, USA.</nlm:affiliation>
</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><nlm:affiliation>Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</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><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation><nlm:affiliation>South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<affiliation><nlm:affiliation>Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.</nlm:affiliation>
</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="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" 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>
</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 RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):E1162-8</RefSource>
<PMID Version="1">23487776</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2013 May 9;121(19):3925-35, S1-12</RefSource>
<PMID Version="1">23479567</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Commun. 2013;4:1884</RefSource>
<PMID Version="1">23695678</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Clin Genet. 2013 Oct;84(4):303-14</RefSource>
<PMID Version="1">23621851</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Haematologica. 2014 Jan;99(1):70-5</RefSource>
<PMID Version="1">23872304</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Clin Genet. 2014 Mar;85(3):293-5</RefSource>
<PMID Version="1">23581886</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2014 Jul 15;111(28):10347-52</RefSource>
<PMID Version="1">24958852</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Hum Genet. 2014 Sep;133(9):1161-7</RefSource>
<PMID Version="1">24913602</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2014 Nov 13;515(7526):279-82</RefSource>
<PMID Version="1">25119035</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2015 May;167A(5):1082-8</RefSource>
<PMID Version="1">25712632</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Eur J Hum Genet. 2015 Dec;23(12):1634-9</RefSource>
<PMID Version="1">25804399</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nucleic Acids Res. 2010 Sep;38(16):e164</RefSource>
<PMID Version="1">20601685</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Science. 2010 Oct 1;330(6000):55-60</RefSource>
<PMID Version="1">20813920</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2011 Apr;43(4):303-5</RefSource>
<PMID Version="1">21378985</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>AJR Am J Roentgenol. 2011 Dec;197(6):1443-8</RefSource>
<PMID Version="1">22109301</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Methods Mol Biol. 2000;132:365-86</RefSource>
<PMID Version="1">10547847</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2000 Oct 1;96(7):2599-605</RefSource>
<PMID Version="1">11001917</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Prenat Diagn. 2001 Dec;21(13):1114-8</RefSource>
<PMID Version="1">11787034</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1989 Dec;34(4):593-600</RefSource>
<PMID Version="1">2624276</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 1996 Jun 15;87(12):5392-3</RefSource>
<PMID Version="1">8652859</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nucleic Acids Res. 2009 May;37(9):e67</RefSource>
<PMID Version="1">19339519</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2009 Aug 15;25(16):2078-9</RefSource>
<PMID Version="1">19505943</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Prenat Diagn. 2009 Nov;29(11):1071-4</RefSource>
<PMID Version="1">19655317</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2009 Dec;41(12):1272-4</RefSource>
<PMID Version="1">19935664</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Cell Sci. 2010 Jan 1;123(Pt 1):51-61</RefSource>
<PMID Version="1">20016066</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Hum Genet. 2010 Feb;127(2):231-41</RefSource>
<PMID Version="1">19911200</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2010 Mar 15;26(6):841-2</RefSource>
<PMID Version="1">20110278</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2012 Aug 30;120(9):1908-15</RefSource>
<PMID Version="1">22529292</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000745" MajorTopicYN="N">Anemia, Hemolytic, Congenital</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015153" MajorTopicYN="N">Blotting, Western</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002648" 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" MajorTopicYN="N">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017422" MajorTopicYN="N">Sequence Analysis, DNA</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<OtherID Source="NLM">EMS64226</OtherID>
<OtherID Source="NLM">PMC4568316</OtherID>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year>
<Month>03</Month>
<Day>04</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2015</Year>
<Month>07</Month>
<Day>15</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2015</Year>
<Month>9</Month>
<Day>4</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2015</Year>
<Month>9</Month>
<Day>4</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2016</Year>
<Month>4</Month>
<Day>21</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>epublish</PublicationStatus>
<ArticleIdList><ArticleId 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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000C73 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 000C73 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= PubMed |étape= Corpus |type= RBID |clé= pubmed:26333996 |texte= Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:26333996" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |