Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood
Identifieur interne : 000858 ( Ncbi/Checkpoint ); précédent : 000857; suivant : 000859Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood
Auteurs : Effrosyni D. Manali [Grèce] ; Marie Legendre [France] ; Nadia Nathan [France] ; Caroline Kannengiesser [France] ; Aurore Coulomb-L'Hermine [France] ; Theofanis Tsiligiannis ; Pericles Tomos [Grèce] ; Matthias Griese [Allemagne] ; Raphael Borie [France] ; Annick Clement [France] ; Serge Amselem [France] ; Bruno Crestani [France] ; Spyros A. Papiris [Grèce]Source :
- ERJ Open Research [ 2312-0541 ] ; 2019.
Abstract
The adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) is a transmembrane glycoprotein that uses energy of ATP hydrolysis to transport phospholipids into the lamellar bodies of type 2 alveolar epithelial cells (AEC) and regulates lung surfactant homeostasis. More than 200 mutations have already been described in
Url:
DOI: 10.1183/23120541.00066-2019
PubMed: 31360696
PubMed Central: 6646961
Affiliations:
- Allemagne, France, Grèce
- Attique (région), Bavière, District de Haute-Bavière, Île-de-France
- Athènes, Munich, Paris
- Université Louis-et-Maximilien de Munich
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000337
- to stream Pmc, to step Curation: 000337
- to stream Pmc, to step Checkpoint: 000943
- to stream Ncbi, to step Merge: 000858
- to stream Ncbi, to step Curation: 000858
Links to Exploration step
PMC:6646961Le document en format XML
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mutations in a patient with childhood ILD who reached adulthood</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Bi-allelic missense <italic>ABCA3</italic>
mutations in a patient with childhood ILD who reached adulthood</title>
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<author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="af9">Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Papiris, Spyros A" sort="Papiris, Spyros A" uniqKey="Papiris S" first="Spyros A." last="Papiris">Spyros A. Papiris</name>
<affiliation wicri:level="3"><nlm:aff id="af1">2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens</wicri:regionArea>
<placeName><settlement type="city">Athènes</settlement>
<region nuts="2" type="region">Attique (région)</region>
</placeName>
</affiliation>
<affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">ERJ Open Research</title>
<idno type="eISSN">2312-0541</idno>
<imprint><date when="2019">2019</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>The adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) is a transmembrane glycoprotein that uses energy of ATP hydrolysis to transport phospholipids into the lamellar bodies of type 2 alveolar epithelial cells (AEC) and regulates lung surfactant homeostasis. More than 200 mutations have already been described in <italic>ABCA3</italic>
, located on chromosome 16 [1, 2]. Patients present with a great heterogeneity of phenotypes, from lethal neonatal respiratory distress syndrome (RDS) to childhood and rarely adult interstitial lung disease (ILD) [3, 4]. <italic>ABCA3</italic>
mutations-related lung disease inheritance is autosomal recessive, as it requires two disease-causing (bi-allelic) mutations, one from each parent.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Dean, M" uniqKey="Dean M">M Dean</name>
</author>
<author><name sortKey="Rzhetsky, A" uniqKey="Rzhetsky A">A Rzhetsky</name>
</author>
<author><name sortKey="Allikmets, R" uniqKey="Allikmets R">R Allikmets</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Beers, Mf" uniqKey="Beers M">MF Beers</name>
</author>
<author><name sortKey="Mulugeta, S" uniqKey="Mulugeta S">S Mulugeta</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shulenin, S" uniqKey="Shulenin S">S Shulenin</name>
</author>
<author><name sortKey="Nogee, Lm" uniqKey="Nogee L">LM Nogee</name>
</author>
<author><name sortKey="Annilo, T" uniqKey="Annilo T">T Annilo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bullard, Je" uniqKey="Bullard J">JE Bullard</name>
</author>
<author><name sortKey="Wert, Se" uniqKey="Wert S">SE Wert</name>
</author>
<author><name sortKey="Whitsett, Ja" uniqKey="Whitsett J">JA Whitsett</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Flamein, F" uniqKey="Flamein F">F Flamein</name>
</author>
<author><name sortKey="Riffault, L" uniqKey="Riffault L">L Riffault</name>
</author>
<author><name sortKey="Muselet Charlier, C" uniqKey="Muselet Charlier C">C Muselet-Charlier</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wambach, Ja" uniqKey="Wambach J">JA Wambach</name>
</author>
<author><name sortKey="Casey, Am" uniqKey="Casey A">AM Casey</name>
</author>
<author><name sortKey="Fishman, Mp" uniqKey="Fishman M">MP Fishman</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kroner, C" uniqKey="Kroner C">C Kröner</name>
</author>
<author><name sortKey="Wittmann, T" uniqKey="Wittmann T">T Wittmann</name>
</author>
<author><name sortKey="Reu, S" uniqKey="Reu S">S Reu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="El Boustany, P" uniqKey="El Boustany P">P El Boustany</name>
</author>
<author><name sortKey="Epaud, R" uniqKey="Epaud R">R Epaud</name>
</author>
<author><name sortKey="Grosse, C" uniqKey="Grosse C">C Grosse</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Nikolaidou, P" uniqKey="Nikolaidou P">P Nikolaidou</name>
</author>
<author><name sortKey="Charocopos, E" uniqKey="Charocopos E">E Charocopos</name>
</author>
<author><name sortKey="Anagnostopoulos, G" uniqKey="Anagnostopoulos G">G Anagnostopoulos</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Colin, Aa" uniqKey="Colin A">AA Colin</name>
</author>
<author><name sortKey="Mark, Ej" uniqKey="Mark E">EJ Mark</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Campo, I" uniqKey="Campo I">I Campo</name>
</author>
<author><name sortKey="Zorzetto, M" uniqKey="Zorzetto M">M Zorzetto</name>
</author>
<author><name sortKey="Mariani, F" uniqKey="Mariani F">F Mariani</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Coghlan, Ma" uniqKey="Coghlan M">MA Coghlan</name>
</author>
<author><name sortKey="Shifren, A" uniqKey="Shifren A">A Shifren</name>
</author>
<author><name sortKey="Huang, Hj" uniqKey="Huang H">HJ Huang</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Epaud, R" uniqKey="Epaud R">R Epaud</name>
</author>
<author><name sortKey="Delestrain, C" uniqKey="Delestrain C">C Delestrain</name>
</author>
<author><name sortKey="Louha, M" uniqKey="Louha M">M Louha</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Richards, S" uniqKey="Richards S">S Richards</name>
</author>
<author><name sortKey="Aziz, N" uniqKey="Aziz N">N Aziz</name>
</author>
<author><name sortKey="Bale, S" uniqKey="Bale S">S Bale</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Somaschini, M" uniqKey="Somaschini M">M Somaschini</name>
</author>
<author><name sortKey="Nogee, Lm" uniqKey="Nogee L">LM Nogee</name>
</author>
<author><name sortKey="Sassi, I" uniqKey="Sassi I">I Sassi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Schindlbeck, U" uniqKey="Schindlbeck U">U Schindlbeck</name>
</author>
<author><name sortKey="Wittmann, T" uniqKey="Wittmann T">T Wittmann</name>
</author>
<author><name sortKey="Hoppner, S" uniqKey="Hoppner S">S Höppner</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Braun, S" uniqKey="Braun S">S Braun</name>
</author>
<author><name sortKey="Ferner, M" uniqKey="Ferner M">M Ferner</name>
</author>
<author><name sortKey="Kronfeld, K" uniqKey="Kronfeld K">K Kronfeld</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Williamson, M" uniqKey="Williamson M">M Williamson</name>
</author>
<author><name sortKey="Wallis, C" uniqKey="Wallis C">C Wallis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Thouvenin, G" uniqKey="Thouvenin G">G Thouvenin</name>
</author>
<author><name sortKey="Nathan, N" uniqKey="Nathan N">N Nathan</name>
</author>
<author><name sortKey="Epaud, R" uniqKey="Epaud R">R Epaud</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>France</li>
<li>Grèce</li>
</country>
<region><li>Attique (région)</li>
<li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>Île-de-France</li>
</region>
<settlement><li>Athènes</li>
<li>Munich</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Louis-et-Maximilien de Munich</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Tsiligiannis, Theofanis" sort="Tsiligiannis, Theofanis" uniqKey="Tsiligiannis T" first="Theofanis" last="Tsiligiannis">Theofanis Tsiligiannis</name>
</noCountry>
<country name="Grèce"><region name="Attique (région)"><name sortKey="Manali, Effrosyni D" sort="Manali, Effrosyni D" uniqKey="Manali E" first="Effrosyni D." last="Manali">Effrosyni D. Manali</name>
</region>
<name sortKey="Papiris, Spyros A" sort="Papiris, Spyros A" uniqKey="Papiris S" first="Spyros A." last="Papiris">Spyros A. Papiris</name>
<name sortKey="Tomos, Pericles" sort="Tomos, Pericles" uniqKey="Tomos P" first="Pericles" last="Tomos">Pericles Tomos</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name>
</region>
<name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
<name sortKey="Borie, Raphael" sort="Borie, Raphael" uniqKey="Borie R" first="Raphael" last="Borie">Raphael Borie</name>
<name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name>
<name sortKey="Coulomb L Hermine, Aurore" sort="Coulomb L Hermine, Aurore" uniqKey="Coulomb L Hermine A" first="Aurore" last="Coulomb-L'Hermine">Aurore Coulomb-L'Hermine</name>
<name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<name sortKey="Kannengiesser, Caroline" sort="Kannengiesser, Caroline" uniqKey="Kannengiesser C" first="Caroline" last="Kannengiesser">Caroline Kannengiesser</name>
<name sortKey="Nathan, Nadia" sort="Nathan, Nadia" uniqKey="Nathan N" first="Nadia" last="Nathan">Nadia Nathan</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name>
</region>
</country>
</tree>
</affiliations>
</record>
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