Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
Identifieur interne : 006F15 ( Main/Exploration ); précédent : 006F14; suivant : 006F16Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
Auteurs : Erik Schoenmakers [Royaume-Uni] ; Maura Agostini [Royaume-Uni] ; Catherine Mitchell [Royaume-Uni] ; Nadia Schoenmakers [Royaume-Uni] ; Laura Papp [Australie] ; Odelia Rajanayagam [Royaume-Uni] ; Raja Padidela [Royaume-Uni] ; Lourdes Ceron-Gutierrez ; Rainer Doffinger ; Claudia Prevosto [Royaume-Uni] ; Jian N Luan [Royaume-Uni] ; Sergio Montano [Suède] ; Jun Lu [Suède] ; Mireille Castanet [Royaume-Uni] ; Nick Clemons [Royaume-Uni] ; Matthijs Groeneveld [Royaume-Uni] ; Perrine Castets [France] ; Mahsa Karbaschi [Royaume-Uni] ; Sri Aitken [Royaume-Uni] ; Adrian Dixon [Royaume-Uni] ; Jane Williams ; Irene Campi [Royaume-Uni] ; Margaret Blount [Royaume-Uni] ; Hannah Burton [Royaume-Uni] ; Francesco Muntoni [Royaume-Uni] ; Dominic O Onovan ; Andrew Dean ; Anne Warren ; Charlotte Brierley ; David Baguley ; Pascale Guicheney [France] ; Rebecca Fitzgerald [Royaume-Uni] ; Alasdair Coles ; Hill Gaston [Royaume-Uni] ; Pamela Todd ; Arne Holmgren [Suède] ; Kum Kum Khanna [Australie] ; Marcus Cooke [Royaume-Uni] ; Robert Semple [Royaume-Uni] ; David Halsall [Royaume-Uni] ; Nicholas Wareham [Royaume-Uni] ; John Schwabe [Royaume-Uni] ; Lucia Grasso [Italie] ; Paolo Beck-Peccoz [Italie] ; Arthur Ogunko [Royaume-Uni] ; Mehul Dattani [Royaume-Uni] ; Mark Gurnell [Royaume-Uni] ; Krishna Chatterjee [Royaume-Uni]Source :
- The Journal of Clinical Investigation [ 0021-9738 ] ; 2010.
Abstract
Selenium, a trace element that is fundamental to human health, is incorporated into some proteins as selenocysteine (Sec), generating a family of selenoproteins. Sec incorporation is mediated by a multiprotein complex that includes Sec insertion sequence–binding protein 2 (SECISBP2; also known as SBP2). Here, we describe subjects with compound heterozygous defects in the
Url:
DOI: 10.1172/JCI43653
PubMed: 21084748
PubMed Central: 2993594
Affiliations:
- Australie, France, Italie, Royaume-Uni, Suède
- Angleterre, Angleterre de l'Est, Grand Londres, Lombardie, Svealand, Toscane, Île-de-France
- Cambridge, Londres, Milan, Paris, Pise, Stockholm
- Université de Cambridge, Université de Pise
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001932
- to stream Pmc, to step Curation: 001791
- to stream Pmc, to step Checkpoint: 002520
- to stream Ncbi, to step Merge: 000927
- to stream Ncbi, to step Curation: 000927
- to stream Ncbi, to step Checkpoint: 000927
- to stream Main, to step Merge: 007415
- to stream Main, to step Curation: 006F15
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans</title><author><name sortKey="Schoenmakers, Erik" sort="Schoenmakers, Erik" uniqKey="Schoenmakers E" first="Erik" last="Schoenmakers">Erik Schoenmakers</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Agostini, Maura" sort="Agostini, Maura" uniqKey="Agostini M" first="Maura" last="Agostini">Maura Agostini</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Mitchell, Catherine" sort="Mitchell, Catherine" uniqKey="Mitchell C" first="Catherine" last="Mitchell">Catherine Mitchell</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Schoenmakers, Nadia" sort="Schoenmakers, Nadia" uniqKey="Schoenmakers N" first="Nadia" last="Schoenmakers">Nadia Schoenmakers</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Papp, Laura" sort="Papp, Laura" uniqKey="Papp L" first="Laura" last="Papp">Laura Papp</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Queensland Institute for Medical Research, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Rajanayagam, Odelia" sort="Rajanayagam, Odelia" uniqKey="Rajanayagam O" first="Odelia" last="Rajanayagam">Odelia Rajanayagam</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Padidela, Raja" sort="Padidela, Raja" uniqKey="Padidela R" first="Raja" last="Padidela">Raja Padidela</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Great Ormond Street Children’s Hospital, London, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Children’s Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ceron Gutierrez, Lourdes" sort="Ceron Gutierrez, Lourdes" uniqKey="Ceron Gutierrez L" first="Lourdes" last="Ceron-Gutierrez">Lourdes Ceron-Gutierrez</name><affiliation><nlm:aff wicri:cut=" and" id="JCI43653">Department of Clinical Immunology</nlm:aff></affiliation></author><author><name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Doffinger">Rainer Doffinger</name><affiliation><nlm:aff wicri:cut=" and" id="JCI43653">Department of Clinical Immunology</nlm:aff></affiliation></author><author><name sortKey="Prevosto, Claudia" sort="Prevosto, Claudia" uniqKey="Prevosto C" first="Claudia" last="Prevosto">Claudia Prevosto</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Medicine, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Luan, Jian N" sort="Luan, Jian N" uniqKey="Luan J" first="Jian N" last="Luan">Jian N Luan</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">MRC Epidemiology Unit, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>MRC Epidemiology Unit, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Montano, Sergio" sort="Montano, Sergio" uniqKey="Montano S" first="Sergio" last="Montano">Sergio Montano</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Lu, Jun" sort="Lu, Jun" uniqKey="Lu J" first="Jun" last="Lu">Jun Lu</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Castanet, Mireille" sort="Castanet, Mireille" uniqKey="Castanet M" first="Mireille" last="Castanet">Mireille Castanet</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Clemons, Nick" sort="Clemons, Nick" uniqKey="Clemons N" first="Nick" last="Clemons">Nick Clemons</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">MRC Cancer Cell Unit, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>MRC Cancer Cell Unit, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Groeneveld, Matthijs" sort="Groeneveld, Matthijs" uniqKey="Groeneveld M" first="Matthijs" last="Groeneveld">Matthijs Groeneveld</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Castets, Perrine" sort="Castets, Perrine" uniqKey="Castets P" first="Perrine" last="Castets">Perrine Castets</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">INSERM, UMR S956, Pitié-Salpêtrière Hospital, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>INSERM, UMR S956, Pitié-Salpêtrière Hospital, 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></author><author><name sortKey="Karbaschi, Mahsa" sort="Karbaschi, Mahsa" uniqKey="Karbaschi M" first="Mahsa" last="Karbaschi">Mahsa Karbaschi</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Department of Cancer Studies, Department of Molecular Medicine, and Department of Genetics, University of Leicester, Leicester, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Cancer Studies, Department of Molecular Medicine, and Department of Genetics, University of Leicester, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Aitken, Sri" sort="Aitken, Sri" uniqKey="Aitken S" first="Sri" last="Aitken">Sri Aitken</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Radiology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Radiology, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Dixon, Adrian" sort="Dixon, Adrian" uniqKey="Dixon A" first="Adrian" last="Dixon">Adrian Dixon</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Radiology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Radiology, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Williams, Jane" sort="Williams, Jane" uniqKey="Williams J" first="Jane" last="Williams">Jane Williams</name><affiliation><nlm:aff wicri:cut=" and" id="JCI43653">Childhood Nutrition Research</nlm:aff></affiliation></author><author><name sortKey="Campi, Irene" sort="Campi, Irene" uniqKey="Campi I" first="Irene" last="Campi">Irene Campi</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Blount, Margaret" sort="Blount, Margaret" uniqKey="Blount M" first="Margaret" last="Blount">Margaret Blount</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Burton, Hannah" sort="Burton, Hannah" uniqKey="Burton H" first="Hannah" last="Burton">Hannah Burton</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="O Onovan, Dominic" sort="O Onovan, Dominic" uniqKey="O Onovan D" first="Dominic" last="O Onovan">Dominic O Onovan</name><affiliation><nlm:aff id="JCI43653">Department of Histopathology,</nlm:aff></affiliation></author><author><name sortKey="Dean, Andrew" sort="Dean, Andrew" uniqKey="Dean A" first="Andrew" last="Dean">Andrew Dean</name><affiliation><nlm:aff id="JCI43653">Department of Histopathology,</nlm:aff></affiliation></author><author><name sortKey="Warren, Anne" sort="Warren, Anne" uniqKey="Warren A" first="Anne" last="Warren">Anne Warren</name><affiliation><nlm:aff id="JCI43653">Department of Histopathology,</nlm:aff></affiliation></author><author><name sortKey="Brierley, Charlotte" sort="Brierley, Charlotte" uniqKey="Brierley C" first="Charlotte" last="Brierley">Charlotte Brierley</name><affiliation><nlm:aff id="JCI43653">Department of Neurology,</nlm:aff></affiliation></author><author><name sortKey="Baguley, David" sort="Baguley, David" uniqKey="Baguley D" first="David" last="Baguley">David Baguley</name><affiliation><nlm:aff id="JCI43653">Department of Audiology,</nlm:aff></affiliation></author><author><name sortKey="Guicheney, Pascale" sort="Guicheney, Pascale" uniqKey="Guicheney P" first="Pascale" last="Guicheney">Pascale Guicheney</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">INSERM, UMR S956, Pitié-Salpêtrière Hospital, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>INSERM, UMR S956, Pitié-Salpêtrière Hospital, 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></author><author><name sortKey="Fitzgerald, Rebecca" sort="Fitzgerald, Rebecca" uniqKey="Fitzgerald R" first="Rebecca" last="Fitzgerald">Rebecca Fitzgerald</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">MRC Cancer Cell Unit, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>MRC Cancer Cell Unit, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Coles, Alasdair" sort="Coles, Alasdair" uniqKey="Coles A" first="Alasdair" last="Coles">Alasdair Coles</name><affiliation><nlm:aff id="JCI43653">Department of Clinical Neuroscience,</nlm:aff></affiliation></author><author><name sortKey="Gaston, Hill" sort="Gaston, Hill" uniqKey="Gaston H" first="Hill" last="Gaston">Hill Gaston</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Medicine, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Todd, Pamela" sort="Todd, Pamela" uniqKey="Todd P" first="Pamela" last="Todd">Pamela Todd</name><affiliation><nlm:aff wicri:cut=", and" id="JCI43653">Department of Dermatology</nlm:aff></affiliation></author><author><name sortKey="Holmgren, Arne" sort="Holmgren, Arne" uniqKey="Holmgren A" first="Arne" last="Holmgren">Arne Holmgren</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Khanna, Kum Kum" sort="Khanna, Kum Kum" uniqKey="Khanna K" first="Kum Kum" last="Khanna">Kum Kum Khanna</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Queensland Institute for Medical Research, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Cooke, Marcus" sort="Cooke, Marcus" uniqKey="Cooke M" first="Marcus" last="Cooke">Marcus Cooke</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Department of Cancer Studies, Department of Molecular Medicine, and Department of Genetics, University of Leicester, Leicester, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Cancer Studies, Department of Molecular Medicine, and Department of Genetics, University of Leicester, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Semple, Robert" sort="Semple, Robert" uniqKey="Semple R" first="Robert" last="Semple">Robert Semple</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Halsall, David" sort="Halsall, David" uniqKey="Halsall D" first="David" last="Halsall">David Halsall</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Clinical Biochemistry, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Clinical Biochemistry, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Wareham, Nicholas" sort="Wareham, Nicholas" uniqKey="Wareham N" first="Nicholas" last="Wareham">Nicholas Wareham</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">MRC Epidemiology Unit, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>MRC Epidemiology Unit, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Schwabe, John" sort="Schwabe, John" uniqKey="Schwabe J" first="John" last="Schwabe">John Schwabe</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Department of Biochemistry, University of Leicester, Leicester, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Biochemistry, University of Leicester, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Grasso, Lucia" sort="Grasso, Lucia" uniqKey="Grasso L" first="Lucia" last="Grasso">Lucia Grasso</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Endocrinology, University of Pisa, Pisa, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Department of Endocrinology, University of Pisa, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region><settlement type="city">Pise</settlement></placeName><orgName type="university">Université de Pise</orgName></affiliation></author><author><name sortKey="Beck Peccoz, Paolo" sort="Beck Peccoz, Paolo" uniqKey="Beck Peccoz P" first="Paolo" last="Beck-Peccoz">Paolo Beck-Peccoz</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Department of Medical Sciences, Fondazione Policlinico IRCCS, Milan, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Department of Medical Sciences, Fondazione Policlinico IRCCS, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Ogunko, Arthur" sort="Ogunko, Arthur" uniqKey="Ogunko A" first="Arthur" last="Ogunko">Arthur Ogunko</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Darent Valley Hospital, Dartford, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Darent Valley Hospital, Dartford</wicri:regionArea><wicri:noRegion>Dartford</wicri:noRegion></affiliation></author><author><name sortKey="Dattani, Mehul" sort="Dattani, Mehul" uniqKey="Dattani M" first="Mehul" last="Dattani">Mehul Dattani</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Great Ormond Street Children’s Hospital, London, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Children’s Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Gurnell, Mark" sort="Gurnell, Mark" uniqKey="Gurnell M" first="Mark" last="Gurnell">Mark Gurnell</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Medicine, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Chatterjee, Krishna" sort="Chatterjee, Krishna" uniqKey="Chatterjee K" first="Krishna" last="Chatterjee">Krishna Chatterjee</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21084748</idno><idno type="pmc">2993594</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2993594</idno><idno type="RBID">PMC:2993594</idno><idno type="doi">10.1172/JCI43653</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">001932</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001932</idno><idno type="wicri:Area/Pmc/Curation">001791</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001791</idno><idno type="wicri:Area/Pmc/Checkpoint">002520</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002520</idno><idno type="wicri:Area/Ncbi/Merge">000927</idno><idno type="wicri:Area/Ncbi/Curation">000927</idno><idno type="wicri:Area/Ncbi/Checkpoint">000927</idno><idno type="wicri:doubleKey">0021-9738:2010:Schoenmakers E:mutations:in:the</idno><idno type="wicri:Area/Main/Merge">007415</idno><idno type="wicri:Area/Main/Curation">006F15</idno><idno type="wicri:Area/Main/Exploration">006F15</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans</title><author><name sortKey="Schoenmakers, Erik" sort="Schoenmakers, Erik" uniqKey="Schoenmakers E" first="Erik" last="Schoenmakers">Erik Schoenmakers</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Agostini, Maura" sort="Agostini, Maura" uniqKey="Agostini M" first="Maura" last="Agostini">Maura Agostini</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Mitchell, Catherine" sort="Mitchell, Catherine" uniqKey="Mitchell C" first="Catherine" last="Mitchell">Catherine Mitchell</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Schoenmakers, Nadia" sort="Schoenmakers, Nadia" uniqKey="Schoenmakers N" first="Nadia" last="Schoenmakers">Nadia Schoenmakers</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Papp, Laura" sort="Papp, Laura" uniqKey="Papp L" first="Laura" last="Papp">Laura Papp</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Queensland Institute for Medical Research, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Rajanayagam, Odelia" sort="Rajanayagam, Odelia" uniqKey="Rajanayagam O" first="Odelia" last="Rajanayagam">Odelia Rajanayagam</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Padidela, Raja" sort="Padidela, Raja" uniqKey="Padidela R" first="Raja" last="Padidela">Raja Padidela</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Great Ormond Street Children’s Hospital, London, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Children’s Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ceron Gutierrez, Lourdes" sort="Ceron Gutierrez, Lourdes" uniqKey="Ceron Gutierrez L" first="Lourdes" last="Ceron-Gutierrez">Lourdes Ceron-Gutierrez</name><affiliation><nlm:aff wicri:cut=" and" id="JCI43653">Department of Clinical Immunology</nlm:aff></affiliation></author><author><name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Doffinger">Rainer Doffinger</name><affiliation><nlm:aff wicri:cut=" and" id="JCI43653">Department of Clinical Immunology</nlm:aff></affiliation></author><author><name sortKey="Prevosto, Claudia" sort="Prevosto, Claudia" uniqKey="Prevosto C" first="Claudia" last="Prevosto">Claudia Prevosto</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Medicine, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Luan, Jian N" sort="Luan, Jian N" uniqKey="Luan J" first="Jian N" last="Luan">Jian N Luan</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">MRC Epidemiology Unit, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>MRC Epidemiology Unit, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Montano, Sergio" sort="Montano, Sergio" uniqKey="Montano S" first="Sergio" last="Montano">Sergio Montano</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Lu, Jun" sort="Lu, Jun" uniqKey="Lu J" first="Jun" last="Lu">Jun Lu</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Castanet, Mireille" sort="Castanet, Mireille" uniqKey="Castanet M" first="Mireille" last="Castanet">Mireille Castanet</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Clemons, Nick" sort="Clemons, Nick" uniqKey="Clemons N" first="Nick" last="Clemons">Nick Clemons</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">MRC Cancer Cell Unit, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>MRC Cancer Cell Unit, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Groeneveld, Matthijs" sort="Groeneveld, Matthijs" uniqKey="Groeneveld M" first="Matthijs" last="Groeneveld">Matthijs Groeneveld</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Castets, Perrine" sort="Castets, Perrine" uniqKey="Castets P" first="Perrine" last="Castets">Perrine Castets</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">INSERM, UMR S956, Pitié-Salpêtrière Hospital, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>INSERM, UMR S956, Pitié-Salpêtrière Hospital, 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></author><author><name sortKey="Karbaschi, Mahsa" sort="Karbaschi, Mahsa" uniqKey="Karbaschi M" first="Mahsa" last="Karbaschi">Mahsa Karbaschi</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Department of Cancer Studies, Department of Molecular Medicine, and Department of Genetics, University of Leicester, Leicester, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Cancer Studies, Department of Molecular Medicine, and Department of Genetics, University of Leicester, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Aitken, Sri" sort="Aitken, Sri" uniqKey="Aitken S" first="Sri" last="Aitken">Sri Aitken</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Radiology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Radiology, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Dixon, Adrian" sort="Dixon, Adrian" uniqKey="Dixon A" first="Adrian" last="Dixon">Adrian Dixon</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Radiology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Radiology, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Williams, Jane" sort="Williams, Jane" uniqKey="Williams J" first="Jane" last="Williams">Jane Williams</name><affiliation><nlm:aff wicri:cut=" and" id="JCI43653">Childhood Nutrition Research</nlm:aff></affiliation></author><author><name sortKey="Campi, Irene" sort="Campi, Irene" uniqKey="Campi I" first="Irene" last="Campi">Irene Campi</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Blount, Margaret" sort="Blount, Margaret" uniqKey="Blount M" first="Margaret" last="Blount">Margaret Blount</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Burton, Hannah" sort="Burton, Hannah" uniqKey="Burton H" first="Hannah" last="Burton">Hannah Burton</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="O Onovan, Dominic" sort="O Onovan, Dominic" uniqKey="O Onovan D" first="Dominic" last="O Onovan">Dominic O Onovan</name><affiliation><nlm:aff id="JCI43653">Department of Histopathology,</nlm:aff></affiliation></author><author><name sortKey="Dean, Andrew" sort="Dean, Andrew" uniqKey="Dean A" first="Andrew" last="Dean">Andrew Dean</name><affiliation><nlm:aff id="JCI43653">Department of Histopathology,</nlm:aff></affiliation></author><author><name sortKey="Warren, Anne" sort="Warren, Anne" uniqKey="Warren A" first="Anne" last="Warren">Anne Warren</name><affiliation><nlm:aff id="JCI43653">Department of Histopathology,</nlm:aff></affiliation></author><author><name sortKey="Brierley, Charlotte" sort="Brierley, Charlotte" uniqKey="Brierley C" first="Charlotte" last="Brierley">Charlotte Brierley</name><affiliation><nlm:aff id="JCI43653">Department of Neurology,</nlm:aff></affiliation></author><author><name sortKey="Baguley, David" sort="Baguley, David" uniqKey="Baguley D" first="David" last="Baguley">David Baguley</name><affiliation><nlm:aff id="JCI43653">Department of Audiology,</nlm:aff></affiliation></author><author><name sortKey="Guicheney, Pascale" sort="Guicheney, Pascale" uniqKey="Guicheney P" first="Pascale" last="Guicheney">Pascale Guicheney</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">INSERM, UMR S956, Pitié-Salpêtrière Hospital, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>INSERM, UMR S956, Pitié-Salpêtrière Hospital, 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></author><author><name sortKey="Fitzgerald, Rebecca" sort="Fitzgerald, Rebecca" uniqKey="Fitzgerald R" first="Rebecca" last="Fitzgerald">Rebecca Fitzgerald</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">MRC Cancer Cell Unit, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>MRC Cancer Cell Unit, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Coles, Alasdair" sort="Coles, Alasdair" uniqKey="Coles A" first="Alasdair" last="Coles">Alasdair Coles</name><affiliation><nlm:aff id="JCI43653">Department of Clinical Neuroscience,</nlm:aff></affiliation></author><author><name sortKey="Gaston, Hill" sort="Gaston, Hill" uniqKey="Gaston H" first="Hill" last="Gaston">Hill Gaston</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Medicine, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Todd, Pamela" sort="Todd, Pamela" uniqKey="Todd P" first="Pamela" last="Todd">Pamela Todd</name><affiliation><nlm:aff wicri:cut=", and" id="JCI43653">Department of Dermatology</nlm:aff></affiliation></author><author><name sortKey="Holmgren, Arne" sort="Holmgren, Arne" uniqKey="Holmgren A" first="Arne" last="Holmgren">Arne Holmgren</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Medical Nobel Institute for Biochemistry, Karolinska Institute, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Khanna, Kum Kum" sort="Khanna, Kum Kum" uniqKey="Khanna K" first="Kum Kum" last="Khanna">Kum Kum Khanna</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Queensland Institute for Medical Research, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Cooke, Marcus" sort="Cooke, Marcus" uniqKey="Cooke M" first="Marcus" last="Cooke">Marcus Cooke</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Department of Cancer Studies, Department of Molecular Medicine, and Department of Genetics, University of Leicester, Leicester, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Cancer Studies, Department of Molecular Medicine, and Department of Genetics, University of Leicester, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Semple, Robert" sort="Semple, Robert" uniqKey="Semple R" first="Robert" last="Semple">Robert Semple</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Halsall, David" sort="Halsall, David" uniqKey="Halsall D" first="David" last="Halsall">David Halsall</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Clinical Biochemistry, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Clinical Biochemistry, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Wareham, Nicholas" sort="Wareham, Nicholas" uniqKey="Wareham N" first="Nicholas" last="Wareham">Nicholas Wareham</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">MRC Epidemiology Unit, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>MRC Epidemiology Unit, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Schwabe, John" sort="Schwabe, John" uniqKey="Schwabe J" first="John" last="Schwabe">John Schwabe</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Department of Biochemistry, University of Leicester, Leicester, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Biochemistry, University of Leicester, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Grasso, Lucia" sort="Grasso, Lucia" uniqKey="Grasso L" first="Lucia" last="Grasso">Lucia Grasso</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Endocrinology, University of Pisa, Pisa, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Department of Endocrinology, University of Pisa, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region><settlement type="city">Pise</settlement></placeName><orgName type="university">Université de Pise</orgName></affiliation></author><author><name sortKey="Beck Peccoz, Paolo" sort="Beck Peccoz, Paolo" uniqKey="Beck Peccoz P" first="Paolo" last="Beck-Peccoz">Paolo Beck-Peccoz</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Department of Medical Sciences, Fondazione Policlinico IRCCS, Milan, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Department of Medical Sciences, Fondazione Policlinico IRCCS, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Ogunko, Arthur" sort="Ogunko, Arthur" uniqKey="Ogunko A" first="Arthur" last="Ogunko">Arthur Ogunko</name><affiliation wicri:level="1"><nlm:aff id="JCI43653">Darent Valley Hospital, Dartford, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Darent Valley Hospital, Dartford</wicri:regionArea><wicri:noRegion>Dartford</wicri:noRegion></affiliation></author><author><name sortKey="Dattani, Mehul" sort="Dattani, Mehul" uniqKey="Dattani M" first="Mehul" last="Dattani">Mehul Dattani</name><affiliation wicri:level="3"><nlm:aff id="JCI43653">Great Ormond Street Children’s Hospital, London, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Children’s Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Gurnell, Mark" sort="Gurnell, Mark" uniqKey="Gurnell M" first="Mark" last="Gurnell">Mark Gurnell</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI43653">Department of Medicine, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Chatterjee, Krishna" sort="Chatterjee, Krishna" uniqKey="Chatterjee K" first="Krishna" last="Chatterjee">Krishna Chatterjee</name><affiliation wicri:level="4"><nlm:aff id="JCI43653">Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Institute of Metabolic Science, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author></analytic><series><title level="j">The Journal of Clinical Investigation</title><idno type="ISSN">0021-9738</idno><idno type="eISSN">1558-8238</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Selenium, a trace element that is fundamental to human health, is incorporated into some proteins as selenocysteine (Sec), generating a family of selenoproteins. Sec incorporation is mediated by a multiprotein complex that includes Sec insertion sequence–binding protein 2 (SECISBP2; also known as SBP2). Here, we describe subjects with compound heterozygous defects in the <italic>SECISBP2</italic> gene. These individuals have reduced synthesis of most of the 25 known human selenoproteins, resulting in a complex phenotype. Azoospermia, with failure of the latter stages of spermatogenesis, was associated with a lack of testis-enriched selenoproteins. An axial muscular dystrophy was also present, with features similar to myopathies caused by mutations in selenoprotein N (<italic>SEPN1</italic>). Cutaneous deficiencies of antioxidant selenoenzymes, increased cellular ROS, and susceptibility to ultraviolet radiation–induced oxidative damage may mediate the observed photosensitivity. Reduced levels of selenoproteins in peripheral blood cells were associated with impaired T lymphocyte proliferation, abnormal mononuclear cell cytokine secretion, and telomere shortening. Paradoxically, raised ROS in affected subjects was associated with enhanced systemic and cellular insulin sensitivity, similar to findings in mice lacking the antioxidant selenoenzyme glutathione peroxidase 1 (GPx1). Thus, mutation of <italic>SECISBP2</italic> is associated with a multisystem disorder with defective biosynthesis of many selenoproteins, highlighting their role in diverse biological processes.
</p></div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Italie</li><li>Royaume-Uni</li><li>Suède</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Grand Londres</li><li>Lombardie</li><li>Svealand</li><li>Toscane</li><li>Île-de-France</li></region><settlement><li>Cambridge</li><li>Londres</li><li>Milan</li><li>Paris</li><li>Pise</li><li>Stockholm</li></settlement><orgName><li>Université de Cambridge</li><li>Université de Pise</li></orgName></list><tree><noCountry><name sortKey="Baguley, David" sort="Baguley, David" uniqKey="Baguley D" first="David" last="Baguley">David Baguley</name><name sortKey="Brierley, Charlotte" sort="Brierley, Charlotte" uniqKey="Brierley C" first="Charlotte" last="Brierley">Charlotte Brierley</name><name sortKey="Ceron Gutierrez, Lourdes" sort="Ceron Gutierrez, Lourdes" uniqKey="Ceron Gutierrez L" first="Lourdes" last="Ceron-Gutierrez">Lourdes Ceron-Gutierrez</name><name sortKey="Coles, Alasdair" sort="Coles, Alasdair" uniqKey="Coles A" first="Alasdair" last="Coles">Alasdair Coles</name><name sortKey="Dean, Andrew" sort="Dean, Andrew" uniqKey="Dean A" first="Andrew" last="Dean">Andrew Dean</name><name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Doffinger">Rainer Doffinger</name><name sortKey="O Onovan, Dominic" sort="O Onovan, Dominic" uniqKey="O Onovan D" first="Dominic" last="O Onovan">Dominic O Onovan</name><name sortKey="Todd, Pamela" sort="Todd, Pamela" uniqKey="Todd P" first="Pamela" last="Todd">Pamela Todd</name><name sortKey="Warren, Anne" sort="Warren, Anne" uniqKey="Warren A" first="Anne" last="Warren">Anne Warren</name><name sortKey="Williams, Jane" sort="Williams, Jane" uniqKey="Williams J" first="Jane" last="Williams">Jane Williams</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Schoenmakers, Erik" sort="Schoenmakers, Erik" uniqKey="Schoenmakers E" first="Erik" last="Schoenmakers">Erik Schoenmakers</name></region><name sortKey="Agostini, Maura" sort="Agostini, Maura" uniqKey="Agostini M" first="Maura" last="Agostini">Maura Agostini</name><name sortKey="Aitken, Sri" sort="Aitken, Sri" uniqKey="Aitken S" first="Sri" last="Aitken">Sri Aitken</name><name sortKey="Blount, Margaret" sort="Blount, Margaret" uniqKey="Blount M" first="Margaret" last="Blount">Margaret Blount</name><name sortKey="Burton, Hannah" sort="Burton, Hannah" uniqKey="Burton H" first="Hannah" last="Burton">Hannah Burton</name><name sortKey="Campi, Irene" sort="Campi, Irene" uniqKey="Campi I" first="Irene" last="Campi">Irene Campi</name><name sortKey="Castanet, Mireille" sort="Castanet, Mireille" uniqKey="Castanet M" first="Mireille" last="Castanet">Mireille Castanet</name><name sortKey="Chatterjee, Krishna" sort="Chatterjee, Krishna" uniqKey="Chatterjee K" first="Krishna" last="Chatterjee">Krishna Chatterjee</name><name sortKey="Clemons, Nick" sort="Clemons, Nick" uniqKey="Clemons N" first="Nick" last="Clemons">Nick Clemons</name><name sortKey="Cooke, Marcus" sort="Cooke, Marcus" uniqKey="Cooke M" first="Marcus" last="Cooke">Marcus Cooke</name><name sortKey="Dattani, Mehul" sort="Dattani, Mehul" uniqKey="Dattani M" first="Mehul" last="Dattani">Mehul Dattani</name><name sortKey="Dixon, Adrian" sort="Dixon, Adrian" uniqKey="Dixon A" first="Adrian" last="Dixon">Adrian Dixon</name><name sortKey="Fitzgerald, Rebecca" sort="Fitzgerald, Rebecca" uniqKey="Fitzgerald R" first="Rebecca" last="Fitzgerald">Rebecca Fitzgerald</name><name sortKey="Gaston, Hill" sort="Gaston, Hill" uniqKey="Gaston H" first="Hill" last="Gaston">Hill Gaston</name><name sortKey="Groeneveld, Matthijs" sort="Groeneveld, Matthijs" uniqKey="Groeneveld M" first="Matthijs" last="Groeneveld">Matthijs Groeneveld</name><name sortKey="Gurnell, Mark" sort="Gurnell, Mark" uniqKey="Gurnell M" first="Mark" last="Gurnell">Mark Gurnell</name><name sortKey="Gurnell, Mark" sort="Gurnell, Mark" uniqKey="Gurnell M" first="Mark" last="Gurnell">Mark Gurnell</name><name sortKey="Halsall, David" sort="Halsall, David" uniqKey="Halsall D" first="David" last="Halsall">David Halsall</name><name sortKey="Karbaschi, Mahsa" sort="Karbaschi, Mahsa" uniqKey="Karbaschi M" first="Mahsa" last="Karbaschi">Mahsa Karbaschi</name><name sortKey="Luan, Jian N" sort="Luan, Jian N" uniqKey="Luan J" first="Jian N" last="Luan">Jian N Luan</name><name sortKey="Mitchell, Catherine" sort="Mitchell, Catherine" uniqKey="Mitchell C" first="Catherine" last="Mitchell">Catherine Mitchell</name><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><name sortKey="Ogunko, Arthur" sort="Ogunko, Arthur" uniqKey="Ogunko A" first="Arthur" last="Ogunko">Arthur Ogunko</name><name sortKey="Padidela, Raja" sort="Padidela, Raja" uniqKey="Padidela R" first="Raja" last="Padidela">Raja Padidela</name><name sortKey="Prevosto, Claudia" sort="Prevosto, Claudia" uniqKey="Prevosto C" first="Claudia" last="Prevosto">Claudia Prevosto</name><name sortKey="Rajanayagam, Odelia" sort="Rajanayagam, Odelia" uniqKey="Rajanayagam O" first="Odelia" last="Rajanayagam">Odelia Rajanayagam</name><name sortKey="Schoenmakers, Nadia" sort="Schoenmakers, Nadia" uniqKey="Schoenmakers N" first="Nadia" last="Schoenmakers">Nadia Schoenmakers</name><name sortKey="Schwabe, John" sort="Schwabe, John" uniqKey="Schwabe J" first="John" last="Schwabe">John Schwabe</name><name sortKey="Semple, Robert" sort="Semple, Robert" uniqKey="Semple R" first="Robert" last="Semple">Robert Semple</name><name sortKey="Wareham, Nicholas" sort="Wareham, Nicholas" uniqKey="Wareham N" first="Nicholas" last="Wareham">Nicholas Wareham</name></country><country name="Australie"><noRegion><name sortKey="Papp, Laura" sort="Papp, Laura" uniqKey="Papp L" first="Laura" last="Papp">Laura Papp</name></noRegion><name sortKey="Khanna, Kum Kum" sort="Khanna, Kum Kum" uniqKey="Khanna K" first="Kum Kum" last="Khanna">Kum Kum Khanna</name></country><country name="Suède"><region name="Svealand"><name sortKey="Montano, Sergio" sort="Montano, Sergio" uniqKey="Montano S" first="Sergio" last="Montano">Sergio Montano</name></region><name sortKey="Holmgren, Arne" sort="Holmgren, Arne" uniqKey="Holmgren A" first="Arne" last="Holmgren">Arne Holmgren</name><name sortKey="Lu, Jun" sort="Lu, Jun" uniqKey="Lu J" first="Jun" last="Lu">Jun Lu</name></country><country name="France"><region name="Île-de-France"><name sortKey="Castets, Perrine" sort="Castets, Perrine" uniqKey="Castets P" first="Perrine" last="Castets">Perrine Castets</name></region><name sortKey="Guicheney, Pascale" sort="Guicheney, Pascale" uniqKey="Guicheney P" first="Pascale" last="Guicheney">Pascale Guicheney</name></country><country name="Italie"><region name="Toscane"><name sortKey="Grasso, Lucia" sort="Grasso, Lucia" uniqKey="Grasso L" first="Lucia" last="Grasso">Lucia Grasso</name></region><name sortKey="Beck Peccoz, Paolo" sort="Beck Peccoz, Paolo" uniqKey="Beck Peccoz P" first="Paolo" last="Beck-Peccoz">Paolo Beck-Peccoz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006F15 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 006F15 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:2993594
|texte= Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:21084748" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |