AustralieFrV1, Main, Exploration, bibRecord, 00B117

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Identifieur interne : 00B117 ( Main/Exploration ); précédent : 00B116; suivant : 00B118

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Auteurs : Vera M. Kalscheuer [Allemagne] ; Kristine Freude [Allemagne] ; Luciana Musante [Allemagne] ; Lars R. Jensen [Allemagne] ; Helger G. Yntema [Pays-Bas] ; Jozef Gecz [Australie] ; Abdelaziz Sefiani [Maroc] ; Kirsten Hoffmann [Allemagne] ; Bettina Moser [Allemagne] ; Stefan Haas [Allemagne] ; Ulf Gurok [Allemagne] ; Sebastian Haesler [Allemagne] ; Beatriz Aranda [Allemagne] ; Arpik Nshedjan [Allemagne] ; Andreas Tzschach [Allemagne] ; Nils Hartmann [Allemagne] ; Tim-Christoph Roloff [Allemagne] ; Sarah Shoichet [Allemagne] ; Olivier Hagens [Allemagne] ; JIONG TAO [Allemagne] ; Hans Van Bokhoven [Pays-Bas] ; Gillian Turner [Australie] ; Jamel Chelly [France] ; Claude Moraine [France] ; Jean-Pierre Fryns [Belgique] ; Ulrike Nuber [Allemagne] ; Maria Hoeltzenbein [Allemagne] ; Constance Scharff [Allemagne] ; Harry Scherthan [Allemagne] ; Steffen Lenzner [Allemagne] ; Ben C. J. Hamel [Pays-Bas] ; Susann Schweiger [Allemagne] ; Hans-Hilger Ropers [Allemagne]

Source :

Nature genetics [ 1061-4036 ] ; 2003.

RBID : Pascal:04-0060968

Descripteurs français

Pascal (Inist)
- Mutation, Protéine liaison, Homme, Chromosome X, Article synthèse, Arriération mentale, Polyglutamine, Gène PQBP1.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Binding protein, Human, Mental retardation, Mutation, Review, X-Chromosome.

Abstract

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.

Affiliations:

Allemagne, Australie, Belgique, France, Maroc, Pays-Bas
Berlin, Centre-Val de Loire, Gueldre, Rabat-Salé-Kénitra, Région Centre, Île-de-France
Berlin, Nimègue, Paris, Rabat, Tours

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

to stream PascalFrancis, to step Corpus: 005073
to stream PascalFrancis, to step Curation: 001041
to stream PascalFrancis, to step Checkpoint: 004E91
to stream Main, to step Merge: 00BE76
to stream Main, to step Curation: 00B117

Le document en format XML

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<author><name sortKey="Jiong Tao" sort="Jiong Tao" uniqKey="Jiong Tao" last="Jiong Tao">JIONG TAO</name>
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<country>Allemagne</country>
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<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
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<author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
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<country>Australie</country>
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<country>France</country>
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<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
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<country>France</country>
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<country>Belgique</country>
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<author><name sortKey="Nuber, Ulrike" sort="Nuber, Ulrike" uniqKey="Nuber U" first="Ulrike" last="Nuber">Ulrike Nuber</name>
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<author><name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name>
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<s2>14195 Berlin</s2>
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<country>Allemagne</country>
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<author><name sortKey="Scharff, Constance" sort="Scharff, Constance" uniqKey="Scharff C" first="Constance" last="Scharff">Constance Scharff</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
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<author><name sortKey="Scherthan, Harry" sort="Scherthan, Harry" uniqKey="Scherthan H" first="Harry" last="Scherthan">Harry Scherthan</name>
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<s2>14195 Berlin</s2>
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<country>Allemagne</country>
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<author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name>
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<s2>14195 Berlin</s2>
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<country>Allemagne</country>
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<author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Human Genetics, University Medical Centre</s1>
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<author><name sortKey="Schweiger, Susann" sort="Schweiger, Susann" uniqKey="Schweiger S" first="Susann" last="Schweiger">Susann Schweiger</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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</author>
<author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation</title>
<author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name>
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</author>
<author><name sortKey="Freude, Kristine" sort="Freude, Kristine" uniqKey="Freude K" first="Kristine" last="Freude">Kristine Freude</name>
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<country>Allemagne</country>
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</author>
<author><name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name>
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<country>Allemagne</country>
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</author>
<author><name sortKey="Jensen, Lars R" sort="Jensen, Lars R" uniqKey="Jensen L" first="Lars R." last="Jensen">Lars R. Jensen</name>
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<s2>14195 Berlin</s2>
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<country>Allemagne</country>
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<author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Human Genetics, University Medical Centre</s1>
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<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
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<country>Australie</country>
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<author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name>
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<country>Maroc</country>
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</author>
<author><name sortKey="Hoffmann, Kirsten" sort="Hoffmann, Kirsten" uniqKey="Hoffmann K" first="Kirsten" last="Hoffmann">Kirsten Hoffmann</name>
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<author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name>
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<author><name sortKey="Gurok, Ulf" sort="Gurok, Ulf" uniqKey="Gurok U" first="Ulf" last="Gurok">Ulf Gurok</name>
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<country>Allemagne</country>
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<author><name sortKey="Haesler, Sebastian" sort="Haesler, Sebastian" uniqKey="Haesler S" first="Sebastian" last="Haesler">Sebastian Haesler</name>
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<country>Allemagne</country>
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<author><name sortKey="Aranda, Beatriz" sort="Aranda, Beatriz" uniqKey="Aranda B" first="Beatriz" last="Aranda">Beatriz Aranda</name>
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<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<author><name sortKey="Nshedjan, Arpik" sort="Nshedjan, Arpik" uniqKey="Nshedjan A" first="Arpik" last="Nshedjan">Arpik Nshedjan</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<author><name sortKey="Hartmann, Nils" sort="Hartmann, Nils" uniqKey="Hartmann N" first="Nils" last="Hartmann">Nils Hartmann</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<author><name sortKey="Roloff, Tim Christoph" sort="Roloff, Tim Christoph" uniqKey="Roloff T" first="Tim-Christoph" last="Roloff">Tim-Christoph Roloff</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<settlement type="city">Berlin</settlement>
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<author><name sortKey="Shoichet, Sarah" sort="Shoichet, Sarah" uniqKey="Shoichet S" first="Sarah" last="Shoichet">Sarah Shoichet</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<settlement type="city">Berlin</settlement>
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</affiliation>
</author>
<author><name sortKey="Hagens, Olivier" sort="Hagens, Olivier" uniqKey="Hagens O" first="Olivier" last="Hagens">Olivier Hagens</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Jiong Tao" sort="Jiong Tao" uniqKey="Jiong Tao" last="Jiong Tao">JIONG TAO</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
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<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
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<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Human Genetics, University Medical Centre</s1>
<s2>Nijmegen</s2>
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<sZ>5 aut.</sZ>
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<country>Pays-Bas</country>
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<author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
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<sZ>22 aut.</sZ>
</inist:fA14>
<country>Australie</country>
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</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
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<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75014 Paris</wicri:noRegion>
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</affiliation>
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<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
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<sZ>24 aut.</sZ>
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<country>France</country>
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</author>
<author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Center for Human Genetics, Clinical Genetics Unit</s1>
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<s3>BEL</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>Leuven</wicri:noRegion>
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</author>
<author><name sortKey="Nuber, Ulrike" sort="Nuber, Ulrike" uniqKey="Nuber U" first="Ulrike" last="Nuber">Ulrike Nuber</name>
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<s3>DEU</s3>
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<country>Allemagne</country>
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<author><name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name>
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<s2>14195 Berlin</s2>
<s3>DEU</s3>
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</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
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<author><name sortKey="Scharff, Constance" sort="Scharff, Constance" uniqKey="Scharff C" first="Constance" last="Scharff">Constance Scharff</name>
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<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<author><name sortKey="Scherthan, Harry" sort="Scherthan, Harry" uniqKey="Scherthan H" first="Harry" last="Scherthan">Harry Scherthan</name>
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<s3>DEU</s3>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
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</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
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<author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name>
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<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
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</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
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<author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Human Genetics, University Medical Centre</s1>
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<country>Pays-Bas</country>
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<author><name sortKey="Schweiger, Susann" sort="Schweiger, Susann" uniqKey="Schweiger S" first="Susann" last="Schweiger">Susann Schweiger</name>
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<s3>DEU</s3>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Binding protein</term>
<term>Human</term>
<term>Mental retardation</term>
<term>Mutation</term>
<term>Review</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Protéine liaison</term>
<term>Homme</term>
<term>Chromosome X</term>
<term>Article synthèse</term>
<term>Arriération mentale</term>
<term>Polyglutamine</term>
<term>Gène PQBP1</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Maroc</li>
<li>Pays-Bas</li>
</country>
<region><li>Berlin</li>
<li>Centre-Val de Loire</li>
<li>Gueldre</li>
<li>Rabat-Salé-Kénitra</li>
<li>Région Centre</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Rabat</li>
<li>Tours</li>
</settlement>
</list>
<tree><country name="Allemagne"><region name="Berlin"><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name>
</region>
<name sortKey="Aranda, Beatriz" sort="Aranda, Beatriz" uniqKey="Aranda B" first="Beatriz" last="Aranda">Beatriz Aranda</name>
<name sortKey="Freude, Kristine" sort="Freude, Kristine" uniqKey="Freude K" first="Kristine" last="Freude">Kristine Freude</name>
<name sortKey="Gurok, Ulf" sort="Gurok, Ulf" uniqKey="Gurok U" first="Ulf" last="Gurok">Ulf Gurok</name>
<name sortKey="Haas, Stefan" sort="Haas, Stefan" uniqKey="Haas S" first="Stefan" last="Haas">Stefan Haas</name>
<name sortKey="Haesler, Sebastian" sort="Haesler, Sebastian" uniqKey="Haesler S" first="Sebastian" last="Haesler">Sebastian Haesler</name>
<name sortKey="Hagens, Olivier" sort="Hagens, Olivier" uniqKey="Hagens O" first="Olivier" last="Hagens">Olivier Hagens</name>
<name sortKey="Hartmann, Nils" sort="Hartmann, Nils" uniqKey="Hartmann N" first="Nils" last="Hartmann">Nils Hartmann</name>
<name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name>
<name sortKey="Hoffmann, Kirsten" sort="Hoffmann, Kirsten" uniqKey="Hoffmann K" first="Kirsten" last="Hoffmann">Kirsten Hoffmann</name>
<name sortKey="Jensen, Lars R" sort="Jensen, Lars R" uniqKey="Jensen L" first="Lars R." last="Jensen">Lars R. Jensen</name>
<name sortKey="Jiong Tao" sort="Jiong Tao" uniqKey="Jiong Tao" last="Jiong Tao">JIONG TAO</name>
<name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name>
<name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name>
<name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name>
<name sortKey="Nshedjan, Arpik" sort="Nshedjan, Arpik" uniqKey="Nshedjan A" first="Arpik" last="Nshedjan">Arpik Nshedjan</name>
<name sortKey="Nuber, Ulrike" sort="Nuber, Ulrike" uniqKey="Nuber U" first="Ulrike" last="Nuber">Ulrike Nuber</name>
<name sortKey="Roloff, Tim Christoph" sort="Roloff, Tim Christoph" uniqKey="Roloff T" first="Tim-Christoph" last="Roloff">Tim-Christoph Roloff</name>
<name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
<name sortKey="Scharff, Constance" sort="Scharff, Constance" uniqKey="Scharff C" first="Constance" last="Scharff">Constance Scharff</name>
<name sortKey="Scherthan, Harry" sort="Scherthan, Harry" uniqKey="Scherthan H" first="Harry" last="Scherthan">Harry Scherthan</name>
<name sortKey="Schweiger, Susann" sort="Schweiger, Susann" uniqKey="Schweiger S" first="Susann" last="Schweiger">Susann Schweiger</name>
<name sortKey="Shoichet, Sarah" sort="Shoichet, Sarah" uniqKey="Shoichet S" first="Sarah" last="Shoichet">Sarah Shoichet</name>
<name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name>
</region>
<name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name>
<name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
</country>
<country name="Australie"><noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
</noRegion>
<name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
</country>
<country name="Maroc"><region name="Rabat-Salé-Kénitra"><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name>
</region>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
</region>
<name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
</country>
<country name="Belgique"><noRegion><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

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