Jump from Pre-mutation to Pathologic Expansion in C9orf72
Identifieur interne : 000668 ( Main/Exploration ); précédent : 000667; suivant : 000669Jump from Pre-mutation to Pathologic Expansion in C9orf72
Auteurs : Zhengrui Xi [Canada] ; Marka Van Blitterswijk [États-Unis] ; Ming Zhang [Canada] ; Philip Mcgoldrick [Canada] ; Jesse R. Mclean [Canada] ; Yana Yunusova [Canada] ; Erin Knock [Canada] ; Danielle Moreno [Canada] ; Christine Sato [Canada] ; Paul M. Mckeever [Canada] ; Raphael Schneider [Canada] ; Julia Keith [Canada] ; Nicolae Petrescu [Canada] ; Paul Fraser [Canada] ; Maria Carmela Tartaglia [Canada] ; Matthew C. Baker [États-Unis] ; Neill R. Graff-Radford [États-Unis] ; Kevin B. Boylan [États-Unis] ; Dennis W. Dickson [États-Unis] ; Ian R. Mackenzie [Canada] ; Rosa Rademakers [États-Unis] ; Janice Robertson [Canada] ; Lorne Zinman [Canada] ; Ekaterina Rogaeva [Canada]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2015.
Abstract
An expanded G4C2 repeat in
Url:
DOI: 10.1016/j.ajhg.2015.04.016
PubMed: 26004200
PubMed Central: 4457950
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000355
- to stream Pmc, to step Curation: 000355
- to stream Pmc, to step Checkpoint: 000275
- to stream Ncbi, to step Merge: 001B80
- to stream Ncbi, to step Curation: 001B80
- to stream Ncbi, to step Checkpoint: 001B80
- to stream Main, to step Merge: 000669
- to stream Main, to step Curation: 000668
Le document en format XML
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<author><name sortKey="Robertson, Janice" sort="Robertson, Janice" uniqKey="Robertson J" first="Janice" last="Robertson">Janice Robertson</name>
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<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Jump from Pre-mutation to Pathologic Expansion in <italic>C9orf72</italic>
</title>
<author><name sortKey="Xi, Zhengrui" sort="Xi, Zhengrui" uniqKey="Xi Z" first="Zhengrui" last="Xi">Zhengrui Xi</name>
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<author><name sortKey="Van Blitterswijk, Marka" sort="Van Blitterswijk, Marka" uniqKey="Van Blitterswijk M" first="Marka" last="Van Blitterswijk">Marka Van Blitterswijk</name>
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</author>
<author><name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcgoldrick, Philip" sort="Mcgoldrick, Philip" uniqKey="Mcgoldrick P" first="Philip" last="Mcgoldrick">Philip Mcgoldrick</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mclean, Jesse R" sort="Mclean, Jesse R" uniqKey="Mclean J" first="Jesse R." last="Mclean">Jesse R. Mclean</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yunusova, Yana" sort="Yunusova, Yana" uniqKey="Yunusova Y" first="Yana" last="Yunusova">Yana Yunusova</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON M4N 3M5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON M4N 3M5</wicri:regionArea>
<wicri:noRegion>ON M4N 3M5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff4">Department of Speech Language Pathology, University of Toronto, 500 University Avenue, Toronto, ON M5G 1V7, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Speech Language Pathology, University of Toronto, 500 University Avenue, Toronto, ON M5G 1V7</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Knock, Erin" sort="Knock, Erin" uniqKey="Knock E" first="Erin" last="Knock">Erin Knock</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mckeever, Paul M" sort="Mckeever, Paul M" uniqKey="Mckeever P" first="Paul M." last="Mckeever">Paul M. Mckeever</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff5">Department of Laboratory Medicine and Pathobiology, University of Toronto, 27 King’s College Circle, Toronto, ON M5S 1A1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathobiology, University of Toronto, 27 King’s College Circle, Toronto, ON M5S 1A1</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schneider, Raphael" sort="Schneider, Raphael" uniqKey="Schneider R" first="Raphael" last="Schneider">Raphael Schneider</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff5">Department of Laboratory Medicine and Pathobiology, University of Toronto, 27 King’s College Circle, Toronto, ON M5S 1A1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathobiology, University of Toronto, 27 King’s College Circle, Toronto, ON M5S 1A1</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Keith, Julia" sort="Keith, Julia" uniqKey="Keith J" first="Julia" last="Keith">Julia Keith</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON M4N 3M5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON M4N 3M5</wicri:regionArea>
<wicri:noRegion>ON M4N 3M5</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Petrescu, Nicolae" sort="Petrescu, Nicolae" uniqKey="Petrescu N" first="Nicolae" last="Petrescu">Nicolae Petrescu</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON M4N 3M5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON M4N 3M5</wicri:regionArea>
<wicri:noRegion>ON M4N 3M5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff6">Division of Neurology, Department of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, Department of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fraser, Paul" sort="Fraser, Paul" uniqKey="Fraser P" first="Paul" last="Fraser">Paul Fraser</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tartaglia, Maria Carmela" sort="Tartaglia, Maria Carmela" uniqKey="Tartaglia M" first="Maria Carmela" last="Tartaglia">Maria Carmela Tartaglia</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff6">Division of Neurology, Department of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, Department of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Baker, Matthew C" sort="Baker, Matthew C" uniqKey="Baker M" first="Matthew C." last="Baker">Matthew C. Baker</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</wicri:regionArea>
<wicri:noRegion>FL 32224</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</wicri:regionArea>
<wicri:noRegion>FL 32224</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boylan, Kevin B" sort="Boylan, Kevin B" uniqKey="Boylan K" first="Kevin B." last="Boylan">Kevin B. Boylan</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</wicri:regionArea>
<wicri:noRegion>FL 32224</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</wicri:regionArea>
<wicri:noRegion>FL 32224</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R." last="Mackenzie">Ian R. Mackenzie</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Department of Pathology and Laboratory Medicine, University of British Columbia, 2329 West Mall, Vancouver, BC V6T 1Z4, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pathology and Laboratory Medicine, University of British Columbia, 2329 West Mall, Vancouver, BC V6T 1Z4</wicri:regionArea>
<wicri:noRegion>BC V6T 1Z4</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</wicri:regionArea>
<wicri:noRegion>FL 32224</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Robertson, Janice" sort="Robertson, Janice" uniqKey="Robertson J" first="Janice" last="Robertson">Janice Robertson</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff5">Department of Laboratory Medicine and Pathobiology, University of Toronto, 27 King’s College Circle, Toronto, ON M5S 1A1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathobiology, University of Toronto, 27 King’s College Circle, Toronto, ON M5S 1A1</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zinman, Lorne" sort="Zinman, Lorne" uniqKey="Zinman L" first="Lorne" last="Zinman">Lorne Zinman</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON M4N 3M5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON M4N 3M5</wicri:regionArea>
<wicri:noRegion>ON M4N 3M5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff6">Division of Neurology, Department of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, Department of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, ON M5T 2S8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff6">Division of Neurology, Department of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, Department of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>An expanded G<sub>4</sub>
C<sub>2</sub>
repeat in <italic>C9orf72</italic>
represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the lower limit for pathological expansions is unknown (the suggested cutoff is 30 repeats). It has been proposed that the expansion might have occurred only once in human history and subsequently spread throughout the population. However, our present findings support a hypothesis of multiple origins for the expansion. We report a British-Canadian family in whom a ∼70-repeat allele from the father (unaffected by ALS or FTLD at age 89 years) expanded during parent-offspring transmission and started the first generation affected by ALS (four children carry an ∼1,750-repeat allele). Epigenetic and RNA-expression analyses further discriminated the offspring’s large expansions (which were methylated and associated with reduced <italic>C9orf72</italic>
expression) from the ∼70-repeat allele (which was unmethylated and associated with upregulation of <italic>C9orf72</italic>
). Moreover, RNA foci were only detected in fibroblasts from offspring with large expansions, but not in the father, who has the ∼70-repeat allele. All family members with expansions were found to have an ancient known risk haplotype, although it was inherited on a unique 5-Mb genetic backbone. We conclude that small expansions (e.g., 70 repeats) might be considered “pre-mutations” to reflect their propensity to expand in the next generation. Follow-up studies might help explain the high frequency of ALS- or FTLD-affected individuals with an expansion but without a familial history (e.g., 21% among Finnish ALS subjects).</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>États-Unis</li>
</country>
<region><li>Ontario</li>
</region>
<settlement><li>Toronto</li>
</settlement>
<orgName><li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Canada"><region name="Ontario"><name sortKey="Xi, Zhengrui" sort="Xi, Zhengrui" uniqKey="Xi Z" first="Zhengrui" last="Xi">Zhengrui Xi</name>
</region>
<name sortKey="Fraser, Paul" sort="Fraser, Paul" uniqKey="Fraser P" first="Paul" last="Fraser">Paul Fraser</name>
<name sortKey="Keith, Julia" sort="Keith, Julia" uniqKey="Keith J" first="Julia" last="Keith">Julia Keith</name>
<name sortKey="Knock, Erin" sort="Knock, Erin" uniqKey="Knock E" first="Erin" last="Knock">Erin Knock</name>
<name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R." last="Mackenzie">Ian R. Mackenzie</name>
<name sortKey="Mcgoldrick, Philip" sort="Mcgoldrick, Philip" uniqKey="Mcgoldrick P" first="Philip" last="Mcgoldrick">Philip Mcgoldrick</name>
<name sortKey="Mckeever, Paul M" sort="Mckeever, Paul M" uniqKey="Mckeever P" first="Paul M." last="Mckeever">Paul M. Mckeever</name>
<name sortKey="Mckeever, Paul M" sort="Mckeever, Paul M" uniqKey="Mckeever P" first="Paul M." last="Mckeever">Paul M. Mckeever</name>
<name sortKey="Mclean, Jesse R" sort="Mclean, Jesse R" uniqKey="Mclean J" first="Jesse R." last="Mclean">Jesse R. Mclean</name>
<name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name>
<name sortKey="Petrescu, Nicolae" sort="Petrescu, Nicolae" uniqKey="Petrescu N" first="Nicolae" last="Petrescu">Nicolae Petrescu</name>
<name sortKey="Petrescu, Nicolae" sort="Petrescu, Nicolae" uniqKey="Petrescu N" first="Nicolae" last="Petrescu">Nicolae Petrescu</name>
<name sortKey="Robertson, Janice" sort="Robertson, Janice" uniqKey="Robertson J" first="Janice" last="Robertson">Janice Robertson</name>
<name sortKey="Robertson, Janice" sort="Robertson, Janice" uniqKey="Robertson J" first="Janice" last="Robertson">Janice Robertson</name>
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
<name sortKey="Schneider, Raphael" sort="Schneider, Raphael" uniqKey="Schneider R" first="Raphael" last="Schneider">Raphael Schneider</name>
<name sortKey="Schneider, Raphael" sort="Schneider, Raphael" uniqKey="Schneider R" first="Raphael" last="Schneider">Raphael Schneider</name>
<name sortKey="Tartaglia, Maria Carmela" sort="Tartaglia, Maria Carmela" uniqKey="Tartaglia M" first="Maria Carmela" last="Tartaglia">Maria Carmela Tartaglia</name>
<name sortKey="Tartaglia, Maria Carmela" sort="Tartaglia, Maria Carmela" uniqKey="Tartaglia M" first="Maria Carmela" last="Tartaglia">Maria Carmela Tartaglia</name>
<name sortKey="Yunusova, Yana" sort="Yunusova, Yana" uniqKey="Yunusova Y" first="Yana" last="Yunusova">Yana Yunusova</name>
<name sortKey="Yunusova, Yana" sort="Yunusova, Yana" uniqKey="Yunusova Y" first="Yana" last="Yunusova">Yana Yunusova</name>
<name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name>
<name sortKey="Zinman, Lorne" sort="Zinman, Lorne" uniqKey="Zinman L" first="Lorne" last="Zinman">Lorne Zinman</name>
<name sortKey="Zinman, Lorne" sort="Zinman, Lorne" uniqKey="Zinman L" first="Lorne" last="Zinman">Lorne Zinman</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Van Blitterswijk, Marka" sort="Van Blitterswijk, Marka" uniqKey="Van Blitterswijk M" first="Marka" last="Van Blitterswijk">Marka Van Blitterswijk</name>
</noRegion>
<name sortKey="Baker, Matthew C" sort="Baker, Matthew C" uniqKey="Baker M" first="Matthew C." last="Baker">Matthew C. Baker</name>
<name sortKey="Boylan, Kevin B" sort="Boylan, Kevin B" uniqKey="Boylan K" first="Kevin B." last="Boylan">Kevin B. Boylan</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000668 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000668 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Canada |area= ParkinsonCanadaV1 |flux= Main |étape= Exploration |type= RBID |clé= PMC:4457950 |texte= Jump from Pre-mutation to Pathologic Expansion in C9orf72 }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:26004200" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a ParkinsonCanadaV1
This area was generated with Dilib version V0.6.29. |