The c.‐237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia
Identifieur interne : 001336 ( Main/Exploration ); précédent : 001335; suivant : 001337The c.‐237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia
Auteurs : Jianfeng Xiao [États-Unis] ; Yu Zhao [États-Unis] ; Robert W. Bastian [États-Unis] ; Joel S. Perlmutter [États-Unis] ; Brad A. Racette [États-Unis] ; Samer D. Tabbal [États-Unis] ; Morvarid Karimi [États-Unis] ; Randal C. Paniello [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Ryan J. Uitti [États-Unis] ; Jay A. Van Gerpen [États-Unis] ; David K. Simon [États-Unis] ; Daniel Tarsy [États-Unis] ; Peter Hedera [États-Unis] ; Daniel D. Truong [États-Unis] ; Karen P. Frei [États-Unis] ; Andrew Blitzer [États-Unis] ; Monika Rudzi Ska [Pologne] ; Ronald F. Pfeiffer [États-Unis] ; Carrie Le [États-Unis] ; Mark S. Ledoux [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-02-15.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Apoptosis Regulatory Proteins (genetics), Base Sequence, Child, DNA-Binding Proteins (genetics), DYT6, Dystonic Disorders (etiology), Dystonic Disorders (genetics), European Continental Ancestry Group (genetics), Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Mutation (genetics), Nuclear Proteins (genetics), THAP1, Untranslated Regions (genetics), Young Adult, dystonia, high‐resolution melting, untranslated region.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins, Untranslated Regions.
- etiology : Dystonic Disorders.
- genetics : Dystonic Disorders, European Continental Ancestry Group, Mutation.
- Adolescent, Adult, Aged, Aged, 80 and over, Base Sequence, Child, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Young Adult.
Abstract
Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia. Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1 (c.‐237_236GA>TT). Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein. Discussion: Our findings indicate that the c.‐237_236GA>TT THAP1 sequence variant does not increase risk for adult‐onset primary dystonia in Caucasians. © 2011 Movement Disorder Society
Url:
- https://api.istex.fr/document/FE564DC4DBD2F6D6E6EC595946430FBB3888B492/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171986
DOI: 10.1002/mds.23551
Affiliations:
- Pologne, États-Unis
- Californie, Floride, Illinois, Massachusetts, Missouri (État), Tennessee, État de New York
- Saint-Louis (Missouri)
- École de médecine (Université Washington de Saint-Louis)
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001289
- to stream Istex, to step Curation: 001289
- to stream Istex, to step Checkpoint: 000068
- to stream Pmc, to step Corpus: 000127
- to stream Pmc, to step Curation: 000127
- to stream Pmc, to step Checkpoint: 000222
- to stream PubMed, to step Corpus: 001419
- to stream PubMed, to step Curation: 001419
- to stream PubMed, to step Checkpoint: 001050
- to stream Ncbi, to step Merge: 003004
- to stream Ncbi, to step Curation: 003004
- to stream Ncbi, to step Checkpoint: 003004
- to stream Main, to step Merge: 001389
- to stream Main, to step Curation: 001336
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">The c.‐237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia</title>
<author><name sortKey="Xiao, Jianfeng" sort="Xiao, Jianfeng" uniqKey="Xiao J" first="Jianfeng" last="Xiao">Jianfeng Xiao</name>
</author>
<author><name sortKey="Zhao, Yu" sort="Zhao, Yu" uniqKey="Zhao Y" first="Yu" last="Zhao">Yu Zhao</name>
</author>
<author><name sortKey="Bastian, Robert W" sort="Bastian, Robert W" uniqKey="Bastian R" first="Robert W." last="Bastian">Robert W. Bastian</name>
</author>
<author><name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
</author>
<author><name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A." last="Racette">Brad A. Racette</name>
</author>
<author><name sortKey="Tabbal, Samer D" sort="Tabbal, Samer D" uniqKey="Tabbal S" first="Samer D." last="Tabbal">Samer D. Tabbal</name>
</author>
<author><name sortKey="Karimi, Morvarid" sort="Karimi, Morvarid" uniqKey="Karimi M" first="Morvarid" last="Karimi">Morvarid Karimi</name>
</author>
<author><name sortKey="Paniello, Randal C" sort="Paniello, Randal C" uniqKey="Paniello R" first="Randal C." last="Paniello">Randal C. Paniello</name>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</author>
<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
</author>
<author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
</author>
<author><name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name>
</author>
<author><name sortKey="Tarsy, Daniel" sort="Tarsy, Daniel" uniqKey="Tarsy D" first="Daniel" last="Tarsy">Daniel Tarsy</name>
</author>
<author><name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name>
</author>
<author><name sortKey="Truong, Daniel D" sort="Truong, Daniel D" uniqKey="Truong D" first="Daniel D." last="Truong">Daniel D. Truong</name>
</author>
<author><name sortKey="Frei, Karen P" sort="Frei, Karen P" uniqKey="Frei K" first="Karen P." last="Frei">Karen P. Frei</name>
</author>
<author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
</author>
<author><name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name>
</author>
<author><name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
</author>
<author><name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:FE564DC4DBD2F6D6E6EC595946430FBB3888B492</idno>
<date when="2011" year="2011">2011</date>
<idno type="doi">10.1002/mds.23551</idno>
<idno type="url">https://api.istex.fr/document/FE564DC4DBD2F6D6E6EC595946430FBB3888B492/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001289</idno>
<idno type="wicri:Area/Istex/Curation">001289</idno>
<idno type="wicri:Area/Istex/Checkpoint">000068</idno>
<idno type="wicri:doubleKey">0885-3185:2011:Xiao J:the:c:ga</idno>
<idno type="wicri:source">PMC</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171986</idno>
<idno type="RBID">PMC:3171986</idno>
<idno type="wicri:Area/Pmc/Corpus">000127</idno>
<idno type="wicri:Area/Pmc/Curation">000127</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000222</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001419</idno>
<idno type="wicri:Area/PubMed/Curation">001419</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001050</idno>
<idno type="wicri:Area/Ncbi/Merge">003004</idno>
<idno type="wicri:Area/Ncbi/Curation">003004</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003004</idno>
<idno type="wicri:doubleKey">0885-3185:2011:Xiao J:the:c:ga</idno>
<idno type="wicri:Area/Main/Merge">001389</idno>
<idno type="wicri:Area/Main/Curation">001336</idno>
<idno type="wicri:Area/Main/Exploration">001336</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The c.‐237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia</title>
<author><name sortKey="Xiao, Jianfeng" sort="Xiao, Jianfeng" uniqKey="Xiao J" first="Jianfeng" last="Xiao">Jianfeng Xiao</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhao, Yu" sort="Zhao, Yu" uniqKey="Zhao Y" first="Yu" last="Zhao">Yu Zhao</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bastian, Robert W" sort="Bastian, Robert W" uniqKey="Bastian R" first="Robert W." last="Bastian">Robert W. Bastian</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Bastian Voice Institute, Downers Grove, Illinois</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Radiology, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurobiology, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Physical Therapy, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Occupational therapy, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A." last="Racette">Brad A. Racette</name>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Tabbal, Samer D" sort="Tabbal, Samer D" uniqKey="Tabbal S" first="Samer D." last="Tabbal">Samer D. Tabbal</name>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Karimi, Morvarid" sort="Karimi, Morvarid" uniqKey="Karimi M" first="Morvarid" last="Karimi">Morvarid Karimi</name>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Paniello, Randal C" sort="Paniello, Randal C" uniqKey="Paniello R" first="Randal C." last="Paniello">Randal C. Paniello</name>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Otolaryngology‐Head and Neck Surgery, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tarsy, Daniel" sort="Tarsy, Daniel" uniqKey="Tarsy D" first="Daniel" last="Tarsy">Daniel Tarsy</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Vanderbilt University, Nashville, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Truong, Daniel D" sort="Truong, Daniel D" uniqKey="Truong D" first="Daniel D." last="Truong">Daniel D. Truong</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Parkinson's & Movement Disorder Institute, Fountain Valley, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Frei, Karen P" sort="Frei, Karen P" uniqKey="Frei K" first="Karen P." last="Frei">Karen P. Frei</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Parkinson's & Movement Disorder Institute, Fountain Valley, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>New York Center for Voice and Swallowing Disorders, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Jagiellonian University Medical College in Krakow, Kraków</wicri:regionArea>
<wicri:noRegion>Kraków</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee</wicri:regionArea>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2011-02-15">2011-02-15</date>
<biblScope unit="vol">26</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="549">549</biblScope>
<biblScope unit="page" to="553">553</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">FE564DC4DBD2F6D6E6EC595946430FBB3888B492</idno>
<idno type="DOI">10.1002/mds.23551</idno>
<idno type="ArticleID">MDS23551</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>Base Sequence</term>
<term>Child</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>DYT6</term>
<term>Dystonic Disorders (etiology)</term>
<term>Dystonic Disorders (genetics)</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>THAP1</term>
<term>Untranslated Regions (genetics)</term>
<term>Young Adult</term>
<term>dystonia</term>
<term>high‐resolution melting</term>
<term>untranslated region</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
<term>Untranslated Regions</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>European Continental Ancestry Group</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Base Sequence</term>
<term>Child</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Young Adult</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia. Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1 (c.‐237_236GA>TT). Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein. Discussion: Our findings indicate that the c.‐237_236GA>TT THAP1 sequence variant does not increase risk for adult‐onset primary dystonia in Caucasians. © 2011 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Pologne</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Floride</li>
<li>Illinois</li>
<li>Massachusetts</li>
<li>Missouri (État)</li>
<li>Tennessee</li>
<li>État de New York</li>
</region>
<settlement><li>Saint-Louis (Missouri)</li>
</settlement>
<orgName><li>École de médecine (Université Washington de Saint-Louis)</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Tennessee"><name sortKey="Xiao, Jianfeng" sort="Xiao, Jianfeng" uniqKey="Xiao J" first="Jianfeng" last="Xiao">Jianfeng Xiao</name>
</region>
<name sortKey="Bastian, Robert W" sort="Bastian, Robert W" uniqKey="Bastian R" first="Robert W." last="Bastian">Robert W. Bastian</name>
<name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
<name sortKey="Frei, Karen P" sort="Frei, Karen P" uniqKey="Frei K" first="Karen P." last="Frei">Karen P. Frei</name>
<name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name>
<name sortKey="Karimi, Morvarid" sort="Karimi, Morvarid" uniqKey="Karimi M" first="Morvarid" last="Karimi">Morvarid Karimi</name>
<name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
<name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
<name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<name sortKey="Paniello, Randal C" sort="Paniello, Randal C" uniqKey="Paniello R" first="Randal C." last="Paniello">Randal C. Paniello</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A." last="Racette">Brad A. Racette</name>
<name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name>
<name sortKey="Tabbal, Samer D" sort="Tabbal, Samer D" uniqKey="Tabbal S" first="Samer D." last="Tabbal">Samer D. Tabbal</name>
<name sortKey="Tarsy, Daniel" sort="Tarsy, Daniel" uniqKey="Tarsy D" first="Daniel" last="Tarsy">Daniel Tarsy</name>
<name sortKey="Truong, Daniel D" sort="Truong, Daniel D" uniqKey="Truong D" first="Daniel D." last="Truong">Daniel D. Truong</name>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<name sortKey="Xiao, Jianfeng" sort="Xiao, Jianfeng" uniqKey="Xiao J" first="Jianfeng" last="Xiao">Jianfeng Xiao</name>
<name sortKey="Zhao, Yu" sort="Zhao, Yu" uniqKey="Zhao Y" first="Yu" last="Zhao">Yu Zhao</name>
<name sortKey="Zhao, Yu" sort="Zhao, Yu" uniqKey="Zhao Y" first="Yu" last="Zhao">Yu Zhao</name>
</country>
<country name="Pologne"><noRegion><name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001336 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001336 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:FE564DC4DBD2F6D6E6EC595946430FBB3888B492 |texte= The c.‐237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia }}
This area was generated with Dilib version V0.6.23. |