Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
Identifieur interne : 000627 ( Main/Exploration ); précédent : 000626; suivant : 000628Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
Auteurs : Fu-Bo Cheng [République populaire de Chine] ; Jia-Chun Feng ; Ling-Yan Ma ; Jing Miao ; Thomas Ott ; Xin-Hua Wan ; Kathrin GrundmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Adult, Apoptosis Regulatory Proteins (genetics), Apoptosis Regulatory Proteins (metabolism), Asian Continental Ancestry Group, Aspartic Acid (genetics), Cell Line, Tumor, Cohort Studies, DNA Mutational Analysis, DNA-Binding Proteins (genetics), DNA-Binding Proteins (metabolism), Dystonic Disorders (genetics), Female, Genetic Predisposition to Disease (genetics), Genotype, HEK293 Cells, Humans, Male, Molecular Chaperones (genetics), Molecular Chaperones (metabolism), Mutation (genetics), Neuroblastoma (pathology), Nuclear Proteins (genetics), Nuclear Proteins (metabolism), Transfection, Valine (genetics).
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, Aspartic Acid, DNA-Binding Proteins, Molecular Chaperones, Nuclear Proteins, Valine.
- chemical , metabolism : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Molecular Chaperones, Nuclear Proteins.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease, Mutation.
- pathology : Neuroblastoma.
- Adult, Asian Continental Ancestry Group, Cell Line, Tumor, Cohort Studies, DNA Mutational Analysis, Female, Genotype, HEK293 Cells, Humans, Male, Transfection.
Abstract
The ΔGAG deletion of the TOR1A gene (DYT1) is responsible for DYT1 dystonia. However, no other TOR1A mutation has been reported in the Chinese population.
DOI: 10.1002/mds.25921
PubMed: 24862462
Affiliations:
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Le document en format XML
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Department of Neurology, the First Hospital of Jilin University, Changchun, PR China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics, University of Tuebingen, 72076, Germany; Department of Neurology, the First Hospital of Jilin University, Changchun</wicri:regionArea><placeName><settlement type="city">Changchun</settlement><region type="province">Jilin</region><region type="groupement">Dongbei</region></placeName></affiliation></author><author><name sortKey="Feng, Jia Chun" sort="Feng, Jia Chun" uniqKey="Feng J" first="Jia-Chun" last="Feng">Jia-Chun Feng</name></author><author><name sortKey="Ma, Ling Yan" sort="Ma, Ling Yan" uniqKey="Ma L" first="Ling-Yan" last="Ma">Ling-Yan Ma</name></author><author><name sortKey="Miao, Jing" sort="Miao, Jing" uniqKey="Miao J" first="Jing" last="Miao">Jing Miao</name></author><author><name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name></author><author><name sortKey="Wan, Xin Hua" sort="Wan, Xin Hua" uniqKey="Wan X" first="Xin-Hua" last="Wan">Xin-Hua Wan</name></author><author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>Apoptosis Regulatory Proteins (metabolism)</term><term>Asian Continental Ancestry Group</term><term>Aspartic Acid (genetics)</term><term>Cell Line, Tumor</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>DNA-Binding Proteins (genetics)</term><term>DNA-Binding Proteins (metabolism)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>HEK293 Cells</term><term>Humans</term><term>Male</term><term>Molecular Chaperones (genetics)</term><term>Molecular Chaperones (metabolism)</term><term>Mutation (genetics)</term><term>Neuroblastoma (pathology)</term><term>Nuclear Proteins (genetics)</term><term>Nuclear Proteins (metabolism)</term><term>Transfection</term><term>Valine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term><term>Aspartic Acid</term><term>DNA-Binding Proteins</term><term>Molecular Chaperones</term><term>Nuclear Proteins</term><term>Valine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Apoptosis Regulatory Proteins</term><term>DNA-Binding Proteins</term><term>Molecular Chaperones</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Genetic Predisposition to Disease</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Neuroblastoma</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Asian Continental Ancestry Group</term><term>Cell Line, Tumor</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genotype</term><term>HEK293 Cells</term><term>Humans</term><term>Male</term><term>Transfection</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The ΔGAG deletion of the TOR1A gene (DYT1) is responsible for DYT1 dystonia. However, no other TOR1A mutation has been reported in the Chinese population.</div></front></TEI><affiliations><list><country><li>République populaire de Chine</li></country><region><li>Dongbei</li><li>Jilin</li></region><settlement><li>Changchun</li></settlement></list><tree><noCountry><name sortKey="Feng, Jia Chun" sort="Feng, Jia Chun" uniqKey="Feng J" first="Jia-Chun" last="Feng">Jia-Chun Feng</name><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name><name sortKey="Ma, Ling Yan" sort="Ma, Ling Yan" uniqKey="Ma L" first="Ling-Yan" last="Ma">Ling-Yan Ma</name><name sortKey="Miao, Jing" sort="Miao, Jing" uniqKey="Miao J" first="Jing" last="Miao">Jing Miao</name><name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name><name sortKey="Wan, Xin Hua" sort="Wan, Xin Hua" uniqKey="Wan X" first="Xin-Hua" last="Wan">Xin-Hua Wan</name></noCountry><country name="République populaire de Chine"><region name="Jilin"><name sortKey="Cheng, Fu Bo" sort="Cheng, Fu Bo" uniqKey="Cheng F" first="Fu-Bo" last="Cheng">Fu-Bo Cheng</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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