MovDisordV3, PubMed, Corpus, bibRecord, 003401

Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.

Identifieur interne : 003401 ( PubMed/Corpus ); précédent : 003400; suivant : 003402

Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.

Auteurs : Christoph Kamm ; Joanne Leung ; Soni Joseph ; William B. Dobyns ; Alison Brashear ; Xandra O. Breakefield ; Laurie J. Ozelius

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.

RBID : pubmed:15254951

English descriptors

KwdEn :
- Chromosomes, Human, Pair 19 (genetics), DNA Primers (genetics), Dystonia (genetics), Exons (genetics), Gene Expression, Genetic Linkage, Genetic Markers, Genotype, Humans, Introns (genetics), Parkinsonian Disorders (genetics), Point Mutation (genetics), Polymerase Chain Reaction, RNA, Messenger (genetics), Receptor, Metabotropic Glutamate 5, Receptors, Metabotropic Glutamate (genetics).
MESH :
- chemical , genetics : DNA Primers, RNA, Messenger, Receptors, Metabotropic Glutamate.
- genetics : Chromosomes, Human, Pair 19, Dystonia, Exons, Introns, Parkinsonian Disorders, Point Mutation.
- Gene Expression, Genetic Linkage, Genetic Markers, Genotype, Humans, Polymerase Chain Reaction, Receptor, Metabotropic Glutamate 5.

Abstract

By examining two previously described families with rapid-onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.

DOI: 10.1002/mds.20095
PubMed: 15254951

Links to Exploration step

pubmed:15254951

Le document en format XML

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<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<affiliation><nlm:affiliation>Molecular Neurogenetics Unit, Department of Neurology, Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Leung, Joanne" sort="Leung, Joanne" uniqKey="Leung J" first="Joanne" last="Leung">Joanne Leung</name>
</author>
<author><name sortKey="Joseph, Soni" sort="Joseph, Soni" uniqKey="Joseph S" first="Soni" last="Joseph">Soni Joseph</name>
</author>
<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B" last="Dobyns">William B. Dobyns</name>
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<author><name sortKey="Brashear, Alison" sort="Brashear, Alison" uniqKey="Brashear A" first="Alison" last="Brashear">Alison Brashear</name>
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<author><name sortKey="Breakefield, Xandra O" sort="Breakefield, Xandra O" uniqKey="Breakefield X" first="Xandra O" last="Breakefield">Xandra O. Breakefield</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Gene Expression</term>
<term>Genetic Linkage</term>
<term>Genetic Markers</term>
<term>Genotype</term>
<term>Humans</term>
<term>Introns (genetics)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Point Mutation (genetics)</term>
<term>Polymerase Chain Reaction</term>
<term>RNA, Messenger (genetics)</term>
<term>Receptor, Metabotropic Glutamate 5</term>
<term>Receptors, Metabotropic Glutamate (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term>
<term>RNA, Messenger</term>
<term>Receptors, Metabotropic Glutamate</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 19</term>
<term>Dystonia</term>
<term>Exons</term>
<term>Introns</term>
<term>Parkinsonian Disorders</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Gene Expression</term>
<term>Genetic Linkage</term>
<term>Genetic Markers</term>
<term>Genotype</term>
<term>Humans</term>
<term>Polymerase Chain Reaction</term>
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<front><div type="abstract" xml:lang="en">By examining two previously described families with rapid-onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.</div>
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<Abstract><AbstractText>By examining two previously described families with rapid-onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.</AbstractText>
<CopyrightInformation>Copyright 2004 Movement Disorder Society</CopyrightInformation>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.

Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki