MovDisordV3, Main, Exploration, bibRecord, 000C45

Pseudo-heterozygous rearrangement mutation of parkin.

Identifieur interne : 000C45 ( Main/Exploration ); précédent : 000C44; suivant : 000C46

Pseudo-heterozygous rearrangement mutation of parkin.

Auteurs : Manabu Funayama [Japon] ; Hiroyo Yoshino ; Yuanzhe Li ; Hiromichi Kusaka ; Hiroyuki Tomiyama ; Nobutaka Hattori

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.

RBID : pubmed:22308057

English descriptors

KwdEn :
- DNA Mutational Analysis, Female, Humans, Mutation, Parkinsonian Disorders (genetics), Ubiquitin-Protein Ligases (genetics), Young Adult.
MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- genetics : Parkinsonian Disorders.
- DNA Mutational Analysis, Female, Humans, Mutation, Young Adult.

Abstract

Mutations in parkin are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect parkin rearrangements. However, the method has an inherent problem-deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in parkin.

DOI: 10.1002/mds.24906
PubMed: 22308057

Affiliations:

Japon
Tokyo

Le document en format XML

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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<affiliation wicri:level="3"><nlm:affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan. funayama@juntendo.ac.jp</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
</author>
<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
</author>
<author><name sortKey="Kusaka, Hiromichi" sort="Kusaka, Hiromichi" uniqKey="Kusaka H" first="Hiromichi" last="Kusaka">Hiromichi Kusaka</name>
</author>
<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Pseudo-heterozygous rearrangement mutation of parkin.</title>
<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<affiliation wicri:level="3"><nlm:affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan. funayama@juntendo.ac.jp</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
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<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
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<author><name sortKey="Kusaka, Hiromichi" sort="Kusaka, Hiromichi" uniqKey="Kusaka H" first="Hiromichi" last="Kusaka">Hiromichi Kusaka</name>
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<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2012" type="published">2012</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Mutation</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Mutation</term>
<term>Young Adult</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Mutations in parkin are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect parkin rearrangements. However, the method has an inherent problem-deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in parkin.</div>
</front>
</TEI>
<affiliations><list><country><li>Japon</li>
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<settlement><li>Tokyo</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<name sortKey="Kusaka, Hiromichi" sort="Kusaka, Hiromichi" uniqKey="Kusaka H" first="Hiromichi" last="Kusaka">Hiromichi Kusaka</name>
<name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
<name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
<name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
</noCountry>
<country name="Japon"><noRegion><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Pseudo-heterozygous rearrangement mutation of parkin.

Pseudo-heterozygous rearrangement mutation of parkin.

Source :

English descriptors

Abstract

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

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

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.