MovDisordV3, Ncbi, Checkpoint, bibRecord, 001988

Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.

Identifieur interne : 001988 ( Ncbi/Checkpoint ); précédent : 001987; suivant : 001989

Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.

Auteurs : Dagmar Nolte [Allemagne] ; Melanie Landendinger ; Eberhard Schmitt ; Ulrich Müller

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17149711

Descripteurs français

Wicri :
- geographic : Allemagne.

English descriptors

KwdEn :
- DNA Mutational Analysis, Exons (genetics), Germany, Humans, Male, Middle Aged, Pedigree, Point Mutation (genetics), Protein Kinase C (genetics), Rare Diseases, Signal Transduction, Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (genetics).
MESH :
- chemical , genetics : Protein Kinase C.
- geographic : Germany.
- classification : Spinocerebellar Ataxias.
- genetics : Exons, Point Mutation, Spinocerebellar Ataxias.
- DNA Mutational Analysis, Humans, Male, Middle Aged, Pedigree, Rare Diseases, Signal Transduction.

Abstract

We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine-rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG.

DOI: 10.1002/mds.21269
PubMed: 17149711

Affiliations:

Allemagne

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pubmed:17149711

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.</title>
<author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Justus-Liebig Universität Giessen, Germany. dagmar.nolte@humangenetik.med.uni-giessen.de</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig Universität Giessen</wicri:regionArea>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
</author>
<author><name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name>
</author>
<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21269</idno>
<idno type="RBID">pubmed:17149711</idno>
<idno type="pmid">17149711</idno>
<idno type="wicri:Area/PubMed/Corpus">002951</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.</title>
<author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Justus-Liebig Universität Giessen, Germany. dagmar.nolte@humangenetik.med.uni-giessen.de</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig Universität Giessen</wicri:regionArea>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
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<author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
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<author><name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name>
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<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007" type="published">2007</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Germany</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Point Mutation (genetics)</term>
<term>Protein Kinase C (genetics)</term>
<term>Rare Diseases</term>
<term>Signal Transduction</term>
<term>Spinocerebellar Ataxias (classification)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinase C</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term>
</keywords>
<keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Point Mutation</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Rare Diseases</term>
<term>Signal Transduction</term>
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<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term>
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<front><div type="abstract" xml:lang="en">We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine-rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
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<tree><noCountry><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
<name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
<name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name>
</noCountry>
<country name="Allemagne"><noRegion><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.

Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.

Source :

Descripteurs français

English descriptors

Abstract

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

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