Codon 101 of PRKCG, a preferential mutation site in SCA14.
Identifieur interne : 002907 ( PubMed/Checkpoint ); précédent : 002906; suivant : 002908Codon 101 of PRKCG, a preferential mutation site in SCA14.
Auteurs : Dagmar Nolte ; Stephan Klebe ; Ralf Baron ; Günther Deuschl ; Ulrich MüllerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Codon, Histidine, Protein Kinase C, Tyrosine.
- classification : Spinocerebellar Ataxias.
- genetics : Exons, Spinocerebellar Ataxias.
- DNA Mutational Analysis, Family Health, Humans, Male, Middle Aged, Mutation.
DOI: 10.1002/mds.21654
PubMed: 17659643
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:17659643Le document en format XML
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<author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
</author>
<author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name>
</author>
<author><name sortKey="Baron, Ralf" sort="Baron, Ralf" uniqKey="Baron R" first="Ralf" last="Baron">Ralf Baron</name>
</author>
<author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name>
</author>
<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Codon 101 of PRKCG, a preferential mutation site in SCA14.</title>
<author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
</author>
<author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name>
</author>
<author><name sortKey="Baron, Ralf" sort="Baron, Ralf" uniqKey="Baron R" first="Ralf" last="Baron">Ralf Baron</name>
</author>
<author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name>
</author>
<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>
</imprint>
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</sourceDesc>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Codon (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Family Health</term>
<term>Histidine (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Protein Kinase C (genetics)</term>
<term>Spinocerebellar Ataxias (classification)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Tyrosine (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon</term>
<term>Histidine</term>
<term>Protein Kinase C</term>
<term>Tyrosine</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>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
</keywords>
</textClass>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17659643</PMID>
<DateCreated><Year>2007</Year>
<Month>10</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted><Year>2008</Year>
<Month>01</Month>
<Day>09</Day>
</DateCompleted>
<DateRevised><Year>2013</Year>
<Month>11</Month>
<Day>21</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>12</Issue>
<PubDate><Year>2007</Year>
<Month>Sep</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Codon 101 of PRKCG, a preferential mutation site in SCA14.</ArticleTitle>
<Pagination><MedlinePgn>1831-2</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Nolte</LastName>
<ForeName>Dagmar</ForeName>
<Initials>D</Initials>
</Author>
<Author ValidYN="Y"><LastName>Klebe</LastName>
<ForeName>Stephan</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Baron</LastName>
<ForeName>Ralf</ForeName>
<Initials>R</Initials>
</Author>
<Author ValidYN="Y"><LastName>Deuschl</LastName>
<ForeName>Günther</ForeName>
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<Author ValidYN="Y"><LastName>Müller</LastName>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D003062">Codon</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>42HK56048U</RegistryNumber>
<NameOfSubstance UI="D014443">Tyrosine</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>4QD397987E</RegistryNumber>
<NameOfSubstance UI="D006639">Histidine</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.1.-</RegistryNumber>
<NameOfSubstance UI="C087857">protein kinase C gamma</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.13</RegistryNumber>
<NameOfSubstance UI="D011493">Protein Kinase C</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003062">Codon</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006639">Histidine</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D011493">Protein Kinase C</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000145">classification</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014443">Tyrosine</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>7</Month>
<Day>31</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2008</Year>
<Month>1</Month>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21654</ArticleId>
<ArticleId IdType="pubmed">17659643</ArticleId>
</ArticleIdList>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Baron, Ralf" sort="Baron, Ralf" uniqKey="Baron R" first="Ralf" last="Baron">Ralf Baron</name>
<name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name>
<name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name>
<name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
<name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
</noCountry>
</tree>
</affiliations>
</record>
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