Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
Identifieur interne : 001126 ( PubMed/Curation ); précédent : 001125; suivant : 001127Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
Auteurs : Nutan Sharma ; Ioanna A. Armata ; Trisha J. Multhaupt-Buell ; Laurie J. Ozelius ; Winnie Xin ; Katherine B. SimsSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : 5' Untranslated Regions, GTP Cyclohydrolase.
- genetics : Dystonic Disorders, Mutation.
- DNA Mutational Analysis, Family Health, Female, Humans, Male.
DOI: 10.1002/mds.23786
PubMed: 21674621
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001126
Links to Exploration step
pubmed:21674621Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.</title>
<author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
</author>
<author><name sortKey="Armata, Ioanna A" sort="Armata, Ioanna A" uniqKey="Armata I" first="Ioanna A" last="Armata">Ioanna A. Armata</name>
</author>
<author><name sortKey="Multhaupt Buell, Trisha J" sort="Multhaupt Buell, Trisha J" uniqKey="Multhaupt Buell T" first="Trisha J" last="Multhaupt-Buell">Trisha J. Multhaupt-Buell</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</author>
<author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name>
</author>
<author><name sortKey="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B" last="Sims">Katherine B. Sims</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2011">2011</date>
<idno type="doi">10.1002/mds.23786</idno>
<idno type="RBID">pubmed:21674621</idno>
<idno type="pmid">21674621</idno>
<idno type="wicri:Area/PubMed/Corpus">001126</idno>
<idno type="wicri:Area/PubMed/Curation">001126</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.</title>
<author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
</author>
<author><name sortKey="Armata, Ioanna A" sort="Armata, Ioanna A" uniqKey="Armata I" first="Ioanna A" last="Armata">Ioanna A. Armata</name>
</author>
<author><name sortKey="Multhaupt Buell, Trisha J" sort="Multhaupt Buell, Trisha J" uniqKey="Multhaupt Buell T" first="Trisha J" last="Multhaupt-Buell">Trisha J. Multhaupt-Buell</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</author>
<author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name>
</author>
<author><name sortKey="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B" last="Sims">Katherine B. Sims</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="2011" type="published">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>5' Untranslated Regions (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Dystonic Disorders (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>GTP Cyclohydrolase (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>5' Untranslated Regions</term>
<term>GTP Cyclohydrolase</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21674621</PMID>
<DateCreated><Year>2011</Year>
<Month>09</Month>
<Day>20</Day>
</DateCreated>
<DateCompleted><Year>2012</Year>
<Month>01</Month>
<Day>27</Day>
</DateCompleted>
<DateRevised><Year>2014</Year>
<Month>10</Month>
<Day>22</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>26</Volume>
<Issue>11</Issue>
<PubDate><Year>2011</Year>
<Month>Sep</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.</ArticleTitle>
<Pagination><MedlinePgn>2140-1</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23786</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sharma</LastName>
<ForeName>Nutan</ForeName>
<Initials>N</Initials>
</Author>
<Author ValidYN="Y"><LastName>Armata</LastName>
<ForeName>Ioanna A</ForeName>
<Initials>IA</Initials>
</Author>
<Author ValidYN="Y"><LastName>Multhaupt-Buell</LastName>
<ForeName>Trisha J</ForeName>
<Initials>TJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ozelius</LastName>
<ForeName>Laurie J</ForeName>
<Initials>LJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Xin</LastName>
<ForeName>Winnie</ForeName>
<Initials>W</Initials>
</Author>
<Author ValidYN="Y"><LastName>Sims</LastName>
<ForeName>Katherine B</ForeName>
<Initials>KB</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>5P50NS037409</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P50 NS037409</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P50 NS037409-11</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D016422">Letter</PublicationType>
<PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2011</Year>
<Month>06</Month>
<Day>14</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D020121">5' Untranslated Regions</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.5.4.16</RegistryNumber>
<NameOfSubstance UI="D006136">GTP Cyclohydrolase</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList><SupplMeshName Type="Disease" UI="C538007">Dystonia, Dopa-responsive</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Brain. 2000 Jun;123 ( Pt 6):1112-21</RefSource>
<PMID Version="1">10825351</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Adv Neurol. 1976;14:215-33</RefSource>
<PMID Version="1">945938</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2010 Oct 15;25(13):2183-7</RefSource>
<PMID Version="1">20669276</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 1998 Oct;44(4):649-56</RefSource>
<PMID Version="1">9778264</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Adv Neurol. 1988;50:377-84</RefSource>
<PMID Version="1">3041760</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020121">5' Untranslated Regions</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="D020821">Dystonic Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005192">Family Health</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006136">GTP Cyclohydrolase</DescriptorName>
<QualifierName MajorTopicYN="Y" 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="D009154">Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
<OtherID Source="NLM">NIHMS290579</OtherID>
<OtherID Source="NLM">PMC3175261</OtherID>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year>
<Month>2</Month>
<Day>15</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2011</Year>
<Month>4</Month>
<Day>12</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2011</Year>
<Month>4</Month>
<Day>17</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year>
<Month>6</Month>
<Day>14</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2011</Year>
<Month>6</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2011</Year>
<Month>6</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2012</Year>
<Month>1</Month>
<Day>28</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.23786</ArticleId>
<ArticleId IdType="pubmed">21674621</ArticleId>
<ArticleId IdType="pmc">PMC3175261</ArticleId>
<ArticleId IdType="mid">NIHMS290579</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001126 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 001126 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= PubMed |étape= Curation |type= RBID |clé= pubmed:21674621 |texte= Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:21674621" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |