G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.
Identifieur interne : 000091 ( Ncbi/Merge ); précédent : 000090; suivant : 000092G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.
Auteurs : H. Deng [États-Unis] ; W Le ; X. Zhang ; T Pan ; Joseph Jankovic [États-Unis]Source :
- Acta neurologica Scandinavica [ 0001-6314 ] ; 2005.
Descripteurs français
- Wicri :
- geographic : États-Unis.
English descriptors
- KwdEn :
- Adult, Amino Acid Substitution, DNA Mutational Analysis, European Continental Ancestry Group (genetics), Female, Genetic Testing, Genome, Human, Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (ethnology), Parkinson Disease (genetics), Parkinson Disease (metabolism), Protein Kinases (genetics), United States.
- MESH :
- chemical , genetics : Protein Kinases.
- geographic : United States.
- ethnology : Parkinson Disease.
- genetics : European Continental Ancestry Group, Mutation, Parkinson Disease.
- metabolism : Parkinson Disease.
- Adult, Amino Acid Substitution, DNA Mutational Analysis, Female, Genetic Testing, Genome, Human, Humans, Male, Middle Aged.
Abstract
To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD).
DOI: 10.1111/j.1600-0404.2005.00383.x
PubMed: 15876334
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.</title><author><name sortKey="Deng, H" sort="Deng, H" uniqKey="Deng H" first="H" last="Deng">H. Deng</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Le, W D" sort="Le, W D" uniqKey="Le W" first="W" last="Le">W Le</name></author><author><name sortKey="Zhang, X" sort="Zhang, X" uniqKey="Zhang X" first="X" last="Zhang">X. Zhang</name></author><author><name sortKey="Pan, T H" sort="Pan, T H" uniqKey="Pan T" first="T" last="Pan">T Pan</name></author><author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">Joseph Jankovic</name><affiliation><country>États-Unis</country><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1111/j.1600-0404.2005.00383.x</idno><idno type="RBID">pubmed:15876334</idno><idno type="pmid">15876334</idno><idno type="wicri:Area/PubMed/Corpus">000198</idno><idno type="wicri:Area/PubMed/Curation">000198</idno><idno type="wicri:Area/PubMed/Checkpoint">000196</idno><idno type="wicri:Area/Ncbi/Merge">000091</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.</title><author><name sortKey="Deng, H" sort="Deng, H" uniqKey="Deng H" first="H" last="Deng">H. Deng</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Le, W D" sort="Le, W D" uniqKey="Le W" first="W" last="Le">W Le</name></author><author><name sortKey="Zhang, X" sort="Zhang, X" uniqKey="Zhang X" first="X" last="Zhang">X. Zhang</name></author><author><name sortKey="Pan, T H" sort="Pan, T H" uniqKey="Pan T" first="T" last="Pan">T Pan</name></author><author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">Joseph Jankovic</name><affiliation><country>États-Unis</country><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author></analytic><series><title level="j">Acta neurologica Scandinavica</title><idno type="ISSN">0001-6314</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Amino Acid Substitution</term><term>DNA Mutational Analysis</term><term>European Continental Ancestry Group (genetics)</term><term>Female</term><term>Genetic Testing</term><term>Genome, Human</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (metabolism)</term><term>Protein Kinases (genetics)</term><term>United States</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>United States</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>European Continental Ancestry Group</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Amino Acid Substitution</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Testing</term><term>Genome, Human</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>États-Unis</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD).</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">15876334</PMID><DateCreated><Year>2005</Year><Month>05</Month><Day>06</Day></DateCreated><DateCompleted><Year>2005</Year><Month>07</Month><Day>28</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0001-6314</ISSN><JournalIssue CitedMedium="Print"><Volume>111</Volume><Issue>6</Issue><PubDate><Year>2005</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Acta neurologica Scandinavica</Title><ISOAbbreviation>Acta Neurol. Scand.</ISOAbbreviation></Journal><ArticleTitle>G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.</ArticleTitle><Pagination><MedlinePgn>351-2</MedlinePgn></Pagination><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD).</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">None of the 237 samples showed the G309D or W437OPA mutations.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Deng</LastName><ForeName>H</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Le</LastName><ForeName>W D</ForeName><Initials>WD</Initials></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>X</ForeName><Initials>X</Initials></Author><Author ValidYN="Y"><LastName>Pan</LastName><ForeName>T H</ForeName><Initials>TH</Initials></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>J</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>043567</GrantID><Agency>PHS HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Denmark</Country><MedlineTA>Acta Neurol Scand</MedlineTA><NlmUniqueID>0370336</NlmUniqueID><ISSNLinking>0001-6314</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.-</RegistryNumber><NameOfSubstance UI="D011494">Protein Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C433927">PTEN-induced putative kinase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019943">Amino Acid Substitution</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational 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UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011494">Protein Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D014481">United States</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>5</Month><Day>7</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2005</Year><Month>7</Month><Day>29</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>5</Month><Day>7</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pii">ANE383</ArticleId><ArticleId IdType="doi">10.1111/j.1600-0404.2005.00383.x</ArticleId><ArticleId IdType="pubmed">15876334</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Texas</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><noCountry><name sortKey="Le, W D" sort="Le, W D" uniqKey="Le W" first="W" last="Le">W Le</name><name sortKey="Pan, T H" sort="Pan, T H" uniqKey="Pan T" first="T" last="Pan">T Pan</name><name sortKey="Zhang, X" sort="Zhang, X" uniqKey="Zhang X" first="X" last="Zhang">X. Zhang</name></noCountry><country name="États-Unis"><region name="Texas"><name sortKey="Deng, H" sort="Deng, H" uniqKey="Deng H" first="H" last="Deng">H. Deng</name></region><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">Joseph Jankovic</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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