DNAJC13 genetic variants in parkinsonism.
Identifieur interne : 004160 ( Ncbi/Merge ); précédent : 004159; suivant : 004161DNAJC13 genetic variants in parkinsonism.
Auteurs : Emil K. Gustavsson [Norvège] ; Joanne Trinh ; Ilaria Guella ; Carles Vilari O-Güell ; Silke Appel-Cresswell ; A Jon Stoessl ; Joseph K. Tsui ; Martin Mckeown ; Alex Rajput ; Ali H. Rajput ; Jan O. Aasly ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
English descriptors
- KwdEn :
- Age of Onset, Female, Gene Frequency (genetics), Genetic Predisposition to Disease, Genotype, Humans, Male, Molecular Chaperones (genetics), Mutation, Missense (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics).
- MESH :
- chemical , genetics : Molecular Chaperones.
- diagnosis : Parkinson Disease, Parkinsonian Disorders.
- genetics : Gene Frequency, Mutation, Missense, Parkinson Disease, Parkinsonian Disorders.
- Age of Onset, Female, Genetic Predisposition to Disease, Genotype, Humans, Male.
Abstract
A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late-onset Lewy body parkinsonism in a Dutch-German-Russian Mennonite multi-incident kindred.
DOI: 10.1002/mds.26064
PubMed: 25393719
Links toward previous steps (curation, corpus...)
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pubmed:25393719Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">DNAJC13 genetic variants in parkinsonism.</title><author><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name><affiliation wicri:level="3"><nlm:affiliation>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name></author><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></author><author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name></author><author><name sortKey="Tsui, Joseph K" sort="Tsui, Joseph K" uniqKey="Tsui J" first="Joseph K" last="Tsui">Joseph K. Tsui</name></author><author><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25393719</idno><idno type="pmid">25393719</idno><idno type="doi">10.1002/mds.26064</idno><idno type="wicri:Area/PubMed/Corpus">000345</idno><idno type="wicri:Area/PubMed/Curation">000345</idno><idno type="wicri:Area/PubMed/Checkpoint">000280</idno><idno type="wicri:Area/Ncbi/Merge">004160</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">DNAJC13 genetic variants in parkinsonism.</title><author><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name><affiliation wicri:level="3"><nlm:affiliation>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name></author><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></author><author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name></author><author><name sortKey="Tsui, Joseph K" sort="Tsui, Joseph K" uniqKey="Tsui J" first="Joseph K" last="Tsui">Joseph K. Tsui</name></author><author><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</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="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Molecular Chaperones (genetics)</term><term>Mutation, Missense (genetics)</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Frequency</term><term>Mutation, Missense</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late-onset Lewy body parkinsonism in a Dutch-German-Russian Mennonite multi-incident kindred.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">25393719</PMID><DateCreated><Year>2015</Year><Month>02</Month><Day>04</Day></DateCreated><DateCompleted><Year>2015</Year><Month>10</Month><Day>22</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>30</Volume><Issue>2</Issue><PubDate><Year>2015</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>DNAJC13 genetic variants in parkinsonism.</ArticleTitle><Pagination><MedlinePgn>273-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26064</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late-onset Lewy body parkinsonism in a Dutch-German-Russian Mennonite multi-incident kindred.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">DNAJC13 was sequenced in 201 patients with parkinsonism and 194 controls from Canada. Rare (minor allele frequency < 0.01) missense variants identified in patients were genotyped in two Parkinson's disease case-controls cohorts.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Eighteen rare missense mutations were identified; four were observed in controls, three were observed in both patients and controls, and eleven were identified only in patients. Subsequent genotyping showed p.E1740Q and p.L2170W to be more frequent in patients, and p.R1516H being more frequent in controls. Additionally, p.P336A, p.V722L, p.N855S, p.R1266Q were seen in one patient each, and p.T1895M was found in two patients.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Although the contribution of rare genetic variation in DNAJC13 to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility.</AbstractText><CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gustavsson</LastName><ForeName>Emil K</ForeName><Initials>EK</Initials><AffiliationInfo><Affiliation>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Trinh</LastName><ForeName>Joanne</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Guella</LastName><ForeName>Ilaria</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Vilariño-Güell</LastName><ForeName>Carles</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Appel-Cresswell</LastName><ForeName>Silke</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Stoessl</LastName><ForeName>A Jon</ForeName><Initials>AJ</Initials></Author><Author ValidYN="Y"><LastName>Tsui</LastName><ForeName>Joseph K</ForeName><Initials>JK</Initials></Author><Author ValidYN="Y"><LastName>McKeown</LastName><ForeName>Martin</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Alex</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Ali H</ForeName><Initials>AH</Initials></Author><Author ValidYN="Y"><LastName>Aasly</LastName><ForeName>Jan O</ForeName><Initials>JO</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>11</Month><Day>12</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="C507525">DNAJC13 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018832">Molecular Chaperones</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018832">Molecular Chaperones</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">DNAJC13</Keyword><Keyword MajorTopicYN="N">NGS</Keyword><Keyword MajorTopicYN="N">genetics</Keyword><Keyword MajorTopicYN="N">mutations</Keyword><Keyword MajorTopicYN="N">parkinsonism</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>5</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>9</Month><Day>15</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>9</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year><Month>11</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>11</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>11</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>10</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25393719</ArticleId><ArticleId IdType="doi">10.1002/mds.26064</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Norvège</li></country><region><li>Trøndelag</li></region><settlement><li>Trondheim</li></settlement></list><tree><noCountry><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name><name sortKey="Tsui, Joseph K" sort="Tsui, Joseph K" uniqKey="Tsui J" first="Joseph K" last="Tsui">Joseph K. Tsui</name><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></noCountry><country name="Norvège"><region name="Trøndelag"><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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