LRRK2 variation and Parkinson's disease in African Americans
Identifieur interne : 002D45 ( Ncbi/Curation ); précédent : 002D44; suivant : 002D46LRRK2 variation and Parkinson's disease in African Americans
Auteurs : Owen A. Ross [États-Unis] ; Greggory J. Wilhoite [États-Unis] ; Justin A. Bacon [États-Unis] ; Alexandra Soto-Ortolaza [États-Unis] ; Jennifer Kachergus [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Andreas Puschmann [États-Unis] ; Carles Vilari O-Güell [États-Unis] ; Matthew J. Farrer [États-Unis] ; Neill Graff-Radford [États-Unis] ; James F. Meschia [États-Unis] ; Zbigniew K. Wszolek [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- ethnology : Parkinson Disease.
- genetics : African Americans, Parkinson Disease.
- Adult, Aged, Alleles, Exons, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation.
Abstract
The global impact of
Url:
DOI: 10.1002/mds.23163
PubMed: 20669299
PubMed Central: 2939165
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000106
- to stream Pmc, to step Curation: Pour aller vers cette notice dans l'étape Curation :000106
- to stream Pmc, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000375
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001672
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :001672
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001807
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :002D45
Links to Exploration step
PMC:2939165Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>LRRK2</italic>
variation and Parkinson's disease in African Americans</title>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wilhoite, Greggory J" sort="Wilhoite, Greggory J" uniqKey="Wilhoite G" first="Greggory J." last="Wilhoite">Greggory J. Wilhoite</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Soto Ortolaza, Alexandra" sort="Soto Ortolaza, Alexandra" uniqKey="Soto Ortolaza A" first="Alexandra" last="Soto-Ortolaza">Alexandra Soto-Ortolaza</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</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>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Graff Radford, Neill" sort="Graff Radford, Neill" uniqKey="Graff Radford N" first="Neill" last="Graff-Radford">Neill Graff-Radford</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Meschia, James F" sort="Meschia, James F" uniqKey="Meschia J" first="James F." last="Meschia">James F. Meschia</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">20669299</idno>
<idno type="pmc">2939165</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939165</idno>
<idno type="RBID">PMC:2939165</idno>
<idno type="doi">10.1002/mds.23163</idno>
<date when="2010">2010</date>
<idno type="wicri:Area/Pmc/Corpus">000106</idno>
<idno type="wicri:Area/Pmc/Curation">000106</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000375</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001672</idno>
<idno type="wicri:Area/PubMed/Curation">001672</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001807</idno>
<idno type="wicri:Area/Ncbi/Merge">002D45</idno>
<idno type="wicri:Area/Ncbi/Curation">002D45</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>LRRK2</italic>
variation and Parkinson's disease in African Americans</title>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wilhoite, Greggory J" sort="Wilhoite, Greggory J" uniqKey="Wilhoite G" first="Greggory J." last="Wilhoite">Greggory J. Wilhoite</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Soto Ortolaza, Alexandra" sort="Soto Ortolaza, Alexandra" uniqKey="Soto Ortolaza A" first="Alexandra" last="Soto-Ortolaza">Alexandra Soto-Ortolaza</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</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>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Graff Radford, Neill" sort="Graff Radford, Neill" uniqKey="Graff Radford N" first="Neill" last="Graff-Radford">Neill Graff-Radford</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Meschia, James F" sort="Meschia, James F" uniqKey="Meschia J" first="James F." last="Meschia">James F. Meschia</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>African Americans (genetics)</term>
<term>Aged</term>
<term>Alleles</term>
<term>Exons</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>African Americans</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>Exons</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P32">The global impact of <italic>LRRK2</italic>
mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein we investigated the frequency of common <italic>LRRK2</italic>
variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and thirteen known coding variations however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific <italic>LRRK2</italic>
variation previously identified in PD further studies in under-represented populations are warranted.</p>
</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002D45 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 002D45 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Curation |type= RBID |clé= PMC:2939165 |texte= LRRK2 variation and Parkinson's disease in African Americans }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:20669299" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |