Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Detectable Clonal Mosaicism in the Human Genome</title><author><name sortKey="Machiela, Mitchell J" sort="Machiela, Mitchell J" uniqKey="Machiela M" first="Mitchell J." last="Machiela">Mitchell J. Machiela</name></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J." last="Chanock">Stephen J. Chanock</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24246702</idno><idno type="pmc">3855860</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855860</idno><idno type="RBID">PMC:3855860</idno><idno type="doi">10.1053/j.seminhematol.2013.09.001</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">003396</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003396</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Detectable Clonal Mosaicism in the Human Genome</title><author><name sortKey="Machiela, Mitchell J" sort="Machiela, Mitchell J" uniqKey="Machiela M" first="Mitchell J." last="Machiela">Mitchell J. Machiela</name></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J." last="Chanock">Stephen J. Chanock</name></author></analytic><series><title level="j">Seminars in hematology</title><idno type="ISSN">0037-1963</idno><idno type="eISSN">1532-8686</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P2">Human genetic mosaicism is the presence of two or more cellular populations with distinct genotypes in an individual who developed from a single fertilized ovum. While initially observed across a spectrum of rare genetic disorders, detailed assessment of data from genome-wide association studies now reveal that detectable clonal mosaicism involving large structural alterations (> 2 Mb) can also be seen in populations of apparently healthy individuals. The first generation of descriptive studies have generated new interest in understanding the molecular basis of the affected genomic regions, percent of the cellular subpopulation involved, and developmental timing of the underlying mutational event, which could reveal new insights into the initiation, clonal expansion and phenotypic manifestations of mosaic events. Early evidence indicates detectable clonal mosaicism increases in frequency with age and could preferentially occur in males. The observed pattern of recurrent events affecting specific chromosomal regions indicates some regions are more susceptible to these events, which could reflect inter-individual differences in genomic stability. Moreover, it is also plausible that the presence of large structural events could be associated with cancer risk. The characterization of detectable genetic mosaicism reveals that there could be important dynamic changes in the human genome associated with the aging process, which could be associated with risk for common disorders, such as cancer, cardiovascular disease, diabetes, and neurological disorders.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0404514</journal-id><journal-id journal-id-type="pubmed-jr-id">7490</journal-id><journal-id journal-id-type="nlm-ta">Semin Hematol</journal-id><journal-id journal-id-type="iso-abbrev">Semin. Hematol.</journal-id><journal-title-group><journal-title>Seminars in hematology</journal-title></journal-title-group><issn pub-type="ppub">0037-1963</issn><issn pub-type="epub">1532-8686</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24246702</article-id><article-id pub-id-type="pmc">3855860</article-id><article-id pub-id-type="doi">10.1053/j.seminhematol.2013.09.001</article-id><article-id pub-id-type="manuscript">NIHMS534074</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Detectable Clonal Mosaicism in the Human Genome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Machiela</surname><given-names>Mitchell J.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chanock</surname><given-names>Stephen J.</given-names></name><xref rid="FN1" ref-type="author-notes">*</xref></contrib><aff id="A1">Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA. 20892-4605</aff></contrib-group><author-notes><corresp id="FN1"><label>*</label>CORRESPONDING AUTHOR: Stephen J. Chanock, Laboratory of Translational Genomics, 8717 Grovemont Circle, ATC Room 134D, Office: (301) 435-7559, Fax: (301) 402-3134, <email>chanocks@mail.nih.gov</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>28</day><month>11</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>10</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>10</month><year>2014</year></pub-date><volume>50</volume><issue>4</issue><elocation-id>10.1053/j.seminhematol.2013.09.001</elocation-id><abstract><p id="P2">Human genetic mosaicism is the presence of two or more cellular populations with distinct genotypes in an individual who developed from a single fertilized ovum. While initially observed across a spectrum of rare genetic disorders, detailed assessment of data from genome-wide association studies now reveal that detectable clonal mosaicism involving large structural alterations (> 2 Mb) can also be seen in populations of apparently healthy individuals. The first generation of descriptive studies have generated new interest in understanding the molecular basis of the affected genomic regions, percent of the cellular subpopulation involved, and developmental timing of the underlying mutational event, which could reveal new insights into the initiation, clonal expansion and phenotypic manifestations of mosaic events. Early evidence indicates detectable clonal mosaicism increases in frequency with age and could preferentially occur in males. The observed pattern of recurrent events affecting specific chromosomal regions indicates some regions are more susceptible to these events, which could reflect inter-individual differences in genomic stability. Moreover, it is also plausible that the presence of large structural events could be associated with cancer risk. The characterization of detectable genetic mosaicism reveals that there could be important dynamic changes in the human genome associated with the aging process, which could be associated with risk for common disorders, such as cancer, cardiovascular disease, diabetes, and neurological disorders.</p></abstract><kwd-group><kwd>aneuploidy</kwd><kwd>clonal expansion</kwd><kwd>copy-number</kwd><kwd>genome-wide association study</kwd><kwd>mutation</kwd></kwd-group><funding-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>ZIC CP010178-10 || CP</award-id></award-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>ZIC CP010178-09 || CP</award-id></award-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>ZIC CP010178-08 || CP</award-id></award-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>ZIA CP010201-02 || CP</award-id></award-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>ZIA CP010187-07 || CP</award-id></award-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>ZIA CP010187-06 || CP</award-id></award-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>ZIA CP010187-05 || CP</award-id></award-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>Z01 CP010178-07 || CP</award-id></award-group><award-group><funding-source country="United States">Division of Cancer Epidemiology and Genetics : NCI</funding-source><award-id>Z01 CP010178-06 || CP</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003396 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 003396 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.31. |  |