Hereditary forms of intrahepatic cholestasis.
Identifieur interne : 004549 ( PubMed/Curation ); précédent : 004548; suivant : 004550Hereditary forms of intrahepatic cholestasis.
Auteurs : Laura N. Bull [États-Unis]Source :
- Current opinion in genetics & development [ 0959-437X ] ; 2002.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- genetics : Alagille Syndrome, Cholestasis, Intrahepatic, Lymphedema.
- Animals, Chromosome Mapping, Humans.
Abstract
Several genes that are mutated in hereditary forms of intrahepatic cholestasis have been identified or mapped, providing new insights into the process of enterohepatic bile acid circulation in health and disease and new tools with which to study this process. Murine models of several of these disorders have been generated. Unanticipated genetic heterogeneity has been identified.
PubMed: 12076678
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Bull</name><affiliation wicri:level="1"><nlm:affiliation>Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California 94110, USA. lbull@medsfgh.ucsf.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California 94110</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:12076678</idno><idno type="pmid">12076678</idno><idno type="wicri:Area/PubMed/Corpus">004549</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004549</idno><idno type="wicri:Area/PubMed/Curation">004549</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004549</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Hereditary forms of intrahepatic cholestasis.</title><author><name sortKey="Bull, Laura N" sort="Bull, Laura N" uniqKey="Bull L" first="Laura N" last="Bull">Laura N. Bull</name><affiliation wicri:level="1"><nlm:affiliation>Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California 94110, USA. lbull@medsfgh.ucsf.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California 94110</wicri:regionArea></affiliation></author></analytic><series><title level="j">Current opinion in genetics & development</title><idno type="ISSN">0959-437X</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alagille Syndrome (genetics)</term><term>Animals</term><term>Cholestasis, Intrahepatic (genetics)</term><term>Chromosome Mapping</term><term>Humans</term><term>Lymphedema (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Cartographie chromosomique</term><term>Cholestase intrahépatique (génétique)</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Syndrome d'Alagille (génétique)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Alagille Syndrome</term><term>Cholestasis, Intrahepatic</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cholestase intrahépatique</term><term>Lymphoedème</term><term>Syndrome d'Alagille</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Chromosome Mapping</term><term>Humans</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Cartographie chromosomique</term><term>Humains</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Several genes that are mutated in hereditary forms of intrahepatic cholestasis have been identified or mapped, providing new insights into the process of enterohepatic bile acid circulation in health and disease and new tools with which to study this process. Murine models of several of these disorders have been generated. Unanticipated genetic heterogeneity has been identified.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">12076678</PMID><DateCreated><Year>2002</Year><Month>06</Month><Day>21</Day></DateCreated><DateCompleted><Year>2002</Year><Month>12</Month><Day>03</Day></DateCompleted><DateRevised><Year>2007</Year><Month>11</Month><Day>14</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0959-437X</ISSN><JournalIssue CitedMedium="Print"><Volume>12</Volume><Issue>3</Issue><PubDate><Year>2002</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Current opinion in genetics & development</Title><ISOAbbreviation>Curr. Opin. Genet. 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Unanticipated genetic heterogeneity has been identified.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bull</LastName><ForeName>Laura N</ForeName><Initials>LN</Initials><AffiliationInfo><Affiliation>Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California 94110, USA. lbull@medsfgh.ucsf.edu</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 DK50697</GrantID><Acronym>DK</Acronym><Agency>NIDDK NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 DK58214</GrantID><Acronym>DK</Acronym><Agency>NIDDK NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Curr Opin Genet Dev</MedlineTA><NlmUniqueID>9111375</NlmUniqueID><ISSNLinking>0959-437X</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D016738" MajorTopicYN="N">Alagille Syndrome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000818" MajorTopicYN="N">Animals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002780" MajorTopicYN="N">Cholestasis, Intrahepatic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002874" MajorTopicYN="N">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading></MeshHeadingList><NumberOfReferences>62</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>6</Month><Day>22</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>12</Month><Day>4</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>6</Month><Day>22</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12076678</ArticleId><ArticleId IdType="pii">S0959437X02003076</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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