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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2009-2-4
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pubmed:abstractText |
Human patients with aniridia caused by heterozygous PAX6 mutations display abnormal glucose metabolism, but the underlying molecular mechanism is largely unknown. Disturbed islet architecture has been proposed as the reason why mice with complete inactivation of paired box 6 (PAX6) in the pancreas develop diabetes. This is not, however, the case in human aniridia patients with heterozygous PAX6 deficiency and no apparent defects in pancreatic development. We investigated the molecular mechanism underlying the development of abnormal glucose metabolism in these patients.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1432-0428
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pubmed:author |
pubmed-author:ChenY YYY,
pubmed-author:DaiuSS,
pubmed-author:DingJJ,
pubmed-author:GayRR,
pubmed-author:GaySS,
pubmed-author:HongT PTP,
pubmed-author:LiL SLS,
pubmed-author:LiuY ZYZ,
pubmed-author:SáR MRM,
pubmed-author:SoniS LSL,
pubmed-author:WenJ HJH,
pubmed-author:YIMJ BJB,
pubmed-author:ZhangC YCY
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pubmed:issnType |
Electronic
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
504-13
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:19034419-Adolescent,
pubmed-meshheading:19034419-Adult,
pubmed-meshheading:19034419-Aged,
pubmed-meshheading:19034419-Animals,
pubmed-meshheading:19034419-Aniridia,
pubmed-meshheading:19034419-Child,
pubmed-meshheading:19034419-Eye Proteins,
pubmed-meshheading:19034419-Female,
pubmed-meshheading:19034419-Genotype,
pubmed-meshheading:19034419-Glucose,
pubmed-meshheading:19034419-Homeodomain Proteins,
pubmed-meshheading:19034419-Humans,
pubmed-meshheading:19034419-Insulin,
pubmed-meshheading:19034419-Male,
pubmed-meshheading:19034419-Mice,
pubmed-meshheading:19034419-Middle Aged,
pubmed-meshheading:19034419-Mutation,
pubmed-meshheading:19034419-Paired Box Transcription Factors,
pubmed-meshheading:19034419-Pedigree,
pubmed-meshheading:19034419-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:19034419-Proinsulin,
pubmed-meshheading:19034419-Proprotein Convertase 1,
pubmed-meshheading:19034419-Repressor Proteins
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pubmed:year |
2009
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pubmed:articleTitle |
Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).
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pubmed:affiliation |
Peking University Stem Cell Research Center, China-Australian Center of Excellence for Stem Cell Sciences, Beijing, People's Republic of China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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