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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2001-2-22
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pubmed:abstractText |
Oligomeganephronia (OMN) is a rare congenital and usually sporadic anomaly. It is characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons. The mechanisms involved in this deficient nephrogenesis are unknown. The paired box transcription factor PAX2 plays a fundamental role in renal development. Heterozygous Pax2 mutants in mice are characterized by renal hypoplasia and retinal defects, and in humans, PAX2 mutations have been described in the renal-coloboma syndrome.
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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 |
Feb
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pubmed:issn |
0085-2538
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
457-62
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11168927-Adolescent,
pubmed-meshheading:11168927-Adult,
pubmed-meshheading:11168927-Aged,
pubmed-meshheading:11168927-Base Sequence,
pubmed-meshheading:11168927-Child,
pubmed-meshheading:11168927-Child, Preschool,
pubmed-meshheading:11168927-Coloboma,
pubmed-meshheading:11168927-DNA-Binding Proteins,
pubmed-meshheading:11168927-Heterozygote,
pubmed-meshheading:11168927-Humans,
pubmed-meshheading:11168927-Kidney,
pubmed-meshheading:11168927-Middle Aged,
pubmed-meshheading:11168927-Molecular Sequence Data,
pubmed-meshheading:11168927-Mutation,
pubmed-meshheading:11168927-Optic Disk,
pubmed-meshheading:11168927-Optic Nerve,
pubmed-meshheading:11168927-PAX2 Transcription Factor,
pubmed-meshheading:11168927-Transcription Factors
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pubmed:year |
2001
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pubmed:articleTitle |
PAX2 mutations in oligomeganephronia.
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pubmed:affiliation |
Pediatric Nephrologic Department, Necker-Enfants Malades Hospital, Paris, France. salomon@necker.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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