Abstract
PAX genes play an important role in fetal development. Moreover, heterozygous mutations in several PAX genes cause human disease. Here we review the role of PAX2 in kidney development, focusing on the morphological effects of PAX2 mutations. We discuss the role of PAX2 in the context of an inhibitory field model of kidney branching morphogenesis and summarize recent progress in this area.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Apoptosis
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Coloboma / complications*
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DNA-Binding Proteins / biosynthesis*
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DNA-Binding Proteins / physiology*
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Female
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Gene Expression Regulation, Developmental*
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Heterozygote
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Homozygote
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Humans
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Immunohistochemistry
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Kidney / abnormalities
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Kidney / embryology*
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Kidney / metabolism
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Male
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Mice
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Microscopy, Fluorescence
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Models, Biological
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Models, Genetic
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Mutation
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Oligonucleotide Array Sequence Analysis
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Oviducts / metabolism
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PAX2 Transcription Factor
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Syndrome
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Transcription Factors / biosynthesis*
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Transcription Factors / physiology*
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Urogenital System / embryology*
Substances
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DNA-Binding Proteins
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PAX2 Transcription Factor
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PAX2 protein, human
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Pax2 protein, mouse
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Transcription Factors