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10.1152/ajprenal.00410.2014

http://scihub22266oqcxt.onion/10.1152/ajprenal.00410.2014
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C4469887!4469887 !25834070
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suck abstract from ncbi

pmid25834070
      Am+J+Physiol+Renal+Physiol 2015 ; 308 (12 ): F1335-42
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  • Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis #MMPMID25834070
  • Davisson MT ; Cook SA ; Akeson EC ; Liu D ; Heffner C ; Gudis P ; Fairfield H ; Murray SA
  • Am J Physiol Renal Physiol 2015[Jun]; 308 (12 ): F1335-42 PMID25834070 show ga
  • Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis.
  • |Animals [MESH]
  • |Gene Expression Regulation, Developmental/*genetics [MESH]
  • |Hydronephrosis/*etiology/genetics [MESH]
  • |Kidney/*abnormalities/metabolism [MESH]
  • |Mice, Inbred C57BL [MESH]
  • |Mutation/*genetics [MESH]
  • |Organogenesis/genetics/*physiology [MESH]
  • |Transcription Factors/*genetics/metabolism [MESH]


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