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Article

A variant OSR1 allele which disturbs OSR1 mRNA expression in renal progenitor cells is associated with reduction of newborn kidney size and function.

Human molecular genetics - 1 Nov 2011

Zhang Zhao, Iglesias Diana, Eliopoulos Nicoletta, El Kares Reyhan, Chu LeeLee, Romagnani Paola, Goodyer Paul

Abstract excerpt

Human nephrons are formed during fetal life through an interaction between the branching ureteric bud and progenitor cells. The wide variation in final nephron number has been attributed to allelic variants of genes regulating ureteric bud arborization. Here, we hypothesize that dysfunctional variants of the Odd-Skipped Related 1 (OSR1) gene which compromise the renal progenitor cell pool might also limit newborn...

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Identifiers

PMID: 21821672
DOI: 10.1093/hmg/ddr341

Genes

OSR1
PAX2
RET

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