Transcriptomics,Genomics

Dataset Information

46

Transcriptional profiling of kidneys from ADTKD-UMOD mouse model


ABSTRACT: To gain insight into autosomal dominant tubulointerstitial kidney disease (ADTKD)-uromodulin (UMOD) pathophysiology, we carried out transcriptional profiling of kidneys from 1- and 2-month-old TgUmodC147W mice, a transgenic model that recapitulates the main features of the disease, and TgUmodwt mice, a matched transgenic control of Umod overexpression. These time points correspond to presymptomatic stages that precede renal dysfunction in TgUmodC147W mice. Overall design: Total RNA obtained from kidneys of mice at different ages carrying either wild type or mutant Umod transgene.

INSTRUMENT(S): Illumina MouseWG-6 v2.0 expression beadchip

SUBMITTER: Michela Riba  

PROVIDER: GSE97093 | GEO | 2017-08-18

SECONDARY ACCESSION(S): PRJNA380658

REPOSITORIES: GEO

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Publications

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.

Trudu Matteo M   Schaeffer Celine C   Riba Michela M   Ikehata Masami M   Brambilla Paola P   Messa Piergiorgio P   Martinelli-Boneschi Filippo F   Rastaldi Maria Pia MP   Rampoldi Luca L  

Scientific reports 20170807 1


Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an inherited disorder that causes progressive kidney damage and renal failure. Mutations in the UMOD gene, encoding uromodulin, lead to ADTKD-UMOD related. Uromodulin is a GPI-anchored protein exclusively produced by epithelial cells of the thick ascending limb of Henle's loop. It is released in the tubular lumen after proteolytic cleavage and represents the most abundant protein in human urine in physiological condition. We previou  ...[more]

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