Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.N76I
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UMOD

NM_003361.4:p.N76I

Associated Papers

Uromodulin: Roles in Health and Disease.

Schaeffer C et al.

Annual Review of Physiology, 2021

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O et al.

Nature Reviews. Nephrology, 2017

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

Trudu M et al.

Scientific Reports, 2017

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.

Piret SE et al.

Disease Models & Mechanisms, 2017

Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.

Hegde RN et al.

Tissue & Cell, 2017

Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD).

Kemter E et al.

Scientific Reports, 2017

No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease.

Kemter E et al.

The Journal of Biological Chemistry, 2014

Uromodulin retention in thick ascending limb of Henle's loop affects SCD1 in neighboring proximal tubule: renal transcriptome studies in mouse models of uromodulin-associated kidney disease.

Horsch M et al.

Plos One, 2014

Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.

Kemter E et al.

Human Molecular Genetics, 2013

Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis.

Wolf MT et al.

Kidney International, 2013

Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice.

Kemter E et al.

Plos One, 2013

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

Bernascone I et al.

Human Molecular Genetics, 2010

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Zaucke F et al.

Human Molecular Genetics, 2010

Uromodulin biology and pathophysiology--an update.

Vyletal P et al.

Kidney & Blood Pressure Research, 2010

Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism.

Kemter E et al.

American Journal of Physiology. Renal Physiology, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."