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■ Search Result - Abbreviation : ADTKD-UMOD

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Abbreviation: ADTKD-UMOD
Appearance Frequency: 6 time(s)
Long forms: 3

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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD
(3 times)
(1 time)
ER (2 times)
UMOD (2 times)
CKD (1 time)
2016 A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.
autosomal dominant tubulointerstitial kidney disease-uromodulin
(2 times)
(1 time)
ER (1 time)
FSGS (1 time)
TAL (1 time)
2017 Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.
Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations
(1 time)
ESKD (1 time)
2020 Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.