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ProteomicsMitochondrial dysfunction underlies cell cycle arrest and tubular hypoplasia in ClC-Kb-deficient Bartter syndrome mice
The pathogenesis of Bartter syndrome (BS) has long been attributed to decreased NaCl reabsorption in the thick ascending limb of Henle’s loop (TAL). By studying Clc-k2 (mouse ortholog of ClC-Kb)-knockout (Clc-k2-/-) mice, we recently uncovered an additional mechanism in which loss of transport funct...
ORGANISM(S): Mus musculus (Mouse) 
2026-07-09 | PXD069389 | Pride
Metabolism Clc-k2 Mitochondria Cell cycle Bartter syndrome type 3 
UnknownClinical and Genetic Spectrum of Bartter Syndrome Type 3.
Not available
S-EPMC5533235 | biostudies-literature
UnknownBartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen.
Not available
S-EPMC5989644 | biostudies-literature
ProteomicsDHHC7-mediated palmitoylation of barttin is a risk factor for Bartter syndrome
Chloride permeability in the thin and thick ascending limbs of the loop of Henle is a crucial component for urine concentration, with ClC-K/barttin chloride channels as a central component in establishing the cortico-medullary osmotic gradient. Barttin is an accessory subunit of human ClC-K channels...
ORGANISM(S): Mus musculus (Mouse) 
2020-03-31 | PXD017231 | Pride
Barttin Mass spectrometry Dhhc7 Palmitoylation Bartter syndrome Panimoni 
UnknownGenotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
Not available
S-EPMC10400606 | biostudies-literature
UnknownSplicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome.
Not available
S-EPMC7047732 | biostudies-literature
UnknownA mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report.
Not available
S-EPMC10149701 | biostudies-literature
ProteomicsAnalysis of the MAGED2 interactome
The MAGED2 interactome was analyzed in HEK293T cells using three different strategies.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-28 | MSV000080703 | MassIVE
TranscriptomicsDifferential gene expression between ERRa KO and WT mouse kidneys
Estrogen-related receptor (ERR) alpha is an orphan nuclear receptor highly expressed in the kidneys. ERRalpha is implicated in renal sodium and potassium homeostasis and blood pressure regulation. We used microarray analysis to identify differentially expressed genes in ERR alpha knockout mice kidne...
ORGANISM(S): Mus musculus 
2010-04-11 | E-GEOD-16623 | biostudies-arrayexpress
UnknownThe Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
Not available
S-EPMC9155595 | biostudies-literature
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