EndoMAP.v1 charts the structural landscape of human early endosome complexes. [PDF]
NatureGonzalez-Lozano MA +6 more
europepmc +1 more source
Functional and Transport Analysis of CLCN5 Mutations Found in Dent Disease Patients
The FASEB Journal, 2015 MinHwang Chang +4 more
openaire +1 more source
GENETIC ANALYSIS IN DENT DISEASE AND FUNCTIONAL STUDIES OF CLCN5 MUTATIONS IN PATIENTS’ KIDNEY BIOPSIES [PDF]
, 2019 Dorella Del Prete +4 more
core +1 more source
4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1. [PDF]
Int J Mol SciPerdomo-Ramírez A +6 more
europepmc +1 more source
Clinical characteristics of nephrocalcinosis in a tertiary children's hospital. [PDF]
Front PediatrZheng J, Cao J, Chen L, Xia X.
europepmc +1 more source
An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome. [PDF]
Kidney MedYoshida R +7 more
europepmc +1 more source
Genetic screening in kidney transplant candidates. [PDF]
Clin Kidney JLe Moal P +10 more
europepmc +1 more source
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1Background In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases. We reproduced gene mutations by mutagenesis, inserted the mutated genes into minigene vectors, and investigated the ...
openaire
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis. [PDF]
Sci RepJeong HE +8 more
europepmc +1 more source
Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria. [PDF]
Pediatr NephrolSakakibara N, Nozu K.
europepmc +1 more source