Results 101 to 110 of about 1,469 (156)

Clinical characteristics of nephrocalcinosis in a tertiary children's hospital. [PDF]

Front Pediatr
Zheng 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 Med
Yoshida R, Hosokawa M, Ukawa T, Tsurisawa C, Hisaeda Y, Amagata S, Takeda T, Nakao A.   +7 more
europepmc   +1 more source

Functional and Transport Analysis of CLCN5 Mutations Found in Dent Disease Patients

The FASEB Journal, 2015
MinHwang Chang, Matthew Brown, Xiaojing Tang, John Lieske, Michael Romero   +4 more
openaire   +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 Sci
Perdomo-Ramírez A, Ramos-Trujillo E, Machado JD, García-Nieto V, Mura-Escorche G, Claverie-Martin F, RenalTube Group.   +6 more
europepmc   +1 more source

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis. [PDF]

Sci Rep
Jeong HE, Kim KH, Kim Y, Yu HY, Shin DM, Kim OH, Kim BJ, Park MH, Kim J.   +8 more
europepmc   +1 more source

Genetic screening in kidney transplant candidates. [PDF]

Clin Kidney J
Le Moal P, Knebelmann B, Hummel A, Gribouval O, Anglicheau D, Legendre C, Morinière V, Heidet L, Dorval G, Antignac C, Servais A.   +10 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 Nephrol
Sakakibara N, Nozu K.
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 1
Background 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  

PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing. [PDF]

Invest Ophthalmol Vis Sci
Sun X, Liang Y, Liang Y, Li W, Chen H, Ding C, Duan C, Zhou Y, Zhang R, Xu H, Chen J.   +10 more
europepmc   +1 more source

In Silico Analysis: Molecular Characterization and Evolutionary Study of CLCN Gene Family in Buffalo. [PDF]

Genes (Basel)
Fu Y, Khan MF, Wang Y, Parveen S, Sultana M, Liu Q, Shafique L.   +6 more
europepmc   +1 more source