Results 111 to 120 of about 1,497 (161)

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

Proximity Labeling Reveals How Lrp2 Interacts with the Endocytic Machine. [PDF]

J Proteome Res
Shen TH, Beenken A, Erdjument-Bromage H, Weisz OA, Ghotra A, Kushner JS, Sturley RE, Kahn A, Kronenberg L, Rahmani G, Nesanir K, High FA, Donahoe PK, Barasch J, Neubert TA.   +14 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

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

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

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

Spatial transcriptomics uncovers TAC-OGEs heterogeneity and FN1/MMP9 signature in ameloblastoma. [PDF]

Front Immunol
Wang Y, Li H, Zhang C, Peng X, Liu J, Du W, Yu Y, Hou Y, Li X.   +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 Nephrol
Sakakibara N, Nozu K.
europepmc   +1 more source

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