Results 141 to 150 of about 2,184 (189)

Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.

, 2016
Lloyd, SE, Pearce, S, Thomson, A, Bianchi, M, Craig, I, Fisher, S, Scheinman, S, Wrong, O, Thakker, R   +8 more
openaire   +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

EndoMAP.v1 charts the structural landscape of human early endosome complexes. [PDF]

Nature
Gonzalez-Lozano MA, Schmid EW, Miguel Whelan E, Jiang Y, Paulo JA, Walter JC, Harper JW.   +6 more
europepmc   +1 more source

Gene modification: Exploring the potential in treating kidney diseases. [PDF]

Pharmacol Res
Ekperikpe US, Zhao S, Daehn IS.
europepmc   +1 more source

Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience. [PDF]

Genes (Basel)
Rusu EE, Sorohan BM, Pandele R, Popescu A, Bobeica R, Balanica S, Zilisteanu DS, Iordache A, Lungu A, Ismail G.   +9 more
europepmc   +1 more source

Therapeutic Insights and Immune Pathway Connections Revealed by Core Symptom Gene Network Analysis in Ankylosing Spondylitis. [PDF]

Curr Issues Mol Biol
Choi Y, Kim MH, Kim DY.
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

Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review. [PDF]

J Int Med Res
Mao Y, Zhang C, Zhou Z, Zhou W, Yin L.
europepmc   +1 more source

Renal antiporter ClC-5 regulates collagen I/IV through the β-catenin pathway and lysosomal degradation. [PDF]

Life Sci Alliance
Durán M, Ariceta G, Semidey ME, Castells-Esteve C, Casal-Pardo A, Lu B, Meseguer A, Cantero-Recasens G.   +7 more
europepmc   +1 more source

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease. [PDF]

Clin Kidney J
Bi J, Guo W, Ji P, Li S, Wang P, Li Q, Xie Y.   +6 more
europepmc   +1 more source