Results 121 to 130 of about 2,467 (196)

The oculocerebrorenal syndrome of Lowe: an update [PDF]

, 2016

core   +1 more source

Dent’s disease: case series from a single center

The Turkish Journal of Pediatrics
Background. Dent’s disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease.
Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A. Bakkaloğlu, Oğuz Söylemezoğlu   +5 more
doaj   +1 more source

Caractérisation des canaux potassiques du tubule contourné proximal et des propriétés régulatrices des canaux chlorure de la membrane basolatérale des cellules intercalaires du tubule connecteur [PDF]

, 2015
A 10 pS chloride channel at the basolateral side of connecting duct intercalated cells shares properties with the cloned ClC-K2 channel. Patch-clamp experiments show that its activity and the number of active channels increase with (i) membrane ...
Pinelli, Laurent
core   +2 more sources

Prognostic and biologic significance of long non-coding RNA profiling in younger adults with cytogenetically normal acute myeloid leukemia [PDF]

, 2017
et al.,, Uy, Geoffrey L
core   +2 more sources

CLCN5 inhibits tumorigenesis and fatty acid accumulation in clear cell renal cell carcinoma by regulating Enoyl CoA hydratase and 3-Hydroxyacyl CoA dehydrogenase. [PDF]

Int J Med Sci
Yu T, Li W, Meng X, Yang W, Ruan H, Xiao W, Zhang X.   +6 more
europepmc   +1 more source

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report. [PDF]

Case Rep Nephrol Dial
Del Prete D, Ceol M, Giannella A, Ceolotto G, Sgrò E, Priante G, Fedrigo M, Anglani F, Nalesso F.   +8 more
europepmc   +1 more source

Genetic background of infantile hypophosphatemia: a narrative review. [PDF]

Transl Pediatr
Zeng X, Hu L.
europepmc   +1 more source

Phenotype and genotype analyses of 21 Chinese patients with Dent disease. [PDF]

J Biomed Res
Che R, Cai Y, Zhou W, Zhao S, Huang S.
europepmc   +1 more source

Bioinformatics analysis of a <i>CLCN5</i> geneframeshift mutation in a patient with Dent disease. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Zhang Y, Li N, Fan L, Liu J.
europepmc   +1 more source

Activation of PDGF Signaling in the Adult Muscle Stem Cell Niche in Patients With Type 2 Diabetes Mellitus. [PDF]

J Clin Endocrinol Metab, 2023
Fahrner A, Alchus Laiferová N, Ukropcová B, Ukropec J, Krützfeldt J.   +4 more
europepmc   +1 more source