V Khare, S Cherqui - Kidney International, 2024 - Elsevier
Chronic kidney disease (CKD) is one of the leading causes of mortality worldwide because of kidney failure and the associated challenges of its treatment including dialysis and kidney …
Y Wang, L Xu, Y Zhang, H Fu, L Gao, Y Guan… - International Journal of …, 2024 - Elsevier
Dent disease is a rare renal tubular disease with X-linked recessive inheritance characterized by low molecular weight proteinuria (LMWP), hypercalciuria, and …
IB Sakhi, E De Combiens, N Frachon, F Durussel… - Gene, 2024 - Elsevier
Dent disease (DD) is a hereditary renal disorder characterized by low molecular weight (LMW) proteinuria and progressive renal failure. Inactivating mutations of the CLCN5 gene …
A Perdomo-Ramírez, E Ramos-Trujillo… - International Journal of …, 2024 - mdpi.com
Dent disease-1 (DD-1) is a rare X-linked tubular disorder characterized by low-molecular- weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and nephrocalcinosis. This …
P Lyu, MK Yadav, KW Yoo, C Jiang, Q Li, A Atala, B Lu - Gene Therapy, 2024 - nature.com
Dent disease type 1 is caused by changes in the chloride voltage-gated channel 5 (CLCN5) gene on chromosome X, resulting in the lack or dysfunction of chloride channel ClC-5 …
M Durán, G Ariceta, ME Semidey… - Life Science …, 2024 - life-science-alliance.org
Mutations in Cl−/H+ antiporter ClC-5 cause Dent's disease type 1 (DD1), a rare tubulopathy that progresses to renal fibrosis and kidney failure. Here, we have used DD1 human cellular …
E de Combiens, IB Sakhi, S Lourdel - Genes, 2024 - mdpi.com
Dent disease type 1 is a rare X-linked recessive inherited renal disorder affecting mainly young males, generally leading to end-stage renal failure and for which there is no cure. It is …
N Murphey, C Authement, P Hillman… - Frontiers in …, 2024 - frontiersin.org
Dent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5. Affected males typically develop …
E de Combiens, IB Sakhi, S Lourdel - 2024 - preprints.org
Dent disease type 1 is a rare inherited renal disorder affecting mainly young males, generally leading to end-stage renal failure and for which there is no cure. It is caused by …