Results 251 to 260 of about 10,935,683 (291)

Interface Wettability Transition‐Driven Drug Release and Dual‐Phase Functionalization in Implant Abutment

open access: yesAdvanced Science, EarlyView.
A temporally controlled drug release coating is developed for abutments using a superhydrophobic coating self‐assembled on mesoporous silica. This surface provides sequential functionality: initial contamination resistance through non‐wetting, followed by controlled drug release via wettability transition.
Zhongchao Wang   +8 more
wiley   +1 more source

Dent′s disease and lowe′s syndrome: A phenotypic spectrum of one gene

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2010
Gupta Ankur   +4 more
doaj  

Update on Dent Disease.

Pediatric Clinics of North America, 2019
Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable.
Abdulla M Ehlayel, Lawrence Copelovitch
semanticscholar   +5 more sources

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2 [PDF]

open access: yesPediatric Nephrology, 2020
Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing.
N. Sakakibara   +11 more
semanticscholar   +5 more sources

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease

Clinical Genetics, 2020
Dent disease is a rare X‐linked recessive inherited tubular disease. In this multicenter study, the clinical presentation and genetic background of Chinese children with Dent disease are studied to improve the cognition and diagnostic ability of ...
Q. Ye   +18 more
semanticscholar   +3 more sources

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

Nature Reviews Nephrology, 2017
M. Matteis   +3 more
semanticscholar   +3 more sources

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.

International Journal of Biological Macromolecules, 2023
Dent disease is a rare renal tubular disease with X-linked recessive inheritance characterized by low molecular weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis. Mutations disrupting the 2Cl-/1H+ exchange activity of chloride voltage-gated
Yan Wang   +16 more
semanticscholar   +1 more source

Dent disease: classification, heterogeneity and diagnosis

World Journal of Pediatrics, 2020
Dent disease is a rare tubulopathy characterized by manifestations of proximal tubular dysfunction, which occurs almost exclusively in males. It mainly presents symptoms in early childhood and may progress to end-stage renal failure between the 3rd and 5th decades of human life. According to its various genetic basis and to clinical signs and symptoms,
Yan-Yan Jin   +3 more
semanticscholar   +3 more sources

A novel transgenic mouse model highlights molecular disruptions involved in the pathogenesis of Dent disease 1.

Gene
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 encoding the 2Cl-/H+exchanger ClC-5 have been identified in patients with DD ...
Imene Bouchra Sakhi   +12 more
semanticscholar   +1 more source

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