Results 51 to 60 of about 2,467 (196)
Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]
, 2016 Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira +17 more
core +1 more source
Replenishment of microRNA-188-5p restores the synaptic and cognitive deficits in 5XFAD Mouse Model of Alzheimer’s Disease [PDF]
, 2016 MicroRNAs have emerged as key factors in development, neurogenesis and synaptic functions in the central nervous system. In the present study, we investigated a pathophysiological significance of microRNA-188-5p (miR-188-5p) in Alzheimer’s disease (AD ...
An, Kyongman +10 more
core +5 more sources
Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports
Frontiers in Medicine, 2018 Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis,
Min Wen +10 more
doaj +1 more source
Hyperthermia in the course of tetany in a child with Dent’s disease – case report
Pediatria Polska, 2023 Tetany is a condition in which serum electrolyte disturbances lead to increased neuronal excitability. We describe a case of life-threatening tetany in a 2.5-year-old boy with Dent’s disease linked with the CLCN5 gene.
Beata Banaszak +3 more
doaj +1 more source
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
core +1 more source
Nefrología (English Edition), 2023 Background and objectives: Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction, hypercalciuria, nephrolithiasis/nephrocalcinosis, progressive chronic ...
Carla Burballa +5 more
doaj +1 more source
Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array. [PDF]
, 2010 Genetic determinants of blood pressure are poorly defined. We undertook a large-scale, gene-centric analysis to identify loci and pathways associated with ambulatory systolic and diastolic blood pressure.
Braund, P.S. +20 more
core +2 more sources
Dent Disease Type 1: Still an Under-Recognized Renal Proximal Tubulopathy: A Case Report
Reports, 2022 Dent disease is a rare renal tubular disorder that appears almost exclusively in males. The diagnosis is still challenging, and therefore Dent disease is occasionally misdiagnosed.
Monika Vitkauskaitė +2 more
doaj +1 more source
Canalopatias em endocrinologia: achados genéticos recentes e fisiopatologia [PDF]
, 2010 Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell motility and growth, volume ...
Chiamolera, Maria Izabel +7 more
core +2 more sources
Orphanet Journal of Rare Diseases, 2010 Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure.
Thakker Rajesh V, Devuyst Olivier
doaj +1 more source