Results 101 to 110 of about 2,184 (189)

Physiological implications of the regulation of vacuolar H+-ATPase by chloride ions [PDF]

, 2009
Vacuolar H+-ATPase is a large multi-subunit protein that mediates ATP-driven vectorial H+ transport across the membranes. It is widely distributed and present in virtually all eukaryotic cells in intracellular membranes or in the plasma membrane of ...
CARRARO-LACROIX, L.R., FERNANDEZ, R., LESSA, L.M.A., MALNIC, G.   +3 more
core   +2 more sources

Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry

Frontiers in Pediatrics, 2018
Background: Steroid resistant nephrotic syndrome (SRNS) is a rare condition, accounting for 10–15% of all children with idiopathic nephrotic syndrome. SRNS can be caused by genetic abnormalities or immune system dysfunction.
Agnes Trautmann, Beata S. Lipska-Ziętkiewicz, Franz Schaefer   +2 more
doaj   +1 more source

From Oxidative Stress Damage to Pathways, Networks, and Autophagy via MicroRNAs. [PDF]

, 2018
Oxidative stress can alter the expression level of many microRNAs (miRNAs), but how these changes are integrated and related to oxidative stress responses is poorly understood. In this article, we addressed this question by using in silico tools.
\u17derovnik, E, Albertini, Mc., Betti, M, Engedal, N, Galli, F, Monsurr\uf2, V, Olivieri, F, Procopio, Ad, Rippo, Mr, Rudov, A   +9 more
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Characterisation of microRNAs in Human Stem Cells

, 2009
In collaboration with David Baulcombe and Attila Molnar we have generated microRNA libraries for human embryonic stem cells (hESCs) before and after differentiation along the neuronal lineage and also from human mesenchymal stem cells (hMSCs).
Chan, Elcie, Chan, Elcie
core   +1 more source

Dent–Wrong disease and other rare causes of the Fanconi syndrome [PDF]

, 2014
Dent–Wrong disease, an X-linked recessive disorder of the proximal tubules, presents with hypercalciuria, nephrocalcinosis, nephrolithiasis, renal insufficiency, low-molecular-weight proteinuria, rickets and/or osteomalacia.
Ing, Todd S., Lew, Susie Q., Solano, Alejandro   +2 more
core   +3 more sources

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome [PDF]

, 2018
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome.
Ashraf, S, Bakkaloglu, SA, Baum, M, Benador, N, Bockenhauer, D, Bogdanovic, R, Braun, DA, Buscher, R, Cadnapaphornchai, MA, Chen, J, Chernin, G, Daga, A, Daouk, G, El Desoky, S, Ettenger, R, Fathy, H, Fehrenbach, H, Ferguson, MA, Gee, HY, Hashmi, S, Hermle, T, Hildebrandt, F, Hopcian, J, Ityel, H, Jobst-Schwan, T, Kari, JA, Kemper, M, Kohl, S, Kopp, JB, Lawson, JA, Lifton, RP, Lovric, S, Majmundar, AJ, Mane, S, Mueller, D, Munarriz, RL, Nakayama, M, Noyan, A, Ozaltin, F, Pabst, WL, Podracka, L, Rao, J, Rodig, NM, Sadowski, CE, Schapiro, D, Schmidt, JM, Schneider, R, Serdaroglu, E, Shril, S, Soliman, NA, Somers, MJG, Stajic, N, Stein, DR, Tan, W, Tasic, V, Traum, AZ, van der Ven, AT, Vivante, A, Warejko, JK, Widmeier, E, Zenker, M   +60 more
core  

miR-153 promotes neural differentiation by activating the cell adhesion/Ca2+ signaling pathway and targeting ion channel activity in HT-22 cells by bioinformatic analysis

Heliyon
MicroRNAs have been studied extensively in neurodegenerative diseases. In a previous study, miR-153 promoted neural differentiation and projection formation in mouse hippocampal HT-22 cells.
Li Jiao, Zhang Junfang, Li Yanna, Jin Caixia, Zhang Chen, Jia Song, Xu Jie, Yan Xiaoli, Gui Xin, Xing Libo, Wang Feng, Lu lixia, Xu Chunli, Xu Lei   +13 more
doaj   +1 more source

Update on the genetics of nephrolithiasis [PDF]

Genetic studies of calcium kidney stones evidenced the possible involvement of calcium-sensing receptor gene, vitamin D receptor gene and bicarbonate-sensitive adenylate cyclase gene, but it is uncertain which specific polymorphisms could be responsible.
Arcidiacono, Teresa, Biasion, Rita, Paloschi, Vera, Soldati, Laura, Terranegra, Annalisa, Vezzoli, Giuseppe   +5 more
core  

TTF-1-regulated miR-532-5p targets KRAS and MKL2 oncogenes and induces　apoptosis in lung adenocarcinoma cells [PDF]

, 2017
名古屋大学Nagoya University博士(医学)doctoral ...
73345, Sebastian, Griesing
core  

The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases : [Case report] [PDF]

Dent disease type 1 is characterized by pathogenic CLCN5 gene variants and impaired receptor-mediated endocytosis in proximal tubules. However, mutation-related abnormalities in proximal tubules have not yet been described.
Bereczki Csaba, Iványi Béla, Jakab Dániel, Kalmár Tibor, Lakatos Orsolya Judit, Maróti Zoltán, Vas Tibor   +6 more
core   +1 more source