Results 111 to 120 of about 2,467 (196)

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

Nephrocalcinosis – latest reports on risk factors

Pediatria Polska
This review synthesises recent discoveries in the risk factors of nephrocalcinosis, with a particular focus on novel findings. Nephrocalcinosis, characterised by the deposition of calcium salts in the renal parenchyma, is linked to a variety of genetic ...
Tomasz Dudzik, Łucja Dudzik, Igor Domański, Aleksandra Kozieł, Paulina Wójcik, Natalia Kuderska   +5 more
doaj   +1 more source

Drug-induced renal Fanconi syndrome [PDF]

, 2016
A number of therapeutic drugs are toxic to the kidney proximal tubule (PT) and can cause the renal Fanconi syndrome (FS). The most frequently implicated drugs are cisplatin, ifosfamide, tenofovir, sodium valproate and aminoglycoside antibiotics, and the ...
Bass, P., Hall, A.M., Unwin, R.J.
core  

Nephrocalcinosis: the latest reports on risk factors – a review

Pediatria Polska
This review synthesizes recent discoveries in the risk factors of nephrocalcinosis, with a particular focus on novel findings. Nephrocalcinosis, characterized by the deposition of calcium salts in the renal parenchyma, is linked to a variety of genetic ...
Tomasz Dudzik, Łucja Dudzik, Igor Domański, Aleksandra Kozieł, Paulina Wójcik, Natalia Kuderska   +5 more
doaj   +1 more source

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS.
Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima   +17 more
doaj   +1 more source

Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

Journal of Medical Case Reports, 2011
Introduction Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Ludwig Michael, Pavicevic Snezana, Samardzic Mira, Bogdanovic Radovan   +3 more
doaj   +1 more source

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

Kidney International, 1997
The annual urinary screening of Japanese children above three years of age has identified a progressive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. The disorder has been observed in over 60 patients and has a familial predisposition.
Akuta, N, Lloyd, SE, Igarashi, T, Shiraga, H, Matsuyama, T, Yokoro, S, Cox, J, Thakker, R   +7 more
openaire   +3 more sources

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  

Long-term recombinant human growth hormone therapy in Dent’s disease type 1

Endokrynologia Polska
Not required for Clinical Vignette.
Miao Huang, Guoqing Dong, Yongmei Zeng, Fan Wu, Peipei Liu, Xiyan Lu   +5 more
doaj   +1 more source