Outputs (15)

Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: Comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing (2014)
Journal Article
Váradi, A., Rajatileka, S., Luyt, K., Williams, M., Harding, D., Odd, D., & Molnár, E. (2014). Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: Comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing. BMC Genetics, 15, https://doi.org/10.1186/1471-2156-15-80

Background: Single-strand conformational polymorphism (SSCP) is still a frequently used genotyping method across different fields for the detection of single nucleotide polymorphisms (SNPs) due to its simplicity, requirement for basic equipment acces... Read More about Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: Comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing.

Hb fontainebleau (hba2: C.64g>c) in the united arab emirates (2014)
Journal Article
Turner, A., Sasse, J., & Varadi, A. (2014). Hb fontainebleau (hba2: C.64g>c) in the united arab emirates. Hemoglobin, 38(3), 216-220. https://doi.org/10.3109/03630269.2014.912221

Hb Fontainebleau (HBA2: c.64G>C) is a rare α-globin variant, which has previously been described in only 10 individuals worldwide. We report here 12 additional cases identified in our laboratory. These included the first case of a homozygosity for Hb... Read More about Hb fontainebleau (hba2: C.64g>c) in the united arab emirates.

Isolation of human genomic DNA for genetic analysis from premature neonates: A comparison between newborn dried blood spots, whole blood and umbilical cord tissue (2013)
Journal Article
Váradi, A., Molnár, E., Rajatileka, S., Luyt, K., El-Bokle, M., Williams, M., …Varadi, A. (2013). Isolation of human genomic DNA for genetic analysis from premature neonates: A comparison between newborn dried blood spots, whole blood and umbilical cord tissue. BMC Genetics, 14(105), https://doi.org/10.1186/1471-2156-14-105

Background: Genotyping requires biological sample collection that must be reliable, convenient and acceptable for patients and clinicians. Finding the most optimal procedure of sample collection for premature neonates who have a very limited blood vo... Read More about Isolation of human genomic DNA for genetic analysis from premature neonates: A comparison between newborn dried blood spots, whole blood and umbilical cord tissue.

MyRIP interaction with MyoVa on secretory granules is controlled by the cAMP-PKA pathway (2012)
Journal Article
Brozzi, F., Lajus, S., Diraison, F., Rajatileka, S., Hayward, K., Regazzi, R., …Varadi, A. (2012). MyRIP interaction with MyoVa on secretory granules is controlled by the cAMP-PKA pathway. Molecular Biology of the Cell, 23(22), 4444-4455. https://doi.org/10.1091/mbc.E12-05-0369

Myosin- and Rab-interacting protein (MyRIP), which belongs to the protein kinase A (PKA)–anchoring family, is implicated in hormone secretion. However, its mechanism of action is not fully elucidated. Here we investigate the role of MyRIP in myosin V... Read More about MyRIP interaction with MyoVa on secretory granules is controlled by the cAMP-PKA pathway.

Translationally controlled tumour protein (TCTP) is a novel glucose-regulated protein that is important for survival of pancreatic beta cells (2011)
Journal Article
Avent, N. D., Bommer, U. A., Diraison, F., Hayward, K., Sanders, K. L., Brozzi, F., …Varadi, A. (2011). Translationally controlled tumour protein (TCTP) is a novel glucose-regulated protein that is important for survival of pancreatic beta cells. Diabetologia, 54(2), 368-379. https://doi.org/10.1007/s00125-010-1958-7

Aims/hypothesis: This study used proteomics and biochemical approaches to identify novel glucose-regulated proteins and to unveil their role in pancreatic beta cell function. Translationally controlled tumour protein (TCTP) was identified to be one s... Read More about Translationally controlled tumour protein (TCTP) is a novel glucose-regulated protein that is important for survival of pancreatic beta cells.