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Uwe boxed: Empowering students in the ‘real world’-providing responsible research and innovation opportunities through the boxed project (2018)
Journal Article
Bourne, K., Wilkinson, C., Bancroft, M., Robinson, G., Noel, C., Varadi, A., …Lewis, D. (2018). Uwe boxed: Empowering students in the ‘real world’-providing responsible research and innovation opportunities through the boxed project. Higher Education Pedagogies, 3(1), 451-462. https://doi.org/10.1080/23752696.2018.1462098

© 2017 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. The Faculty of Health and Applied Sciences at the University of the West of England, Bristol has been piloting a schools outreach project entitled BoxED (EDuc... Read More about Uwe boxed: Empowering students in the ‘real world’-providing responsible research and innovation opportunities through the boxed project.

Variants of the EAAT2 Glutamate Transporter Gene Promoter Are Associated with Cerebral Palsy in Preterm Infants (2017)
Journal Article
Rajatileka, S., Odd, D., Robinson, M. T., Spittle, A. C., Dwomoh, L., Williams, M., …Varadi, A. (2018). Variants of the EAAT2 Glutamate Transporter Gene Promoter Are Associated with Cerebral Palsy in Preterm Infants. Molecular Neurobiology, 55(3), 2013-2024. https://doi.org/10.1007/s12035-017-0462-1

© 2017, The Author(s). Preterm delivery is associated with neurodevelopmental impairment caused by environmental and genetic factors. Dysfunction of the excitatory amino acid transporter 2 (EAAT2) and the resultant impaired glutamate uptake can lead... Read More about Variants of the EAAT2 Glutamate Transporter Gene Promoter Are Associated with Cerebral Palsy in Preterm Infants.

Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR) (2016)
Journal Article
Sasse, J., Turner, A., Jurgen, S., & Varadi, A. (2016). Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR). BMC Medical Genetics, 17(1), https://doi.org/10.1186/s12881-016-0334-y

© 2016 The Author(s). Objectives: Inherited disorders of haemoglobin are the world's most common genetic diseases, resulting in significant morbidity and mortality. The large number of mutations associated with the haemoglobin beta gene (HBB) makes g... Read More about Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).

Association between neonatal resuscitation and a single nucleotide polymorphism rs1835740 (2016)
Journal Article
Váradi, A., Odd, D., Varadi, A., Rajatileka, S., Molnár, E., & Luyt, K. (2016). Association between neonatal resuscitation and a single nucleotide polymorphism rs1835740. Acta Paediatrica, 105(7), e307-e312. https://doi.org/10.1111/apa.13421

© 2016 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd. Aim The aim of this work was to test whether three single nucleotide polymorphisms (SNPs) implicated in glutamate homoeostasis or signalling and cellular survival are associated... Read More about Association between neonatal resuscitation and a single nucleotide polymorphism rs1835740.

Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR) (2015)
Journal Article
Turner, A., Sasse, J., & Varadi, A. (2015). Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR). BMC Medical Genetics, 16(1), https://doi.org/10.1186/s12881-015-0258-y

© 2015 Turner et al. Background: Deletions of the aα-globin genes are the most common genetic abnormalities in the world. Currently multiplex Gap-PCRs are frequently used to identify specific sets of common deletions. However, these assays require si... Read More about Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR).

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., …Varadi, A. (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.

Molecular mechanism of Myosin Va recruitment to dense core secretory granules (2012)
Journal Article
Váradi, A., Brozzi, F., Diraison, F., Lajus, S., Rajatileka, S., Philips, T., …Varadi, A. (2012). Molecular mechanism of Myosin Va recruitment to dense core secretory granules. Traffic, 13(1), 54-69. https://doi.org/10.1111/j.1600-0854.2011.01301.x

The brain-spliced isoform of Myosin Va (BR-MyoVa) plays an important role in the transport of dense core secretory granules (SGs) to the plasma membrane in hormone and neuropeptide-producing cells. The molecular composition of the protein complex tha... Read More about Molecular mechanism of Myosin Va recruitment to dense core secretory granules.

Translationally controlled tumour protein (TCTP) is a novel glucose-regulated protein that is important for survival of pancreatic beta cells (2011)
Journal Article
Varadi, A., Avent, N. D., Bommer, U. A., Francis, J. E., Hancock, J., Lajus, S., …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.

Myosin Va transports dense core secretory vesicles in pancreatic MIN6 β-cells (2005)
Journal Article
Varadi, A., Tsuboi, T., & Rutter, G. A. (2005). Myosin Va transports dense core secretory vesicles in pancreatic MIN6 β-cells. Molecular Biology of the Cell, 16(6), 2670-2680. https://doi.org/10.1091/mbc.E04-11-1001

The role of unconventional myosins in neuroendocrine cells is not fully understood, with involvement suggested in the movement of both secretory vesicles and mitochondria. Here, we demonstrate colocalization of myosin Va (MyoVa) with insulin in pancr... Read More about Myosin Va transports dense core secretory vesicles in pancreatic MIN6 β-cells.

Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1 (2004)
Journal Article
Varadi, A., Johnson-Cadwell, L. I., Cirulli, V., Yoon, Y., Allan, V. J., & Rutter, G. A. (2004). Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1. Journal of Cell Science, 117(19), 4389-4400. https://doi.org/10.1242/jcs.01299

While the subcellular organisation of mitochondria is likely to influence many aspects of cell physiology, its molecular control is poorly understood. Here, we have investigated the role of the retrograde motor protein complex, dynein-dynactin, in mi... Read More about Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1.

Involvement of conventional kinesin in glucose-stimulate secretory granule movements and exocytosis in clonal pancreatic β-cells (2002)
Journal Article
Ainscow, E. K., Varadi, A., Ainscow, E., Allan, V. J., & Rutter, G. A. (2002). Involvement of conventional kinesin in glucose-stimulate secretory granule movements and exocytosis in clonal pancreatic β-cells. Journal of Cell Science, 115(21), 4177-4189. https://doi.org/10.1242/jcs.00083

Recruitment of secretory vesicles to the cell surface is essential for the sustained secretion of insulin in response to glucose. At present, the molecular motors involved in this movement, and the mechanisms whereby they may be regulated, are undefi... Read More about Involvement of conventional kinesin in glucose-stimulate secretory granule movements and exocytosis in clonal pancreatic β-cells.

Dynamic imaging of endoplasmic reticulum Ca2+ concentration in insulin-secreting MIN6 cells using recombinant targeted cameleons: Roles of sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA)-2 and ryanodine receptors (2002)
Journal Article
Varadi, A., & Rutter, G. A. (2002). Dynamic imaging of endoplasmic reticulum Ca2+ concentration in insulin-secreting MIN6 cells using recombinant targeted cameleons: Roles of sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA)-2 and ryanodine receptors. Diabetes, 51(S1), 190-201. https://doi.org/10.2337/diabetes.51.2007.S190

The endoplasmic reticulum (ER) plays a pivotal role in the regulation of cytosolic Ca2+ concentrations ([Ca2+]cyt) and hence in insulin secretion from pancreatic β-cells. However, the molecular mechanisms involved in both the uptake and release of Ca... Read More about Dynamic imaging of endoplasmic reticulum Ca2+ concentration in insulin-secreting MIN6 cells using recombinant targeted cameleons: Roles of sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA)-2 and ryanodine receptors.


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