Zobrazeno 1 - 10
of 356
pro vyhledávání: '"J. van Bergen"'
Autor:
Massey, Sean, Ang, Ching-Seng, Davidson, Nadia M., Quigley, Anita, Rollo, Ben, Harris, Alexander R., Kapsa, Robert M. I., Christodoulou, John, J. Van Bergen, Nicole
Publikováno v:
Cellular & Molecular Life Sciences; 8/13/2024, Vol. 81 Issue 1, p1-22, 22p
Autor:
Nicole J. Van Bergen, Karen Gunanayagam, Adam M. Bournazos, Adhish S. Walvekar, Marc O. Warmoes, Liana N. Semcesen, Sebastian Lunke, Shobhana Bommireddipalli, Tim Sikora, Myrto Patraskaki, Dean L. Jones, Denisse Garza, Dale Sebire, Samuel Gooley, Catriona A. McLean, Parm Naidoo, Mugil Rajasekaran, David A. Stroud, Carole L. Linster, Mathew Wallis, Sandra T. Cooper, John Christodoulou
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3582 (2023)
We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is
Externí odkaz:
https://doaj.org/article/f007152ad18847fc97cce9ca69c18975
Autor:
Igor K. Nikogosian, Antoine J.J. Bracco Gartner, Paul R.D. Mason, Douwe J.J. van Hinsbergen, Klaudia F. Kuiper, Uwe Kirscher, Sergei Matveev, Araik Grigoryan, Edmond Grigoryan, Arsen Israyelyan, Manfred J. van Bergen, Janne M. Koornneef, Jan R. Wijbrans, Gareth R. Davies, Khachatur Meliksetian
Publikováno v:
Gondwana Research, 121, 168-195. Elsevier Inc.
Nikogosian, I K, Bracco Gartner, A J J, Mason, P R D, van Hinsbergen, D J J, Kuiper, K F, Kirscher, U, Matveev, S, Grigoryan, A, Grigoryan, E, Israyelyan, A, van Bergen, M J, Koornneef, J M, Wijbrans, J R, Davies, G R & Meliksetian, K 2023, ' The South Armenian Block: Gondwanan origin and Tethyan evolution in space and time ', Gondwana Research, vol. 121, pp. 168-195 . https://doi.org/10.1016/j.gr.2023.03.023
Nikogosian, I K, Bracco Gartner, A J J, Mason, P R D, van Hinsbergen, D J J, Kuiper, K F, Kirscher, U, Matveev, S, Grigoryan, A, Grigoryan, E, Israyelyan, A, van Bergen, M J, Koornneef, J M, Wijbrans, J R, Davies, G R & Meliksetian, K 2023, ' The South Armenian Block: Gondwanan origin and Tethyan evolution in space and time ', Gondwana Research, vol. 121, pp. 168-195 . https://doi.org/10.1016/j.gr.2023.03.023
The geodynamic evolution of the South Armenian Block (SAB) within the Tethyan realm during the Palaeozoic to present-day is poorly constrained. Much of the SAB is covered by Cenozoic sediments so that the relationships between the SAB and the neighbo
Autor:
Simranpreet Kaur, Nicole J. Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M. White, Carolyn Ellaway, John Christodoulou
Publikováno v:
Clinical Case Reports, Vol 7, Iss 12, Pp 2476-2482 (2019)
Abstract Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome‐like (RTT‐like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT‐like phenotypes
Externí odkaz:
https://doaj.org/article/9b2d7a5571764ea88e85c9ab3a5ba428
Autor:
Nicole J. Van Bergen, Sean Massey, Anita Quigley, Ben Rollo, Alexander R. Harris, Robert M.I. Kapsa, John Christodoulou
Publikováno v:
Biochemical Society Transactions. 50:1207-1224
CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene. Individuals with CDD suffer infantile onset, drug-resistant seizures, severe neur
Autor:
Nicole J. Van Bergen, Adhish S. Walvekar, Myrto Patraskaki, Tim Sikora, Carole L. Linster, John Christodoulou
Publikováno v:
Journal of Inherited Metabolic Disease. 45:1028-1038
The central cofactors NAD(P)H are prone to damage by hydration, resulting in formation of redox-inactive derivatives designated NAD(P)HX. The highly conserved enzymes NAD(P)HX dehydratase (NAXD) and NAD(P)HX epimerase (NAXE) function to repair intrac
Autor:
K. Nooren, W. Z. Hoek, T. Winkels, A. Huizinga, H. Van der Plicht, R. L. Van Dam, S. Van Heteren, M. J. Van Bergen, M. A. Prins, T. Reimann, J. Wallinga, K. M. Cohen, P. Minderhoud, H. Middelkoop
Publikováno v:
Earth Surface Dynamics, Vol 5, Pp 529-556 (2017)
The beach-ridge sequence of the Usumacinta–Grijalva delta borders a 300 km long section of the southern Gulf of Mexico coast. With around 500 beach ridges formed in the last 6500 years, the sequence is unsurpassed in the world in terms of number
Externí odkaz:
https://doaj.org/article/a6fa4220f0074d3898802a26178f6ebe
Autor:
Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou
Publikováno v:
Neurology: Genetics, 9(1):e200051. Lippincott Williams & Wilkins
Background and ObjectivesThe term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification
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Autor:
Manisha H. Shah, Elsa C. Chan, Nicole J. Van Bergen, Surinder S. Pandav, Sze Ng, Jonathan G. Crowston, Hitesh M. Peshavariya
Publikováno v:
Antioxidants, Vol 9, Iss 11, p 1126 (2020)
Collagen accumulation in sub-conjunctival tissue at the surgical wound is one of the major complications associated with glaucoma filtration surgery (GFS). This process often leads to unwanted fibrotic scar formation at the lesion site and dysfunctio
Externí odkaz:
https://doaj.org/article/26ff7808c89d4a67b4c2c06473943387