Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Jelle van den Ameele"'
Autor:
Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F. Chinnery, Catarina Olimpio, Rita Horvath
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundLeber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to
Externí odkaz:
https://doaj.org/article/48c871d2ccba431b9451d553f5fb705c
Autor:
Jelle van den Ameele, Robert Krautz, Seth W. Cheetham, Alex P. A. Donovan, Oriol Llorà-Batlle, Rebecca Yakob, Andrea H. Brand
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Notch signalling plays a key role in cell fate transitions, but how Notch activates distinct regulatory networks in closely related cell types is not well understood. Here the authors profile Notch and RBPJ targets in the developing mouse cortex and
Externí odkaz:
https://doaj.org/article/93dff00102e946c68df70fd26447e0de
Autor:
A. Ayanna Wade, Jelle van den Ameele, Seth W. Cheetham, Rebecca Yakob, Andrea H. Brand, Alex S. Nord
Publikováno v:
iScience, Vol 24, Iss 11, Pp 103234- (2021)
Summary: Genetic studies of autism have revealed causal roles for chromatin remodeling gene mutations. Chromodomain helicase DNA binding protein 8 (CHD8) encodes a chromatin remodeler with significant de novo mutation rates in sporadic autism. Howeve
Externí odkaz:
https://doaj.org/article/4d31afdb8ce6460180b433cbe96604ab
Autor:
Michael J. Keogh, Wei Wei, Juvid Aryaman, Lauren Walker, Jelle van den Ameele, Jon Coxhead, Ian Wilson, Matthew Bashton, Jon Beck, John West, Richard Chen, Christian Haudenschild, Gabor Bartha, Shujun Luo, Chris M. Morris, Nick S. Jones, Johannes Attems, Patrick F. Chinnery
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Similar to cancers, somatic mutations might lead to neurodegenerative diseases. Here, the authors perform ultra-deep sequencing of 102 genes in 173 adult human brains, detect somatic mutations in 54 brains, and develop a mathematical model to estimat
Externí odkaz:
https://doaj.org/article/4340dcba8f0b45e0b3cd339e05e6fd88
Autor:
Jelle van den Ameele, Andrea H Brand
Publikováno v:
eLife, Vol 8 (2019)
Translating advances in cancer research to clinical applications requires better insight into the metabolism of normal cells and tumour cells in vivo. Much effort has focused on understanding how glycolysis and oxidative phosphorylation (OxPhos) supp
Externí odkaz:
https://doaj.org/article/64d0c3a587224926bad821eed13c8f61
Publikováno v:
Development. 149
Neural stem cells (NSCs) in the developing and adult brain undergo many different transitions, tightly regulated by extrinsic and intrinsic factors. While the role of signalling pathways and transcription factors is well established, recent evidence
Autor:
Alba Sanchis-Juan, Ernest Turro, Katherine Schon, Patrick F. Chinnery, Daniel Greene, Rita Horvath, Wei Wei, Lucy Raymond, Jelle van den Ameele, Thiloka Ratnaike
Publikováno v:
Nucleic Acids Research
Diagnosing mitochondrial disorders remains challenging. This is partly because the clinical phenotypes of patients overlap with those of other sporadic and inherited disorders. Although the widespread availability of genetic testing has increased the
Autor:
Dawei Sun, Oriol Llora Batlle, Jelle van den Ameele, John C Thomas, Peng He, Kyungtae Lim, Walfred Tang, Chufan Xu, Kerstin B Meyer, Sarah A Teichmann, John C Marioni, Stephen P Jackson, Andrea H Brand, Emma L Rawlins
Publikováno v:
The EMBO Journal. 41
The balance between self‐renewal and differentiation in human foetal lung epithelial progenitors controls the size and function of the adult organ. Moreover, progenitor cell gene regulation networks are employed by both regenerating and malignant l