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Results: 307
HIRA loss transforms FH-deficient cells.
Lorea Valcarcel-Jimenez, Connor Rogerson, Cissy Yong, Christina Schmidt, Ming Yang, Monica Cremades-Rodelgo, Victoria Harle, Victoria Offord, Kim Wong, Ariane Mora, Alyson Speed, Veronica Caraffini, Maxine Gia Binh Tran, Eamonn R Maher, Grant D Stewart, Sakari Vanharanta, David J Adams, Christian Frezza
Nov 21, 2022
Fumarate hydratase (FH) is a mitochondrial enzyme that catalyzes the reversible hydration of fumarate to malate in the tricarboxylic acid (TCA) cycle. Germline mutations of FH lead to hereditary leiomyomatosis and renal cell...
Point process simulation of generalised inverse Gaussian processes and estimation of the Jaeger integral
Abstract In this paper novel simulation methods are provided for the generalised inverse Gaussian (GIG) Lévy process. Such processes are intractable for simulation except in certain special edge...
Point process simulation of generalised inverse Gaussian processes and estimation of the Jaeger integral
In this paper novel simulation methods are provided for the generalised inverse Gaussian (GIG) L\'{e}vy process. Such processes are intractable for simulation except in certain special edge cases, since the L\'{e}vy density...
Fumarate Hydratase Loss Causes Combined Respiratory Chain Defects.
Petros A Tyrakis, Marie E Yurkovich, Marco Sciacovelli, Evangelia K Papachristou, Hannah R Bridges, Edoardo Gaude, Alexander Schreiner, Clive D'Santos, Judy Hirst, Juan Hernandez-Fernaud, Roger Springett, John R Griffiths, Christian Frezza
May 22, 2018
Fumarate hydratase (FH) is an enzyme of the tricarboxylic acid (TCA) cycle mutated in hereditary and sporadic cancers. Despite recent advances in understanding its role in tumorigenesis, the effects of FH loss on mitochondrial...
mTORC1 Upregulation Leads to Accumulation of the Oncometabolite Fumarate in a Mouse Model of Renal Cell Carcinoma.
Luca Drusian, Elisa Agnese Nigro, Valeria Mannella, Roberto Pagliarini, Monika Pema, Ana SH Costa, Fabio Benigni, Alessandro Larcher, Marco Chiaravalli, Edoardo Gaude, Francesco Montorsi, Umberto Capitanio, Giovanna Musco, Christian Frezza, Alessandra Boletta
Nov 01, 2018
Renal cell carcinomas (RCCs) are common cancers diagnosed in more than 350,000 people each year worldwide. Several pathways are de-regulated in RCCs, including mTORC1. However, how mTOR drives tumorigenesis in this context is...
TCA cycle cancer metabolism cancer signaling epithelial transformation Fumarate Hydratase Metabolic reprogramming papillary carcinoma rapamycin renal cancer renal cysts Animals Carcinoma Renal Cell Cells Cultured Female Fumarate Hydratase Fumarates Humans Kidney Neoplasms Male Mechanistic Target of Rapamycin Complex 1 Mice Mice Inbred C57BL Tuberous Sclerosis Complex 1 Protein Up-Regulation
Volumetric alterations in the hippocampal subfields of subjects at increased risk of dementia.
Maria-Eleni Dounavi, Elijah Mak, Katie Wells, Karen Ritchie, Craig W Ritchie, Li Su, John T O' Brien
Mar 16, 2020
The hippocampus is one of the first regions to demonstrate atrophy during the prodromal stage of Alzheimer's disease. Volumetric analysis of its individual subfields could provide biomarkers with higher sensitivity than whole...
Inherited risk of dementia and the progression of cerebral small vessel disease and inflammatory markers in cognitively healthy midlife adults
Audrey Low, Li Su, James D Stefaniak, Elijah Mak, Maria-Eleni Dounavi, Graciela Muniz-Terrera, Karen Ritchie, Craig W Ritchie, Hugh S Markus, John T O'Brien
Nov 11, 2020
Cerebral small vessel disease (SVD) and inflammation are increasingly recognized as key contributors to Alzheimer's disease (AD), although the timing, trajectory, and relation between them early in the disease process is...
APOE4 Alzheimer's Disease Cerebral microbleeds cerebral small vessel disease Inflammation Risk Factors White matter hyperintensities Alzheimer Disease Apolipoprotein E4 Biomarkers C-Reactive Protein cerebral small vessel diseases Cognition Dementia Disease Progression Female Fibrinogen Genetic Association Studies Genetic Predisposition to Disease healthy aging Heterozygote Humans Inflammasomes Male Middle Aged risk white matter
A New Comprehensive Colorectal Cancer Risk Prediction Model Incorporating Family History, Personal Characteristics, and Environmental Factors.
Yingye Zheng, Xinwei Hua, Aung K Win, Robert J Macinnis, Steven Gallinger, Loic Le Marchand, Noralane M Lindor, John A Baron, John L Hopper, James G Dowty, Antonis C Antoniou, Jiayin Zheng, Mark A Jenkins, Polly A Newcomb
Feb 28, 2020
PURPOSE: Reducing colorectal cancer incidence and mortality through early detection would improve efficacy if targeted. We developed a colorectal cancer risk prediction model incorporating personal, family, genetic, and...
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
Caroline Robinson, Thomas F Hiemstra, Deborah Spencer, Sarah Waller, Laura Daboo, Fiona E Karet Frankl, Richard N Sandford
Dec 03, 2020
BACKGROUND: ADPKD affects approximately 1:1000 of the worldwide population. It is caused by mutations in two genes, PKD1 and PKD2. Although allelic variation has some influence on disease severity, genic effects are strong, with...
Fumarate hydratase loss promotes mitotic entry in the presence of DNA damage after ionising radiation.
An altered response to DNA damage is commonly associated with genomic instability, a hallmark of cancer. Fumarate hydratase (FH) was recently characterised as a DNA repair factor required in non-homologous end-joining (NHEJ)...
Crosslinking of a CD4 Mimetic Miniprotein with HIV-1 Env gp140 Alters Kinetics and Specificities of Antibody Responses against HIV-1 Env in Macaques
X Shen, WM Bogers, NL Yates, G Ferrari, AK Dey, WT Williams, FH Jaeger, K Wiehe, S Sawant, SM Alam, CC LaBranche, DC Montefiori, L Martin, I Srivastava, J Heeney, SW Barnett, GD Tomaras
Aug 03, 2017
CD4 mimetic Antibody epitope exposure human immunodeficiency virus nonhuman primate structural modification vaccine AIDS Vaccines Animals Antibodies Neutralizing Antibody-Dependent Cell Cytotoxicity CD4 Antigens CD4-Positive T-Lymphocytes Epitopes HIV Antibodies HIV Envelope Protein gp120 HIV-1 Immunoglobulin A Immunoglobulin G Macaca mulatta Vaccination env Gene Products Human Immunodeficiency Virus
Fumarate induces vesicular release of mtDNA to drive innate immunity.
Vincent Zecchini, Vincent Paupe, Irene Herranz-Montoya, Joëlle Janssen, Inge MN Wortel, Jordan L Morris, Ashley Ferguson, Suvagata Roy Chowdury, Marc Segarra-Mondejar, Ana SH Costa, Gonçalo C Pereira, Laura Tronci, Timothy Young, Efterpi Nikitopoulou, Ming Yang, Dóra Bihary, Federico Caicci, Shun Nagashima, Alyson Speed, Kalliopi Bokea, Zara Baig, Shamith Samarajiwa, Maxine Tran, Thomas Mitchell, Mark Johnson, Julien Prudent, Christian Frezza
Apr 08, 2023
Mutations in fumarate hydratase (FH) cause hereditary leiomyomatosis and renal cell carcinoma1. Loss of FH in the kidney elicits several oncogenic signalling cascades through the accumulation of the oncometabolite fumarate2....
Attentive brain states in infants with and without later autism
Anna Gui, Giorgia Bussu, Charlotte Tye, Mayada Elsabbagh, Greg Pasco, Tony Charman, Mark H. Johnson, Emily J. H. Jones
Mar 30, 2021
Abstract: Early difficulties in engaging attentive brain states in social settings could affect learning and have cascading effects on social development. We investigated this possibility using multichannel...
Attentive brain states in infants with and without later autism
Anna Gui, Giorgia Bussu, Charlotte Tye, Mayada Elsabbagh, Greg Pasco, Tony Charman, Mark H. Johnson, Emily J. H. Jones
Aug 02, 2021
Abstract: Early difficulties in engaging attentive brain states in social settings could affect learning and have cascading effects on social development. We investigated this possibility using multichannel...
Attentive brain states in infants with and without later autism
Anna Gui, Giorgia Bussu, Charlotte Tye, Mayada Elsabbagh, Greg Pasco, Tony Charman, Mark H. Johnson, Emily J. H. Jones
May 10, 2021
Abstract: Early difficulties in engaging attentive brain states in social settings could affect learning and have cascading effects on social development. We investigated this possibility using multichannel...
Attentive brain states in infants with and without later autism
Anna Gui, Giorgia Bussu, Charlotte Tye, Mayada Elsabbagh, Greg Pasco, Tony Charman, Mark H. Johnson, Emily J. H. Jones
May 11, 2021
Abstract: Early difficulties in engaging attentive brain states in social settings could affect learning and have cascading effects on social development. We investigated this possibility using multichannel...
Sialylation acts as a checkpoint for innate immune responses in the central nervous system.
Sialic acids are monosaccharides that normally terminate the glycan chains of cell surface glyco-proteins and -lipids in mammals, and are highly enriched in the central nervous tissue. Sialic acids are conjugated to proteins and...
Intelligent Anti-Jamming Decision Algorithm of Bivariate Frequency Hopping Pattern Based on DQN With PER and Pareto
To improve the anti-jamming performance of frequency hopping system in complex electromagnetic environment, a Deep Q-Network algorithm with priority experience replay (PER) based on Pareto samples (PPER-DQN) is proposed, which...
Published by: IGI Global Scientific Publishing
Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.
Ranjit Manchanda, Shreeya Patel, Vladimir S Gordeev, Antonis C Antoniou, Shantel Smith, Andrew Lee, John L Hopper, Robert J Macinnis, Clare Turnbull, Susan J Ramus, Simon A Gayther, Paul DP Pharoah, Usha Menon, Ian Jacobs, Rosa Legood
Jan 12, 2018
BACKGROUND: The cost-effectiveness of population-based panel testing for high- and moderate-penetrance ovarian cancer (OC)/breast cancer (BC) gene mutations is unknown. We evaluate the cost-effectiveness of population-based...
Adult Aged Aged 80 and over BRCA1 Protein BRCA2 Protein Breast Neoplasms Cost-Benefit Analysis DNA Mutational Analysis Decision Support Techniques Fanconi Anemia Complementation Group N Protein Fanconi Anemia Complementation Group Proteins Female Genetic Testing Humans Incidence Mammography Middle Aged Mutation Ovarian Neoplasms RNA Helicases United Kingdom United States
Attentive brain states in infants with and without later autism.
Anna Gui, Giorgia Bussu, Charlotte Tye, Mayada Elsabbagh, Greg Pasco, Tony Charman, Mark H Johnson, Emily JH Jones
May 17, 2021
Early difficulties in engaging attentive brain states in social settings could affect learning and have cascading effects on social development. We investigated this possibility using multichannel electroencephalography during a...
Post-translational regulation of metabolism in fumarate hydratase deficient cancer cells.
Emanuel Gonçalves, Marco Sciacovelli, Ana SH Costa, Maxine Gia Binh Tran, Timothy Isaac Johnson, Daniel Machado, Christian Frezza, Julio Saez-Rodriguez
Feb 13, 2018
Deregulated signal transduction and energy metabolism are hallmarks of cancer and both play a fundamental role in tumorigenesis. While it is increasingly recognised that signalling and metabolism are highly interconnected, the...
Cooperation across multiple game theoretical paradigms is increased by fear more than anger in selfish individuals.
Cooperative decisions are well predicted by stable individual differences in social values but it remains unclear how they may be modulated by emotions such as fear and anger. Moving beyond specific decision paradigms, we used a...
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