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Results: 378
Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome.
Gabriel Balmus, Delphine Larrieu, Ana C Barros, Casey Collins, Monica Abrudan, Mukerrem Demir, Nicola J Geisler, Christopher J Lelliott, Jacqueline K White, Natasha A Karp, James Atkinson, Andrea Kirton, Matt Jacobsen, Dean Clift, Raphael Rodriguez, Sanger Mouse Genetics Project, David J Adams, Stephen P Jackson
Feb 09, 2018
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death. Cells from HGPS patients accumulate...
Tensor-based morphometry and stereology reveal brain pathology in the complexin1 knockout mouse.
Catherine Kielar, Stephen J Sawiak, Paloma Navarro Negredo, Desmond HY Tse, A Jennifer Morton
Mar 26, 2018
Complexins (Cplxs) are small, soluble, regulatory proteins that bind reversibly to the SNARE complex and modulate synaptic vesicle release. Cplx1 knockout mice (Cplx1(-/-)) have the earliest known onset of ataxia seen in a mouse...
Early loss of Crebbp confers malignant stem cell properties on lymphoid progenitors.
Sarah J Horton, George Giotopoulos, Haiyang Yun, Shabana Vohra, Olivia Sheppard, Rachael Bashford-Rogers, Mamunur Rashid, Alexandra Clipson, Wai-In Chan, Daniel Sasca, Loukia Yiangou, Hikari Osaki, Faisal Basheer, Paolo Gallipoli, Natalie Burrows, Ayşegül Erdem, Anastasiya Sybirna, Sarah Foerster, Wanfeng Zhao, Tonci Sustic, Anna Petrunkina Harrison, Elisa Laurenti, Jessica Okosun, Daniel Hodson, Penny Wright, Ken G Smith, Patrick Maxwell, Jude Fitzgibbon, Ming Q Du, David J Adams, Brian JP Huntly
Apr 06, 2018
Loss-of-function mutations of cyclic-AMP response element binding protein, binding protein (CREBBP) are prevalent in lymphoid malignancies. However, the tumour suppressor functions of CREBBP remain unclear. We demonstrate that...
Acetylation Animals CREB-Binding Protein Cell Proliferation Cell Self Renewal Cell Transformation Neoplastic Cells Cultured DNA Damage Epigenesis Genetic Gene Expression Regulation Neoplastic Genetic Predisposition to Disease Histones Lymphangiogenesis Lymphoid Progenitor Cells Lymphoma lymphopoiesis Methylation Mice Mice Inbred C57BL Mice Knockout Mutation Neoplastic Stem Cells Phenotype Signal Transduction Time Factors Transcription Genetic Tumor Suppressor Protein p53
Cyclin B1 is essential for mitosis in mouse embryos, and its nuclear export sets the time for mitosis.
Bernhard Strauss, Andrew Harrison, Paula Almeida Coelho, Keiko Yata, Magdalena Zernicka-Goetz, Jonathon Pines
May 02, 2018
There is remarkable redundancy between the Cyclin-Cdk complexes that comprise the cell cycle machinery. None of the mammalian A-, D-, or E-type cyclins are required in development until implantation, and only Cdk1 is essential...
A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes.
Jorge de la Rosa, Julia Weber, Mathias Josef Friedrich, Yilong Li, Lena Rad, Hannes Ponstingl, Qi Liang, Sandra Bernaldo de Quirós, Imran Noorani, Emmanouil Metzakopian, Alexander Strong, Meng Amy Li, Aurora Astudillo, María Teresa Fernández-García, María Soledad Fernández-García, Gary J Hoffman, Rocío Fuente, George S Vassiliou, Roland Rad, Carlos López-Otín, Allan Bradley, Juan Cadiñanos
Oct 27, 2020
The overwhelming number of genetic alterations identified through cancer genome sequencing requires complementary approaches to interpret their significance and interactions. Here we developed a novel whole-body insertional...
Animals Cell Line Cell Movement DNA Transposable Elements Epithelial Cells Gene Dosage Genes Tumor Suppressor Genetic Predisposition to Disease Humans Kaplan-Meier Estimate Male Mice Knockout Mice Transgenic Mutagenesis Insertional Mutation PTEN Phosphohydrolase Prostate Prostatic Neoplasms RNA Interference Signal Transduction
TET2 Regulates the Neuroinflammatory Response in Microglia.
Alejandro Carrillo-Jimenez, Özgen Deniz, Maria Victoria Niklison-Chirou, Rocio Ruiz, Karina Bezerra-Salomão, Vassilis Stratoulias, Rachel Amouroux, Ping Kei Yip, Anna Vilalta, Mathilde Cheray, Alexander Michael Scott-Egerton, Eloy Rivas, Khadija Tayara, Irene García-Domínguez, Juan Garcia-Revilla, Juan Carlos Fernandez-Martin, Ana Maria Espinosa-Oliva, Xianli Shen, Peter St George-Hyslop, Guy Charles Brown, Petra Hajkova, Bertrand Joseph, Jose Luis Venero, Miguel Ramos Branco, Miguel Angel Burguillos
Oct 29, 2019
Epigenomic mechanisms regulate distinct aspects of the inflammatory response in immune cells. Despite the central role for microglia in neuroinflammation and neurodegeneration, little is known about their epigenomic regulation...
TET2 TLR-4 epigenetics metabolism Microglia Neuroinflammation Alzheimer Disease Amyloid Animals Brain DNA-Binding Proteins Dioxygenases Enhancer Elements Genetic Humans Interleukin-6 Lipopolysaccharides Male Mice Mice Inbred C57BL Mice Knockout Microglia Nitric Oxide Synthase Type II Proto-Oncogene Proteins RNA Interference RNA Small Interfering Rats Transcription Factor RelA Transcription Genetic
Loss of skeletal muscle HIF-1alpha results in altered exercise endurance.
Steven D Mason, Richard A Howlett, Matthew J Kim, I Mark Olfert, Michael C Hogan, Wayne McNulty, Reed P Hickey, Peter D Wagner, C Ronald Kahn, Frank J Giordano, Randall S Johnson
Mar 13, 2020
The physiological flux of oxygen is extreme in exercising skeletal muscle. Hypoxia is thus a critical parameter in muscle function, influencing production of ATP, utilization of energy-producing substrates, and manufacture of...
Adenosine Triphosphate Alleles Animals creatine kinase Crosses Genetic Gene Deletion Gene Expression Regulation Genotype Glucose Glycogen Glycolysis Hematocrit Hemoglobins Hypoxia Hypoxia-Inducible Factor 1 alpha Subunit Lactic Acid Male Mice Mice Inbred C57BL Mice Knockout Microscopy Electron Muscle Skeletal Oxygen Physical Conditioning Animal Physical Exertion Polymerase Chain Reaction Promoter Regions Genetic Reverse Transcriptase Polymerase Chain Reaction
Ageing in Pgc-1β-/- mice modelling mitochondrial dysfunction induces differential expression of a range of genes regulating ventricular electrophysiology.
Charlotte E Edling, Ibrahim T Fazmin, Karan R Chadda, Shiraz Ahmad, Haseeb Valli, Andrew A Grace, Christopher L-H Huang, Kamalan Jeevaratnam
Jun 20, 2019
Mice deficient in mitochondrial promoter peroxisome proliferator activated receptor-γ co-activator-1β (Pgc-1β-/- ) is a valuable model for metabolic diseases and has been found to present with several pathologies including...
Peroxisome proliferator activated receptor-γ coactivator-1 Cardiac arrhythmia gene expression and regulation Ion Channels metabolic syndromes aging Animals Arrhythmias Cardiac Gene Deletion Gene Expression Regulation Heart Ventricles Membrane Potentials Mice Mice Inbred C57BL Mice Knockout Mitochondria Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha Transcriptome Ventricular Function
RORα and 25-Hydroxycholesterol Crosstalk Regulates Lipid Droplet Homeostasis in Macrophages.
Zewen Kelvin Tuong, Patrick Lau, Ximing Du, Nicholas D Condon, Joel M Goode, Tae Gyu Oh, Jeremy C Yeo, George EO Muscat, Jennifer L Stow
Sep 02, 2019
Nuclear hormone receptors have important roles in the regulation of metabolic and inflammatory pathways. The retinoid-related orphan receptor alpha (Rorα)-deficient staggerer (sg/sg) mice display several phenotypes indicative of...
Animals Bone Marrow Cells Cells Cultured Chromatography Thin Layer Drug Inverse Agonism Hydroxycholesterols Lipid Droplets Lipid Metabolism Lipids MACROPHAGES Male Mice Mice Inbred C3H Mice Knockout Nuclear Receptor Subfamily 1 Group F Member 1 RNA Interference RNA Messenger Receptors LDL Steroid Hydroxylases Up-Regulation
Single-cell transcriptomics identifies CD44 as a marker and regulator of endothelial to haematopoietic transition.
Morgan Oatley, Özge Vargel Bölükbası, Valentine Svensson, Maya Shvartsman, Kerstin Ganter, Katharina Zirngibl, Polina V Pavlovich, Vladislava Milchevskaya, Vladimira Foteva, Kedar N Natarajan, Bianka Baying, Vladimir Benes, Kiran R Patil, Sarah A Teichmann, Christophe Lancrin
Mar 05, 2020
The endothelial to haematopoietic transition (EHT) is the process whereby haemogenic endothelium differentiates into haematopoietic stem and progenitor cells (HSPCs). The intermediary steps of this process are unclear, in...
Animals Aorta arteries Biomarkers Cell Cycle Citric Acid Cycle Computational Biology Core Binding Factor Alpha 2 Subunit Down-Regulation Endothelium Glycolysis Gonads Hematopoiesis Hematopoietic Stem Cells Hyaluronan Receptors Hyaluronic Acid Mesonephros Mice Mice Inbred C57BL Mice Knockout Transcriptome Transforming Growth Factor beta
Epithelial endoplasmic reticulum stress orchestrates a protective IgA response.
Joep Grootjans, Niklas Krupka, Shuhei Hosomi, Juan D Matute, Thomas Hanley, Svetlana Saveljeva, Thomas Gensollen, Jarom Heijmans, Hai Li, Julien P Limenitakis, Stephanie C Ganal-Vonarburg, Shengbao Suo, Adrienne M Luoma, Yosuke Shimodaira, Jinzhi Duan, David Q Shih, Margaret E Conner, Jonathan N Glickman, Gwenny M Fuhler, Noah W Palm, Marcel R de Zoete, C Janneke van der Woude, Guo-Cheng Yuan, Kai W Wucherpfennig, Stephan R Targan, Philip Rosenstiel, Richard A Flavell, Kathy D McCoy, Andrew J Macpherson, Arthur Kaser, Richard S Blumberg
Feb 15, 2019
αE-catenin is a candidate tumor suppressor for the development of E-cadherin-expressing lobular-type breast cancer.
Jolien S de Groot, Max Ak Ratze, Miranda van Amersfoort, Tanja Eisemann, Eva J Vlug, Mijanou T Niklaas, Suet-Feung Chin, Carlos Caldas, Paul J van Diest, Jos Jonkers, Johan de Rooij, Patrick WB Derksen
Sep 10, 2018
Although mutational inactivation of E-cadherin (CDH1) is the main driver of invasive lobular breast cancer (ILC), approximately 10-15% of all ILCs retain membrane-localized E-cadherin despite the presence of an apparent...
E-cadherin Rho/Rock lobular breast cancer mouse model α-catenin (CTNNA1) Actomyosin Adherens Junctions Animals Anoikis Antigens CD Breast Neoplasms Cadherins Carcinoma Lobular Cell Adhesion Cell Proliferation Cell Shape Female Gene Expression Regulation Neoplastic Genetic Predisposition to Disease Humans MCF-7 Cells Mice Knockout Mutation Neoplasm Invasiveness Phenotype Signal Transduction Tumor Suppressor Protein p53 Tumor Suppressor Proteins alpha Catenin rho GTP-Binding Proteins rho-Associated Kinases
Visceral and somatic pain modalities reveal NaV 1.7-independent visceral nociceptive pathways.
James RF Hockley, Rafael González-Cano, Sheridan McMurray, Miguel A Tejada-Giraldez, Cian McGuire, Antonio Torres, Anna L Wilbrey, Vincent Cibert-Goton, Francisco R Nieto, Thomas Pitcher, Charles H Knowles, José Manuel Baeyens, John N Wood, Wendy J Winchester, David C Bulmer, Cruz Miguel Cendán, Gordon McMurray
Sep 14, 2018
Nav1.7 Colorectal heat pain visceral nociception visceral pain voltage gated sodium channel Adult Aged Aged 80 and over Animals Capsaicin Female Humans Male Mice Mice Knockout Mustard Plant NAV1.7 Voltage-Gated Sodium Channel Nociceptive Pain Nociceptors Plant Oils Signal Transduction Sodium Channel Blockers visceral pain
Circulating tumor DNA in patients with colorectal adenomas
Ni Ni Moe Myint, Ajay M Verma, Daniel Fernandez-Garcia, Panchali Sarmah, Patrick S Tarpey, Saif Sattar Al-Aqbi, Hong Cai, Ricky Trigg, Kevin West, Lynne M Howells, Anne Thomas, Karen Brown, David S Guttery, Baljit Singh, Howard J Pringle, Ultan McDermott, Jacqui A Shaw, Alessandro Rufini
Nov 22, 2018
Improving early detection of colorectal cancer (CRC) is a key public health priority as adenomas and stage I cancer can be treated with minimally invasive procedures. Population screening strategies based on detection of occult...
Adenoma Adenomatous Polyposis Coli Protein Aged Aged 80 and over Animals Biomarkers Tumor Circulating Tumor DNA Colonic Neoplasms Early Detection of Cancer Female High-Throughput Nucleotide Sequencing Humans Liquid biopsy Male Mice Mice Knockout Middle Aged Polymerase Chain Reaction Proto-Oncogene Proteins B-raf Proto-Oncogene Proteins p21(ras)
Gingival fibroblasts protect against experimental abdominal aortic aneurysm development and rupture through tissue inhibitor of metalloproteinase-1 production.
Andreas Giraud, Lynda Zeboudj, Marie Vandestienne, Jérémie Joffre, Bruno Esposito, Stéphane Potteaux, José Vilar, Daniela Cabuzu, Johannes Kluwe, Sylvie Seguier, Alain Tedgui, Ziad Mallat, Antoine Lafont, Hafid Ait-Oufella
Apr 09, 2019
AIMS: Abdominal aortic aneurysm (AAA), frequently diagnosed in old patients, is characterized by chronic inflammation, vascular cell apoptosis and metalloproteinase-mediated extracellular matrix destruction. Despite improvement...
abdominal aortic aneurysm Cell therapy Gingival fibroblasts Metalloproteases Remodelling Angiotensin II Animals Aorta Abdominal Aortic Aneurysm Abdominal Aortic Rupture Disease Models Animal Extracellular Matrix FIBROBLASTS Gingiva Mice Inbred C57BL Mice Knockout Protective Agents Tissue Inhibitor of Metalloproteinase-1 Transforming Growth Factor beta
The immunological response to traumatic brain injury.
Traumatic brain injury (TBI) is the leading cause of death and disability in young adults in the developed world. The accuracy of early outcome-prediction remains poor even when all known prognostic factors are considered...
Adaptive immune system Autoimmunity innate immune system Neuroinflammation Traumatic brain injury Adaptive Immunity Alarmins Animals Astrocytes Autoantibodies Autoimmune Diseases of the Nervous System Brain Damage Chronic Brain Injuries Traumatic Cytokines Humans Immunity Innate immunomodulation Lymphocyte Subsets Mice Mice Knockout Microglia Neurodegenerative Diseases Neutrophils pattern recognition Automated Rats Time Factors
Caveolae protect endothelial cells from membrane rupture during increased cardiac output.
Jade PX Cheng, Carolina Mendoza-Topaz, Gillian Howard, Jessica Chadwick, Elena Shvets, Andrew S Cowburn, Benjamin J Dunmore, Alexi Crosby, Nicholas W Morrell, Benjamin J Nichols
Jun 19, 2018
Caveolae are strikingly abundant in endothelial cells, yet the physiological functions of caveolae in endothelium and other tissues remain incompletely understood. Previous studies suggest a mechanoprotective role, but whether...
Enhanced hemato-endothelial specification during human embryonic differentiation through developmental cooperation between AF4-MLL and MLL-AF4 fusions.
Clara Bueno, Fernando J Calero-Nieto, Xiaonan Wang, Rafael Valdés-Mas, Francisco Gutiérrez-Agüera, Heleia Roca-Ho, Veronica Ayllon, Pedro J Real, David Arambilet, Lluis Espinosa, Raul Torres-Ruiz, Antonio Agraz-Doblas, Ignacio Varela, Jasper de Boer, Anna Bigas, Bertie Gottgens, Rolf Marschalek, Pablo Menendez
Feb 04, 2019
Genetic or pharmaceutical blockade of phosphoinositide 3-kinase p110δ prevents chronic rejection of heart allografts.
Huijun Ying, Hongmei Fu, Marlene L Rose, Ann M McCormack, Padmini Sarathchandra, Klaus Okkenhaug, Federica M Marelli-Berg
Jun 28, 2018
Chronic rejection is the major cause of long-term heart allograft failure, characterized by tissue infiltration by recipient T cells with indirect allospecificity. Phosphoinositol-3-kinase p110δ is a key mediator of T cell...
adenine Animals Cells Cultured Chronic Disease Class Ia Phosphatidylinositol 3-Kinase Female Flow Cytometry Graft Rejection H-Y Antigen Heart Transplantation Humans Immune Tolerance Male Mice Mice Inbred C57BL Mice Knockout Microscopy Fluorescence Phosphoinositide-3 Kinase Inhibitors Quinazolines Skin Transplantation T-Lymphocytes Transplantation Homologous
The pathogenesis of mesothelioma is driven by a dysregulated translatome.
Stefano Grosso, Alberto Marini, Katarina Gyuraszova, Johan Vande Voorde, Aristeidis Sfakianos, Gavin D Garland, Angela Rubio Tenor, Ryan Mordue, Tanya Chernova, Nobu Morone, Marco Sereno, Claire P Smith, Leah Officer, Pooyeh Farahmand, Claire Rooney, David Sumpton, Madhumita Das, Ana Teodósio, Catherine Ficken, Maria Guerra Martin, Ruth V Spriggs, Xiao-Ming Sun, Martin Bushell, Owen J Sansom, Daniel Murphy, Marion MacFarlane, John P C Le Quesne, Anne E Willis
Sep 14, 2021
Tumor Cells Cultured Mitochondria Polyribosomes Animals Mice Inbred C57BL Mice Knockout Humans asbestos Naphthyridines RNA Messenger Protein Biosynthesis Oncogenes Mechanistic Target of Rapamycin Complex 1 Mechanistic Target of Rapamycin Complex 2 Mesothelioma Malignant
Published by: Nature Communications
The transcription factor BCL11A defines distinct subsets of midbrain dopaminergic neurons.
Marianna Tolve, Ayse Ulusoy, Nikolaos Patikas, K Ushna S Islam, Gabriela O Bodea, Ece Öztürk, Bianca Broske, Astrid Mentani, Antonia Wagener, Karen MJ van Loo, Stefan Britsch, Pengtao Liu, Walid T Khaled, Emmanouil Metzakopian, Stephan L Baader, Donato A Di Monte, Sandra Blaess
Sep 16, 2021
Midbrain dopaminergic (mDA) neurons are diverse in their projection targets, effect on behavior, and susceptibility to neurodegeneration. Little is known about the molecular mechanisms establishing this diversity during...
ALPHA-SYNUCLEIN Behavior circuits development Dopaminergic Neurons iPSCs MOUSE neurodegeneration neuronal diversity Transcription factor Animals Behavior Animal Brain Dopamine Dopaminergic Neurons Humans Induced Pluripotent Stem Cells Male Mice Mice Knockout Repressor Proteins Substantia Nigra Transcriptome Ventral Tegmental Area ALPHA-SYNUCLEIN
Synthetic lethality between PAXX and XLF in mammalian development.
Gabriel Balmus, Ana C Barros, Paul WG Wijnhoven, Chloé Lescale, Hélène Lenden Hasse, Katharina Boroviak, Carlos le Sage, Brendan Doe, Anneliese O Speak, Antonella Galli, Matt Jacobsen, Ludovic Deriano, David J Adams, Andrew N Blackford, Stephen P Jackson
Nov 17, 2016
Extensive Proliferation of a Subset of Differentiated, yet Plastic, Medial Vascular Smooth Muscle Cells Contributes to Neointimal Formation in Mouse Injury and Atherosclerosis Models.
Joel Chappell, Jennifer L Harman, Vagheesh M Narasimhan, Haixiang Yu, Kirsty Foote, Benjamin D Simons, Martin R Bennett, Helle F Jørgensen
Nov 22, 2016
Atherosclerosis lineage-tracing MACROPHAGES Neointima Phenotype vascular diseases vascular smooth muscle Animals Atherosclerosis Cell Proliferation Disease Models Animal Mice Mice Inbred BALB C Mice Inbred C57BL Mice Knockout Mice Transgenic Muscle Smooth Vascular Myocytes Smooth Muscle Neointima Vascular System Injuries
The incretin hormone glucagon-like peptide 1 increases mitral cell excitability by decreasing conductance of a voltage-dependent potassium channel.
Nicolas Thiebaud, Ida J Llewellyn-Smith, Fiona Gribble, Frank Reimann, Stefan Trapp, Debra Ann Fadool
Mar 01, 2016
Deletions within its subcellular targeting domain enhance the axon protective capacity of Nmnat2 in vivo.
The NAD-synthesising enzyme Nmnat2 is a critical survival factor for axons in vitro and in vivo. We recently reported that loss of axonal transport vesicle association through mutations in its isoform-specific targeting and...
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