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Results: 23
CyanoGate
Ravendran Vasudevan, Grant AR Gale, Alejandra A Schiavon, Anton Puzorjov, John Malin, Michael D Gillespie, Konstantinos Vavitsas, Valentin Zulkower, Baojun Wang, Christopher J Howe, David J Lea-Smith, Alistair J McCormick
Mar 14, 2019
Recent advances in synthetic biology research have been underpinned by an exponential increase in available genomic information and a proliferation of advanced DNA assembly tools. The adoption of plasmid vector assembly...
Glucose-Dependent Insulinotropic Polypeptide Receptor-Expressing Cells in the Hypothalamus Regulate Food Intake.
Alice E Adriaenssens, Emma K Biggs, Tamana Darwish, John Tadross, Tanmay Sukthankar, Milind Girish, Joseph Polex-Wolf, Brain Y Lam, Ilona Zvetkova, Warren Pan, Davide Chiarugi, Giles SH Yeo, Clemence Blouet, Fiona M Gribble, Frank Reimann
Jul 31, 2019
Ambiguity regarding the role of glucose-dependent insulinotropic polypeptide (GIP) in obesity arises from conflicting reports asserting that both GIP receptor (GIPR) agonism and antagonism are effective strategies for inhibiting...
Food intake Glucose-dependent insulinotropic polypeptide Glucose-dependent insulinotropic polypeptide receptor Hypothalamus Aged 80 and over Animals Eating Female Gastric Inhibitory Polypeptide Gene Knock-In Techniques Glucagon-Like Peptide 1 Glucagon-Like Peptide-1 Receptor Humans Hypothalamus Mice Mice Inbred C57BL Mice Transgenic Neurons obesity Receptors Gastrointestinal Hormone
Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin.
Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension.
Lu Long, Mark L Ormiston, Xudong Yang, Mark Southwood, Stefan Gräf, Rajiv D Machado, Matthias Mueller, Bernd Kinzel, Lai Ming Yung, Janine M Wilkinson, Stephen D Moore, Kylie M Drake, Micheala A Aldred, Paul B Yu, Paul D Upton, Nicholas W Morrell
Jan 23, 2018
Genetic evidence implicates the loss of bone morphogenetic protein type II receptor (BMPR-II) signaling in the endothelium as an initiating factor in pulmonary arterial hypertension (PAH). However, selective targeting of this...
aging Animals Apoptosis Bone Morphogenetic Protein Receptors Type II Cell Membrane Permeability Densitometry Endothelial Cells Gene Expression Profiling Gene Knock-In Techniques Growth Differentiation Factor 2 Heart Ventricles Humans Hypertension Pulmonary Immunoblotting JNK Mitogen-Activated Protein Kinases Male Mice Inbred C57BL Monocrotaline Phosphorylation Pulmonary Artery Rats Rats Sprague-Dawley Systole Transcription Genetic
Fabian Jakubczik, Ken Jones, Jennifer Nichols, William Mansfield, Anne Cooke, Nick Holmes
Oct 13, 2015
Adoptive Transfer Animals Autoimmunity CD4-Positive T-Lymphocytes CTLA-4 Antigen Diabetes mellitus Type 1 Gene Knock-In Techniques Genetic Predisposition to Disease Mice Mice Inbred NOD Mice Transgenic Mouse embryonic stem cells Polymorphism Single Nucleotide Protein Isoforms RNA Splicing RNA Messenger
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.
Caterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, Luis C Lopez, Saba Tadesse, Hasan O Akman, Kurenai Tanji, Catarina M Quinzii, Michio Hirano
Sep 13, 2019
Autosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP)...
Knock-in models related to Alzheimer's disease
Diana P Benitez, Shenyi Jiang, Jack Wood, Rui Wang, Chloe M Hall, Carlijn Peerboom, Natalie Wong, Katie M Stringer, Karina S Vitanova, Victoria C Smith, Dhaval Joshi, Takashi Saito, Takaomi C Saido, John Hardy, Jörg Hanrieder, Bart De Strooper, Dervis A Salih, Takshashila Tripathi, Frances A Edwards, Damian M Cummings
Aug 16, 2021
BACKGROUND: Microglia are active modulators of Alzheimer's disease but their role in relation to amyloid plaques and synaptic changes due to rising amyloid beta is unclear. We add novel findings concerning these relationships...
Ageing Alzheimer’s disease amyloid beta Gene Expression Microglia neurodegeneration Plaques synaptic plasticity Synaptic Transmission TREM2 Alzheimer Disease Amyloid beta-Protein Precursor Animals Disease Models Animal Gene Knock-In Techniques Humans Mice Microglia Plaque Amyloid Synaptic Transmission
Generation and Characterisation of a Pax8-CreERT2 Transgenic Line and a Slc22a6-CreERT2 Knock-In Line for Inducible and Specific Genetic Manipulation of Renal Tubular Epithelial Cells.
Judit Espana-Agusti, Xiangang Zou, Kim Wong, Beiyuan Fu, Fengtang Yang, David A Tuveson, David J Adams, Athena Matakidou
Feb 09, 2016
Animals Chromosomes Artificial Bacterial Epithelial Cells Estrogen Receptor alpha Female Gene Deletion Gene Knock-In Techniques Genotype Hypoxia Immunohistochemistry In Situ Hybridization Fluorescence Integrases Kidney Tubules Male Mice Mice Inbred C57BL Mice Transgenic Organic Anion Transport Protein 1 PAX8 Transcription Factor Paired Box Transcription Factors Sequence Analysis DNA Tamoxifen Transgenes
Allelic series of Huntington's disease knock-in mice reveals expression discorrelates.
Ashish Kumar, Jennifer Zhang, Sara Tallaksen-Greene, Michael R Crowley, David K Crossman, A Jennifer Morton, Thomas Van Groen, Inga Kadish, Roger L Albin, Mathieu Lesort, Peter J Detloff
Mar 21, 2016
Age-related axonal swellings precede other neuropathological hallmarks in a knock-in mouse model of Huntington's disease.
Martina Marangoni, Robert Adalbert, Lucie Janeckova, Jane Patrick, Jaskaren Kohli, Michael P Coleman, Laura Conforti
May 24, 2018
Axon degeneration precedes cell body death in many age-related neurodegenerative disorders, often determining symptom onset and progression. A sensitive method for revealing axon pathology could indicate whether this is the case...
ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation.
Cullin‐3 ROMK WNK kinases hyperkalemia Proteasome ubiquitin‐ligase complex Adaptor Proteins Signal Transducing Animals Biomarkers Cell Line Cullin Proteins Gene Knock-In Techniques Genetic Predisposition to Disease Kidney Membrane Potentials Mice Transgenic Microfilament Proteins Mutation Oocytes Phenotype Potassium Potassium Channels Inwardly Rectifying Protein Processing Post-Translational Protein Serine-Threonine Kinases Pseudohypoaldosteronism Transfection Xenopus laevis
PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner.
Anne-Katrien Stark, Anita Chandra, Krishnendu Chakraborty, Rafeah Alam, Valentina Carbonaro, Jonathan Clark, Srividya Sriskantharajah, Glyn Bradley, Alex G Richter, Edward Banham-Hall, Menna R Clatworthy, Sergey Nejentsev, J Nicole Hamblin, Edith M Hessel, Alison M Condliffe, Klaus Okkenhaug
Oct 10, 2018
Animals Antigens CD19 B-Lymphocytes Class I Phosphatidylinositol 3-Kinases Enzyme Activation Female Gene Knock-In Techniques Genotype Humans Interleukin-10 Lung Male Mice Mice Inbred C57BL Neutrophils Phosphatidylinositol 3-Kinases Phosphoinositide-3 Kinase Inhibitors Pneumococcal Infections Signal Transduction Species Specificity Streptococcus pneumoniae
L444P Gba1 mutation increases formation and spread of α-synuclein deposits in mice injected with mouse α-synuclein pre-formed fibrils.
Anna Migdalska-Richards, Michal Wegrzynowicz, Ian F Harrison, Guglielmo Verona, Vittorio Bellotti, Maria Grazia Spillantini, Anthony HV Schapira
Nov 02, 2020
Parkinson disease is the most common neurodegenerative movement disorder, estimated to affect one in twenty-five individuals over the age of 80. Mutations in glucocerebrosidase 1 (GBA1) represent the most common genetic risk...
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Yongjie Yang, Agatha A van der Klaauw, Liangru Zhu, Tessa M Cacciottolo, Yanlin He, Lukas KJ Stadler, Chunmei Wang, Pingwen Xu, Kenji Saito, Antentor Hinton, Xiaofeng Yan, Julia M Keogh, Elana Henning, Matthew C Banton, Audrey E Hendricks, Elena G Bochukova, Vanisha Mistry, Katherine L Lawler, Lan Liao, Jianming Xu, Stephen O'Rahilly, Qingchun Tong, UK10K consortium, Inês Barroso, Bert W O'Malley, I Sadaf Farooqi, Yong Xu
Feb 01, 2019
Hypothalamic neurons expressing the anorectic peptide Pro-opiomelanocortin (Pomc) regulate food intake and body weight. Here, we show that Steroid Receptor Coactivator-1 (SRC-1) interacts with a target of leptin receptor...
Alleles Animals Body Weight Cell Line Tumor Crosses Genetic Gene Deletion Gene Knock-In Techniques genetic variation HEK293 Cells Heterozygote Homeostasis Humans Hypothalamus Leptin Male Membrane Potentials Mice Mice Transgenic Mutation Missense Neurons Nuclear Receptor Coactivator 1 obesity Phenotype
Mutant nucleophosmin and cooperating pathways drive leukemia initiation and progression in mice.
George S Vassiliou, Jonathan L Cooper, Roland Rad, Juan Li, Stephen Rice, Anthony Uren, Lena Rad, Peter Ellis, Rob Andrews, Ruby Banerjee, Carolyn Grove, Wei Wang, Pentao Liu, Penny Wright, Mark Arends, Allan Bradley
Oct 22, 2020
Acute myeloid leukemia (AML) is a molecularly diverse malignancy with a poor prognosis whose largest subgroup is characterized by somatic mutations in NPM1, which encodes nucleophosmin. These mutations, termed NPM1c, result in...
Amino Acid Sequence Animals Base Sequence Disease Progression Gene Expression Gene Knock-In Techniques Hematopoietic Stem Cells Homeodomain Proteins Humans Leukemia Experimental Leukemia Myeloid Acute Mice Mice Transgenic Molecular Sequence Data Mutation Myelopoiesis Nuclear Proteins Nucleophosmin Recombinant Proteins Sequence Homology Amino Acid
Rewiring Neuronal Glycerolipid Metabolism Determines the Extent of Axon Regeneration
Chao Yang, Xu Wang, Jianying Wang, Xuejie Wang, Weitao Chen, Na Lu, Symeon Siniossoglou, Zhongping Yao, Kai Liu
Dec 16, 2019
DGAT1 DGAT2 Lipin1 Axon regeneration glycerolipid phospholipid Retinal ganglion cell triglyceride Animals Axons Axotomy Cells Cultured Diacylglycerol O-Acyltransferase Female Gene Knock-In Techniques Hydrolysis Male Mice Mice Transgenic Nerve Regeneration Optic Nerve Injuries PTEN Phosphohydrolase Phosphatidate Phosphatase Phospholipids Primary Cell Culture RNA Untranslated Retinal Ganglion Cells Rod Opsins Triglycerides
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Inga Hofmann, Mitchell J Geer, Timo Vögtle, Andrew Crispin, Dean R Campagna, Alastair Barr, Monica L Calicchio, Silke Heising, Johanna P van Geffen, Marijke JE Kuijpers, Johan WM Heemskerk, Johannes A Eble, Klaus Schmitz-Abe, Esther A Obeng, Michael Douglas, Kathleen Freson, Corinne Pondarré, Rémi Favier, Gavin E Jarvis, Kyriacos Markianos, Ernest Turro, Willem H Ouwehand, Alexandra Mazharian, Mark D Fleming, Yotis A Senis
Oct 10, 2018
Unlike primary myelofibrosis (PMF) in adults, myelofibrosis in children is rare. Congenital (inherited) forms of myelofibrosis (cMF) have been described, but the underlying genetic mechanisms remain elusive. Here we describe 4...
Clonal heterogeneity as a driver of disease variability in the evolution of myeloproliferative neoplasms.
Animals Cell Division Cell Transformation Neoplastic Clone Cells Cytokines Epigenesis Genetic evolution Molecular Gene Dosage Gene Knock-In Techniques Genetic Heterogeneity Hematopoietic Stem Cells Humans Janus Kinase 2 Leukemia Myeloid Models Genetic Multipotent Stem Cells Mutation Missense Myeloproliferative Disorders Neoplasm Proteins Neoplastic Stem Cells Phenotype Point Mutation RNA Splicing selection Genetic Signal Transduction Transcription Factors
ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic.
James W Connell, Rachel J Allison, Catherine E Rodger, Guy Pearson, Eliska Zlamalova, Evan Reid
Sep 24, 2019
AAA ATPase Axonopathy Bone morphogenetic protein signalling Microtubule modification Protrusion formation Animals Bone Morphogenetic Protein Receptors Cell Membrane Cell Polarity Cell Surface Extensions Cells Cultured Endosomal Sorting Complexes Required for Transport FIBROBLASTS Gene Knock-In Techniques HeLa Cells Humans Kinesins Mice Protein Transport Spastic Paraplegia Hereditary Spastin Vesicular Transport Proteins
Analysis of a wild mouse promoter variant reveals a novel role for FcγRIIb in the control of the germinal center and autoimmunity.
Marion Espéli, Menna R Clatworthy, Susanne Bökers, Kate E Lawlor, Antony J Cutler, Frank Köntgen, Paul A Lyons, Kenneth GC Smith
Nov 29, 2018
Genetic variants of the inhibitory Fc receptor FcγRIIb have been associated with systemic lupus erythematosus in humans and mice. The mechanism by which Fcgr2b variants contribute to the development of autoimmunity is unknown...
Animals Autoantibodies Autoimmunity B-Lymphocytes Chromatin Immunoprecipitation DNA Primers Enzyme-Linked Immunosorbent Assay Enzyme-Linked Immunospot Assay Flow Cytometry Gene Expression Regulation Gene Knock-In Techniques genetic variation Germinal Center Luciferases Mice Mice Inbred C57BL Mutagenesis Site-Directed Promoter Regions Genetic Receptors IgG Sequence Analysis DNA statistics Nonparametric Transcription Factor AP-1
Structural basis for RING-Cys-Relay E3 ligase activity and its role in axon integrity.
Peter D Mabbitt, Andrea Loreto, Marc-André Déry, Adam J Fletcher, Mathew Stanley, Kuan-Chuan Pao, Nicola T Wood, Michael P Coleman, Satpal Virdee
Aug 18, 2020
MYCBP2 is a ubiquitin (Ub) E3 ligase (E3) that is essential for neurodevelopment and regulates axon maintenance. MYCBP2 transfers Ub to nonlysine substrates via a newly discovered RING-Cys-Relay (RCR) mechanism, where Ub is...
Adaptor Proteins Signal Transducing Animals Axons Binding Sites Cysteine Female Gene Knock-In Techniques Humans Lysine Mice Mice Inbred C57BL Mice Transgenic Models Molecular Molecular Conformation Protein Binding Protein Conformation RING Finger Domains Signal Transduction Structure-Activity Relationship Ubiquitin Ubiquitin-Conjugating Enzymes Ubiquitin-Protein Ligases Ubiquitination
Endogenous HIF2A reporter systems for high-throughput functional screening.
M Nazhif Zaini, Saroor A Patel, Saiful E Syafruddin, Paulo Rodrigues, Sakari Vanharanta
Sep 08, 2018
Tissue-specific transcriptional programs control most biological phenotypes, including disease states such as cancer. However, the molecular details underlying transcriptional specificity is largely unknown, hindering the...
Basic Helix-Loop-Helix Transcription Factors CRISPR-Cas Systems Carcinogenesis Carcinoma Renal Cell Cell Line Tumor Feasibility Studies Gene Expression Profiling Gene Expression Regulation Neoplastic Gene Knock-In Techniques Gene Regulatory Networks Genes Reporter Genetic Testing HEK293 Cells High-Throughput Screening Assays Humans Kidney Neoplasms Transcription Genetic
Edwin Chen, Jong Sook Ahn, David B Sykes, Lawrence J Breyfogle, Anna L Godfrey, Jyoti Nangalia, Amy Ko, Daniel J DeAngelo, Anthony R Green, Ann Mullally
Oct 28, 2015
Animals Apoptosis Cell Line Tumor Cell Survival DNA Breaks Double-Stranded DNA Replication Furans Gene Knock-In Techniques Genomic Instability Humans Hydroxyurea Janus Kinase 2 Mice Mice Inbred C57BL Mutagenesis Site-Directed Neoplasms Phosphatidylinositol 3-Kinases Phosphoinositide-3 Kinase Inhibitors Pyridines Pyrimidines RNA Interference RNA Small Interfering RecQ Helicases Signal Transduction