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Regulation of B Lymphocyte Development by Histone H2A Deubiquitinase BAP1.
Yun Hsiao Lin, Yue Liang, Hanchen Wang, Lin Tze Tung, Michael Förster, Poorani Ganesh Subramani, Javier M Di Noia, Simon Clare, David Langlais, Anastasia Nijnik
Jun 07, 2021
BAP1 is a deubiquitinase (DUB) of the Ubiquitin C-terminal Hydrolase (UCH) family that regulates gene expression and other cellular processes, via deubiquitination of histone H2AK119ub and other substrates. BAP1 is an important...
B Cell Development B cells epigenetic regulation Mouse models Transcriptional regulation Animals B-Lymphocytes Cell Lineage Cell Proliferation Cells Cultured Epigenesis Genetic Female Gene Expression Regulation Developmental Histones Lymphocyte Activation Male Mice Inbred C57BL Mice Knockout Phenotype Precursor Cells B-Lymphoid Protein Processing Post-Translational Transcription Genetic Tumor Suppressor Proteins Ubiquitin Thiolesterase Ubiquitination
Genomic imprinting and its effects on postnatal growth and adult metabolism.
Imprinted genes display parent-of-origin-specific expression with this epigenetic system of regulation found exclusively in therian mammals. Historically, defined imprinted gene functions were almost solely focused on pregnancy...
Diet Environment maternal care Metabolic programming Mouse models obesity Adaptor Proteins Signal Transducing Adult Animals Behavior Animal Body Temperature Regulation Embryo Mammalian Embryonic Development Female Gene Expression Regulation Developmental Genomic Imprinting Humans Male Maternal Inheritance obesity Paternal Inheritance Placenta Pregnancy
RNF168 regulates R-loop resolution and genomic stability in BRCA1/2-deficient tumors.
Parasvi S Patel, Karan Joshua Abraham, Kiran Kumar Naidu Guturi, Marie-Jo Halaby, Zahra Khan, Luis Palomero, Brandon Ho, Shili Duan, Jonathan St-Germain, Arash Algouneh, Francesca Mateo, Samah El Ghamrasni, Haithem Barbour, Daniel R Barnes, Jonathan Beesley, Otto Sanchez, Hal K Berman, Grant W Brown, El Bachir Affar, Georgia Chenevix-Trench, Antonis C Antoniou, Cheryl H Arrowsmith, Brian Raught, Miquel Angel Pujana, Karim Mekhail, Anne Hakem, Razqallah Hakem
Feb 15, 2021
Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes considerably increase breast and ovarian cancer risk. Given that tumors with these mutations have elevated genomic instability, they exhibit relative vulnerability to certain...
Identification of potential therapeutic targets in prostate cancer through a cross-species approach.
Sarah Jurmeister, Antonio Ramos-Montoya, Chiranjeevi Sandi, Nelma Pértega-Gomes, Karan Wadhwa, Alastair D Lamb, Mark J Dunning, Jan Attig, Jason S Carroll, Lee GD Fryer, Sérgio L Felisbino, David E Neal
Mar 28, 2018
Genetically engineered mouse models of cancer can be used to filter genome-wide expression datasets generated from human tumours and to identify gene expression alterations that are functionally important to cancer development...
MELK cross‐species analysis Mouse models new cancer targets prostate cancer Animals Carcinogenesis Cell Line Tumor Cell Proliferation Cell Survival Disease Progression Down-Regulation Gene Expression Profiling Gene Expression Regulation Neoplastic Genome Humans Male Mice Molecular Targeted Therapy Naphthyridines Neoplasm Invasiveness Phenotype Phosphorylation Prostatic Neoplasms Protein Serine-Threonine Kinases Species Specificity Spindle Apparatus Stathmin Transcriptome
Direct targeted therapy for MLL-fusion-driven high-risk acute leukaemias.
Sandra Cantilena, Luca Gasparoli, Deepali Pal, Olaf Heidenreich, Jan-Henning Klusmann, Joost HA Martens, Alexandre Faille, Alan J Warren, Mawar Karsa, Ruby Pandher, Klaartje Somers, Owen Williams, Jasper de Boer
Jul 22, 2022
BACKGROUND: Improving the poor prognosis of infant leukaemias remains an unmet clinical need. This disease is a prototypical fusion oncoprotein-driven paediatric cancer, with MLL (KMT2A)-fusions present in most cases. Direct...
Direct targeted therapy for MLL‐fusion‐driven high‐risk acute leukaemias
Sandra Cantilena, Luca Gasparoli, Deepali Pal, Olaf Heidenreich, Jan‐Henning Klusmann, Joost HA Martens, Alexandre Faille, Alan J Warren, Mawar Karsa, Ruby Pandher, Klaartje Somers, Owen Williams, Jasper de Boer
Jun 29, 2022
Abstract: Background: Improving the poor prognosis of infant leukaemias remains an unmet clinical need. This disease is a prototypical fusion oncoprotein‐driven paediatric cancer, with MLL (KMT2A)‐fusions present in most cases....
Systemic silencing of PHD2 causes reversible immune regulatory dysfunction.
Atsushi Yamamoto, Joanna Hester, Philip S Macklin, Kento Kawai, Masateru Uchiyama, Daniel Biggs, Tammie Bishop, Katherine Bull, Xiaotong Cheng, Eleanor Cawthorne, Mathew L Coleman, Tanya L Crockford, Ben Davies, Lukas E Dow, Rob Goldin, Kamil Kranc, Hiromi Kudo, Hannah Lawson, James McAuliffe, Kate Milward, Cheryl L Scudamore, Elizabeth Soilleux, Fadi Issa, Peter J Ratcliffe, Chris W Pugh
Dec 20, 2019
Physiological effects of cellular hypoxia are sensed by prolyl hydroxylase (PHD) enzymes which regulate HIFs. Genetic interventions on HIF/PHD pathways reveal multiple phenotypes that extend the known biology of hypoxia. Recent...
The Mouse Gastrointestinal Bacteria Catalogue enables translation between the mouse and human gut microbiotas via functional mapping.
Benjamin S Beresford-Jones, Samuel C Forster, Mark D Stares, George Notley, Elisa Viciani, Hilary P Browne, Daniel J Boehmler, Amelia T Soderholm, Nitin Kumar, Kevin Vervier, Justin R Cross, Alexandre Almeida, Trevor D Lawley, Virginia A Pedicord
Jan 31, 2022
bacteria culture collection butyrate commensal bacteria functionally equivalent species Gut microbiota microbial drug metabolism mouse gut metagenomes Mouse models public database translation between mouse and human Animals Bacteria Butyrates Gastrointestinal Microbiome Genome Bacterial Humans Metagenome Mice Models Animal
The Residual Innate Lymphoid Cells in NFIL3-Deficient Mice Support Suboptimal Maternal Adaptations to Pregnancy.
Selma Boulenouar, Jean-Marc Doisne, Amanda Sferruzzi-Perri, Louise M Gaynor, Jens Kieckbusch, Elisa Balmas, Hong Wa Yung, Shagayegh Javadzadeh, Léa Volmer, Delia A Hawkes, Keli Phillips, Hugh JM Brady, Abigail L Fowden, Graham J Burton, Ashley Moffett, Francesco Colucci
Nov 01, 2018
Uterine NK cells are innate lymphoid cells (ILC) that populate the uterus and expand during pregnancy, regulating placental development and fetal growth in humans and mice. We have recently characterized the composition of...
Recommendations for measuring whisker movements and locomotion in mice with sensory, motor and cognitive deficits.
Ugne Simanaviciute, Jewel Ahmed, Richard E Brown, Natalie Connor-Robson, Tracy D Farr, Emre Fertan, Nikki Gambles, Huw Garland, A Jennifer Morton, Jochen F Staiger, Elizabeth A Skillings, Rebecca C Trueman, Richard Wade-Martins, Nigel I Wood, Aimee A Wong, Robyn A Grant
Jan 03, 2020
BACKGROUND: Previous studies have measured whisker movements and locomotion to characterise mouse models of neurodegenerative disease. However, these studies have always been completed in isolation, and do not involve...
Epigenetic Mechanisms of ART-Related Imprinting Disorders
The rising frequency of ART-conceived births is accompanied by the need for an improved understanding of the implications of ART on gametes and embryos. Increasing evidence from mouse models and human epidemiological data...
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Daniel F Burgos, Lorena Cussó, Gentzane Sánchez-Elexpuru, Daniel Calle, Max Bautista Perpinyà, Manuel Desco, José M Serratosa, Marina P Sánchez
Oct 21, 2020
Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with autosomal recessive inheritance. Neuroimaging...
1H-HRMAS MRS FDG PET Lafora disease MRI brain metabolites Mouse models Volumetry Animals Atrophy basal ganglia Brain Brain Diseases cerebellum Cerebral Cortex Disease Models Animal Glucose Hippocampus Humans Lafora Disease Magnetic Resonance Imaging Mice Knockout Mutation Positron-Emission Tomography Protein Tyrosine Phosphatases Non-Receptor Ubiquitin-Protein Ligases
Hyperglycemia does not affect antigen specific activation and cytolytic killing by CD8+ T cells in vivo
Epigenetic Mechanisms of ART-Related Imprinting Disorders
The rising frequency of ART-conceived births is accompanied by the need for an improved understanding of the implications of ART on gametes and embryos. Increasing evidence from mouse models and human epidemiological data...
DNA Methylation assisted reproductive technology Genomic Imprinting iPSCs Imprinting disorders Mouse models Animals DNA Methylation Epigenesis Genetic Female Genetic Diseases Inborn Genomic Imprinting Humans Induced Pluripotent Stem Cells Male Mice Models Animal Pregnancy Reproductive Techniques Assisted
Metabolic rewiring in mutant Kras lung cancer.
Lung cancer is the leading cause of cancer-related death worldwide, reflecting an unfortunate combination of very high prevalence and low survival rates, as most cases are diagnosed at advanced stages when treatment efficacy is...
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.
Silvia Cipriani, Vietxuan Phan, Jean-Jacques Médard, Rita Horvath, Hanns Lochmüller, Roman Chrast, Andreas Roos, Sally Spendiff
Feb 22, 2019
The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations in...
Charcot-Marie-Tooth disease 4C SH3TC2 Demyelination Mouse models Neuromuscular Junction Peripheral neuropathy Animals Carrier Proteins Charcot-Marie-Tooth disease Disease Models Animal Exons Gene Knockdown Techniques Intracellular Signaling Peptides and Proteins Mice Mice Mutant Strains Muscle Skeletal Mutation Neuromuscular Junction Sciatic Nerve