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Results: 132
Large-scale discovery of novel genetic causes of developmental disorders.
Deciphering Developmental Disorders Study
Feb 01, 2021
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders, up to half of children with severe developmental disorders of probable genetic origin remain without a...
Adolescent Animals Carrier Proteins Child Child Preschool Chromosomal Proteins Non-Histone Chromosome Aberrations DEAD-box RNA Helicases DNA-Binding Proteins Developmental Disabilities Dynamin I Exome Female Gene Expression Regulation Developmental Genes Dominant Genome Human Guanine Nucleotide Exchange Factors Homeodomain Proteins Humans Infant Infant Newborn Male Mutation Missense Nerve Tissue Proteins Nuclear Proteins Parents Phosphoproteins Polycomb Repressive Complex 1 Protein Phosphatase 2 Protein Serine-Threonine Kinases Rare Diseases Repressor Proteins Transcription Factors Transposases United Kingdom Zebrafish
Stability and dynamics of polycomb target sites in Drosophila development.
Camilla Kwong, Boris Adryan, Ian Bell, Lisa Meadows, Steven Russell, J Robert Manak, Robert White
Mar 27, 2020
Polycomb-group (PcG) and Trithorax-group proteins together form a maintenance machinery that is responsible for stable heritable states of gene activity. While the best-studied target genes are the Hox genes of the Antennapedia...
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
Somatic drivers of B-ALL in a model of ETV6-RUNX1; Pax5(+/-) leukemia.
Louise van der Weyden, George Giotopoulos, Kim Wong, Alistair G Rust, Carla Daniela Robles-Espinoza, Hikari Osaki, Brian J Huntly, David J Adams
Sep 29, 2016
BACKGROUND: B-cell precursor acute lymphoblastic leukemia (B-ALL) is amongst the leading causes of childhood cancer-related mortality. Its most common chromosomal aberration is the ETV6-RUNX1 fusion gene, with ~25% of ETV6-RUNX1...
Requirement for STAT3 and its target, TFCP2L1, in self-renewal of naïve pluripotent stem cells in vivo and in vitro.
Sophie Kraunsoe, Takuya Azami, Yihan Pei, Graziano Martello, Kenneth Jones, Thorsten Boroviak, Jennifer Nichols
Jan 17, 2023
Reprogramming Human Adult Fibroblasts into GABAergic Interneurons.
Andreas Bruzelius, Srisaiyini Kidnapillai, Janelle Drouin-Ouellet, Tom Stoker, Roger A Barker, Daniella Rylander Ottosson
Jan 28, 2022
Direct reprogramming is an appealing strategy to generate neurons from a somatic cell by forced expression of transcription factors. The generated neurons can be used for both cell replacement strategies and disease modelling....
adult skin cells calbindin direct reprogramming disease-modelling Electrophysiology iN neuronal conversion Adult Brain Diseases Cell Differentiation Cellular Reprogramming Cognitive Dysfunction FIBROBLASTS GABAergic Neurons Gene Expression Regulation Humans Interneurons Neurogenesis Neuroglia Repressor Proteins Skin gamma-Aminobutyric Acid
A fragment merging approach towards the development of small molecule inhibitors of Mycobacterium tuberculosis EthR for use as ethionamide boosters.
Petar O Nikiforov, Sachin Surade, Michal Blaszczyk, Vincent Delorme, Priscille Brodin, Alain R Baulard, Tom L Blundell, Chris Abell
Jan 19, 2016
Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
Alison P Klein, Brian M Wolpin, Harvey A Risch, Rachael Z Stolzenberg-Solomon, Evelina Mocci, Mingfeng Zhang, Federico Canzian, Erica J Childs, Jason W Hoskins, Ashley Jermusyk, Jun Zhong, Fei Chen, Demetrius Albanes, Gabriella Andreotti, Alan A Arslan, Ana Babic, William R Bamlet, Laura Beane-Freeman, Sonja I Berndt, Amanda Blackford, Michael Borges, Ayelet Borgida, Paige M Bracci, Lauren Brais, Paul Brennan, Hermann Brenner, Bas Bueno-de-Mesquita, Julie Buring, Daniele Campa, Gabriele Capurso, Giulia Martina Cavestro, Kari G Chaffee, Charles C Chung, Sean Cleary, Michelle Cotterchio, Frederike Dijk, Eric J Duell, Lenka Foretova, Charles Fuchs, Niccola Funel, Steven Gallinger, J Michael M Gaziano, Maria Gazouli, Graham G Giles, Edward Giovannucci, Michael Goggins, Gary E Goodman, Phyllis J Goodman, Thilo Hackert, Christopher Haiman, Patricia Hartge, Manal Hasan, Peter Hegyi, Kathy J Helzlsouer, Joseph Herman, Ivana Holcatova, Elizabeth A Holly, Robert Hoover, Rayjean J Hung, Eric J Jacobs, Krzysztof Jamroziak, Vladimir Janout, Rudolf Kaaks, Kay-Tee Khaw, Eric A Klein, Manolis Kogevinas, Charles Kooperberg, Matthew H Kulke, Juozas Kupcinskas, Robert J Kurtz, Daniel Laheru, Stefano Landi, Rita T Lawlor, I-Min Lee, Loic Lemarchand, Lingeng Lu, Núria Malats, Andrea Mambrini, Satu Mannisto, Roger L Milne, Beatrice Mohelníková-Duchoňová, Rachel E Neale, John P Neoptolemos, Ann L Oberg, Sara H Olson, Irene Orlow, Claudio Pasquali, Alpa V Patel, Ulrike Peters, Raffaele Pezzilli, Miquel Porta, Francisco X Real, Nathaniel Rothman, Ghislaine Scelo, Howard D Sesso, Gianluca Severi, Xiao-Ou Shu, Debra Silverman, Jill P Smith, Pavel Soucek, Malin Sund, Renata Talar-Wojnarowska, Francesca Tavano, Mark D Thornquist, Geoffrey S Tobias, Stephen K Van Den Eeden, Yogesh Vashist, Kala Visvanathan, Pavel Vodicka, Jean Wactawski-Wende, Zhaoming Wang, Nicolas Wentzensen, Emily White, Herbert Yu, Kai Yu, Anne Zeleniuch-Jacquotte, Wei Zheng, Peter Kraft, Donghui Li, Stephen Chanock, Ofure Obazee, Gloria M Petersen, Laufey T Amundadottir
Jul 31, 2018
In 2020, 146,063 deaths due to pancreatic cancer are estimated to occur in Europe and the United States combined. To identify common susceptibility alleles, we performed the largest pancreatic cancer GWAS to date, including 9040...
Carcinoma Pancreatic Ductal Databases Genetic Genetic Predisposition to Disease Genome-Wide Association Study Hepatocyte Nuclear Factor 1-beta Hepatocyte Nuclear Factor 4 Humans Intercellular Signaling Peptides and Proteins Intracellular Signaling Peptides and Proteins Pancreatic Neoplasms Polymorphism Single Nucleotide Proteins Repressor Proteins Tensins
ZNF445 is a primary regulator of genomic imprinting.
Nozomi Takahashi, Andrea Coluccio, Christian W Thorball, Evarist Planet, Hui Shi, Sandra Offner, Priscilla Turelli, Michael Imbeault, Anne C Ferguson-Smith, Didier Trono
Jan 17, 2019
Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation, causing parental origin-specific monoallelic gene expression. Zinc finger protein 57 (ZFP57) is critical for maintenance of this...
KRAB zinc finger proteins ZFP445 ZFP57 genomic imprint maintenance resistance to epigenetic reprogramming Animals Cells Cultured Conserved Sequence DNA Methylation Embryonic Stem Cells Genomic Imprinting HEK293 Cells Humans Kruppel-Like Transcription Factors Mice Mice Inbred C57BL Repressor Proteins Transcription Factors
Transcriptional dynamics elicited by a short pulse of notch activation involves feed-forward regulation by E(spl)/Hes genes.
Ben E Housden, Audrey Q Fu, Alena Krejci, Fred Bernard, Bettina Fischer, Simon Tavaré, Steven Russell, Sarah J Bray
Mar 27, 2020
Dynamic activity of signaling pathways, such as Notch, is vital to achieve correct development and homeostasis. However, most studies assess output many hours or days after initiation of signaling, once the outcome has been...
Animals Basic Helix-Loop-Helix Transcription Factors Binding Sites Conserved Sequence DNA-Binding Proteins Drosophila Drosophila Proteins Gene Expression Regulation Developmental Humans RNA Polymerase II Receptors Notch Repressor Proteins Signal Transduction Transcription Genetic Transcriptional Activation
Global and stage specific patterns of Krüppel-associated-box zinc finger protein gene expression in murine early embryonic cells.
Andrea Corsinotti, Adamandia Kapopoulou, Carine Gubelmann, Michael Imbeault, Francesca R Santoni de Sio, Helen M Rowe, Yoann Mouscaz, Bart Deplancke, Didier Trono
Dec 12, 2019
Highly coordinated transcription networks orchestrate the self-renewal of pluripotent stem cell and the earliest steps of mammalian development. KRAB-containing zinc finger proteins represent the largest group of transcription...
Identification of a lysosomal pathway regulating degradation of the bone morphogenetic protein receptor type II.
Hannah J Durrington, Paul D Upton, Simon Hoer, Jessica Boname, Benjamin J Dunmore, Jun Yang, Trina K Crilley, Lynn M Butler, David J Blackbourn, Gerard B Nash, Paul J Lehner, Nicholas W Morrell
Aug 28, 2020
Bone morphogenetic proteins (BMPs) are critically involved in early development and cell differentiation. In humans, dysfunction of the bone morphogenetic protein type II receptor (BMPR-II) is associated with pulmonary arterial...
CITED2 coordinates key hematopoietic regulatory pathways to maintain the HSC pool in both steady-state hematopoiesis and transplantation.
Hannah Lawson, Louie N van de Lagemaat, Melania Barile, Andrea Tavosanis, Jozef Durko, Arnaud Villacreces, Aarushi Bellani, Christopher Mapperley, Elise Georges, Catarina Martins-Costa, Catarina Sepulveda, Lewis Allen, Joana Campos, Kirsteen J Campbell, Dónal O'Carroll, Berthold Göttgens, Suzanne Cory, Neil P Rodrigues, Amelie V Guitart, Kamil R Kranc
Oct 06, 2021
Hematopoietic stem cells (HSCs) reside at the apex of the hematopoietic differentiation hierarchy and sustain multilineage hematopoiesis. Here, we show that the transcriptional regulator CITED2 is essential for life-long HSC...
CITED2 MCL-1 PTEN Hematopoiesis Hematopoietic stem cell Animals Apoptosis Cell Proliferation Gene Expression Regulation Gene Regulatory Networks Hematopoiesis Hematopoietic Stem Cell Transplantation Hematopoietic Stem Cells Mice Inbred C57BL Mice Knockout RNA-seq Repressor Proteins Reverse Transcriptase Polymerase Chain Reaction Signal Transduction Time Factors Trans-Activators
Full-length NF-κB repressing factor contains an XRN2 binding domain.
Jana Alexandrova, David Piñeiro, Rebekah Jukes-Jones, Ryan Mordue, Mark Stoneley, Anne E Willis
Mar 06, 2020
NF-κB repressing factor (NKRF) was recently identified as an RNA binding protein that together with its associated proteins, the 5'-3' exonuclease XRN2 and the helicase DHX15, is required to process the precursor ribosomal RNA....
Notch Mediates Inter-tissue Communication to Promote Tumorigenesis.
Disease progression in many tumor types involves the interaction of genetically abnormal cancer cells with normal stromal cells. Neoplastic transformation in a Drosophila genetic model of epidermal growth factor receptor...
Delta Drosophila Notch Zfh1/ZEB cell-cell signaling cytonemes inter-tissue signaling tumor tumor-stroma interaction Animals Carcinogenesis Cell Line Cell Transformation Neoplastic Drosophila Proteins Drosophila melanogaster Epithelial-Mesenchymal Transition Gene Expression Regulation Neoplastic Intracellular Signaling Peptides and Proteins Membrane Proteins Myoblasts Receptors Notch Repressor Proteins Signal Transduction
The interactome of KRAB zinc finger proteins reveals the evolutionary history of their functional diversification.
Pierre-Yves Helleboid, Moritz Heusel, Julien Duc, Cécile Piot, Christian W Thorball, Andrea Coluccio, Julien Pontis, Michaël Imbeault, Priscilla Turelli, Ruedi Aebersold, Didier Trono
Dec 12, 2019
Krüppel-associated box (KRAB)-containing zinc finger proteins (KZFPs) are encoded in the hundreds by the genomes of higher vertebrates, and many act with the heterochromatin-inducing KAP1 as repressors of transposable elements...
Sin3A recruits Tet1 to the PAH1 domain via a highly conserved Sin3-Interaction Domain.
The Sin3A complex acts as a transcriptional hub, integrating the function of diverse transcription factors with histone modifying enzymes, notably, histone deacetylases (HDAC) 1 and 2. The Sin3A protein sits at the centre of the...
Amino Acid Substitution DNA Mutational Analysis HEK293 Cells Humans Magnetic Resonance Spectroscopy Mixed Function Oxygenases Models Molecular Protein Binding Protein Conformation Protein Domains Protein Interaction Mapping Proto-Oncogene Proteins Repressor Proteins Sin3 Histone Deacetylase and Corepressor Complex
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Andrea Legati, Aurelio Reyes, Alessia Nasca, Federica Invernizzi, Eleonora Lamantea, Valeria Tiranti, Barbara Garavaglia, Costanza Lamperti, Anna Ardissone, Isabella Moroni, Alan Robinson, Daniele Ghezzi, Massimo Zeviani
Jul 03, 2019
Next Generation Sequencing (NGS) technologies are revolutionizing the diagnostic screening for rare disease entities, including primary mitochondrial disorders, particularly those caused by nuclear gene defects. NGS approaches...
E4F1 mitochondrial disorders Next generation sequencing Whole exome sequencing Adolescent Amino Acid Sequence Child Child Preschool Cohort Studies DNA Mitochondrial Electron Transport Electron Transport Chain Complex Proteins Exome Female Gene Expression Heterozygote High-Throughput Nucleotide Sequencing Homozygote Humans Infant Male Mitochondria Mitochondrial Diseases Molecular Sequence Data Mutation Repressor Proteins Sequence Alignment Ubiquitin-Protein Ligases Young Adult
Cohesin-dependent regulation of gene expression during differentiation is lost in cohesin-mutated myeloid malignancies.
Daniel Sasca, Haiyang Yun, George Giotopoulos, Jakub Szybinski, Theo Evan, Nicola K Wilson, Moritz Gerstung, Paolo Gallipoli, Anthony R Green, Robert Hills, Nigel Russell, Cameron S Osborne, Elli Papaemmanuil, Berthold Göttgens, Peter Campbell, Brian JP Huntly
Oct 03, 2019
Cohesin complex disruption alters gene expression, and cohesin mutations are common in myeloid neoplasia, suggesting a critical role in hematopoiesis. Here, we explore cohesin dynamics and regulation of hematopoietic stem cell...
Biomarkers Tumor Cell Cycle Proteins Cell Line Tumor Chromosomal Proteins Non-Histone Female Gene Dosage Gene Expression Regulation Leukemic Hematopoietic Stem Cells Histones Humans Male Mutation Myeloproliferative Disorders Neoplasm Grading Protein Binding Proto-Oncogene Proteins c-ets Regulatory Sequences Nucleic Acid Repressor Proteins
REST selectively represses a subset of RE1-containing neuronal genes in mouse embryonic stem cells.
Helle F Jørgensen, Anna Terry, Chiara Beretta, C Filipe Pereira, Marion Leleu, Zhou-Feng Chen, Claire Kelly, Matthias Merkenschlager, Amanda G Fisher
May 04, 2018
REST is a transcriptional repressor that targets a group of neuronal genes in non-neuronal cells. In embryonic stem (ES) cells, REST has been implicated in controlling the expression of transcription factor genes that are...
REST suppression mediates neural conversion of adult human fibroblasts via microRNA-dependent and -independent pathways.
Janelle Drouin-Ouellet, Shong Lau, Per Ludvik Brattås, Daniella Rylander Ottosson, Karolina Pircs, Daniela A Grassi, Lucy M Collins, Romina Vuono, Annika Andersson Sjöland, Gunilla Westergren-Thorsson, Caroline Graff, Lennart Minthon, Håkan Toresson, Roger A Barker, Johan Jakobsson, Malin Parmar
Nov 27, 2017
Direct conversion of human fibroblasts into mature and functional neurons, termed induced neurons (iNs), was achieved for the first time 6 years ago. This technology offers a promising shortcut for obtaining patient- and...
Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis.
J He, HM Cooper, A Reyes, M Di Re, H Sembongi, TR Litwin, J Gao, KC Neuman, IM Fearnley, A Spinazzola, JE Walker, IJ Holt
Aug 11, 2017
ATPases Associated with Diverse Cellular Activities Adenosine Triphosphatases Cell Cycle Proteins Cell Line Tumor DNA Mitochondrial HEK293 Cells Humans Membrane Proteins Mitochondria Mitochondrial Proteins Nuclear Proteins Nucleoproteins Protein Biosynthesis RNA RNA Messenger RNA Mitochondrial Repressor Proteins Ribosomes
Stabilization of Hfq-mediated translational repression by the co-repressor Crc in Pseudomonas aeruginosa.
Ewelina M Malecka, Flavia Bassani, Tom Dendooven, Elisabeth Sonnleitner, Marlena Rozner, Tanino G Albanese, Armin Resch, Ben Luisi, Sarah Woodson, Udo Bläsi
Sep 05, 2021
In Pseudomonas aeruginosa the RNA chaperone Hfq and the catabolite repression control protein (Crc) govern translation of numerous transcripts during carbon catabolite repression. Here, Crc was shown to enhance Hfq-mediated...
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik, Alex Stuckey, Christopher A Odhams, Susan Walker, Clark D Russell, Tomas Malinauskas, Yang Wu, Jonathan Millar, Xia Shen, Katherine S Elliott, Fiona Griffiths, Wilna Oosthuyzen, Kirstie Morrice, Sean Keating, Bo Wang, Daniel Rhodes, Lucija Klaric, Marie Zechner, Nick Parkinson, Afshan Siddiq, Peter Goddard, Sally Donovan, David Maslove, Alistair Nichol, Malcolm G Semple, Tala Zainy, Fiona Maleady-Crowe, Linda Todd, Shahla Salehi, Julian Knight, Greg Elgar, Georgia Chan, Prabhu Arumugam, Christine Patch, Augusto Rendon, David Bentley, Clare Kingsley, Jack A Kosmicki, Julie E Horowitz, Aris Baras, Goncalo R Abecasis, Manuel AR Ferreira, Anne Justice, Tooraj Mirshahi, Matthew Oetjens, Daniel J Rader, Marylyn D Ritchie, Anurag Verma, Tom A Fowler, Manu Shankar-Hari, Charlotte Summers, Charles Hinds, Peter Horby, Lowell Ling, Danny McAuley, Hugh Montgomery, Peter JM Openshaw, Paul Elliott, Timothy Walsh, Albert Tenesa, GenOMICC Investigators, 23andMe Investigators, COVID-19 Human Genetics Initiative, Angie Fawkes, Lee Murphy, Kathy Rowan, Chris P Ponting, Veronique Vitart, James F Wilson, Jian Yang, Andrew D Bretherick, Richard H Scott, Sara Clohisey Hendry, Loukas Moutsianas, Andy Law, Mark J Caulfield, J Kenneth Baillie
Jul 07, 2022
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2-4 after infection with SARS-CoV-2. The GenOMICC...
ATP-Binding Cassette Transporters covid-19 Cell Adhesion Molecules Critical Care Critical Illness E-Selectin Factor VIII Fucosyltransferases Genome Human Genome-Wide Association Study Host-Pathogen Interactions Humans Interleukin-10 Receptor beta Subunit Lectins C-Type Mucin-1 Nerve Tissue Proteins Phospholipid Transfer Proteins Receptors Cell Surface Repressor Proteins SARS-CoV-2 whole genome sequencing
Identification of aceNKPs, a committed common progenitor population of the ILC1 and NK cell continuum.
Noe Rodriguez-Rodriguez, Paula A Clark, Mayuri Gogoi, Ana CF Ferreira, Bernhard Kerscher, Alastair Crisp, Helen E Jolin, Jane E Murphy, Meera Sivasubramaniam, Luisa Pedro, Jennifer A Walker, Morgan WD Heycock, Jacqueline D Shields, Jillian L Barlow, Andrew NJ McKenzie
Jan 12, 2023
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