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Christine Fisher Among 2006 Verner Awards Recipients
Winthrop University
Jan 01, 0001
Christine S. Fisher, director of Arts in Basic Curriculum Project at Winthrop, has received one of the 2006 Elizabeth O'Neill Verner Awards. Fisher has promoted arts education in S.C. for more than 20 years.
Published by: Winthrop University
A Contemporary Ars Moriendi?
Christine A Valentine
Jan 01, 0001
A review of Dying into Grace. Mother and Daughter…a Dance of Healing by Artemis March, PhD. Quantum Lens Press: Cambridge, Massachusetts. 344 pp. (ISBN 9780-0-9793967-9-3). $19.95: Reviewed by Christine Valentine.
A Contemporary Ars Moriendi?
Christine A Valentine
Jan 01, 0001
A review of Dying into Grace. Mother and Daughter…a Dance of Healing by Artemis March, PhD. Quantum Lens Press: Cambridge, Massachusetts. 344 pp. (ISBN 9780-0-9793967-9-3). $19.95: Reviewed by Christine Valentine.
Succession narratives in family business
One of the most significant challenges facing family firms is how to successfully manage succession from one generation of leaders to the next. In this paper, we contribute to existing understandings of this complex and...
Spotlight on deep carbon research.
Professor Marie Edmonds is a volcanologist at the University of Cambridge. She is interested in the role of magmatic volatiles in magma genesis, volcanic eruptions, and volatile geochemical cycling. Dr. Robert Hazen is a...
Endowment of Scholarship Honors Late Alumna Anna Marie Hurst '12
Winthrop University
Jan 01, 0001
The Anna Marie Hurst Memorial Scholarship supports students majoring in elementary education, early childhood education or family and consumer sciences. Hurst, a native of Rock Hill, earned her B.S. in family and consumer...
Published by: Winthrop University
Food and societal (dis)order in Marie Darrieussecq’s works
Sandra Daroczi
Jun 30, 2020
This article analyses the way Marie Darrieussecq explores oppositions intrinsic to food, both as a lens that reflects the absurdities of various societal orders and as an instrument to contest, respond to, and subvert these...
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Cornelis A Albers, Ana Cvejic, Rémi Favier, Evelien E Bouwmans, Marie-Christine Alessi, Paul Bertone, Gregory Jordan, Ross NW Kettleborough, Graham Kiddle, Myrto Kostadima, Randy J Read, Botond Sipos, Suthesh Sivapalaratnam, Peter A Smethurst, Jonathan Stephens, Katrin Voss, Alan Nurden, Augusto Rendon, Paquita Nurden, Willem H Ouwehand
Aug 20, 2020
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare...
Adult Aged Animals Animals Genetically Modified Base Sequence Blood Platelets Cytoplasmic Granules Embryo Nonmammalian Female Gene Expression Regulation Developmental Gray Platelet Syndrome Humans Male Middle Aged Molecular Sequence Data Nerve Tissue Proteins Pedigree Secretory Vesicles Sequence Analysis DNA Sequence Homology Nucleic Acid Young Adult Zebrafish
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia
Pierre-Emmanuel Morange, Franck Peiretti, Lenaick Gourhant, Carole Proust, Omar Soukarieh, Anne-Sophie Pulcrano-Nicolas, Ganapathi-Varma Saripella, Luca Stefanucci, Romaric Lacroix, Manal Ibrahim-Kosta, Catherine A Lemarié, Mattia Frontini, Marie-Christine Alessi, David-Alexandre Trégouët, Francis Couturaud
Jan 29, 2021
Rare variants outside the classical coagulation cascade might cause inherited thrombosis. We aimed to identify the variant(s) causing venous thromboembolism (VTE) in a family with multiple relatives affected with unprovoked VTE...
Adult Endothelial Cells Female Genetic Predisposition to Disease HEK293 Cells Humans Lipoproteins Male Microtubule-Associated Proteins Middle Aged Mutation Pedigree Plasminogen Activator Inhibitor 1 Protein Serine-Threonine Kinases Risk Factors Thrombophilia venous thromboembolism venous thrombosis Exome Sequencing
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Julius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, Elaine M Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet-Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B Harms, Henna Tyynismaa, Emil Ylikallio
Nov 13, 2020
OBJECTIVE: ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that...
Foix-Chavany-Marie syndrome secondary to bilateral traumatic operculum injury.
This report describes a case of a 62-year-old man who developed Foix-Chavany-Marie syndrome subsequent to traumatic brain injury. The initial presentation of the syndrome was profound loss of voluntary control of orofacial...
The Grizzly, April 25, 2024
Marie Sykes, Ellie Burns, Kathy Logan, Sean McGinley, Kate Horan, Mairead McDermott, Georgia Gardner, Adam Denn, Renie Christensen, Dominic Minicozzi
Jan 01, 0001
Weaving Stories Into Dance CoSA Coming This Wednesday! Ursinus Students Present Biology Projects in San Diego Editor's Note Marie Sykes: Editor-in-Chief Signing Off Grizzly Editorial Team: Senior Goodbyes Grizzly Editorial...
Ursinus College Collegeville Pennsylvania newspaper Ursinus College Dance Company Celebration of Student Achievement Zoe Moosbrugger Kyle Schantz Marie Sykes Mairead McDermott Renie Christensen Sean McGinley golf lacrosse softball tennis track team Dominic Minicozzi cultural history Higher Education Liberal Studies Social History United States History
Published by: Ursinus College
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
James R Edgar, Anita K Ho, Matilde Laurá, Rita Horvath, Mary M Reilly, J Paul Luzio, Rhys C Roberts
Sep 28, 2020
Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
Charcot–Marie–Tooth endosome LITAF lysosome Peripheral neuropathy phosphoinositide Adult Charcot-Marie-Tooth disease Endosomes Female FIBROBLASTS Flavoproteins Gene Knockout Techniques Humans Loss of Function Mutation Lysosomes Male Microscopy Confocal Microscopy Electron Middle Aged Nuclear Proteins Phosphoric Monoester Hydrolases Transcription Factors Transient Receptor Potential Channels Vacuoles
Food and societal (dis)order in Marie Darrieussecq’s works
Sandra Daroczi
Jun 30, 2020
This article analyses the way Marie Darrieussecq explores oppositions intrinsic to food, both as a lens that reflects the absurdities of various societal orders and as an instrument to contest, respond to, and subvert these...
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Marjorie Poggi, Matthias Canault, Marie Favier, Ernest Turro, Paul Saultier, Dorsaf Ghalloussi, Veronique Baccini, Lea Vidal, Anna Mezzapesa, Nadjim Chelghoum, Badreddine Mohand-Oumoussa, Céline Falaise, Rémi Favier, Willem H Ouwehand, Mathieu Fiore, Franck Peiretti, Pierre Emmanuel Morange, Noémie Saut, Denis Bernot, Andreas Greinacher, Nihr BioResource, Alan T Nurden, Paquita Nurden, Kathleen Freson, David-Alexandre Trégouët, Hana Raslova, Marie-Christine Alessi
May 31, 2018
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA...
Antigens CD34 Blood Cell Count Blood Platelets Cell Differentiation Family Female Gene Expression Regulation Genotype Germ-Line Mutation Hematopoietic Stem Cells Humans Hyperplasia Male Megakaryocytes Pedigree Phenotype Platelet Count Proto-Oncogene Proteins c-ets Repressor Proteins Thrombopoiesis Transcription Genetic
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease
James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts
Oct 18, 2021
Abstract: Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot–Marie–Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease
James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts
Oct 15, 2020
Abstract: Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot–Marie–Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
Fostering Competency Development Through Knowledge Sharing Capabilities in Onboarding
The study proposes and empirically validates a theoretical model suggesting that employee competency development during the onboarding period largely depends on the availability of knowledge sharing (KS) channels (both digital...
Published by: IGI Global Scientific Publishing
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Sarah K Westbury, Matthias Canault, Daniel Greene, Emilse Bermejo, Katharine Hanlon, Michele P Lambert, Carolyn M Millar, Paquita Nurden, Samya G Obaji, Shoshana Revel-Vilk, Chris van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher Watt, NIHR BioResource–Rare Diseases Consortium, Kathleen Freson, Michael A Laffan, Willem H Ouwehand, Marie-Christine Alessi, Ernest Turro, Andrew D Mumford
May 31, 2018
Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterized. Pathogenic variants in RASGRP2, which encodes calcium and diacylglycerol-regulated guanine exchange factor I (CalDAG-GEFI)...
Natural history of Charcot-Marie-Tooth disease type 2A
Menelaos Pipis, Shawna ME Feely, James M Polke, Mariola Skorupinska, Laura Perez, Rosemary R Shy, Matilde Laura, Jasper M Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujovic, Thomas E Lloyd, Gyula Acsadi, Sabrina W Yum, Richard A Lewis, Richard S Finkel, David N Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horvath, Nicholas E Johnson, Stephan Züchner, Davide Pareyson, Steven S Scherer, Alexander M Rossor, Michael E Shy, Mary M Reilly, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Oct 15, 2020
Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth...
Charcot-Marie-Tooth Examination Score v2.0 Charcot-Marie-Tooth disease type 2A genotype-phenotype correlations mitofusin-2 standardized response mean Adolescent Adult Age of Onset Charcot-Marie-Tooth disease Child Child Preschool Cohort Studies Disease Progression Female GTP Phosphohydrolases Genes Dominant Genes Recessive Genetic Association Studies Genetic Markers Humans Infant Longitudinal Studies Male Mitochondrial Proteins Neurologic Examination Orthotic Devices Prognosis Prospective Studies Wheelchairs Young Adult
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Francis B Panosyan, Matilde Laura, Alexander M Rossor, Chiara Pisciotta, Giuseppe Piscosquito, Joshua Burns, Jun Li, Sabrina W Yum, Richard A Lewis, John Day, Rita Horvath, David N Herrmann, Michael E Shy, Davide Pareyson, Mary M Reilly, Steven S Scherer, Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)
Mar 07, 2019
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report...
Exploring Catalyst Behaviours
The ‘Exploring catalyst behaviours’ project continues Defra’s programme of research designed to develop a deeper understanding of pro-environmental behaviour. The research, conducted by Brook Lyndhurst, Dr Julie Barnett of the...
Published by: Department of Environment, Food and Rural Affairs
Exploring Catalyst Behaviours
The ‘Exploring catalyst behaviours’ project continues Defra’s programme of research designed to develop a deeper understanding of pro-environmental behaviour. The research, conducted by Brook Lyndhurst, Dr Julie Barnett of the...
Published by: Department of Environment, Food and Rural Affairs
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