Results 51 to 60 of about 47,080 (263)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

The GOSSIP on the MCV V347 Pav

, 1998
Modelling of the polarized cyclotron emission from magnetic cataclysmic variables (MCVs) has been a powerful technique for determining the structure of the accretion zones on the white dwarf. Until now, this has been achieved by constructing emission regions (for example arcs and spots) put in by hand, in order to recover the polarized emission.
Potter, S. B., Cropper, Mark, Hakala, Pasi   +2 more
openaire   +2 more sources

MCV and Merkel cell carcinoma: a molecular success story [PDF]

Current Opinion in Virology, 2012
Merkel cell polyomavirus (MCV), discovered in 2008, is clonally integrated in ~80% Merkel cell carcinoma (MCC). MCV is a common skin flora and initiates cancer in susceptible hosts only after it acquires a precise set of mutations that render it replication incompetent. Both MCV large and small T proteins promote cancer cell survival and proliferation.
Reety, Arora, Yuan, Chang, Patrick S, Moore   +2 more
openaire   +2 more sources

Working with laws, regularities and singularities in biology: The evolution of mammalian red blood cell size as a case study

The Anatomical Record, EarlyView.
Abstract Phylogenetic comparative methods have been used in recent literature to work with laws and test for regularities (evolutionary associations of quantitative features) and evolutionary singularities (features that evolved in a single taxon). We analyzed these uses epistemologically, taking the evolution of red‐blood‐cell mean corpuscular volume (
Jorge Cubo, Paul Aubier, Cassandra Cheyron, Isabelle Drouet   +3 more
wiley   +1 more source

Cost-effectiveness of alternate strategies for childhood immunization against meningococcal disease with monovalent and quadrivalent conjugate vaccines in Canada.

PLoS ONE, 2017
BackgroundPublic health programs to prevent invasive meningococcal disease (IMD) with monovalent serogroup C meningococcal conjugate vaccine (MCV-C) and quadrivalent meningococcal conjugate vaccines (MCV-4) in infancy and adolescence vary across Canadian
Thomas E Delea, Derek Weycker, Mark Atwood, Dion Neame, Fabián P Alvarez, Evelyn Forget, Joanne M Langley, Ayman Chit   +7 more
doaj   +1 more source

Quantitation of human seroresponsiveness to Merkel cell polyomavirus.

PLoS Pathogens, 2009
Merkel cell carcinoma (MCC) is a relatively uncommon but highly lethal form of skin cancer. A majority of MCC tumors carry DNA sequences derived from a newly identified virus called Merkel cell polyomavirus (MCV or MCPyV), a candidate etiologic agent ...
Diana V Pastrana, Yanis L Tolstov, Jürgen C Becker, Patrick S Moore, Yuan Chang, Christopher B Buck   +5 more
doaj   +1 more source

DETECTing Merkel Cell Polyomavirus in Merkel Tumors

Frontiers in Molecular Biosciences, 2020
Merkel cell carcinoma (MCC) is a rare, aggressive skin cancer caused either by Merkel cell polyomavirus (MCV) T antigen expression, post-integration (~80% cases), or by UV-mediated DNA damage.
Reety Arora, Komal Gupta, Komal Gupta, Anjali Vijaykumar, Sudhir Krishna   +4 more
doaj   +1 more source

Trichodysplasia spinulosa-associated polyomavirus (TSV) and Merkel cell polyomavirus: correlation between humoral and cellular immunity stronger with TSV. [PDF]

PLoS ONE, 2012
Merkel Cell Polyomavirus (MCV) is a common infectious agent likely to be involved in the pathogenesis of most Merkel cell carcinomas (MCC). Trichodysplasia spinulosa-associated polyomavirus (TSV), which exhibit high seroprevalence in general population ...
Arun Kumar, Anu Kantele, Tommi Järvinen, Tingting Chen, Heli Kavola, Mohammadreza Sadeghi, Klaus Hedman, Rauli Franssila   +7 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Projected XMM Vision for MCVs

, 1998
To be published in Proc Annapolis workshop on magnetic CVs, held in July ...
James, Cynthia H., Branduardi-Raymont, Graziella, Cropper, Mark   +2 more
openaire   +2 more sources