Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Eloisa Carta"'
Autor:
Jeff S Davies, Seo-Kyung Chung, Rhys H Thomas, Angela Robinson, Carrie L Hammond, Jonathan G L Mullins, Eloisa Carta, Brian R Pearce, Kirsten Harvey, Robert J Harvey, Mark I Rees
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 3 (2010)
Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acou
Externí odkaz:
https://doaj.org/article/ba58d2bc7f0a425cad44123b79781c6e
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 2 (2010)
Glycine is a major inhibitory neurotransmitter in the spinal cord and brainstem. Recently, in vivo analysis of glycinergic synaptic transmission has been pursued in zebrafish using molecular genetics. An ENU mutagenesis screen identified two behavior
Externí odkaz:
https://doaj.org/article/02004b15d69f4325b3401fd399769d88
Autor:
Robert J Harvey, Eloisa Carta, Brian R Pearce, Seo-Kyung Chung, Stéphane Supplisson, Mark I Rees, Kirsten Harvey
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 1 (2008)
Defects in mammalian glycinergic neurotransmission result in a complex motor disorder characterized by neonatal hypertonia and an exaggerated startle refl ex, known as hyperekplexia (OMIM 149400). This affects newborn children and is characterized by
Externí odkaz:
https://doaj.org/article/4e27d8c72fd3467f956eb43c46d6ea0c
Autor:
Jennifer Gill, Eloisa Carta, G. Hateley, S.F.E. Scholes, Victoria M. James, Robert J. Harvey, Maya Topf, D. Harris
Publikováno v:
Animal Genetics. 43:267-270
Two newborn Belgian Blue calves from a farm in the United Kingdom exhibited lateral recumbency, low head carriage and transient muscle spasms following tactile or auditory stimulation. DNA sequence analysis indicated that both calves were homozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eeb82e7f97710b42977841a83dd1a30d
https://doi.org/10.1111/j.1365-2052.2011.02255.x
https://doi.org/10.1111/j.1365-2052.2011.02255.x
Autor:
Bernhard Lüscher, Kirsten Harvey, Robert J. Harvey, Leda Dalprà, Eloisa Carta, Andreas Tzschach, Hans-Hilger Ropers, Kanamarlapudi Venkateswarlu, Reinhard Ullmann, Cheng Fang, Luciana Musante, Angelo Selicorni, Niels Tommerup, Vera M. Kalscheuer, Celine Fuchs, Corinna Menzel, Kirsten Hoffmann, Emma Deas
Publikováno v:
Human Mutation. 30:61-68
Clustering of inhibitory gamma-aminobutyric acid(A) (GABA(A)) and glycine receptors at synapses is thought to involve key interactions between the receptors, a "scaffolding" protein known as gephyrin and the RhoGEF collybistin. We report the identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1154b63ceca58c449b0ae38aae4c22e
https://doi.org/10.1002/humu.20814
https://doi.org/10.1002/humu.20814
Autor:
Frédéric Rollin, Xavier Hubin, Nadine Cambisano, Robert J. Harvey, Corinne Fasquelle, Latifa Karim, Nico Tama, Wouter Coppieters, Matthew Peter Kent, Sigbjørn Lien, Patricia Simon, Marc Dive, Daniel Desmecht, Maria Longeri, Jean-Claude Frennet, Kirsten Harvey, Brian Pearce, Jørgen S. Agerholm, Michel Georges, Sébastien Vandeputte, Eloisa Carta, Haisheng Nie, R. Hanset, Claus Jørgensen, S. Dardano, Merete Fredholm, Carole Charlier
Publikováno v:
Nature Genetics. 40:449-454
The widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defects, which cause significant economic and animal welfare concerns. Here we show that the availability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f71c950c811cbdf8d93fc7193e12fa
https://doi.org/10.1038/ng.96
https://doi.org/10.1038/ng.96
Autor:
Adnan Y. Manzur, Kate Sinclair, Mireria Del Toro, Serge Rivera, Jean-Francois Vanbellinghen, Eloisa Carta, Jennifer Gill, Victoria M. James, Catriona A. Stuart, Grahame Wise, Rita Shiang, Stéphane Supplisson, Duncan Cameron, Marina A. J. Tijssen, Kirsten Harvey, Cheney Drew, Frances M. Cowan, Sameer M. Zuberi, Rhys H. Thomas, Mark I. Rees, Seo-Kyung Chung, Brian Pearce, Angela Robinson, Robert J. Harvey, Amira Masri, Nathalie Remy, Sophie Cagdas, Gail E. Graham, Emmanuel Scalais, Maya Topf
Publikováno v:
The Journal of Biological Chemistry, 287(34), 28975-28985. AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
Hereditary hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to hypertonia and apnea episodes. Missense, nonsense, frameshift, splice site mutations, and large deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d0e4a3ba1974226fee491957e9ea7d1
https://research.rug.nl/en/publications/d4e64b4e-8d8c-451d-9f2a-858103c78a15
https://research.rug.nl/en/publications/d4e64b4e-8d8c-451d-9f2a-858103c78a15
Publikováno v:
Frontiers in Molecular Neuroscience
Frontiers in Molecular Neuroscience, Vol 2 (2010)
Frontiers in Molecular Neuroscience, Vol 2 (2010)
Glycine is a major inhibitory neurotransmitter in the spinal cord and brainstem. Recently, in vivo analysis of glycinergic synaptic transmission has been pursued in zebrafish using molecular genetics. An ENU mutagenesis screen identified two behavior
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40618f7bfaf4016becaabfaea7fa3517
https://doi.org/10.3389/neuro.02.026.2009
https://doi.org/10.3389/neuro.02.026.2009
Autor:
Stéphane Supplisson, Robert J. Harvey, Mark I. Rees, Eloisa Carta, Seo-Kyung Chung, Kirsten Harvey, Brian Pearce
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 1 (2008)
Frontiers in Molecular Neuroscience
Frontiers in Molecular Neuroscience
Defects in mammalian glycinergic neurotransmission result in a complex motor disorder characterized by neonatal hypertonia and an exaggerated startle refl ex, known as hyperekplexia (OMIM 149400). This affects newborn children and is characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e297e90bddfa8830170503faacde3370
https://doi.org/10.3389/neuro.02.001.2008
https://doi.org/10.3389/neuro.02.001.2008
Autor:
Francianne G. Andrade, Suellen V. M. Feliciano, Ingrid Sardou-Cezar, Gisele D. Brisson, Filipe V. dos Santos-Bueno, Danielle T. Vianna, Luísa V. C. Marques, Eugênia Terra-Granado, Ilana Zalcberg, Marceli de O. Santos, Juliana T. Costa, Elda P. Noronha, Luiz C. S. Thuler, Joseph L. Wiemels, Maria S. Pombo-de-Oliveira, The Brazilian Collaborative Study Group of Acute Leukemia, Sarkis Renata Alves, Pereira Renata de Souza Barros, Rosania Maria Basegio, Patrícia Carneiro de Brito, José Carlos Córdoba, Imaruí Costa, Eloisa Cartaxo Eloy Fialho, Teresa Cristina Cardoso Fonseca, Isis Maria Quezado Magalhães, Glaceanne Torres da Luz Mamede, Eda Manzo, Rebeca Ferreira Marques, Gustavo Ribeiro Neves, Andrea Gadelha Nobrega, Claudia Teresa Oliveira, Renato de Paula Guedes Oliveira, Sidnei Epelman, Ana Maria Marinho da Silva, Silva Luciana Nunes, Marcelo dos Santos Souza, Regiana Quinto de Souza, Adriano Nori Rodrigues Taniguchi, Luciana Garcia Trujillo, Alayde Vieira Wanderley
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Previous studies have suggested a variation in the incidence of acute promyelocytic leukemia (APL) among the geographic regions with relatively higher percentages in the Latin American population. We aimed to explore the population burden of pediatri
Externí odkaz:
https://doaj.org/article/4bb0bdb9061649ea8f5899e2614c7041