Generation and characterization of FMR1 knockout zebrafish.

Autor: Marjo J den Broeder, Herma van der Linde, Judith R Brouwer, Ben A Oostra, Rob Willemsen, René F Ketting

Publikováno v: PLoS ONE, Vol 4, Iss 11, p e7910 (2009)

Fragile X syndrome (FXS) is one of the most common known causes of inherited mental retardation. The gene mutated in FXS is named FMR1, and is well conserved from human to Drosophila. In order to generate a genetic tool to study FMR1 function during

Externí odkaz: https://doaj.org/article/6815080d89ce4b748a6126ecb66c5afb

Practical guidance on heart failure diagnosis and management in primary care: recent EPCCS recommendations

Autor: Frans H. Rutten, FD Richard Hobbs, Clare J Taylor, Judith R Brouwer

Publikováno v: British Journal of General Practice, 67(660), 326. Royal College of General Practitioners

Heart failure (HF) is a common and costly clinical syndrome, associated with significant morbidity and reduced life expectancy, affecting around 1–2% of adults in developed countries.1 Timely diagnosis is important to optimise evidence-based treatm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca6ee3377357c84a7b2d2c71f905ba49
https://doi.org/10.3399/bjgp17x691553

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)

Autor: Rob Willemsen, Charlotte D’Hulst, Natalie De Geest, Bassem A. Hassan, Judith R. Brouwer, Peter Paul De Deyn, R. Frank Kooy, Inge Heulens, Simon P. Reeve

Publikováno v: Brain research
Brain Research, 1253, 176-183. Elsevier

After our initial discovery of reduced expression of several subunits of the GABA(A) receptor in two different animal models for fragile X syndrome, a frequent form of inherited mental retardation, we analyzed further components of the GABAergic path

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ca0d435ea221915ea099d6547f4bac9
https://pure.eur.nl/en/publications/e3d850d6-34db-4550-8633-78d55af60cef

Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes

Autor: Simona D'Antoni, Cathy E. Bakker, Sebastiano A. Musumeci, Giuseppe Calabrese, Ben A. Oostra, Maria Vincenza Catania, David L. Nelson, Raffaele Ferri, Judith R. Brouwer, Maurizio Elia, Carmela M. Bonaccorso

Publikováno v: Experimental Neurology, 203(1), 233-240. Academic Press
Experimental neurology 203 (2007): 233–240. doi:10.1016/j.expneurol.2006.08.007
info:cnr-pdr/source/autori:Musumeci SA, Calabrese G, Bonaccorso CM, D'Antoni S, Brouwer JR, Bakker CE, Elia M, Ferri R, Nelson DL, Oostra BA, Catania MV./titolo:Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes./doi:10.1016%2Fj.expneurol.2006.08.007/rivista:Experimental neurology/anno:2007/pagina_da:233/pagina_a:240/intervallo_pagine:233–240/volume:203

The Fmr1 knockout (KO) mouse is characterized by an increased audiogenic seizure (AGS) susceptibility and is considered a good animal model for epilepsy and seizures in the human fragile-X (FRAX) syndrome. Here, we tested the hypothesis that the rein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2db790dee4b2fe99a322aa4f2e9eee5e
https://doi.org/10.1016/j.expneurol.2006.08.007

Cell recovery from DM1 transgenic mouse tissue to study (CTG) n instability and DM1 pathogenesis

Autor: Judith R, Brouwer, Laurent, Foiry, Geneviève, Gourdon

Publikováno v: Methods in molecular biology (Clifton, N.J.). 1010

Myotonic dystrophy type 1 results from an unstable expanded CTG repeat ((CTG) n ) in the 3' UTR of the DMPK gene. Transgenic mouse models have been developed to reproduce the (CTG) n instability seen in DM1 patients. These transgenic mice provide an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::88e600ca37aa20d4ca6fb223547636ae
https://pubmed.ncbi.nlm.nih.gov/23754230