A cosegregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorderHow to Cite this Article: van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, de Jonge MV, Verbeek NE, van t Slot R, van Es MA, Staal FJ, Freitag CM, BuizerVoskamp JE, Nelen MR, van den Berg LH, van Amstel HKP, van Engeland H, Burbach JPH. 2010. A Cosegregating Microduplication of Chromosome 15q11.2 Pinpoints Two Risk Genes for Autism Spectrum Disorder. Am J Med Genet Part B 153B: 960–966.

Autor: van der Zwaag, Bert, Staal, Wouter G., Hochstenbach, Ron, Poot, Martin, Spierenburg, Henk A., de Jonge, Maretha V., Verbeek, Nienke E., van t Slot, Ruben, van Es, Michael A., Staal, Frank J., Freitag, Christine M., BuizerVoskamp, Jacobine E., Nelen, Marcel R., van den Berg, Leonard H., van Amstel, Hans K. Ploos, van Engeland, Herman, Burbach, J. Peter H.

Publikováno v: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics; June 2010, Vol. 153 Issue: 4 p960-966, 7p

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.

Autor: Wout J Weuring, Sakshi Singh, Linda Volkers, Martin B Rook, Ruben H van 't Slot, Marjolein Bosma, Marco Inserra, Irina Vetter, Nanda M Verhoeven-Duif, Kees P J Braun, Mirko Rivara, Bobby P C Koeleman

Publikováno v: PLoS ONE, Vol 15, Iss 3, p e0219106 (2020)

Dravet syndrome is caused by dominant loss-of-function mutations in SCN1A which cause reduced activity of Nav1.1 leading to lack of neuronal inhibition. On the other hand, gain-of-function mutations in SCN8A can lead to a severe epileptic encephalopa

Externí odkaz: https://doaj.org/article/6bee8c3f2c6649e9a69da93d49666e56

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population.

Autor: Carolien G de Kovel, Flip Mulder, Jessica van Setten, Ruben van 't Slot, Abdullah Al-Rubaish, Abdullah M Alshehri, Khalid Al Faraidy, Abdullah Al-Ali, Mohammed Al-Madan, Issa Al Aqaili, Emmanuel Larbi, Rudaynah Al-Ali, Alhusain Alzahrani, Folkert W Asselbergs, Bobby P C Koeleman, Amein Al-Ali

Publikováno v: PLoS ONE, Vol 11, Iss 2, p e0146502 (2016)

Coronary Artery Disease (CAD) remains the leading cause of mortality worldwide. Mortality rates associated with CAD have shown an exceptional increase particularly in fast developing economies like the Kingdom of Saudi Arabia (KSA). Over the past twe

Externí odkaz: https://doaj.org/article/f122dbf0511048a8b0ab407fdb727226

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy.

Autor: Olga Gorlova, Jose-Ezequiel Martin, Blanca Rueda, Bobby P. C. Koeleman, Jun Ying, Maria Teruel, Lina-Marcela Diaz-Gallo, Jasper C. Broen, Madelon C. Vonk, Carmen P. Simeon, Behrooz Z. Alizadeh, Marieke J. H. Coenen, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Piet L. C. M. van Riel, Marie Vanthuyne, Ruben van 't Slot, Annet Italiaander, Roel A. Ophoff, Nicolas Hunzelmann, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A. González-Gay, Francisco J. García-Hernández, María F. González-Escribano, Paolo Airo, Jacob van Laar, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul G. Shiels, Rene Westhovens, Alexander Kreuter, Elfride de Baere, Torsten Witte, Leonid Padyukov, Annika Nordin, Raffaella Scorza, Claudio Lunardi, Benedicte A. Lie, Anna-Maria Hoffmann-Vold, Øyvind Palm, Paloma García de la Peña, Patricia Carreira, John Varga, Monique Hinchcliff, Annette T. Lee, Pravitt Gourh, Christopher I. Amos, Frederick M. Wigley, Laura K. Hummers, J. Lee Nelson, Gabriella Riemekasten, Ariane Herrick, Lorenzo Beretta, Carmen Fonseca, Christopher P. Denton, Peter K. Gregersen, Sandeep Agarwal, Shervin Assassi, Filemon K. Tan, Frank C. Arnett, Timothy R. D. J. Radstake, Maureen D. Mayes, Javier Martin

Publikováno v: PLoS Genetics, Vol 7, Iss 8 (2011)

Externí odkaz: https://doaj.org/article/4d5606e9cb53448b8c0723d7f6339f4c

Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages.

Autor: Sebastiaan M Bol, Perry D Moerland, Sophie Limou, Yvonne van Remmerden, Cédric Coulonges, Daniëlle van Manen, Joshua T Herbeck, Jacques Fellay, Margit Sieberer, Jantine G Sietzema, Ruben van 't Slot, Jeremy Martinson, Jean-François Zagury, Hanneke Schuitemaker, Angélique B van 't Wout

Publikováno v: PLoS ONE, Vol 6, Iss 2, p e17190 (2011)

HIV-1 infected macrophages play an important role in rendering resting T cells permissive for infection, in spreading HIV-1 to T cells, and in the pathogenesis of AIDS dementia. During highly active anti-retroviral treatment (HAART), macrophages keep

Externí odkaz: https://doaj.org/article/ec933f9d95a943fd86decd23dded18ac