Zobrazeno 1 - 10
of 398
pro vyhledávání: '"Rune R Frants"'
Autor:
Yvonne D Krom, Peter E Thijssen, Janet M Young, Bianca den Hamer, Judit Balog, Zizhen Yao, Lisa Maves, Lauren Snider, Paul Knopp, Peter S Zammit, Tonnie Rijkers, Baziel G M van Engelen, George W Padberg, Rune R Frants, Rabi Tawil, Stephen J Tapscott, Silvère M van der Maarel
Publikováno v:
PLoS Genetics, Vol 9, Iss 4, p e1003415 (2013)
Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each
Externí odkaz:
https://doaj.org/article/83a1bd1783864485aea4de89cfb665bb
Autor:
Antoine de Morrée, Paul J Hensbergen, Herman H H B M van Haagen, Irina Dragan, André M Deelder, Peter A C 't Hoen, Rune R Frants, Silvère M van der Maarel
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e13854 (2010)
Dysferlin is critical for repair of muscle membranes after damage. Mutations in dysferlin lead to a progressive muscular dystrophy. Recent studies suggest additional roles for dysferlin. We set out to study dysferlin's protein-protein interactions to
Externí odkaz:
https://doaj.org/article/1dd15b3fcdfc43de9e54fb4e35ef5214
Autor:
Antoine de Morrée, David Lutje Hulsik, Antonietta Impagliazzo, Herman H H B M van Haagen, Paula de Galan, Alexandra van Remoortere, Peter A C 't Hoen, Gertjan B van Ommen, Rune R Frants, Silvère M van der Maarel
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e11940 (2010)
Calpain 3 (CAPN3) is a cysteine protease that when mutated causes Limb Girdle Muscular Dystrophy 2A. It is thereby the only described Calpain family member that genetically causes a disease. Due to its inherent instability little is known of its subs
Externí odkaz:
https://doaj.org/article/1c698ab563c4460f95f66cf1994b8e3f
Autor:
Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C Gregson, Sara T Winokur, April Pyle, Keith D Robertson, John A Schmiesing, Virginia E Kimonis, Judit Balog, Rune R Frants, Alexander R Ball, Leslie F Lock, Peter J Donovan, Silvère M van der Maarel, Kyoko Yokomori
Publikováno v:
PLoS Genetics, Vol 5, Iss 7, p e1000559 (2009)
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4
Externí odkaz:
https://doaj.org/article/79fbf42c8f214f03adcf8266e53ad4ab
Autor:
Arn M. J. M. van den Maagdenberg, Boukje de Vries, Stephany C. Koelewijn, Boyan Todorov, Peter A C 't Hoen, Else Eising, Rune R. Frants, Ludo A. M. Broos, Judith M. Boer, Michel D. Ferrari
Publikováno v:
Cephalalgia
Cephalalgia, 34(3), 174-182
Cephalalgia, 34(3), 174-182
Background Various CACNA1A missense mutations cause familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of migraine with aura. FHM1 mutation R192Q is associated with pure hemiplegic migraine, whereas the S218L mutation causes hemiple
Autor:
A. Cecile J.W. Janssens, Arn M. J. M. van den Maagdenberg, Cornelia M. van Duijn, Ben A. Oostra, Gisela M. Terwindt, Michel D. Ferrari, Claudia M Weller, Anine H. Stam, Yurii S. Aulchenko, Rune R. Frants
Publikováno v:
Cephalalgia, 33(4), 228-235
Cephalalgia, 33(4), 228-235. SAGE Publications Ltd
Cephalalgia, 33(4), 228-235. SAGE Publications Ltd
Aim Migraine, in particular with aura, has been associated with an increased risk for ischemic stroke and coronary heart disease. The underlying mechanism is unknown. In a cross-sectional case control study we investigated whether an enhanced risk of
Autor:
Daniel P. Joseph, Paulus T. V. M. de Jong, Todd A. Hardy, John P. Atkinson, Rula A. Hajj-Ali, Martin Dichgans, Parul H. Kothari, Aisha Shaikh, Elizabeth M. Brunt, M. Gilbert Grand, Suzanne Hodgkinson, Arn M. J. M. van den Maagdenberg, Michael Hayes, Grant R. Kolar, Marc D. de Smet, Andreas Gschwendter, Ingeborg M. Bajema, Gisela M. Terwindt, Rune R. Frants, Greet Dijkman, Mark C. Kruit, Anine H. Stam, Didi De Wolff-Rouendaal, Mark A. van Buchem, Joanna C. Jen, Michel D. Ferrari, Sjoerd G. van Duinen, Robert W. Baloh, Katya E. Kotschet, Joost Haan, Robert E. Schmidt, David R. Fintak, Nadine Pelzer, Peter A. Kempster, Helen Liapis, Marion L.C. Maat-Schieman, Jo Anne Lacey
Publikováno v:
Brain: a journal of neurology, 139, 2909-2922. Oxford University Press
Brain, 139, 2909-2922
Brain
Brain, 139(11), 2909-2922. Oxford University Press
Brain, 139, 2909-2922
Brain
Brain, 139(11), 2909-2922. Oxford University Press
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad6047e335fee2baa8f8a376acd1a67
https://pure.knaw.nl/portal/en/publications/fddf1e0a-2601-43a4-bc48-5f76f66e7608
https://pure.knaw.nl/portal/en/publications/fddf1e0a-2601-43a4-bc48-5f76f66e7608
Autor:
Tobias Freilinger, John-Anker Zwart, Aarno Palotie, Boukje de Vries, Arn M. J. M. van den Maagdenberg, Olli T. Raitakari, Albert Hofman, Michel D. Ferrari, Thomas Meitinger, Mari A. Kaunisto, Mark A. Louter, Bertram Müller-Myhsok, Jean Schoenen, U. Todt, Axel Heinze, Markus Färkkilä, Dale R. Nyholt, Patricia Pozo-Rosich, Jaakko Kaprio, Hartmut Göbel, Alfons Macaya, Bru Cormand, Erich Wichmann, Mikko Kallela, Rainer Malik, Gisela M. Terwindt, Martin Dichgans, Maija Wessman, Cornelia M. van Duijn, Ville Artto, Jèssica Fernández-Morales, Rune R. Frants, Verneri Anttila, Marta Vila-Pueyo, André G. Uitterlinden, Terho Lehtimäki, Christian Kubisch, Erling Tronvik, Cèlia Sintas, Eija Hämäläinen, Bendik S. Winsvold, Willebrordus P. J. van Oosterhout, Fernando Rivadeneira
Publikováno v:
Nature Genetics, 44(7), 777-U205. Nature Publishing Group
Nature Genetics; Vol 44
Nature Genetics, 44(7), 777-U205
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Genetics; Vol 44
Nature Genetics, 44(7), 777-U205
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Migraine without aura is the most common form of migraine, characterized by recurrent disabling headache and associated autonomic symptoms. To identify common genetic variants associated with this migraine type, we analyzed genome-wide association da
Autor:
Nuno Pires, Arnoud van der Laarse, Huibert A. P. Pols, André G. Uitterlinden, Moniek P.M. de Maat, Rune R. Frants, PS Monraats, Aeilko H. Zwinderman, Paul H.A. Quax, Douwe Pons, Johannes Waltenberger, Pieter A. Doevendans, J. Wouter Jukema, Robbert DeWinter, Yue Fang, René A. Tio, Ernst E. van der Wall
Publikováno v:
Expert opinion on therapeutic targets, 14(3), 243-251. Taylor and Francis Ltd.
Expert Opinion on Therapeutic Targets, 14(3), 243-251. Informa Healthcare
Expert Opinion on Therapeutic Targets, 14(3), 243-251. Taylor & Francis Ltd
Expert Opinion on Therapeutic Targets, 14(3), 243-251
EXPERT OPINION ON THERAPEUTIC TARGETS, 14(3), 243-251. TAYLOR & FRANCIS LTD
Expert Opinion on Therapeutic Targets, 14(3), 243-251. Informa Healthcare
Expert Opinion on Therapeutic Targets, 14(3), 243-251. Taylor & Francis Ltd
Expert Opinion on Therapeutic Targets, 14(3), 243-251
EXPERT OPINION ON THERAPEUTIC TARGETS, 14(3), 243-251. TAYLOR & FRANCIS LTD
Objective: Restenosis is the main drawback of percutaneous coronary intervention (PCI). Inherited factors may explain part of the risk of restenosis. Recently, the vitamin D receptor (VDR) has been shown to be involved not only in bone metabolism but
Autor:
Marijke Frölich, Irina V. Zorkoltseva, Cornelia M. van Duijn, Ben A. Oostra, Ko Willems van Dijk, Yurii S. Aulchenko, Peter Henneman, M. Carola Zillikens, Rune R. Frants
Publikováno v:
Diabetes Care, 33(4), 908-913
Diabetes Care, 33(4), 908-913. American Diabetes Association Inc.
Diabetes Care
Diabetes Care, 33(4), 908-913. American Diabetes Association Inc.
Diabetes Care
OBJECTIVE Adiponectin, a hormone secreted by adipose tissue, is of particular interest in metabolic syndrome, because it is inversely correlated with obesity and insulin sensitivity. However, it is not known to what extent the genetics of plasma adip