R
Rune R. Frants
Researcher at Leiden University
Publications - 286
Citations - 25707
Rune R. Frants is an academic researcher from Leiden University. The author has contributed to research in topics: Familial hemiplegic migraine & Facioscapulohumeral muscular dystrophy. The author has an hindex of 77, co-authored 286 publications receiving 24691 citations. Previous affiliations of Rune R. Frants include University of Connecticut & Radboud University Nijmegen.
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Journal ArticleDOI
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
Roel A. Ophoff,Gisela M. Terwindt,Monique N. Vergouwe,Ronald van Eijk,Peter J. Oefner,Susan M.G. Hoffman,Jane Lamerdin,Harvey W. Mohrenweiser,Dennis E. Bulman,Maurizio Ferrari,Joost Haan,Dick Lindhout,Gert-Jan B. van Ommen,Marten H. Hofker,Michel D. Ferrari,Rune R. Frants +15 more
TL;DR: A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2.
Journal ArticleDOI
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Josée Dupuis,Josée Dupuis,Claudia Langenberg,Inga Prokopenko,Richa Saxena,Richa Saxena,Nicole Soranzo,Nicole Soranzo,Anne U. Jackson,Eleanor Wheeler,Nicole L. Glazer,Nabila Bouatia-Naji,Anna L. Gloyn,Cecilia M. Lindgren,Reedik Mägi,Andrew P. Morris,Joshua C. Randall,Toby Johnson,Toby Johnson,Paul Elliott,Paul Elliott,Denis Rybin,Gudmar Thorleifsson,Valgerdur Steinthorsdottir,Peter Henneman,Harald Grallert,Abbas Dehghan,Jouke JanHottenga,Christopher S. Franklin,Pau Navarro,Kijoung Song,Anuj Goel,John R. B. Perry,Josephine M. Egan,Taina K. Lajunen,Niels Grarup,Thomas Sparsø,Alex S. F. Doney,Benjamin F. Voight,Benjamin F. Voight,Heather M. Stringham,Man Li,Stavroula Kanoni,Peter Shrader,Christine Cavalcanti-Proença,Meena Kumari,Lu Qi,Nicholas J. Timpson,Christian Gieger,Carina Zabena,Ghislain Rocheleau,Erik Ingelsson,Erik Ingelsson,Ping An,Jeffrey R. O'Connell,Jian'an Luan,Amanda F. Elliott,Amanda F. Elliott,Steven A. McCarroll,Steven A. McCarroll,Felicity Payne,Rosa Maria Roccasecca,François Pattou,Praveen Sethupathy,Kristin Ardlie,Yavuz Ariyurek,Beverley Balkau,Philip J. Barter,John Beilby,Yoav Ben-Shlomo,Rafn Benediktsson,Amanda J. Bennett,Sven Bergmann,Sven Bergmann,Murielle Bochud,Eric Boerwinkle,Amélie Bonnefond,Lori L. Bonnycastle,Knut Borch-Johnsen,Knut Borch-Johnsen,Yvonne Böttcher,Eric J. Brunner,Suzannah Bumpstead,Guillaume Charpentier,Yii Der IdaChen,Peter S. Chines,Robert Clarke,Lachlan J. McOin,Mark E. Cooper,Marilyn C. Cornelis,Gabe Crawford,Laura Crisponi,Ian N. M. Day,Eco J. C. de Geus,Jérôme Delplanque,Christian Dina,Michael R. Erdos,A C Fedson,Antje Fischer-Rosinsky,Nita G. Forouhi,Caroline S. Fox,Caroline S. Fox,Rune R. Frants,Maria GraziaFranzosi,Pilar Galan,Mark O. Goodarzi,J. Graessler,Christopher J. Groves,Scott M. Grundy,Rhian Gwilliam,Ulf Gyllensten,Samy Hadjadj,Göran Hallmans,Naomi Hammond,Xijing Han,Anna LiisaHartikainen,Neelam Hassanali,Caroline Hayward,Simon Heath,Serge Hercberg,Christian Herder,Andrew A. Hicks,David R. Hillman,Aroon D. Hingorani,Albert Hofman,Jennie Hui,Joseph Hung,Joseph Hung,Bo Isomaa,Paul Johnson,Torben Jørgensen,Antti Jula,Marika Kaakinen,Jaakko Kaprio,Jaakko Kaprio,Y. AnteroKesaniemi,Mika Kivimäki,Beatrice Knight,Seppo Koskinen,Peter Kovacs,Kirsten Ohm Kyvik,G. Mark Lathrop,Debbie A Lawlor,Olivier Le Bacquer,Cécile Lecoeur,Yun Li,Valeriya Lyssenko,Robert W. Mahley,Massimo Mangino,Alisa K. Manning,María TeresaMartínez-Larrad,Jarred B. McAteer,Jarred B. McAteer,Laura J. McCulloch,Ruth McPherson,Christa Meisinger,David Melzer,David Meyre,Braxton D. Mitchell,Mario A. Morken,Sutapa Mukherjee,Silvia Naitza,Narisu Narisu,Matt Neville,Ben A. Oostra,Marco Orrù,Ruth E. Pakyz,Colin N. Apalmer,Giuseppe Paolisso,Cristian Pattaro,Daniel S. Pearson,John F. Peden,Nancy L. Pedersen,Markus Perola,Markus Perola,Andreas Pfeiffer,Irene Pichler,Ozren Polasek,Danielle Posthuma,Simon C. Potter,Anneli Pouta,Michael A. Province,Bruce M. Psaty,Bruce M. Psaty,Wolfgang Rathmann,Nigel W. Rayner,Kenneth Rice,Samuli Ripatti,Samuli Ripatti,Fernando Rivadeneira,Michael Roden,Olov Rolandsson,Annelli Sandbæk,Manjinder S. Sandhu,Serena Sanna,Avan Aihie Sayer,Paul Scheet,Laura J. Scott,Udo Seedorf,Stephen J. Sharp,Beverley M. Shields,Gunnar Sigursson,Eric J.G. Sijbrands,Angela Silveira,Laila Simpson,Andrew B. Singleton,Nicholas L. Smith,Nicholas L. Smith,Ulla Sovio,Amy J. Swift,Holly E. Syddall,Ann ChristineSyvänen,Toshiko Tanaka,Toshiko Tanaka,Barbara Thorand,Jean Tichet,Anke Tönjes,Tiinamaija Tuomi,André G. Uitterlinden,Ko Willems van Dijk,Mandy van Hoek,Dhiraj Varma,Sophie Visvikis-Siest,Veronique Vitart,Nicole Vogelzangs,Gerard Waeber,Peter Wagner,Peter Wagner,Andrew Walley,G. BragiWalters,Kim L. Ward,Hugh Watkins,Michael N. Weedon,Sarah H. Wild,Gonneke Willemsen,Jaqueline C. MWitteman,John W. GYarnell,Eleftheria Zeggini,Eleftheria Zeggini,Diana Zelenika,Björn Zethelius,Björn Zethelius,Guangju Zhai,Jing Hua Zhao,M. Carola Zillikens,Ingrid B. Borecki,Ruth J. F. Loos,Pierre Meneton,Patrik K. E. Magnusson,David M. Nathan,Gordon H. Williams,Andrew T. Hattersley,Kaisa Silander,Kaisa Silander,Veikko Salomaa,George Davey Smith,Stefan R. Bornstein,Peter Schwarz,Joachim Spranger,Fredrik Karpe,Alan R. Shuldiner,Cyrus Cooper,George Dedoussis,Manuel Serrano-Ríos,Andrew D. Morris,Lars Lind,Lyle J. Palmer,Lyle J. Palmer,Frank B. Hu,Paul W. Franks,Shah Ebrahim,Michael Marmot,W. H. Linda Kao,James S. Pankow,Mike Sampson,Johanna Kuusisto,Markku Laakso,Torben Hansen,Torben Hansen,Oluf Pedersen,Oluf Pedersen,Oluf Pedersen,Peter P. Pramstaller,H.-Erich Wichmann,Thomas Illig,Igor Rudan,Igor Rudan,Alan F. Wright,Michael Stumvoll,Harry Campbell,James F. Wilson,Richard N. Bergman,Thomas A. Buchanan,Francis S. Collins,Karen L. Mohlke,Jaakko Tuomilehto,Jaakko Tuomilehto,Timo T. Valle,David Altshuler,David Altshuler,Jerome I. Rotter,David S. Siscovick,Brenda W.J.H. Penninx,Dorret I. Boomsma,Panos Deloukas,Tim D. Spector,Tim D. Spector,Timothy M. Frayling,Luigi Ferrucci,Augustine Kong,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Kari Stefansson,Kari Stefansson,Cornelia M. van Duijn,Yurii S. Aulchenko,Antonio Cao,Angelo Scuteri,David Schlessinger,Manuela Uda,Aimo Ruokonen,Marjo Riitta-Järvelin,Marjo Riitta-Järvelin,Dawn M. Waterworth,Peter Vollenweider,Leena Peltonen,Vincent Mooser,Gonçalo R. Abecasis,Nicholas J. Wareham,Robert Sladek,Philippe Froguel,Philippe Froguel,Richard M. Watanabe,James B. Meigs,Leif Groop,Michael Boehnke,Mark I. McCarthy,Jose C. Florez,Jose C. Florez,Inês Barroso +339 more
TL;DR: It is demonstrated that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes.
Journal Article
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (vol 42, pg 105, 2010)
Josée Dupuis,Claudia Langenberg,Inga Prokopenko,Richa Saxena,Nicole Soranzo,Anne U. Jackson,Eleanor Wheeler,Nicole L. Glazer,Nabila Bouatia-Naji,Anna L. Gloyn,C M Lindgren,Reedik Mägi,Andrew P. Morris,Joshua C. Randall,Toby Johnson,Peter J. Elliott,D Rybin,Gudmar Thorleifsson,Steinthorsdottir,Peter Henneman,H Grallert,Abbas Dehghan,J-J Hottenga,Christopher S. Franklin,Pau Navarro,KJ Song,Anuj Goel,Jrb Perry,Josephine M. Egan,Taina K. Lajunen,Niels Grarup,Thomas Sparsø,Alex S. F. Doney,B F Voight,Heather M. Stringham,Man Li,Stavroula Kanoni,Peter Shrader,Christine Cavalcanti-Proença,Meena Kumari,Lu Qi,N J Timpson,Christian Gieger,Carina Zabena,Ghislain Rocheleau,Erik Ingelsson,Ping An,Jeffery R. O'Connell,Jian'an Luan,Amanda F. Elliott,Steve McCarroll,Felicity Payne,Rosa Maria Roccasecca,François Pattou,Praveen Sethupathy,Kristin G. Ardlie,Yavuz Ariyurek,B. Balkau,Philip J. Barter,John Beilby,Yoav Ben-Shlomo,Rafn Benediktsson,Amanda J. Bennett,Sven Bergmann,Murielle Bochud,Eric Boerwinkle,Amélie Bonnefond,Lori L. Bonnycastle,Knut Borch-Johnsen,Yvonne Böttcher,Eric J. Brunner,Suzannah Bumpstead,Guillaume Charpentier,Ydi Chen,Peter S. Chines,Robert Clarke,Ljm Coin,Mark E. Cooper,Marilyn C. Cornelis,Gabriel Crawford,Laura Crisponi,Inm Day,Ejc de Geus,Jérôme Delplanque,Christian Dina,Erdos,A C Fedson,Antje Fischer-Rosinsky,Nita G. Forouhi,Caroline S. Fox,Rune R. Frants,MariaGrazia Franzosi,Pilar Galan,Mark O. Goodarzi,J. Graessler,C J Groves,Scott M. Grundy,R. Gwilliam,Ulf Gyllensten,Samy Hadjadj,Göran Hallmans,Naomi Hammond,Xijing Han,A.-L. Hartikainen,N Hassanali,Caroline Hayward,Simon C. Heath,Serge Hercberg,Christian Herder,Andrew A. Hicks,Hillman,Aroon D. Hingorani,A. Hofman,Jennie Hui,Joseph Hung,Bo Isomaa,Prv Johnson,Torben Jørgensen,A. Jula,Marika Kaakinen,J Kaprio,Y A Kesaniemi,Mika Kivimäki,Beatrice Knight,Seppo Koskinen,Peter Kovacs,Kirsten Ohm Kyvik,G. M. Lathrop,Debbie A Lawlor,O Le Bacquer,C. Lecoeur,Yun Li,Lyssenko,Robert W. Mahley,Massimo Mangino,Alisa K. Manning,María Teresa Martínez-Larrad,Jarred B. McAteer,Laura J. McCulloch,Ruth McPherson,Christine Meisinger,David Melzer,David Meyre,Braxton D. Mitchell,M. A. Morken,Sutapa Mukherjee,Silvia Naitza,Narisu Narisu,Matt J. Neville,Ben A. Oostra,Marco Orrù,Ruth E. Pakyz,Cna Palmer,Giuseppe Paolisso,Cristian Pattaro,Daniel S. Pearson,J F Peden,Nancy L. Pedersen,M. Perola,Afh Pfeiffer,Irene Pichler,Ozren Polasek,Danielle Posthuma,Simon C. Potter,A Pouta,M. A. Province,Bruce M. Psaty,Wolfgang Rathmann,N W Rayner,Kenneth Rice,S. Ripatti,Fernando Rivadeneira,Michael Roden,Olov Rolandsson,A. Sandbaek,M. S. Sandhu,Serena Sanna,Avan Aihie Sayer,Paul Scheet,Laura J. Scott,Udo Seedorf,Stephen J. Sharp,B M Shields,G Sigurosson,Ejg Sijbrands,Angela Silveira,Laila Simpson,AB Singleton,Nicholas L. Smith,Ulla Sovio,Amy J. Swift,Holly E. Syddall,Ann-Christine Syvänen,Toshiko Tanaka,Barbara Thorand,Jean Tichet,A Tönjes,Tiinamaija Tuomi,A.G. Uitterlinden,K W van Dijk,M. van Hoek,Dhiraj Varma,Sophie Visvikis-Siest,Vitart,Nicole Vogelzangs,G. Waeber,P J Wagner,Andrew Walley,G B Walters,Kim L. Ward,Hugh Watkins,Michael N. Weedon,Sarah H. Wild,Gonneke Willemsen,Jcm Witteman,Jwg Yarnell,E Zeggini,Diana Zelenika,Björn Zethelius,Guangju Zhai,Jing Hua Zhao,M. C. Zillikens,Ingrid B. Borecki,Rjf Loos,Pierre Meneton,Pke Magnusson,David M. Nathan,Gordon H. Williams,Andrew T. Hattersley,Kaisa Silander,Salomaa,George Davey Smith,Bornstein,Peter Schwarz,Jochen Spranger,F Karpe,A. R. Shuldiner,Cyrus Cooper,George Dedoussis,Manuel Serrano-Ríos,Andrew D. Morris,Lars Lind,Lyle J. Palmer,Frank B. Hu,Paul W. Franks,S Ebrahim,Michael Marmot,Whl Kao,James S. Pankow,Mike Sampson,Johanna Kuusisto,Markku Laakso,T. Hansen,Oluf Pedersen,Peter P. Pramstaller,Heinz Erich Wichmann,Thomas Illig,Igor Rudan,Alan F. Wright,Michael Stumvoll,Harry Campbell,James F. Wilson,Anders Hamsten,Richard N. Bergman,Thomas A. Buchanan,F. S. Collins,Karen L. Mohlke,J. Tuomilehto,Valle Tt,David Altshuler,Jerome I. Rotter,David S. Siscovick,Bwjh Penninx,D.I. Boomsma,Panagiotis Deloukas,Tim D. Spector,Timothy M. Frayling,L Ferrucci,Augustine Kong,Unnur Thorsteinsdottir,Kari Stefansson,C M van Duijn,Y S Aulchenko,Anyuan Cao,Angelo Scuteri,David Schlessinger,Manuela Uda,Aimo Ruokonen,Jarvelin,Dawn M. Waterworth,Peter Vollenweider,Leena Peltonen,Mooser,Gonçalo R. Abecasis,Nicholas J. Wareham,Robert Sladek,Philippe Froguel,Richard M. Watanabe,James B. Meigs,Leif Groop,Michael Boehnke,Mark I. McCarthy,Jose C. Florez,Ines Barroso Magic Investigators +303 more
Journal ArticleDOI
Analysis of the p16 gene (CDKN2) as a candidate· for the chromosome 9p melanoma susceptibility locus
Alexander Kamb,Donna M Shattuck-Eidens,Rosalind A. Eeles,Rosalind A. Eeles,Qingyun Liu,Nelleke A. Gruis,Nelleke A. Gruis,Wei Ding,Charles E. Hussey,Thanh Tran,Yoshio Miki,Jane Weaver-Feldhaus,Melody McClure,Joanne F. Aitken,David E. Anderson,Wilma Bergman,Rune R. Frants,David E. Goldgar,Adèle C. Green,Robert MacLennan,Nicholas G. Martin,Laurence Meyer,Laurence Meyer,P. Youl,John J. Zone,Mark H. Skolnick,Mark H. Skolnick,Lisa A. Cannon-Albright +27 more
TL;DR: A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16INK4 (CDKN2) MTS1, suggesting that CDKN2 is a good candidate for MLM.
Journal ArticleDOI
A Cacna1a Knockin Migraine Mouse Model with Increased Susceptibility to Cortical Spreading Depression
Arn M. J. M. van den Maagdenberg,Daniela Pietrobon,Tommaso Pizzorusso,Simon Kaja,Ludo A. M. Broos,Tiziana Cesetti,Rob C. G. van de Ven,Angelita Tottene,Jos van der Kaa,Jaap J. Plomp,Rune R. Frants,Michel D. Ferrari +11 more
TL;DR: The data show that the increased susceptibility for CSD and aura in migraine may be due to cortical hyperexcitability, and the R192Q FHM-1 mouse is a promising animal model to study migraine mechanisms and treatments.