M
Michele D'Urso
Researcher at International Institute of Minnesota
Publications - 115
Citations - 7830
Michele D'Urso is an academic researcher from International Institute of Minnesota. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 43, co-authored 115 publications receiving 7545 citations. Previous affiliations of Michele D'Urso include Baylor College of Medicine & Washington University in St. Louis.
Papers
More filters
Journal ArticleDOI
The DNA sequence of the human X chromosome
Mark T. Ross,Darren Grafham,Alison J. Coffey,Steven E. Scherer,Kirsten McLay,Donna M. Muzny,Matthias Platzer,Gareth R. Howell,Christine Burrows,Christine P. Bird,Adam Frankish,Frances L Lovell,Kevin L. Howe,Jennifer L. Ashurst,Robert S. Fulton,Ralf Sudbrak,Ralf Sudbrak,Gaiping Wen,Matthew C. Jones,Matthew E. Hurles,T. Daniel Andrews,Carol Scott,Stephen M. J. Searle,Juliane Ramser,Adam Whittaker,Rebecca Deadman,Nigel P. Carter,Sarah E. Hunt,Rui Chen,Andrew Cree,Preethi H. Gunaratne,Paul Havlak,Anne Hodgson,Michael L. Metzker,Stephen Richards,Graham Scott,David Steffen,Erica Sodergren,David A. Wheeler,Kim C. Worley,R Ainscough,K D Ambrose,M. Ali Ansari-Lari,Swaroop Aradhya,R I S Ashwell,A K Babbage,Claire L Bagguley,Andrea Ballabio,Ruby Banerjee,Gary E Barker,K F Barlow,Ian P. Barrett,Karen N Bates,David Beare,Helen Beasley,Oliver Beasley,Alfred Beck,Graeme Bethel,Karin Blechschmidt,Nicola Brady,Sarah Bray-Allen,Anne Bridgeman,Andrew Brown,Mary J. Brown,David Bonnin,Elspeth A. Bruford,Christian J. Buhay,Paula E. Burch,D C Burford,Joanne Burgess,Wayne Burrill,John Burton,Jackie Bye,C Carder,Laura Carrel,Joseph Chako,Joanne C Chapman,Dean Chavez,Ellson Y. Chen,Guan Chen,Yuan Chen,Zhijian J. Chen,Craig Chinault,Alfredo Ciccodicola,Sue Y Clark,Graham Clarke,Chris Clee,S. M. Clegg,Kerstin P. Clerc-Blankenburg,Karen Clifford,Vicky Cobley,Charlotte G. Cole,Jen S. Conquer,N Corby,Richard E Connor,Robert G. David,Joy Davies,Clay Davis,John M. Davis,Oliver Delgado,Denise R. DeShazo,Pawandeep Dhami,Yan Ding,Huyen Dinh,Steve Dodsworth,Heather R. Draper,Shannon Dugan-Rocha,Andrew Dunham,Matthew Dunn,K. James Durbin,Ireena Dutta,Tamsin Eades,Matthew Ellwood,Alexandra Emery-Cohen,Helen Errington,Kathryn L. Evans,Louisa Faulkner,Fiona Francis,John Frankland,Audrey Fraser,Petra Galgoczy,James G. R. Gilbert,Rachel Gill,Gernot Glöckner,Simon G. Gregory,Susan M. Gribble,C Griffiths,Russell J. Grocock,Yanghong Gu,Rhian Gwilliam,Cerissa Hamilton,E. Hart,Alicia Hawes,Paul Heath,Katja Heitmann,Steffen Hennig,Judith Hernandez,Bernd Hinzmann,Sarah Ho,Michael Hoffs,Phillip J Howden,Elizabeth J. Huckle,Jennifer Hume,Paul Hunt,Adrienne Hunt,Judith Isherwood,Leni S. Jacob,David W. Johnson,Sally Jones,Pieter J. de Jong,Shirin S. Joseph,Stephen Keenan,Susan H. Kelly,Joanne K Kershaw,Ziad Khan,Petra Kioschis,Sven Klages,Andrew J Knights,Anna Kosiura,Christie Kovar-Smith,Gavin K. Laird,Cordelia Langford,S Lawlor,Margaret A. Leversha,Lora Lewis,Wen Liu,Christine Lloyd,D. M. Lloyd,Hermela Loulseged,Jane E. Loveland,J Lovell,Ryan J. Lozado,Jing Lu,Rachael Lyne,Jie Ma,Manjula Maheshwari,Lucy Matthews,Jennifer McDowall,Stuart McLaren,Amanda McMurray,Patrick Meidl,Thomas Meitinger,Sarah Milne,George Miner,Shailesh L Mistry,Margaret Morgan,Sidney Morris,Ines Müller,James C. Mullikin,Ngoc Nguyen,Gabriele Nordsiek,Gerald Nyakatura,Christopher N O'Dell,Geoffery Okwuonu,Sophie Palmer,Richard Pandian,David Parker,Julia E. Parrish,Shiran Pasternak,Dina Patel,Alex V Pearce,D. Pearson,Sarah Pelan,Lesette Perez,K M Porter,Yvonne Ramsey,Kathrin Reichwald,Susan Rhodes,Kerry A Ridler,David Schlessinger,Mary G. Schueler,Harminder Sehra,Charles Shaw-Smith,Hua Shen,E Sheridan,Ratna Shownkeen,C. D. Skuce,Michelle Smith,Elizabeth C. Sotheran,Helen E. Steingruber,Charles A. Steward,Roy Storey,R Mark Swann,David Swarbreck,Paul E. Tabor,Stefan Taudien,Tineace Taylor,Brian Teague,Karen Thomas,Andrea Thorpe,Kirsten M. Timms,Alan Tracey,Steve Trevanion,A Tromans,Michele D'Urso,Daniel Verduzco,Donna Villasana,Lenee Waldron,Melanie M. Wall,Qiaoyan Wang,James T. Warren,Georgina Warry,Xuehong Wei,Anthony P. West,S. Whitehead,Mathew N Whiteley,Jane E. Wilkinson,David Willey,Gabrielle Williams,Leanne Williams,Angela Williamson,Helen Williamson,Laurens G. Wilming,Rebecca Woodmansey,Paul Wray,Jennifer Yen,Jingkun Zhang,Jianling Zhou,Huda Y. Zoghbi,Sara Zorilla,David Buck,Richard Reinhardt,Annemarie Poustka,André Rosenthal,Hans Lehrach,Alfons Meindl,Patrick Minx,LaDeana W. Hillier,Huntington F. Willard,Richard K. Wilson,Robert H. Waterston,Catherine M. Rice,M. Vaudin,Alan Coulson,David L. Nelson,George M. Weinstock,John Sulston,Richard Durbin,Tim Hubbard,Richard A. Gibbs,Stephan Beck,Jane Rogers,David R. Bentley +282 more
TL;DR: This analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome.
Journal ArticleDOI
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
A. Smahi,Gilles Courtois,Pierre Vabres,Shoji Yamaoka,S. Heuertz,Arnold Munnich,Alain Israël,Nina S. Heiss,Sabine M. Klauck,Petra Kioschis,Stefan Wiemann,Annemarie Poustka,Teresa Esposito,T. Bardaro,Fernando Gianfrancesco,Alfredo Ciccodicola,Michele D'Urso,Hayley Woffendin,T. Jakins,D. Donnai,H. Stewart,Susan Kenwrick,Swaroop Aradhya,Takanori Yamagata,Michael J. Levy,Richard A. Lewis,David L. Nelson +26 more
TL;DR: Most cases of familial incontinentia pigmenti are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations, which means that NF-κB activation is defective in IP cells.
Journal ArticleDOI
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Alfons Meindl,K. L. Dry,Kathrin Herrmann,Forbes D C Manson,Alfredo Ciccodicola,A. J. Edgar,Maria Raquel Santos Carvalho,Helene Achatz,Heide Hellebrand,Alan Lennon,Carmela Migliaccio,K. Porter,Eberhart Zrenner,Alan C. Bird,Marcelle Jay,Birgit Lorenz,B. Wittwer,Michele D'Urso,Thomas Meitinger,A F Wright +19 more
TL;DR: The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.
Journal ArticleDOI
Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia
Diego Ingrosso,Amelia Cimmino,Alessandra F. Perna,Lucia Masella,Natale G. De Santo,Maria Luigia De Bonis,Marcella Vacca,Maurizio D'Esposito,Michele D'Urso,Patrizia Galletti,Vincenzo Zappia +10 more
TL;DR: The results suggest that hyperhomocysteinaemia affects epigenetic control of gene expression, which can be reverted by folate treatment, and the hypothesis that the toxic action of homocysteine can be mediated by macromolecule hypomethylation is supported.
Journal ArticleDOI
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
Tom Vulliamy,Michele D'Urso,G. Battistuzzi,Mica Estrada,Nicholas S. Foulkes,Giuseppe Martini,Viola Calabrò,V. Poggi,R Giordano,M Town +9 more
TL;DR: Seven mutant G6PD alleles are cloned and sequenced and a single amino acid replacement was found (serine----phenylalanine) which must be responsible for the decreased stability and the reduced catalytic efficiency of this enzyme.