Z
Zdenek Sedlacek
Researcher at Charles University in Prague
Publications - 75
Citations - 16450
Zdenek Sedlacek is an academic researcher from Charles University in Prague. The author has contributed to research in topics: Gene & Germline mutation. The author has an hindex of 27, co-authored 73 publications receiving 15743 citations. Previous affiliations of Zdenek Sedlacek include University of California, Irvine & Lincoln's Inn.
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Journal ArticleDOI
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Marcy E. MacDonald,Christine Ambrose,Mabel P. Duyao,Richard H. Myers,Carol Lin,Lakshmi Srinidhi,Glenn Barnes,Sherryl A.M. Taylor,Marianne James,Nicolet Groot,Heather MacFarlane,Barbara Jenkins,Mary Anne Anderson,Nancy S. Wexler,James F. Gusella,Gillian P. Bates,Sarah Baxendale,Holger Hummerich,Susan F. Kirby,Mike North,S. Youngman,Richard Mott,Günther Zehetner,Zdenek Sedlacek,Annemarie Poustka,Anna-Maria Frischauf,Hans Lehrach,Alan Buckler,Deanna M. Church,Lynn Doucette-Stamm,Michael Conlon O'Donovan,Laura Riba-Ramirez,Manish A. Shah,Vincent P. Stanton,Scott A. Strobel,Karen M. Draths,Jennifer L. Wales,Peter B. Dervan,David E. Housman,Michael R. Altherr,Rita Shiang,Leslie M. Thompson,Thomas J. Fielder,John J. Wasmuth,Danilo A. Tagle,John Valdes,Lawrence W. Elmer,Marc W. Allard,Lucio H. Castilla,Manju Swaroop,Kris Blanchard,Francis S. Collins,Russell G. Snell,Tracey Holloway,Kathleen Gillespie,Nicole A. Datson,Duncan Shaw,Peter S. Harper +57 more
TL;DR: In this article, the authors used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect, which is expanded and unstable on HD chromosomes.
Journal Article
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
Manish A. Shah,Nicole A. Datson,Lakshmi Srinidhi,Vincent P. Stanton,Marcy E. MacDonald,Marc W. Allard,S. Youngman,Anna-Maria Frischauf,Richard Mott,KM Draths,Günther Zehetner,C. O’Donovan,Thomas J. Fielder,Bruce G. Jenkins,Manju Swaroop,Sherryl A.M. Taylor,Lynn Doucette-Stamm,Heather MacFarlane,Scott A. Strobel,H. E. McFarlane,Alan Buckler,Nicolet Groot,Holger Hummerich,Deanna M. Church,M. A. Anderson,Marianne James,Glenn Barnes,M. Christine,Francis S. Collins,Mabel P. Duyao,Peter B. Dervan,Gillian P. Bates,T Holloway,Peter S. Harper,TW Mcdonald,M North,K Blanchard,John J. Wasmuth,D. Shaw,Hans Lehrach,Danilo A. Tagle,Annemarie Poustka,David E. Housman,T. Huntington,Zdenek Sedlacek,Laura Riba,Susan F. Kirby,Carol Lin,Richard H. Myers,Leslie M. Thompson,Russell G. Snell,Michael Conlon O'Donovan,K Gillespie,Rita Shiang,Nancy S. Wexler,Christine Ambrose,J. F. Gusella,Sarah Baxendale,N. Groat,John Valdes +59 more
TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
Journal ArticleDOI
A Complex Pattern of Evolutionary Conservation and Alternative Polyadenylation Within the Long 3′-Untranslated Region of the Methyl-CpG-Binding Protein 2 Gene (MeCP2) Suggests a Regulatory Role in Gene Expression
TL;DR: Support for a domain-like conservation pattern of the long 3"-UTR of the MeCP2 gene was obtained by examining conservation in the chimpanzee, orangutan, macaque, hamster, rat and kangaroo.
Journal ArticleDOI
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Madeleine R. Geisheker,Gabriel Heymann,Tianyun Wang,Bradley P. Coe,Tychele N. Turner,Holly A.F. Stessman,Kendra Hoekzema,Malin Kvarnung,Marie Shaw,Kathryn Friend,Kathryn Friend,Jan Liebelt,Christopher Barnett,Christopher Barnett,Elizabeth Thompson,Elizabeth Thompson,Eric Haan,Eric Haan,Hui Guo,Britt-Marie Anderlid,Ann Nordgren,Anna Lindstrand,Geert Vandeweyer,Antonino Alberti,Emanuela Avola,Mirella Vinci,Stefania Giusto,Tiziano Pramparo,Karen Pierce,Srinivasa Nalabolu,Jacob J. Michaelson,Zdenek Sedlacek,Gijs W. E. Santen,Hilde Peeters,Hakon Hakonarson,Eric Courchesne,Corrado Romano,R. Frank Kooy,Raphael Bernier,Magnus Nordenskjöld,Jozef Gecz,Kun Xia,Larry S. Zweifel,Evan E. Eichler,Evan E. Eichler +44 more
TL;DR: Overall, significant clustering of de novo mutations in 200 genes is found, highlighting specific functional domains and synaptic candidate genes important in NDD pathology.
Journal ArticleDOI
Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.
Zuzana Musova,Radim Mazanec,Anna Krepelova,Edvard Ehler,Jiri Vales,Radka Jaklova,Tomas Prochazka,Petr Koukal,Tatana Marikova,Josef Kraus,Marketa Havlovicova,Zdenek Sedlacek +11 more
TL;DR: The identification of multiple patients with different patterns of CCG and CTC interruptions in the DMPK CTG repeat tract that display unique intergenerational instability has important consequences for molecular genetic testing where they can lead to false negative conclusions.