J
James F. Gusella
Researcher at Harvard University
Publications - 628
Citations - 78837
James F. Gusella is an academic researcher from Harvard University. The author has contributed to research in topics: Huntington's disease & Gene. The author has an hindex of 126, co-authored 614 publications receiving 74289 citations. Previous affiliations of James F. Gusella include Broad Institute & Massachusetts Institute of Technology.
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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.
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Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.
Ann M. Saunders,Warren J. Strittmatter,Donald E. Schmechel,P. St. George-Hyslop,Margaret A. Pericak-Vance,S. H. Joo,B.L. Rosi,James F. Gusella,D. R. Crapper-MacLachlan,Mark J. Alberts,Christine M. Hulette,Barbara J. Crain,Dmitry Goldgaber,A. D. Roses +13 more
TL;DR: Data support the involvement of ApoE ϵ4 in the pathogenesis of late-onset familial and sporadic AD and suggest it may operate as a susceptibility gene (risk factor) for the clinical expression of AD.
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The GPR54 gene as a regulator of puberty
Stephanie B. Seminara,Sophie Messager,Emmanouella E. Chatzidaki,Rosemary R. Thresher,James S. Acierno,Jenna K. Shagoury,Yousef Bo-Abbas,Wendy Kuohung,Kristine M. Schwinof,Alan G. Hendrick,Dirk Zahn,John Dixon,Ursula B. Kaiser,Susan A. Slaugenhaupt,James F. Gusella,Stephen O'Rahilly,Mark Carlton,William F. Crowley,Samuel Aparicio,William H. Colledge +19 more
TL;DR: Puberty is initiated when gonadotropin-releasing hormone begins to be secreted by the hypothalamus, and complementary genetic approaches in humans and mice identified genetic factors that determine the onset of puberty.
Journal ArticleDOI
A polymorphic DNA marker genetically linked to Huntington's disease
James F. Gusella,Nancy S. Wexler,P. Michael Conneally,S. L. Naylor,Mary Anne Anderson,Rudolph E. Tanzi,Paul C. Watkins,Kathleen Ottina,Margaret R. Wallace,Alan Y. Sakaguchi,Anne B. Young,Ira Shoulson,Ernesto Bonilla,Joseph B. Martin +13 more
TL;DR: The chromosomal localization of the Huntington's disease gene is the first step in using recombinant DNA technology to identify the primary genetic defect in this disorder.
Journal ArticleDOI
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus
Rudolph E. Tanzi,James F. Gusella,Paul C. Watkins,G. A. P. Bruns,P. St. George-Hyslop,M L Van Keuren,D. Patterson,S. Pagan,David M. Kurnit,Rachael L. Neve +9 more
TL;DR: Overexpression of the gene in brain tissue from fetuses with Down syndrome (trisomy 21) can be explained by dosage since the locus encoding the beta protein maps to chromosome 21.