Search Results - (Author, Cooperation:J. F. Gusella)
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1Latest Papers from Table of Contents or Articles in PressS. Jacquemont ; A. Reymond ; F. Zufferey ; L. Harewood ; R. G. Walters ; Z. Kutalik ; D. Martinet ; Y. Shen ; A. Valsesia ; N. D. Beckmann ; G. Thorleifsson ; M. Belfiore ; S. Bouquillon ; D. Campion ; N. de Leeuw ; B. B. de Vries ; T. Esko ; B. A. Fernandez ; F. Fernandez-Aranda ; J. M. Fernandez-Real ; M. Gratacos ; A. Guilmatre ; J. Hoyer ; M. R. Jarvelin ; R. F. Kooy ; A. Kurg ; C. Le Caignec ; K. Mannik ; O. S. Platt ; D. Sanlaville ; M. M. Van Haelst ; S. Villatoro Gomez ; F. Walha ; B. L. Wu ; Y. Yu ; A. Aboura ; M. C. Addor ; Y. Alembik ; S. E. Antonarakis ; B. Arveiler ; M. Barth ; N. Bednarek ; F. Bena ; S. Bergmann ; M. Beri ; L. Bernardini ; B. Blaumeiser ; D. Bonneau ; A. Bottani ; O. Boute ; H. G. Brunner ; D. Cailley ; P. Callier ; J. Chiesa ; J. Chrast ; L. Coin ; C. Coutton ; J. M. Cuisset ; J. C. Cuvellier ; A. David ; B. de Freminville ; B. Delobel ; M. A. Delrue ; B. Demeer ; D. Descamps ; G. Didelot ; K. Dieterich ; V. Disciglio ; M. Doco-Fenzy ; S. Drunat ; B. Duban-Bedu ; C. Dubourg ; J. S. El-Sayed Moustafa ; P. Elliott ; B. H. Faas ; L. Faivre ; A. Faudet ; F. Fellmann ; A. Ferrarini ; R. Fisher ; E. Flori ; L. Forer ; D. Gaillard ; M. Gerard ; C. Gieger ; S. Gimelli ; G. Gimelli ; H. J. Grabe ; A. Guichet ; O. Guillin ; A. L. Hartikainen ; D. Heron ; L. Hippolyte ; M. Holder ; G. Homuth ; B. Isidor ; S. Jaillard ; Z. Jaros ; S. Jimenez-Murcia ; G. J. Helas ; P. Jonveaux ; S. Kaksonen ; B. Keren ; A. Kloss-Brandstatter ; N. V. Knoers ; D. A. Koolen ; P. M. Kroisel ; F. Kronenberg ; A. Labalme ; E. Landais ; E. Lapi ; V. Layet ; S. Legallic ; B. Leheup ; B. Leube ; S. Lewis ; J. Lucas ; K. D. MacDermot ; P. Magnusson ; C. Marshall ; M. Mathieu-Dramard ; M. I. McCarthy ; T. Meitinger ; M. A. Mencarelli ; G. Merla ; A. Moerman ; V. Mooser ; F. Morice-Picard ; M. Mucciolo ; M. Nauck ; N. C. Ndiaye ; A. Nordgren ; L. Pasquier ; F. Petit ; R. Pfundt ; G. Plessis ; E. Rajcan-Separovic ; G. P. Ramelli ; A. Rauch ; R. Ravazzolo ; A. Reis ; A. Renieri ; C. Richart ; J. S. Ried ; C. Rieubland ; W. Roberts ; K. M. Roetzer ; C. Rooryck ; M. Rossi ; E. Saemundsen ; V. Satre ; C. Schurmann ; E. Sigurdsson ; D. J. Stavropoulos ; H. Stefansson ; C. Tengstrom ; U. Thorsteinsdottir ; F. J. Tinahones ; R. Touraine ; L. Vallee ; E. van Binsbergen ; N. Van der Aa ; C. Vincent-Delorme ; S. Visvikis-Siest ; P. Vollenweider ; H. Volzke ; A. T. Vulto-van Silfhout ; G. Waeber ; C. Wallgren-Pettersson ; R. M. Witwicki ; S. Zwolinksi ; J. Andrieux ; X. Estivill ; J. F. Gusella ; O. Gustafsson ; A. Metspalu ; S. W. Scherer ; K. Stefansson ; A. I. Blakemore ; J. S. Beckmann ; P. Froguel
Nature Publishing Group (NPG)
Published 2011Staff ViewPublication Date: 2011-09-02Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adolescent ; Adult ; Aged ; Aging ; Body Height/genetics ; *Body Mass Index ; Case-Control Studies ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16/*genetics ; Cohort Studies ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Energy Metabolism/genetics ; Europe ; Female ; Gene Dosage/*genetics ; Gene Duplication/genetics ; Gene Expression Profiling ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Head/anatomy & histology ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Disorders/genetics ; Middle Aged ; Mutation/genetics ; North America ; Obesity/*genetics ; *Phenotype ; RNA, Messenger/analysis/genetics ; Sequence Deletion/genetics ; Thinness/*genetics ; Transcription, Genetic ; Young AdultPublished by: -
2Latest Papers from Table of Contents or Articles in PressC. Golzio ; J. Willer ; M. E. Talkowski ; E. C. Oh ; Y. Taniguchi ; S. Jacquemont ; A. Reymond ; M. Sun ; A. Sawa ; J. F. Gusella ; A. Kamiya ; J. S. Beckmann ; N. Katsanis
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-05-19Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Apoptosis/genetics ; Cell Proliferation ; Chromosomes, Human, Pair 16/*genetics ; DNA Copy Number Variations/*genetics ; Gene Dosage/*genetics ; Gene Duplication/genetics ; Head/*abnormalities/embryology ; Humans ; Mice ; Microcephaly/*genetics ; Nuclear Proteins/*genetics/metabolism ; Organ Size/genetics ; *Phenotype ; RNA, Messenger/genetics/metabolism ; Sequence Deletion/genetics ; Transcription, Genetic ; Up-Regulation ; Zebrafish/abnormalities/embryology/geneticsPublished by: -
3Articles: DFG German National LicensesMyers, R. H. ; MacDonald, M. E. ; Koroshetz, W. J. ; Duyao, M. P. ; Ambrose, C. M. ; Taylor, S. A. M. ; Barnes, G. ; Srinidhi, J. ; Lin, C. S. ; Whaley, W. L. ; Lazzarini, A. M. ; Schwarz, M. ; Wolff, G. ; Bird, E. D. ; Vonsattel, J.-P. G. ; Gusella, J. F.
[s.l.] : Nature Publishing Group
Published 1993Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] Huntington's disease (HD) chromosomes contain an expanded unstable (CAG)n repeat in chromosome 4p16.3. We have examined nine families with potential de novo expression of the disease. With one exception, all of the affected individuals had 42 or more repeat units, well above the normal range. In ...Type of Medium: Electronic ResourceURL: -
4Articles: DFG German National LicensesBates, G. P. ; Valdes, J. ; Hummerich, H. ; Baxendale, S. ; Le Paslier, D. L. ; Monaco, A. P. ; Tagle, D. ; MacDonald, M. E. ; Altherr, M. ; Ross, M. ; Brownstein, B. H. ; Bentley, D. ; Wasmuth, J. J. ; Gusella, J. F. ; Cohen, D. ; Collins, F. ; Lehrach, H.
[s.l.] : Nature Publishing Group
Published 1992Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] The Huntington's disease (HD) gene has been localized by recombination events to a region covering 2.2 megabases (Mb) DNA within chromosome 4p16.3. We have screened three yeast artificial chromosome (YAC) libraries in order to isolate and characterize 44 YAC clones mapping to this region. ...Type of Medium: Electronic ResourceURL: -
5Articles: DFG German National LicensesSEIZINGER, B. R. ; TANZI, R. E. ; GILLIAM, T. C. ; BADER, J. L. ; PARRY, D. M. ; SPENCE, M. A. ; MARAZITA, M. L. ; GIBBONS, K. ; HOBBS, W. ; GUSELLA, J. F.
Oxford, UK : Blackwell Publishing Ltd
Published 1986Staff ViewISSN: 1749-6632Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: Natural Sciences in GeneralType of Medium: Electronic ResourceURL: -
6Articles: DFG German National LicensesStemmer-Rachamimov, A. O. ; Nielsen, G. P. ; Rosenberg, A. E. ; Louis, D. N. ; Jones, D. ; Ramesh, V. ; Gusella, J. F. ; Jacoby, L. B.
Springer
Published 1998Staff ViewISSN: 1364-6753Source: Springer Online Journal Archives 1860-2000Topics: MedicineType of Medium: Electronic ResourceURL: -
7Articles: DFG German National LicensesSimpson, N. E. ; Kidd, K. K. ; Goodfellow, P. J. ; McDermid, H. ; Myers, S. ; Kidd, J. R. ; Jackson, C. E. ; Duncan, A. M. V. ; Farrer, L. A. ; Brasch, K. ; Castiglione, C. ; Genel, M. ; Gertner, J. ; Greenberg, C. R. ; Gusella, J. F. ; Holden, J. J. A. ; White, B. N.
[s.l.] : Nature Publishing Group
Published 1987Staff ViewISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] The MEN2A syndrome is characterized by one or more of three types of tumours: medullary thyroid cancer (MTC), phaeo-chromocytomas (PHEOs) and parathyroid adenomas, of which MTC is both the most frequent and most aggressive. MTC and its presumed precursor, C-cell hyperplasia, are commonly detec- ...Type of Medium: Electronic ResourceURL: -
8Articles: DFG German National LicensesYoungman, Sandra ; Sarfarazi, M. ; Quarrell, O. W. J. ; Conneally, P. M. ; Gibbons, Karen ; Harper, P. S. ; Shaw, D. J. ; Tanzi, R. E. ; Wallace, Margaret R. ; Gusella, J. F.
Springer
Published 1986Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary Close genetic linkage has been shown between the DNA sequence G8 (locus D4S10) and 16 British families with Huntington disease using the HindIII, EcoR1, Nci1, and Pst1 polymorphisms detected by G8, and by combining all the polymorphisms to give a combined haplotype. Two recombinants have been detected in these families giving a maximum lod score of 17.60 at a Θ of 0.02. These results confirm the originally reported linkage between the loci and provide evidence against significant multilocus heterogeneity for Huntington disease.Type of Medium: Electronic ResourceURL: -
9Articles: DFG German National LicensesStaff View
ISSN: 1432-2013Keywords: sodium channel ; skeletal muscle ; XenopusSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract Sodium channels are multimeric structures composed of α and β subunits. Oocytes injected with RNA encoding only the α subunit express voltage-gated Na+ currents. The kinetics of inactivation, however, are abnormal. Co-injection of rat brain α and β subunits modifies inactivation of INa such that it closely resembles endogenous currents [1]. Here we show that a β subunit derived from human brain directs the same functional modification of INa expressed by a rat skeletal muscle α subunit. This implies that functional domains for the interaction of α and β subunits are highly conserved across both tissues and species.Type of Medium: Electronic ResourceURL: -
10Articles: DFG German National LicensesGrosson, C. L. S. ; MacDonald, M. E. ; Duyao, M. P. ; Ambrose, C. M. ; Roffler-Tarlov, S. ; Gusella, J. F.
Springer
Published 1994Staff ViewISSN: 1432-1777Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract The mouse homologs of the Huntington's disease (HD) gene and 17 other human Chromosome (Chr) 4 loci (including six previously unmapped) were localized by use of an interspecific cross. All loci mapped in a continuous linkage group on mouse Chr 5, distal to En2 and Il6, whose human counterparts are located on Chr y. The relative order of the loci on human Chr 4 and mouse Chr 5 was maintained, except for a break between D5H4S115E and Idua/rd, with relocation of the latter to the opposite end of the map. The mouse HD homolog (Hdh) mapped within a cluster of seven genes that were completely linked in our data set. In human these loci span a∼1.8 Mb stretch of human 4p 16.3 that has been entirely cloned. To date, there is no phenotypic correspondence between human and mouse mutations mapping to this region of synteny conservation.Type of Medium: Electronic ResourceURL: