Search Results - (Author, Cooperation:A. Rauch)

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  1. 1
    S. 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 2011
    Staff View
    Publication Date:
    2011-09-02
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    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 Adult
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    Type of Medium:
    article
    Publication Date:
    2015
    Keywords:
    Psychosozialer Faktor ; Generation ; Arbeitsbedingungen ; Analyse ; Daten ; Älterer Arbeitnehmer
    In:
    Das Gesundheitswesen, Bd. 77 (2015) H. 4, S. 249-250, 0941-3790
    Language:
    German
    Note:
    Diagramm, Literaturangaben

    FIS Bildung Literaturdatenbank
  3. 3
    Staff View
    Publication Date:
    2018-06-05
    Publisher:
    Rockefeller University Press
    Print ISSN:
    0022-1007
    Electronic ISSN:
    1540-9538
    Topics:
    Medicine
    Keywords:
    Infectious Disease and Host Defense
    Published by:
    http://www.rupress.org/

    Latest Papers from Table of Contents or Articles in Press
  4. 4
    Staff View
    Publication Date:
    2018-02-09
    Publisher:
    Cold Spring Harbor Laboratory Press
    Electronic ISSN:
    1549-5469
    Topics:
    Biology
    Medicine
    Published by:
    http://www.cshlpress.com/

    Latest Papers from Table of Contents or Articles in Press
  5. 5
    Iuvone, P. M. ; Rauch, A. L. ; Marshburn, P. B. ; Glass, D. B. ; Neff, N. H.

    Oxford, UK : Blackwell Publishing Ltd
    Published 1982
    Staff View
    ISSN:
    1471-4159
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Notes:
    Abstract: Tyrosine hydroxylase in rat retina is activated in vivo as a consequence of photic stimulation. Tyrosine hydroxylase in crude extracts of dark-adapted retinas is activated in vitro by incubation under conditions that stimulate protein phosphorylation by cyclic AMP-dependent protein kinase. Comparison of the activations of the enzyme by photic stimulation in vivo and protein phosphorylation in vitro demonstrated several similarities. Both treatments decreased the apparent Km of the enzyme for the synthetic pterin cofactor 6MPH4. Both treatments also produced the same change in the relationships of tyrosine hydroxylase activity to assay pH. When retinal extracts containing tyrosine hydroxylase activated either in vivo by photic stimulation or in vitro by protein phosphorylation were incubated at 25°C, the enzyme was inactivated in a time-dependent manner. The inactivation of the enzyme following both activation in vivo and activation in vitro was partially inhibited by sodium pyrophosphate, an inhibitor of phosphoprotein phosphatase. In addition to these similarities, the activation of tyrosine hydroxylase in vivo by photic stimulation was not additive to the activation in vitro by protein phosphorylation. These data indicate that the mechanism for the activation of tyrosine hydroxylase that occurs as a consequence of light-induced increases of neuronal activity is similar to the mechanism for activation of the enzyme in vitro by protein phosphorylation. This observation suggests that the activation of retinal tyrosine hydroxylase in vivo may be mediated by phosphorylation of tyrosine hydroxylase or some effector molecule associated with the enzyme.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1111/j.1471-4159.1982.tb07997.x

    Articles: DFG German National Licenses
  6. 6
    Rauch, A. Christine ; Garg, Shila ; Jacobs, D. T.

    College Park, Md. : American Institute of Physics (AIP)
    Published 2002
    Staff View
    ISSN:
    1089-7690
    Source:
    AIP Digital Archive
    Topics:
    Physics
    Chemistry and Pharmacology
    Notes:
    Our objective was to study mixtures of nematic liquid crystals with dissimilar dielectric anisotropies but similar phase properties. Using light scattering and microscopy, we have established the phase boundaries and transition widths of mixtures of 4′-n-pentyl-4-cyanobiphenyl and 4′-methoxybenzylidene-4-butylaniline. In addition to the isotropic-nematic transition, there is a second induced phase for certain concentrations, which we conclude is an induced smectic B phase. Recent theoretical works provide a model for nematic to induced smectic A transition by combining Flory–Huggins and Maier–Saupe–McMillan theories. From our phase transition data and the application of the above theoretical framework, we conclude that there is a possibility of strong interaction between the two mesogens that produces the smectic B phase. © 2002 American Institute of Physics.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1063/1.1431589

    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Key words Deletion 9p ; Duplication 8q ; Defective male sexual morphogenesis
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. Conclusion This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004310051052

    Articles: DFG German National Licenses
  8. 8
    Hofbeck, M. ; Leipold, G. ; Rauch, A. ; Buheitel, G. ; Singer, H.
    Springer
    Published 1999
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Key words Congenital heart disease ; Pulmonary atresia and ventricular septal defect ; Genetics ; Monosomy 22q11.2
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract The purpose of our study was to describe the prevalence and the clinical spectrum of monosomy 22q11.2 in a population of patients with pulmonary atresia and ventricular septal defect. We examined all 44 patients with this conotruncal cardiac malformation who presented to our institution from January 1994 until December 1997. The type of collateral lung perfusion was recorded including anomalies of the pulmonary arteries as well as facial and immunological abnormalities. Molecular-cytogenetic testing for a 22q11.2 microdeletion was performed using the probes D22S75 and cHKAD26. Statistical differences were evaluated with the Fisher's Exact Test. Monosomy 22q11.2 was present in ten children (23%) with major aortopulmonary collateral arteries (group 1). The remaining 13 children (29%) with major aortopulmonary collateral arteries (group 2) and all 21 children (48%) with ductus arteriosus (group 3) were negative for this microdeletion. All children in group 1 had facial anomalies, six had mild immunological abnormalities including decreased CD 4+ or CD 8+ cells. Anomalies of the pulmonary vascular bed were significantly more frequent in children of group 1 (9/10) than in children of group 2 (4/13) or group 3 (0/21). Due to these pulmonary vascular anomalies, corrective surgery had been accomplished in fewer children with monosomy 22q11.2 (none in group 1) as compared to 7/13 children in group 2 and 14/21 children in group 3. Conclusion In children with pulmonary atresia and ventricular septal defect, monosomy 22q11.2 is preferentially associated with major aortopulmonary collateral arteries. Due to the higher incidence of pulmonary arterial abnormalities, successful surgical repair will require a different therapeutic approach in most patients with this microdeletion.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004310051077

    Articles: DFG German National Licenses
  9. 9
    Jensen, M. ; Zahn, V. ; Rauch, A. ; Loukopoulos, D.
    Springer
    Published 1979
    Staff View
    ISSN:
    1432-1440
    Keywords:
    Thalassämie ; Praenatale Diagnose ; Genetische Beratung ; Globinsynthese ; Thalassemia ; Prenatal diagnosis ; Genetic counseling ; globin synthesis
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Description / Table of Contents:
    Summary Prenatal diagnosis was attempted in 14 fetuses at risk for homozygous β-thalassemia, gestational age 18–22 weeks. In 4 cases the placenta was entirely anterior, placental aspiration under ultrasonic control only had to be used for fetal blood sampling. In 10 fetuses fetoscopy was used for puncture of a chorionic blood vessel. Diagnoses were based on the rate of in vitro synthesis of β-globin related to total non-αglobin synthesis. With the aid of fetoscopy, nearly pure fetal blood was obtained in general. Placental aspiration resulted in samples which contained a low percentage of fetal and a high percentage of maternal cells. The attempt of fetal blood sampling resulted in fetal loss in two cases. In 2 aspiration cases no diagnosis could be made because the samples were inadequate. In 2 cases the diagnosis was established in spite of low fetal cell content through determination of the specific radioactivity in the placental and pure maternal blood. Until now 6 children have been born in whom prenatal diagnosis had been attempted, none of them has homozygous thalassemia. Present efforts are directed toward improving the safety of fetal blood sampling and the biochemical methods for the diagnosis in placental samples with low fetal cell content. Although the prenatal diagnosis of β-thalassemia is possible, the procedure has still to be considered experimental.
    Notes:
    Zusammenfassung Bei 14 Feten mit dem genetischen Risiko einer homozygoten β-Thalassämie wurde in der 18.–22. Schwangerschaftswoche eine pränatale Diagnose versucht. In 4 Fällen handelte es sich um eine reine Vorderwandplacenta. Zur fetalen Blutentnahme mußte hier die Placenta blind, lediglich unter Ultraschallkontrolle punktiert werden. Bei 10 Feten wurde die Fetoskopie angewendet, um ein Choriongefäß zu punktieren. Zur Stellung der Diagnosen wurde der Anteil der in vitro β-Globin-Synthese an der gesamten nicht-α-Globin-Synthese bestimmt. Mit Hilfe der Fetoskopie wurde im allgemeinen fast reines Fetalblut gewonnen, während die durch Placenta-Aspiration gewonnen Proben nur einen geringen Prozentsatz fetaler und einen hohen Prozentsatz mütterlicher Zellen enthielten. Der Versuch der Fetalblutentnahme führte in zwei Fällen zum Verlust des Feten. 2 durch Placenta-Aspiration gewonnene Proben waren für die Diagnosestellung nicht geeignet, in 2 Fällen wurde die Diagnose gestellt, obwohl der Anteil fetaler Zellen gering war, indem die spezifische Radioaktivität der Globine in der Placentablutprobe und in reinem mütterlichen Blut bestimmt wurde. Die so gewonnenen Daten ermöglichen ein Zurückrechnen auf die fetalen Globinsyntheseverhältnisse. Bis jetzt wurden 6 Kinder geboren, bei denen pränatal eine Diagnose gestellt worden war. Keines hat eine homozygote β-Thalassämie. Gegenwärtige Bestrebungen sind darauf gerichtet, die Sicherheit der fetalen Blutentnahme zu erhöhen und biochemische Methoden für die Diagnosestellung in Placentablutproben mit geringem fetalen Anteil zu entwickeln. Obwohl die Pränataldiagnose der β-Thalassämie möglich ist, muß das Verfahren noch als experimentell angesehen werden.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01476980

    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    1618-2650
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Chemistry and Pharmacology
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02423659

    Articles: DFG German National Licenses
  11. 11
    Staff View
    ISSN:
    1618-2650
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Chemistry and Pharmacology
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02423286

    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    1618-2650
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Chemistry and Pharmacology
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02423270

    Articles: DFG German National Licenses