Search Results - (Author, Cooperation:R. J. Scott)

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  1. 1
    C. A. Rietveld ; S. E. Medland ; J. Derringer ; J. Yang ; T. Esko ; N. W. Martin ; H. J. Westra ; K. Shakhbazov ; A. Abdellaoui ; A. Agrawal ; E. Albrecht ; B. Z. Alizadeh ; N. Amin ; J. Barnard ; S. E. Baumeister ; K. S. Benke ; L. F. Bielak ; J. A. Boatman ; P. A. Boyle ; G. Davies ; C. de Leeuw ; N. Eklund ; D. S. Evans ; R. Ferhmann ; K. Fischer ; C. Gieger ; H. K. Gjessing ; S. Hagg ; J. R. Harris ; C. Hayward ; C. Holzapfel ; C. A. Ibrahim-Verbaas ; E. Ingelsson ; B. Jacobsson ; P. K. Joshi ; A. Jugessur ; M. Kaakinen ; S. Kanoni ; J. Karjalainen ; I. Kolcic ; K. Kristiansson ; Z. Kutalik ; J. Lahti ; S. H. Lee ; P. Lin ; P. A. Lind ; Y. Liu ; K. Lohman ; M. Loitfelder ; G. McMahon ; P. M. Vidal ; O. Meirelles ; L. Milani ; R. Myhre ; M. L. Nuotio ; C. J. Oldmeadow ; K. E. Petrovic ; W. J. Peyrot ; O. Polasek ; L. Quaye ; E. Reinmaa ; J. P. Rice ; T. S. Rizzi ; H. Schmidt ; R. Schmidt ; A. V. Smith ; J. A. Smith ; T. Tanaka ; A. Terracciano ; M. J. van der Loos ; V. Vitart ; H. Volzke ; J. Wellmann ; L. Yu ; W. Zhao ; J. Allik ; J. R. Attia ; S. Bandinelli ; F. Bastardot ; J. Beauchamp ; D. A. Bennett ; K. Berger ; L. J. Bierut ; D. I. Boomsma ; U. Bultmann ; H. Campbell ; C. F. Chabris ; L. Cherkas ; M. K. Chung ; F. Cucca ; M. de Andrade ; P. L. De Jager ; J. E. De Neve ; I. J. Deary ; G. V. Dedoussis ; P. Deloukas ; M. Dimitriou ; G. Eiriksdottir ; M. F. Elderson ; J. G. Eriksson ; D. M. Evans ; J. D. Faul ; L. Ferrucci ; M. E. Garcia ; H. Gronberg ; V. Guethnason ; P. Hall ; J. M. Harris ; T. B. Harris ; N. D. Hastie ; A. C. Heath ; D. G. Hernandez ; W. Hoffmann ; A. Hofman ; R. Holle ; E. G. Holliday ; J. J. Hottenga ; W. G. Iacono ; T. Illig ; M. R. Jarvelin ; M. Kahonen ; J. Kaprio ; R. M. Kirkpatrick ; M. Kowgier ; A. Latvala ; L. J. Launer ; D. A. Lawlor ; T. Lehtimaki ; J. Li ; P. Lichtenstein ; P. Lichtner ; D. C. Liewald ; P. A. Madden ; P. K. Magnusson ; T. E. Makinen ; M. Masala ; M. McGue ; A. Metspalu ; A. Mielck ; M. B. Miller ; G. W. Montgomery ; S. Mukherjee ; D. R. Nyholt ; B. A. Oostra ; L. J. Palmer ; A. Palotie ; B. W. Penninx ; M. Perola ; P. A. Peyser ; M. Preisig ; K. Raikkonen ; O. T. Raitakari ; A. Realo ; S. M. Ring ; S. Ripatti ; F. Rivadeneira ; I. Rudan ; A. Rustichini ; V. Salomaa ; A. P. Sarin ; D. Schlessinger ; R. J. Scott ; H. Snieder ; B. St Pourcain ; J. M. Starr ; J. H. Sul ; I. Surakka ; R. Svento ; A. Teumer ; H. Tiemeier ; F. J. van Rooij ; D. R. Van Wagoner ; E. Vartiainen ; J. Viikari ; P. Vollenweider ; J. M. Vonk ; G. Waeber ; D. R. Weir ; H. E. Wichmann ; E. Widen ; G. Willemsen ; J. F. Wilson ; A. F. Wright ; D. Conley ; G. Davey-Smith ; L. Franke ; P. J. Groenen ; M. Johannesson ; S. L. Kardia ; R. F. Krueger ; D. Laibson ; N. G. Martin ; M. N. Meyer ; D. Posthuma ; A. R. Thurik ; N. J. Timpson ; A. G. Uitterlinden ; C. M. van Duijn ; P. M. Visscher ; D. J. Benjamin ; D. Cesarini ; P. D. Koellinger
    American Association for the Advancement of Science (AAAS)
    Published 2013
    Staff View
    Publication Date:
    2013-06-01
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Cognition ; *Educational Status ; Endophenotypes ; Female ; Genetic Loci ; *Genome-Wide Association Study ; Humans ; Male ; Multifactorial Inheritance ; *Polymorphism, Single Nucleotide
    Published by:
    Latest Papers from Table of Contents or Articles in Press
  2. 2
    A. Okbay ; J. P. Beauchamp ; M. A. Fontana ; J. J. Lee ; T. H. Pers ; C. A. Rietveld ; P. Turley ; G. B. Chen ; V. Emilsson ; S. F. Meddens ; S. Oskarsson ; J. K. Pickrell ; K. Thom ; P. Timshel ; R. de Vlaming ; A. Abdellaoui ; T. S. Ahluwalia ; J. Bacelis ; C. Baumbach ; G. Bjornsdottir ; J. H. Brandsma ; M. Pina Concas ; J. Derringer ; N. A. Furlotte ; T. E. Galesloot ; G. Girotto ; R. Gupta ; L. M. Hall ; S. E. Harris ; E. Hofer ; M. Horikoshi ; J. E. Huffman ; K. Kaasik ; I. P. Kalafati ; R. Karlsson ; A. Kong ; J. Lahti ; S. J. van der Lee ; C. deLeeuw ; P. A. Lind ; K. O. Lindgren ; T. Liu ; M. Mangino ; J. Marten ; E. Mihailov ; M. B. Miller ; P. J. van der Most ; C. Oldmeadow ; A. Payton ; N. Pervjakova ; W. J. Peyrot ; Y. Qian ; O. Raitakari ; R. Rueedi ; E. Salvi ; B. Schmidt ; K. E. Schraut ; J. Shi ; A. V. Smith ; R. A. Poot ; B. St Pourcain ; A. Teumer ; G. Thorleifsson ; N. Verweij ; D. Vuckovic ; J. Wellmann ; H. J. Westra ; J. Yang ; W. Zhao ; Z. Zhu ; B. Z. Alizadeh ; N. Amin ; A. Bakshi ; S. E. Baumeister ; G. Biino ; K. Bonnelykke ; P. A. Boyle ; H. Campbell ; F. P. Cappuccio ; G. Davies ; J. E. De Neve ; P. Deloukas ; I. Demuth ; J. Ding ; P. Eibich ; L. Eisele ; N. Eklund ; D. M. Evans ; J. D. Faul ; M. F. Feitosa ; A. J. Forstner ; I. Gandin ; B. Gunnarsson ; B. V. Halldorsson ; T. B. Harris ; A. C. Heath ; L. J. Hocking ; E. G. Holliday ; G. Homuth ; M. A. Horan ; J. J. Hottenga ; P. L. de Jager ; P. K. Joshi ; A. Jugessur ; M. A. Kaakinen ; M. Kahonen ; S. Kanoni ; L. Keltigangas-Jarvinen ; L. A. Kiemeney ; I. Kolcic ; S. Koskinen ; A. T. Kraja ; M. Kroh ; Z. Kutalik ; A. Latvala ; L. J. Launer ; M. P. Lebreton ; D. F. Levinson ; P. Lichtenstein ; P. Lichtner ; D. C. Liewald ; A. Loukola ; P. A. Madden ; R. Magi ; T. Maki-Opas ; R. E. Marioni ; P. Marques-Vidal ; G. A. Meddens ; G. McMahon ; C. Meisinger ; T. Meitinger ; Y. Milaneschi ; L. Milani ; G. W. Montgomery ; R. Myhre ; C. P. Nelson ; D. R. Nyholt ; W. E. Ollier ; A. Palotie ; L. Paternoster ; N. L. Pedersen ; K. E. Petrovic ; D. J. Porteous ; K. Raikkonen ; S. M. Ring ; A. Robino ; O. Rostapshova ; I. Rudan ; A. Rustichini ; V. Salomaa ; A. R. Sanders ; A. P. Sarin ; H. Schmidt ; R. J. Scott ; B. H. Smith ; J. A. Smith ; J. A. Staessen ; E. Steinhagen-Thiessen ; K. Strauch ; A. Terracciano ; M. D. Tobin ; S. Ulivi ; S. Vaccargiu ; L. Quaye ; F. J. van Rooij ; C. Venturini ; A. A. Vinkhuyzen ; U. Volker ; H. Volzke ; J. M. Vonk ; D. Vozzi ; J. Waage ; E. B. Ware ; G. Willemsen ; J. R. Attia ; D. A. Bennett ; K. Berger ; L. Bertram ; H. Bisgaard ; D. I. Boomsma ; I. B. Borecki ; U. Bultmann ; C. F. Chabris ; F. Cucca ; D. Cusi ; I. J. Deary ; G. V. Dedoussis ; C. M. van Duijn ; J. G. Eriksson ; B. Franke ; L. Franke ; P. Gasparini ; P. V. Gejman ; C. Gieger ; H. J. Grabe ; J. Gratten ; P. J. Groenen ; V. Gudnason ; P. van der Harst ; C. Hayward ; D. A. Hinds ; W. Hoffmann ; E. Hypponen ; W. G. Iacono ; B. Jacobsson ; M. R. Jarvelin ; K. H. Jockel ; J. Kaprio ; S. L. Kardia ; T. Lehtimaki ; S. F. Lehrer ; P. K. Magnusson ; N. G. Martin ; M. McGue ; A. Metspalu ; N. Pendleton ; B. W. Penninx ; M. Perola ; N. Pirastu ; M. Pirastu ; O. Polasek ; D. Posthuma ; C. Power ; M. A. Province ; N. J. Samani ; D. Schlessinger ; R. Schmidt ; T. I. Sorensen ; T. D. Spector ; K. Stefansson ; U. Thorsteinsdottir ; A. R. Thurik ; N. J. Timpson ; H. Tiemeier ; J. Y. Tung ; A. G. Uitterlinden ; V. Vitart ; P. Vollenweider ; D. R. Weir ; J. F. Wilson ; A. F. Wright ; D. C. Conley ; R. F. Krueger ; G. Davey Smith ; A. Hofman ; D. I. Laibson ; S. E. Medland ; M. N. Meyer ; M. Johannesson ; P. M. Visscher ; T. Esko ; P. D. Koellinger ; D. Cesarini ; D. J. Benjamin
    Nature Publishing Group (NPG)
    Published 2016
    Staff View
    Publication Date:
    2016-05-27
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Published by:
    Latest Papers from Table of Contents or Articles in Press
  3. 3
    S. Sawcer ; G. Hellenthal ; M. Pirinen ; C. C. Spencer ; N. A. Patsopoulos ; L. Moutsianas ; A. Dilthey ; Z. Su ; C. Freeman ; S. E. Hunt ; S. Edkins ; E. Gray ; D. R. Booth ; S. C. Potter ; A. Goris ; G. Band ; A. B. Oturai ; A. Strange ; J. Saarela ; C. Bellenguez ; B. Fontaine ; M. Gillman ; B. Hemmer ; R. Gwilliam ; F. Zipp ; A. Jayakumar ; R. Martin ; S. Leslie ; S. Hawkins ; E. Giannoulatou ; S. D'Alfonso ; H. Blackburn ; F. Martinelli Boneschi ; J. Liddle ; H. F. Harbo ; M. L. Perez ; A. Spurkland ; M. J. Waller ; M. P. Mycko ; M. Ricketts ; M. Comabella ; N. Hammond ; I. Kockum ; O. T. McCann ; M. Ban ; P. Whittaker ; A. Kemppinen ; P. Weston ; C. Hawkins ; S. Widaa ; J. Zajicek ; S. Dronov ; N. Robertson ; S. J. Bumpstead ; L. F. Barcellos ; R. Ravindrarajah ; R. Abraham ; L. Alfredsson ; K. Ardlie ; C. Aubin ; A. Baker ; K. Baker ; S. E. Baranzini ; L. Bergamaschi ; R. Bergamaschi ; A. Bernstein ; A. Berthele ; M. Boggild ; J. P. Bradfield ; D. Brassat ; S. A. Broadley ; D. Buck ; H. Butzkueven ; R. Capra ; W. M. Carroll ; P. Cavalla ; E. G. Celius ; S. Cepok ; R. Chiavacci ; F. Clerget-Darpoux ; K. Clysters ; G. Comi ; M. Cossburn ; I. Cournu-Rebeix ; M. B. Cox ; W. Cozen ; B. A. Cree ; A. H. Cross ; D. Cusi ; M. J. Daly ; E. Davis ; P. I. de Bakker ; M. Debouverie ; B. D'Hooghe M ; K. Dixon ; R. Dobosi ; B. Dubois ; D. Ellinghaus ; I. Elovaara ; F. Esposito ; C. Fontenille ; S. Foote ; A. Franke ; D. Galimberti ; A. Ghezzi ; J. Glessner ; R. Gomez ; O. Gout ; C. Graham ; S. F. Grant ; F. R. Guerini ; H. Hakonarson ; P. Hall ; A. Hamsten ; H. P. Hartung ; R. N. Heard ; S. Heath ; J. Hobart ; M. Hoshi ; C. Infante-Duarte ; G. Ingram ; W. Ingram ; T. Islam ; M. Jagodic ; M. Kabesch ; A. G. Kermode ; T. J. Kilpatrick ; C. Kim ; N. Klopp ; K. Koivisto ; M. Larsson ; M. Lathrop ; J. S. Lechner-Scott ; M. A. Leone ; V. Leppa ; U. Liljedahl ; I. L. Bomfim ; R. R. Lincoln ; J. Link ; J. Liu ; A. R. Lorentzen ; S. Lupoli ; F. Macciardi ; T. Mack ; M. Marriott ; V. Martinelli ; D. Mason ; J. L. McCauley ; F. Mentch ; I. L. Mero ; T. Mihalova ; X. Montalban ; J. Mottershead ; K. M. Myhr ; P. Naldi ; W. Ollier ; A. Page ; A. Palotie ; J. Pelletier ; L. Piccio ; T. Pickersgill ; F. Piehl ; S. Pobywajlo ; H. L. Quach ; P. P. Ramsay ; M. Reunanen ; R. Reynolds ; J. D. Rioux ; M. Rodegher ; S. Roesner ; J. P. Rubio ; I. M. Ruckert ; M. Salvetti ; E. Salvi ; A. Santaniello ; C. A. Schaefer ; S. Schreiber ; C. Schulze ; R. J. Scott ; F. Sellebjerg ; K. W. Selmaj ; D. Sexton ; L. Shen ; B. Simms-Acuna ; S. Skidmore ; P. M. Sleiman ; C. Smestad ; P. S. Sorensen ; H. B. Sondergaard ; J. Stankovich ; R. C. Strange ; A. M. Sulonen ; E. Sundqvist ; A. C. Syvanen ; F. Taddeo ; B. Taylor ; J. M. Blackwell ; P. Tienari ; E. Bramon ; A. Tourbah ; M. A. Brown ; E. Tronczynska ; J. P. Casas ; N. Tubridy ; A. Corvin ; J. Vickery ; J. Jankowski ; P. Villoslada ; H. S. Markus ; K. Wang ; C. G. Mathew ; J. Wason ; C. N. Palmer ; H. E. Wichmann ; R. Plomin ; E. Willoughby ; A. Rautanen ; J. Winkelmann ; M. Wittig ; R. C. Trembath ; J. Yaouanq ; A. C. Viswanathan ; H. Zhang ; N. W. Wood ; R. Zuvich ; P. Deloukas ; C. Langford ; A. Duncanson ; J. R. Oksenberg ; M. A. Pericak-Vance ; J. L. Haines ; T. Olsson ; J. Hillert ; A. J. Ivinson ; P. L. De Jager ; L. Peltonen ; G. J. Stewart ; D. A. Hafler ; S. L. Hauser ; G. McVean ; P. Donnelly ; A. Compston
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-08-13
    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:
    Alleles ; Cell Differentiation/immunology ; Europe/ethnology ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; Genome-Wide Association Study ; HLA-A Antigens/genetics ; HLA-DR Antigens/genetics ; HLA-DRB1 Chains ; Humans ; Immunity, Cellular/genetics/*immunology ; Major Histocompatibility Complex/genetics ; Multiple Sclerosis/*genetics/*immunology ; Polymorphism, Single Nucleotide/genetics ; Sample Size ; T-Lymphocytes, Helper-Inducer/cytology/immunology
    Published by:
    Latest Papers from Table of Contents or Articles in Press
  4. 4
    Staff View
    Publication Date:
    2018-02-14
    Publisher:
    American Chemical Society (ACS)
    Print ISSN:
    1528-7483
    Electronic ISSN:
    1528-7505
    Topics:
    Chemistry and Pharmacology
    Geosciences
    Physics
    Published by:
    Latest Papers from Table of Contents or Articles in Press
  5. 5
    Scott, R. J. ; Judge, K. A. ; Ramster, K. ; Noakes, D. L. G. ; Beamish, F. W. H.

    Oxford, UK : Munksgaard International Publishers
    Published 2005
    Staff View
    ISSN:
    1600-0633
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Biology
    Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes:
    Abstract –  Atlantic salmon (Salmo salar) was once native to Lake Ontario, however, its numbers rapidly declined following colonisation by Europeans and the species was extirpated by 1896. Government agencies surrounding Lake Ontario are currently undertaking a variety of studies to assess the feasibility of reintroducing Atlantic salmon. We released hatchery-reared adult Atlantic salmon into a Lake Ontario tributary to examine spawning interactions between this species and fall-spawning exotic salmonids found in the same stream. Chinook salmon, coho salmon and brown trout were observed interacting with spawning Atlantic salmon in nearly one-quarter of our observation bouts, with chinook salmon interacting most frequently. Whereas a previous investigation found that chinook salmon caused elevated agonistic behaviour and general activity by spawning Atlantic salmon, the present study found that interspecific courtship was the most common form of exotic interaction with spawning Atlantic salmon. In particular, we observed precocial male Chinook salmon courting female Atlantic salmon and defending the female against approach by male Atlantic salmon. We discuss the potential implications of these interactions on the Lake Ontario Atlantic salmon reintroduction programme.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  6. 6
    Scott, R. J.

    Oxford, UK : Munksgaard International Publishers
    Published 2004
    Staff View
    ISSN:
    1600-0633
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Biology
    Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes:
    Abstract –  The idea that sexual selection can lead to rapid evolution of premating isolation among independent populations (speciation) has been controversial, but is rapidly gaining acceptance among many evolutionary biologists as empirical examples accumulate. A survey of male signals and female preferences (mate recognition systems, MRSs) across the contact zone between divergent populations of threespine stickleback (Gasterosteus aculeatus) in Conner Creek, WA, revealed a spatial pattern of MRSs that is consistent with speciation via sexual selection. Females from locations that possessed melanic males preferred melanic males whereas females from populations possessing typical mosaic males (red chin, blue iris, and blue-green dorsum) preferred mosaic males. I argue that sensory drive sexual selection, acting through geographically varying spectral properties, is responsible for the observed population differences and premating isolation between the adjacent populations.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  7. 7
    Scott, R. J. ; Poos, M. S. ; Noakes, D. L. G. ; Beamish, F. W. H.

    Oxford, UK : Munksgaard International Publishers
    Published 2005
    Staff View
    ISSN:
    1600-0633
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Biology
    Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes:
    Abstract –  We examined the effects of two salmonid species, chinook salmon (Oncorhynchus tschwaytscha) and brown trout (Salmo trutta), both exotic species to Lake Ontario, on behaviour and foraging success of juvenile Atlantic salmon (S. salar), a native species to Lake Ontario, in an artificial stream. We found that both exotic species have effects on Atlantic salmon behaviour, but that neither had an effect on foraging success. These results may explain why the Atlantic salmon re-introduction programme in Lake Ontario has had little success, as more than 3 million exotic salmonids are released in Lake Ontario streams annually.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  8. 8
    SCOTT, R. J.

    Oxford, UK : Blackwell Publishing Ltd
    Published 2001
    Staff View
    ISSN:
    1095-8649
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Biology
    Notes:
    Three-spined sticklebacks Gasterosteus aculeatus, from the Chehalis River drainage. Washington, U.S.A., that have lost the mosaic nuptial signal were more likely to be found in tannin stained sub-drainages whereas those expressing the mosaic nuptial signal were more likely to be found in sub-drainages that were not tannin stained. This result is consistent with the sensory drive model.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  9. 9
    Koch, K. M. ; Corrigan, B. W. ; Manzo, J. ; James, C. D. ; Scott, R. J. ; Stead, A. G. ; Kersey, K. E.

    Oxford, UK : Blackwell Science Ltd
    Published 2004
    Staff View
    ISSN:
    1365-2036
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Notes:
    Aim : To assess the pharmacokinetics of alosetron, its effect on in vivo enzyme activities, and influence of demographic factors during repeated dosing.Methods : Thirty healthy men and women received 1 mg oral alosetron twice-daily for 29.5 days and a single oral dose of a metabolic probe cocktail before and on the last day of alosetron dosing. Serum alosetron concentrations were measured on days 1, 8, 15, 22 and 29. Probe-substrate and metabolite concentrations were measured after each cocktail dose.Results : Alosetron accumulation in serum was negligible. Exposure to alosetron did not alter probe-metabolite/substrate ratios associated with CYP2C19, 2E1, 2C9, or 3A4 activity, but modestly decreased those associated with CYP1A2 and N-acetyltransferase activity. Systemic exposure to alosetron was higher in women, positively correlated with age and body mass index, and negatively correlated with CYP1A2 activity. Incidence of constipation was higher in women, but not associated with alosetron concentration.Conclusions : Single dose data can reliably predict the pharmacokinetics of alosetron after repeated doses. Alosetron exhibits limited potential for inhibition of cytochrome P450-mediated metabolism. Interindividual differences in alosetron pharmacokinetics associated with demographic factors may be related to strong dependence on metabolism by CYP1A2.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    1432-2307
    Keywords:
    Key words Blomstrand osteochondrodysplasia ; Bone density ; Clinical heterogeneity ; Histopathology ; Radiography
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract  Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. The results of our study confirm the existence of two separate types of BOCD, which we propose naming type I: the severe, ’classical’ form, and type II: a less severe form.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  11. 11
    Dobbie, Zuzana ; Müller, Hansjakob ; Scott, R. J.
    Springer
    Published 1996
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract Recent studies in mice have provided strong evidence for a modifier gene that is capable of effecting the expression of the mouse equivalent of familial adenomatous polyposis (FAP). A candidate gene has been proposed, namely secretory phospholipase A2 (sPLA2). Increased tumor number in mice was correlated with low levels of sPLA2 expression and the presence of truncating mutations within the sPLA2 gene. In an attempt to determine whether any genetic alterations in the sPLA2 gene were associated with the expression of FAP in man, we investigated the genetic structure of sPLA2 in 97 polyposis coli patients presenting with various disease phenotypes, and its expression in 8 FAP patients displaying markedly different disease characteristics. In the current study no inactivating mutations in the sPLA2 gene were identified, suggesting that human sPLA2 is not associated with phenotypic variation in FAP.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  13. 13
    Staff View
    ISSN:
    1573-5028
    Keywords:
    Brassica napus ; microspore-specific ; microsporogenesis ; DNA sequence ; peptide motif
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Notes:
    Abstract The I3 cDNA isolated from a library made from 2–4 mm (immature) anthers of Brassica napus shows microspore-specific expression. Homologous transcripts are detected in buds and anthers of male-fertile plants, but not in green tissues, roots, or in cytoplasmic male-sterile buds. High expression of the transcript is limited to microspores entering and undergoing mitosis. The predicted peptide sequence of the cDNA shows an unusual repeated alanine/proline motif at the C-terminus, which may be of importance in the native protein structure.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  14. 14
    Staff View
    ISSN:
    1572-9931
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract Antibiotic resistance to G418 has been transferred into Chinese hamster cell lines via a plasmid vector. The same plasmid, which also contained the Leu2 gene, has been used to transform Leu2− yeast (strain MCI6) to leucine prototrophy. Subsequent fusion between transformed yeast and untransformed hamster cells demonstrated that plasmid DNA could be transferred and its genes expressed within the mammalian cell genome. The fusion of transformed hamster cells with untransformed MC16 yeast cells demonstrated that DNA integrated within the mammalian cell genome could be transferred to correct the Leu2 deficiency and also confer G418 resistance on some yeast colonies.
    Type of Medium:
    Electronic Resource
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    Articles: DFG German National Licenses