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  • 1.
    Bianchi, Matteo
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Dahlgren, Stina
    Massey, Jonathan
    Dietschi, Elisabeth
    Kierczak, Marcin
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Lund-Ziener, Martine
    Sundberg, Katarina
    Thoresen, Stein Istre
    Kampe, Olle
    Andersson, Goran
    Ollier, William E. R.
    Hedhammar, Ake
    Leeb, Tosso
    Lindblad-Toh, Kerstin
    Kennedy, Lorna J.
    Lingaas, Frode
    Pielberg, Gerli Rosengren
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA122015Inngår i: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 10, nr 8, artikkel-id e0134720Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Hypothyroidism is a complex clinical condition found in both humans and dogs, thought to be caused by a combination of genetic and environmental factors. In this study we present a multi-breed analysis of predisposing genetic risk factors for hypothyroidism in dogs using three high-risk breeds-the Gordon Setter, Hovawart and the Rhodesian Ridgeback. Using a genome-wide association approach and meta-analysis, we identified a major hypothyroidism risk locus shared by these breeds on chromosome 12 (p = 2.1x10(-11)). Further characterisation of the candidate region revealed a shared similar to 167 kb risk haplotype (4,915,018-5,081,823 bp), tagged by two SNPs in almost complete linkage disequilibrium. This breed-shared risk haplotype includes three genes (LHFPL5, SRPK1 and SLC26A8) and does not extend to the dog leukocyte antigen (DLA) class II gene cluster located in the vicinity. These three genes have not been identified as candidate genes for hypothyroid disease previously, but have functions that could potentially contribute to the development of the disease. Our results implicate the potential involvement of novel genes and pathways for the development of canine hypothyroidism, raising new possibilities for screening, breeding programmes and treatments in dogs. This study may also contribute to our understanding of the genetic etiology of human hypothyroid disease, which is one of the most common endocrine disorders in humans.

  • 2.
    Dahlgren, Göran
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Teologiska fakulteten, Svenska Institutet för Missionsforskning.
    La promotion de la littérature francophone de l’Afrique subsaharienne par l’État français 1960–19902007Bok (Annet vitenskapelig)
    Abstract [en]

    Cette étude tente d’établir un lien entre politique et littérature. Le cas étudié est celui d’un concours interafricain de théâtre organisé par l’État français. Nous avons d’abord discuté des relations entre État et littérature en France à travers les âges. Ensuite, nous avons fait une étude des discours politiques qui concernent l’Afrique : le discours international sur la coopération, le discours national sur la coopération et le discours sur la francophonie. Nous avons retenu des mots-clés dans ces discours. La promotion de la littérature francophone subsaharienne effectuée par sept organismes basés en France a ensuite été étudiée. Il s’agit de la promotion de l’UNESCO, du Ministère des Affaires Étrangères, du Haut Conseil de la Francophonie, du Ministère de la Coopération, du Ministère de la Culture, de la Radio France Internationale et celle effectuée par l’Agence de Coopération Culturelle et Technique. À partir des informations obtenues sur l’action et les pratiques discursives des institutions en France nous avons retenu un certain nombre de mots-clés. Nous avons ensuite cherché ces mots-clés dans les textes littéraires. Nous avons trouvé que les auteurs africains trouvent l’occasion dans les textes de traiter des relations entre la France et les anciennes colonies, entre l’Afrique et l’Occident. La problématique offre des possibilités d’expression efficaces, quelle que soit la nature du texte dramatique (drame, tragédie ou farce). Nous avons relevé et discuté des mots-clés trouvés à la fois dans les discours politiques et dans les textes littéraires. La promotion étatique de la littérature francophone de l’Afrique subsaharienne porte sur l’édition et sur le maintien du français en Afrique. Dans le cas du concours de théâtre étudié, elle semble aboutir à la création d’une carrière d’écrivain et à la constitution d’un répertoire de théâtre en langue française.

  • 3.
    Ekvall, Sara
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Wilbe, Maria
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Dahlgren, Jovanna
    Gothenburg Univ, Sahlgrenska Acad, Dept Paediat, Gothenburg, Sweden..
    Legius, Eric
    Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium..
    van Haeringen, Arie
    Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands..
    Westphal, Otto
    Gothenburg Univ, Sahlgrenska Acad, Dept Paediat, Gothenburg, Sweden..
    Annerén, Göran
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Bondeson, Marie-Louise
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Mutation in NRAS in familial Noonan syndrome: case report and review of the literature2015Inngår i: BMC Medical Genetics, ISSN 1471-2350, E-ISSN 1471-2350, Vol. 16, artikkel-id 95Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Background: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway. Case presentation: Here, we present a clinical and molecular characterization of a small family with Noonan syndrome. Comprehensive mutation analysis of NF1, PTPN11, SOS1, CBL, BRAF, RAF1, SHOC2, MAP2K2, MAP2K1, SPRED1, NRAS, HRAS and KRAS was performed using targeted next-generation sequencing. The result revealed a recurrent mutation in NRAS, c.179G > A (p.G60E), in the index patient. This mutation was inherited from the index patient's father, who also showed signs of NS. Conclusions: We describe clinical features in this family and review the literature for genotype-phenotype correlations for NS patients with mutations in NRAS. Neither of affected individuals in this family presented with juvenile myelomonocytic leukemia (JMML), which together with previously published results suggest that the risk for NS individuals with a germline NRAS mutation developing JMML is not different from the proportion seen in other NS cases. Interestingly, 50 % of NS individuals with an NRAS mutation (including our family) present with lentigines and/or Cafe-au-lait spots. This demonstrates a predisposition to hyperpigmented lesions in NRAS-positive NS individuals. In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals with RASopathies correctly. The clinical and genetic heterogeneity observed in RASopathies is a challenge for genetic testing. However, next-generation sequencing technology, which allows screening of a large number of genes simultaneously, will facilitate an early and accurate diagnosis of patients with RASopathies.

  • 4.
    Rosengren, Karl Erik
    et al.
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Teologiska fakulteten, Teologiska institutionen.
    Gustafsson, Göran
    Pettersson, Thorleif
    Dahlgren, Curt
    Linderman, Alf G.
    Från text till data. Rapport från KUSS II-projektet om sammanställningen av en databas med tidningstexter1999Kapittel i bok, del av antologi (Annet vitenskapelig)
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