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  1. Article ; Online: Gene expression dysregulation domains are not a specific feature of Down syndrome

    Helena Ahlfors / Nneka Anyanwu / Edvinas Pakanavicius / Natalia Dinischiotu / Eva Lana-Elola / Sheona Watson-Scales / Justin Tosh / Frances Wiseman / James Briscoe / Karen Page / Elizabeth M. C. Fisher / Victor L. J. Tybulewicz

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Volume 12

    Abstract: Gene expression dysregulation domains (GEDDs) have been reported in Down syndrome (DS) cells, where changes in gene expression are clustered. Here the authors find that, while GEDDs are present in DS cells and in the Dp1Tyb mouse model of DS, GEDDs do ... ...

    Abstract Gene expression dysregulation domains (GEDDs) have been reported in Down syndrome (DS) cells, where changes in gene expression are clustered. Here the authors find that, while GEDDs are present in DS cells and in the Dp1Tyb mouse model of DS, GEDDs do not depend on the DS genotype and occur whenever gene expression changes, suggesting they result from the clustering of co-regulated genes as a function of mammalian genome organisation.
    Keywords Science ; Q
    Language English
    Publishing date 2019-06-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Gene expression dysregulation domains are not a specific feature of Down syndrome

    Helena Ahlfors / Nneka Anyanwu / Edvinas Pakanavicius / Natalia Dinischiotu / Eva Lana-Elola / Sheona Watson-Scales / Justin Tosh / Frances Wiseman / James Briscoe / Karen Page / Elizabeth M. C. Fisher / Victor L. J. Tybulewicz

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Volume 12

    Abstract: Gene expression dysregulation domains (GEDDs) have been reported in Down syndrome (DS) cells, where changes in gene expression are clustered. Here the authors find that, while GEDDs are present in DS cells and in the Dp1Tyb mouse model of DS, GEDDs do ... ...

    Abstract Gene expression dysregulation domains (GEDDs) have been reported in Down syndrome (DS) cells, where changes in gene expression are clustered. Here the authors find that, while GEDDs are present in DS cells and in the Dp1Tyb mouse model of DS, GEDDs do not depend on the DS genotype and occur whenever gene expression changes, suggesting they result from the clustering of co-regulated genes as a function of mammalian genome organisation.
    Keywords Science ; Q
    Language English
    Publishing date 2019-06-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Article ; Online: Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus

    Simone Granno / Jonathon Nixon-Abell / Daniel C. Berwick / Justin Tosh / George Heaton / Sultan Almudimeegh / Zenisha Nagda / Jean-Christophe Rain / Manuela Zanda / Vincent Plagnol / Victor L. J. Tybulewicz / Karen Cleverley / Frances K. Wiseman / Elizabeth M. C. Fisher / Kirsten Harvey

    Scientific Reports, Vol 9, Iss 1, Pp 1-

    2019  Volume 20

    Abstract: Abstract Pathological mechanisms underlying Down syndrome (DS)/Trisomy 21, including dysregulation of essential signalling processes remain poorly understood. Combining bioinformatics with RNA and protein analysis, we identified downregulation of the Wnt/ ...

    Abstract Abstract Pathological mechanisms underlying Down syndrome (DS)/Trisomy 21, including dysregulation of essential signalling processes remain poorly understood. Combining bioinformatics with RNA and protein analysis, we identified downregulation of the Wnt/β-catenin pathway in the hippocampus of adult DS individuals with Alzheimer’s disease and the ‘Tc1’ DS mouse model. Providing a potential underlying molecular pathway, we demonstrate that the chromosome 21 kinase DYRK1A regulates Wnt signalling via a novel bimodal mechanism. Under basal conditions, DYRK1A is a negative regulator of Wnt/β-catenin. Following pathway activation, however, DYRK1A exerts the opposite effect, increasing signalling activity. In summary, we identified downregulation of hippocampal Wnt/β-catenin signalling in DS, possibly mediated by a dose dependent effect of the chromosome 21-encoded kinase DYRK1A. Overall, we propose that dosage imbalance of the Hsa21 gene DYRK1A affects downstream Wnt target genes. Therefore, modulation of Wnt signalling may open unexplored avenues for DS and Alzheimer’s disease treatment.
    Keywords Medicine ; R ; Science ; Q
    Subject code 570
    Language English
    Publishing date 2019-05-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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    Inter-library loan at ZB MED

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  4. Article ; Online: Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes

    Eva Lana-Elola / Heather Cater / Sheona Watson-Scales / Simon Greenaway / Jennifer Müller-Winkler / Dorota Gibbins / Mihaela Nemes / Amy Slender / Tertius Hough / Piia Keskivali-Bond / Cheryl L. Scudamore / Eleanor Herbert / Gareth T. Banks / Helene Mobbs / Tara Canonica / Justin Tosh / Suzanna Noy / Miriam Llorian / Patrick M. Nolan /
    Julian L. Griffin / Mark Good / Michelle Simon / Ann-Marie Mallon / Sara Wells / Elizabeth M. C. Fisher / Victor L. J. Tybulewicz

    Disease Models & Mechanisms, Vol 14, Iss

    2021  Volume 10

    Abstract: Down syndrome (DS), trisomy 21, results in many complex phenotypes including cognitive deficits, heart defects and craniofacial alterations. Phenotypes arise from an extra copy of human chromosome 21 (Hsa21) genes. However, these dosage-sensitive ... ...

    Abstract Down syndrome (DS), trisomy 21, results in many complex phenotypes including cognitive deficits, heart defects and craniofacial alterations. Phenotypes arise from an extra copy of human chromosome 21 (Hsa21) genes. However, these dosage-sensitive causative genes remain unknown. Animal models enable identification of genes and pathological mechanisms. The Dp1Tyb mouse model of DS has an extra copy of 63% of Hsa21-orthologous mouse genes. In order to establish whether this model recapitulates DS phenotypes, we comprehensively phenotyped Dp1Tyb mice using 28 tests of different physiological systems and found that 468 out of 1800 parameters were significantly altered. We show that Dp1Tyb mice have wide-ranging DS-like phenotypes, including aberrant erythropoiesis and megakaryopoiesis, reduced bone density, craniofacial changes, altered cardiac function, a pre-diabetic state, and deficits in memory, locomotion, hearing and sleep. Thus, Dp1Tyb mice are an excellent model for investigating complex DS phenotype-genotype relationships for this common disorder.
    Keywords down syndrome ; mouse model ; craniofacial development ; memory ; sleep ; hearing ; diabetes ; haematopoiesis ; Medicine ; R ; Pathology ; RB1-214
    Subject code 572
    Language English
    Publishing date 2021-10-01T00:00:00Z
    Publisher The Company of Biologists
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Inter-library loan at ZB MED

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