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  Open access

November, 2016; 9 (11)

EDITORIAL

  • Open Access
    Drug screening using model systems: some basics
    Ross Cagan
    Disease Models & Mechanisms 2016 9: 1241-1244; doi: 10.1242/dmm.028159

    Summary: The author provides some tips on what to consider before you begin drug screening.

REVIEW

  • Open Access
    Preclinical models for obesity research
    Perry Barrett, Julian G. Mercer, Peter J. Morgan
    Disease Models & Mechanisms 2016 9: 1245-1255; doi: 10.1242/dmm.026443

    Summary: We review genetic models of obesity, their optogenetic and chemogenetic successors, and the use of dietary manipulations and meal-feeding regimes.

RESEARCH ARTICLES

  • Open Access
    Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3
    Mary P. Colasanto, Shai Eyal, Payam Mohassel, Michael Bamshad, Carsten G. Bonnemann, Elazar Zelzer, Anne M. Moon, Gabrielle Kardon
    Disease Models & Mechanisms 2016 9: 1257-1269; doi: 10.1242/dmm.025874

    Summary: The ulnar-mammary syndrome (UMS) gene, Tbx3, is required for development of posterior forelimb bones, muscles and their attachment sites. This broadens the UMS phenotype and suggests a new muscle-specification model.

  • Open Access
    Insulin receptor isoform A ameliorates long-term glucose intolerance in diabetic mice
    Sabela Diaz-Castroverde, Almudena Gómez-Hernández, Silvia Fernández, Gema García-Gómez, Marianna Di Scala, Gloria González-Aseguinolaza, Elisa Fernández-Millán, Águeda González-Rodríguez, María García-Bravo, Pierre Chambon, Carmen Álvarez, Liliana Perdomo, Nuria Beneit, Oscar Escribano, Manuel Benito
    Disease Models & Mechanisms 2016 9: 1271-1281; doi: 10.1242/dmm.025288

    Summary: The specific hepatic expression of insulin receptor isoform A, but not isoform B, is able to revert, in the long term, the global glucose intolerance observed in diabetic mice.

  • Open Access
    Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4
    Karl-F. Bergeron, Chloé M. A. Nguyen, Tatiana Cardinal, Baptiste Charrier, David W. Silversides, Nicolas Pilon
    Disease Models & Mechanisms 2016 9: 1283-1293; doi: 10.1242/dmm.026773

    Summary: A forward genetic screen approach unveils a new mechanism, involving Nr2f1 and/or A830082K12Rik overexpression in neural crest cells, that could promote development of Waardenburg syndrome and Hirschsprung disease.

  • Open Access
    Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity
    Sarah J. Annesley, Sui T. Lay, Shawn W. De Piazza, Oana Sanislav, Eleanor Hammersley, Claire Y. Allan, Lisa M. Francione, Minh Q. Bui, Zhi-Ping Chen, Kevin R. W. Ngoei, Flora Tassone, Bruce E. Kemp, Elsdon Storey, Andrew Evans, Danuta Z. Loesch, Paul R. Fisher
    Disease Models & Mechanisms 2016 9: 1295-1305; doi: 10.1242/dmm.025684

    Editors' choice: Cultured Parkinson's disease lymphocytes are metabolically hyperactive, suggesting a new understanding of the underlying cytopathology and biomarkers for this and potentially other neurodegenerative diseases.

  • Open Access
    Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model
    Galen W. Heyne, Joshua L. Everson, Lydia J. Ansen-Wilson, Cal G. Melberg, Dustin M. Fink, Kia F. Parins, Padydeh Doroodchi, Caden M. Ulschmid, Robert J. Lipinski
    Disease Models & Mechanisms 2016 9: 1307-1315; doi: 10.1242/dmm.026328

    Summary: This work illustrates how a specific genetic predisposition in combination with exposure to an environmental factor can result in a severe birth defect, providing a new opportunity to develop prevention strategies.

  • Open Access
    Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model
    Carolina Uggenti, Kit Briant, Anne-Kathrin Streit, Steven Thomson, Yee Hui Koay, Richard A. Baines, Eileithyia Swanton, Forbes D. Manson
    Disease Models & Mechanisms 2016 9: 1317-1328; doi: 10.1242/dmm.024216

    Summary: Chemical chaperone 4PBA fully restores Cl− conductance activity for mutant bestrophin-1 proteins associated with inherited retinal dystrophy, autosomal recessive bestrophinopathy.

  • Open Access
    Cartilage damage and bone erosion are more prominent determinants of functional impairment in longstanding experimental arthritis than synovial inflammation
    Silvia Hayer, Gregor Bauer, Martin Willburger, Katharina Sinn, Farideh Alasti, Roberto Plasenzotti, Tetyana Shvets, Birgit Niederreiter, Constantin Aschauer, Guenter Steiner, Bruno K. Podesser, Josef S. Smolen, Kurt Redlich
    Disease Models & Mechanisms 2016 9: 1329-1338; doi: 10.1242/dmm.025460

    Summary: Gait-profile assessment is an objective quantitative measurement to monitor functional impairment in arthritis models. Longstanding functional impairment correlates with inflammation-driven structural damage.

  • Open Access
    Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish
    David Zada, Adi Tovin, Tali Lerer-Goldshtein, Lior Appelbaum
    Disease Models & Mechanisms 2016 9: 1339-1348; doi: 10.1242/dmm.027227

    Summary: Expression of thyroid transporter specifically in the blood–brain barrier of zebrafish, and pharmacological treatments with thyroid hormone analogs and clemastine, rescue myelin deficiencies.

  • Open Access
    HSV presence in brains of individuals without dementia: the TASTY brain series
    Jan Olsson, Hugo Lövheim, Emma Honkala, Pekka J. Karhunen, Fredrik Elgh, Eloise H. Kok
    Disease Models & Mechanisms 2016 9: 1349-1355; doi: 10.1242/dmm.026674

    Summary: We assessed the presence of HSV types 1 and 2 in the brain tissue of a large non-institutionalised autopsy cohort, providing evidence of asymptomatic access of HSV to the brain.

  • Open Access
    Photoperiod induced obesity in the Brandt's vole (Lasiopodomys brandtii): a model of ‘healthy obesity’?
    Xin-Yu Liu, Deng-Bao Yang, Yan-Chao Xu, Marianne O. L. Gronning, Fang Zhang, De-Hua Wang, John R. Speakman
    Disease Models & Mechanisms 2016 9: 1357-1366; doi: 10.1242/dmm.026070

    Summary: Obesity induced by long-day photoperiod in voles is not accompanied by impaired glucose tolerance or insulin sensitivity and might be a useful model of ‘healthy obesity’.

  • Open Access
    Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice
    Insa Bultmann-Mellin, Jeroen Essers, Paula M. van Heijingen, Harald von Melchner, Gerhard Sengle, Anja Sterner-Kock
    Disease Models & Mechanisms 2016 9: 1367-1374; doi: 10.1242/dmm.026005

    Summary: The interaction of the long form of latent-transforming growth factor beta-binding protein 4 and fibulin-4 is essential for survival as well as for the formation of elastic fibers.

  • Open Access
    Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation
    Jennifer M. I. Daenzer, Patricia P. Jumbo-Lucioni, Marquise L. Hopson, Kerry R. Garza, Emily L. Ryan, Judith L. Fridovich-Keil
    Disease Models & Mechanisms 2016 9: 1375-1382; doi: 10.1242/dmm.022988

    Summary: In a GALT-deficient Drosophila model of classic galactosemia, Gal-1P accumulation is not required for compromised larval survival following galactose exposure or adult movement and fecundity phenotypes.

  • Open Access
    Inhibition of vascular endothelial growth factor signaling facilitates liver repair from acute ethanol-induced injury in zebrafish
    Changwen Zhang, Jillian L. Ellis, Chunyue Yin
    Disease Models & Mechanisms 2016 9: 1383-1396; doi: 10.1242/dmm.024950

    Summary: Inhibition of VEGF signaling enhances recovery from acute ethanol-induced injury in the livers of zebrafish larvae, by directly suppressing fibrogenesis and angiogenesis, and indirectly ameliorating hepatic steatosis.

RESOURCE ARTICLES

  • Open Access
    High- and ultrahigh-field magnetic resonance imaging of naïve, injured and scarred vocal fold mucosae in rats
    Ayami Ohno Kishimoto, Yo Kishimoto, David L. Young, Jinjin Zhang, Ian J. Rowland, Nathan V. Welham
    Disease Models & Mechanisms 2016 9: 1397-1403; doi: 10.1242/dmm.026526

    Summary: Magnetic resonance imaging is shown to allow the nondestructive assessment of acute injury and scar formation in vocal fold mucosa, as demonstrated ex vivo using a preclinical rat model.

  • Open Access
    An in vitro model of murine middle ear epithelium
    Apoorva Mulay, Khondoker M. Akram, Debbie Williams, Hannah Armes, Catherine Russell, Derek Hood, Stuart Armstrong, James P. Stewart, Steve D. M. Brown, Lynne Bingle, Colin D. Bingle
    Disease Models & Mechanisms 2016 9: 1405-1417; doi: 10.1242/dmm.026658

    Summary: Development and systematic characterisation of an in vitro otopathogenic infection model of the murine middle ear epithelium as a tool to better understand the complex pathophysiology of Otitis media.

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  • Open Access

    Modelling epilepsy in the mouse: challenges and solutions

    Grant F. Marshall, Alfredo Gonzalez-Sulser, Catherine M. Abbott
    PDF
  • Open Access

    EZH2 is required for parathyroid and thymic development through differentiation of the third pharyngeal pouch endoderm

    Cinzia Caprio, Gabriella Lania, Marchesa Bilio, Rosa Ferrentino, Li Chen, Antonio Baldini
    PDF
  • Open Access

    High-dose vitamin B1 therapy prevents the development of experimental fatty liver driven by overnutrition

    Mugagga Kalyesubula, Ramgopal Mopuri, Jimmy Asiku, Alexander Rosov, Sara Yosefi, Nir Edery, Samuel Bocobza, Uzi Moallem, Hay Dvir
    PDF
  • Open Access

    Transformed notochordal cells trigger chronic wounds destabilizing the vertebral column and bone homeostasis

    Paco López-Cuevas, Luke Deane, Yushi Yang, Chrissy L Hammond, Erika Kague
    PDF
  • Open Access

    Multiscale molecular profiling of pathological bone resolves sexually dimorphic control of extracellular matrix composition

    Aikta Sharma, Alice Goring, Peter B. Johnson, Roger J. H. Emery, Eric Hesse, Alan Boyde, Bjorn R. Olsen, Andrew A. Pitsillides, Richard O. C. Oreffo, Sumeet Mahajan, Claire E. Clarkin
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Monica Justice bids farewell to DMM

In her farewell Editorial, outgoing Editor-in-Chief Monica Justice reminds us of the past half-decade of growth and of DMM's commitment to support the disease modelling community, concluding, “The knowledge and experience I gained during my time as Senior Editor and EiC at DMM is invaluable: working within a not-for-profit community publishing environment is a joy.”


3D imaging of beta cell mass in diabetic mouse models

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Modelling Joubert syndrome patient-derived mutations in C. elegans

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Interview – Karen Lange

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