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  Open access

December, 2020; 13 (12)

EDITORIAL

  • Open Access
    Disease Models & Mechanisms announces a new Editor-in-Chief
    Paresh Vyas (Director of The Company of Biologists, lead DMM Advisory Group)
    Disease Models & Mechanisms 2020 13: dmm048652 doi: 10.1242/dmm.048652 Published 22 December 2020

REVIEWS

  • Open Access
    Of numbers and movement – understanding transcription factor pathogenesis by advanced microscopy
    Julia M. T. Auer, Jack J. Stoddart, Ioannis Christodoulou, Ana Lima, Kassiani Skouloudaki, Hildegard N. Hall, Vladana Vukojević, Dimitrios K. Papadopoulos
    Disease Models & Mechanisms 2020 13: dmm046516 doi: 10.1242/dmm.046516 Published 29 December 2020

    Summary: Abundance and chromatin interactions determine transcription factor function; their disruption can impair development and cause disease. We survey advanced microscopy methodologies that measure these properties and discuss molecular mechanisms that underlie transcription factor haploinsufficiency.

  • Open Access
    Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease
    Masafumi Noguchi, Kana T. Furukawa, Mitsuru Morimoto
    Disease Models & Mechanisms 2020 13: dmm046920 doi: 10.1242/dmm.046920 Published 21 December 2020

    Summary: This Review highlights the physiological relevance of pulmonary neuroendocrine cells, rare airway epithelial cells that form intrapulmonary sensory organs, abnormalities of which are associated with several pulmonary disorders, such as asthma and lung cancer.

RESEARCH ARTICLES

  • Open Access
    Impaired muscle morphology in a Drosophila model of myosin storage myopathy was suppressed by overexpression of an E3 ubiquitin ligase
    Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, Michaela Norum, Katarina Ejeskär, Homa Tajsharghi
    Disease Models & Mechanisms 2020 13: dmm047886 doi: 10.1242/dmm.047886 Published 29 December 2020

    Summary:

    Exploration of the phenotypes associated with the MYH7 R1845W mutation in skeletal muscles, and an alleviating mechanism of the pathological phenotype, suggesting E3-ligase modifier gene activity potentially affects the impact of the mutation.

  • Open Access
    Alcoholic hepatitis and metabolic disturbance in female mice: a more tractable model than Nrf2−/− animals
    Lozan Sheriff, Reenam S. Khan, Raquel Saborano, Richard Wilkin, Nguyet-Thin Luu, Ulrich L. Gunther, Stefan G. Hubscher, Philip N. Newsome, Patricia F. Lalor
    Disease Models & Mechanisms 2020 13: dmm046383 doi: 10.1242/dmm.046383 Published 29 December 2020

    Summary: We describe a simple murine model of alcoholic hepatitis (AH) to induce injury that recreates many of the key features of AH in human, without the need of challenging surgical procedures to administer ethanol. This will be valuable for testing new therapeutic treatments.

  • Open Access
    Predicting experimental success: a retrospective case-control study using the rat intraluminal thread model of stroke
    Lisa Liebenstund, Mark Coburn, Christina Fitzner, Antje Willuweit, Karl-Josef Langen, Jingjin Liu, Michael Veldeman, Anke Höllig
    Disease Models & Mechanisms 2020 13: dmm044651 doi: 10.1242/dmm.044651 Published 29 December 2020

    Summary: An assessment of the importance of peri-interventional monitoring to verify a successful experimental performance in order to ensure a disease model that is as homogeneous as possible.

  • Open Access
    Deletion of Yy1 in mouse lung epithelium unveils molecular mechanisms governing pleuropulmonary blastoma pathogenesis
    Kim Landry-Truchon, Nicolas Houde, Mickaël Lhuillier, Louis Charron, Alice Hadchouel, Christophe Delacourt, William D. Foulkes, Louise Galmiche-Rolland, Lucie Jeannotte
    Disease Models & Mechanisms 2020 13: dmm045989 doi: 10.1242/dmm.045989 Published 29 December 2020

    Summary: YY1 contributes to pleuropulmonary blastoma pathogenesis as a downstream target of abnormal epithelial DICER1-cleaved miRNA profile and as a transcriptional regulator of key players of lung development.

  • Open Access
    Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditis elegans model of spinal muscular atrophy
    James J. Doyle, Celine Vrancx, Claudia Maios, Audrey Labarre, Shunmoogum A. Patten, J. Alex Parker
    Disease Models & Mechanisms 2020 13: dmm041350 doi: 10.1242/dmm.041350 Published 22 December 2020

    Summary: A new non-larval-lethal C. elegans model of spinal muscular atrophy shows mild phenotypes, such as muscle cell and neuronal degeneration, and is therefore useful for testing potential drug treatments.

  • Open Access
    3D quantification of changes in pancreatic islets in mouse models of diabetes type I and II
    Urmas Roostalu, Jacob Lercke Skytte, Casper Gravesen Salinas, Thomas Klein, Niels Vrang, Jacob Jelsing, Jacob Hecksher-Sørensen
    Disease Models & Mechanisms 2020 13: dmm045351 doi: 10.1242/dmm.045351 Published 18 December 2020

    Summary: We report a 3D quantitative imaging platform (using light-sheet fluorescence microscopy) that can reveal changes in beta cell volume and proliferation, and leukocyte infiltration in pancreata in mouse models of diabetes.

  • Open Access
    Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart
    Emilie Auxerre-Plantié, Tanja Nielsen, Marcel Grunert, Olga Olejniczak, Andreas Perrot, Cemil Özcelik, Dennis Harries, Faramarz Matinmehr, Cristobal Dos Remedios, Christian Mühlfeld, Theresia Kraft, Rolf Bodmer, Georg Vogler, Silke R. Sperling
    Disease Models & Mechanisms 2020 13: dmm045377 doi: 10.1242/dmm.045377 Published 18 December 2020

    Editor's choice: MYOM2 plays a critical role in establishing or maintaining robust heart function, and is a candidate gene for heart diseases, such as hypertrophic cardiomyopathy and Tetralogy of Fallot.

  • Open Access
    Myh6-driven Cre recombinase activates the DNA damage response and the cell cycle in the myocardium in the absence of loxP sites
    Xinrui Wang, Amelia Lauth, Tina C. Wan, John W. Lough, John A. Auchampach
    Disease Models & Mechanisms 2020 13: dmm046375 doi: 10.1242/dmm.046375 Published 18 December 2020

    Summary: The presence of tamoxifen-induced Cre recombinase (merCremer) in the nucleus of cardiomyocytes induces DNA damage and unscheduled cell-cycle activation, indicating the requirement for appropriate controls when using Cre-loxP models for cardiac regeneration studies.

FIRST PERSON

  • Open Access
    First person – Lozan Sheriff and Reenam Kahn
    Disease Models & Mechanisms 2020 13: dmm048009 doi: 10.1242/dmm.048009 Published 29 December 2020
  • Open Access
    First person – Kim Landry-Truchon and Nicolas Houde
    Disease Models & Mechanisms 2020 13: dmm048199 doi: 10.1242/dmm.048199 Published 29 December 2020
  • Open Access
    First person – Xinrui Wang
    Disease Models & Mechanisms 2020 13: dmm047829 doi: 10.1242/dmm.047829 Published 21 December 2020
  • Open Access
    First person – Emilie Auxerre-Plantié and Tanja Nielsen
    Disease Models & Mechanisms 2020 13: dmm047902 doi: 10.1242/dmm.047902 Published 21 December 2020
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  • Open Access

    Neural crest-specific deletion of Bmp7 leads to midfacial hypoplasia, nasal airway obstruction, and disordered breathing modelling Obstructive Sleep Apnea

    Pranidhi Baddam, Vivian Biancardi, Daniela M. Roth, Farah Eaton, Claudine Thereza-Bussolaro, Rupasri Mandal, David S. Wishart, Amy Barr, Joanna MacLean, Carlos Flores-Mir, Silvia Pagliardini, Daniel Graf
    PDF
  • Open Access

    Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

    F. W. Riemslagh, E. C. van der Toorn, R. F. M. Verhagen, A. Maas, L. W. J. Bosman, R. K. Hukema, R. Willemsen
    PDF
  • Open Access

    A muscle growth promoting treatment based on the attenuation of activin/myostatin signalling in young mice results in long-term testicular abnormalities

    Danielle Vaughan, Robert Mitchell, Oliver Kretz, David Chambers, Maciej Lalowski, Helge Amthor, Olli Ritvos, Arja Pasternack, Antonios Matsakas, Sakthivel Vaiyapuri, Tobias B. Huber, Bernd Denecke, Abir Mukherjee, Darius Widera, Ketan Patel
    PDF
  • Open Access

    TDP-43 mislocalization drives neurofilament changes in a novel model of TDP-43 proteinopathy

    Rachel Atkinson, Jacqueline Leung, James Bender, Matthew Kirkcaldie, James Vickers, Anna King
    PDF
  • Open Access

    Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans

    Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque
    PDF
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DMM and COVID-19

We are aware that the COVID-19 pandemic is having an unprecedented impact on researchers worldwide. The Editors of all The Company of Biologists’ journals have been considering ways in which we can alleviate concerns that members of our community may have around publishing activities during this time. Read about the actions we are taking at this time.

Please don’t hesitate to contact the Editorial Office if you have any questions or concerns.


Professor Elizabeth Patton appointed as DMM’s next Editor-in-Chief

We are pleased to announce that The Company of Biologists directors have appointed Professor Elizabeth Patton as DMM's new Editor-in-Chief. As Paresh Vyas writes in his Editorial, Liz ‘brings vitality and a passion for the remit of DMM, and is deeply embedded in the community.’


Did you know DMM Conference Travel Grants can be used for online meetings?

With travel restrictions still in place, we want to continue supporting early-career researchers in their careers. DMM’s Conference Travel Grants can now be used to attend virtual and online scientific meetings, workshops, conferences and training courses.

The current application round closes on 8 February 2021 – find out more.


Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

Research from Silke Sperling and colleagues uses Drosophila to identify MYOM2 as a candidate gene in congenital heart malformations in this issue’s Editor’s choice.


C. elegans as a disease model

A new Research article from Doyle et al., models spinal muscular atrophy in C. elegans to show that that targeting therapies to muscle cells is more effective than neuronal delivery. Find more research using C. elegans as a disease model in our latest subject collection.


Call for papers – The RAS Pathway: Diseases, Therapeutics and Beyond

Our upcoming special issue is now welcoming submissions until 1 April 2021. Guest-edited by Donita Brady (Perelman School of Medicine at the University of Pennsylvania, USA) and Arvin Dar (Icahn School of Medicine at Mount Sinai, USA), the issue will focus on the targeting the RAS pathway. Find out more about the issue and how to submit your manuscript.


Interview – Kim Landry-Truchon and Nicolas Houde

In an interview, first authors Kim Landry-Truchon and Nicolas Houde discuss their mouse model of the early stages of pleuropulmonary blastoma, reflecting on the implications of their work and the future of their field.

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