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Disease Models & Mechanisms

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The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression
Dan Wu, Sailan Wang, Daniel V. Oliveira, Francesca Del Gaudio, Michael Vanlandewijck, Thibaud Lebouvier, Christer Betsholtz, Jian Zhao, ShaoBo Jin, Urban Lendahl, Helena Karlström

Disease Models & Mechanisms Feb 2021, 14 (2) dmm046300; DOI: 10.1242/dmm.046300
Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency
Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci

Disease Models & Mechanisms Feb 2021, 14 (2) dmm046391; DOI: 10.1242/dmm.046391
Cardiovascular phenotype of the Dmd^mdx rat – a suitable animal model for Duchenne muscular dystrophy
Petra Lujza Szabó, Janine Ebner, Xaver Koenig, Ouafa Hamza, Simon Watzinger, Sandra Trojanek, Dietmar Abraham, Hannes Todt, Helmut Kubista, Klaus Schicker, Séverine Remy, Ignacio Anegon, Attila Kiss, Bruno K. Podesser, Karlheinz Hilber

Disease Models & Mechanisms Feb 2021, 14 (2) dmm047704; DOI: 10.1242/dmm.047704
A muscle growth-promoting treatment based on the attenuation of activin/myostatin signalling 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

Disease Models & Mechanisms Feb 2021, 14 (2) dmm047555; DOI: 10.1242/dmm.047555
Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice
Nicholas G. Tolman, Revathi Balasubramanian, Danilo G. Macalinao, Alison L. Kearney, Katharine H. MacNicoll, Christa L. Montgomery, Wilhelmine N. de Vries, Ian J. Jackson, Sally H. Cross, Krishnakumar Kizhatil, K. Saidas Nair, Simon W. M. John

Disease Models & Mechanisms Feb 2021, 14 (2) dmm046953; DOI: 10.1242/dmm.046953
Accepted Manuscript
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

Disease Models & Mechanisms Jan 2021, dmm.046789; DOI: 10.1242/dmm.046789
Accepted Manuscript
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

Disease Models & Mechanisms Jan 2021, dmm.048355; DOI: 10.1242/dmm.048355
Inducible expression of human C9ORF72 36× G₄C₂ hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice
Fréderike W. Riemslagh, Esmay C. van der Toorn, Rob F. M. Verhagen, Alex Maas, Laurens W. J. Bosman, Renate K. Hukema, Rob Willemsen

Disease Models & Mechanisms Feb 2021, 14 (2) dmm044842; DOI: 10.1242/dmm.044842
Hearing impairment due to Mir183/96/182 mutations suggests both loss-of-function and gain-of-function effects
Morag A. Lewis, Francesca Di Domenico, Neil J. Ingham, Haydn M. Prosser, Karen P. Steel

Disease Models & Mechanisms Feb 2021, 14 (2) dmm047225; DOI: 10.1242/dmm.047225
Accepted Manuscript
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

Disease Models & Mechanisms Jan 2021, dmm.047001; DOI: 10.1242/dmm.047001

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Disease Models & Mechanisms

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