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Subject collection: Developmental Disorders

  • CORRECTION
    Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
    Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Saima Ali, Heymut Omran, Rolf W. Stottmann
    Disease Models & Mechanisms 2021 14: dmm048645 doi: 10.1242/dmm.048645 Published 11 January 2021
  • RESEARCH ARTICLE
    Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans
    Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque
    Disease Models & Mechanisms 2020 : dmm.046631 doi: 10.1242/dmm.046631 Published 4 January 2021
  • RESEARCH ARTICLE
    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.

  • REVIEW
    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 ARTICLE
    Restoration of motor learning in a mouse model of Rett syndrome following long-term treatment with a novel small-molecule activator of TrkB
    Ian Adams, Tao Yang, Frank M. Longo, David M. Katz
    Disease Models & Mechanisms 2020 13: dmm044685 doi: 10.1242/dmm.044685 Published 27 November 2020

    Editor's choice: Long-term intermittent treatment with a newly developed partial agonist of the TrkB neurotrophin receptor reverses deficits in motor learning and respiration in a mouse model of Rett syndrome.

  • RESEARCH ARTICLE
    L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1
    Alaa Koleilat, Joseph A. Dugdale, Trace A. Christenson, Jeffrey L. Bellah, Aaron M. Lambert, Mark A. Masino, Stephen C. Ekker, Lisa A. Schimmenti
    Disease Models & Mechanisms 2020 13: dmm043885 doi: 10.1242/dmm.043885 Published 27 November 2020

    Summary: We quantified behavioral and synaptic morphology differences between wild-type zebrafish larvae and the mariner (myo7aa−/−) mutant, finding that these differences can be modified by L-type voltage-gated calcium channel agonists.

  • RESEARCH ARTICLE
    Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of ATRIP-Seckel syndrome
    Gabriel E. Matos-Rodrigues, Pedro B. Tan, Maurício Rocha-Martins, Clara F. Charlier, Anielle L. Gomes, Felipe Cabral-Miranda, Paulius Grigaravicius, Thomas G. Hofmann, Pierre-Olivier Frappart, Rodrigo A. P. Martins
    Disease Models & Mechanisms 2020 13: dmm045807 doi: 10.1242/dmm.045807 Published 30 October 2020

    Summary: Retinopathies have been reported in primordial dwarfism syndromes. We show that the loss of Atrip, a gene mutated in Seckel syndrome, causes photoreceptor degeneration owing to p53-dependent apoptosis of retinal progenitors during development.

  • RESEARCH ARTICLE
    A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
    Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Saima Ali, Heymut Omran, Rolf W. Stottmann
    Disease Models & Mechanisms 2020 13: dmm045344 doi: 10.1242/dmm.045344 Published 30 October 2020

    Summary: The Spag17pcdo mouse model closely recapitulates the human central pair primary ciliary dyskinesia condition, and the data here reinforce the power of the hypomorphic allele in representing human conditions.

  • RESEARCH ARTICLE
    Disturbed nitric oxide signalling gives rise to congenital bicuspid aortic valve and aortopathy
    Joshua C. Peterson, Lambertus J. Wisse, Valerie Wirokromo, Tessa van Herwaarden, Anke M. Smits, Adriana C. Gittenberger-de Groot, Marie-José T. H. Goumans, J. Conny VanMunsteren, Monique R. M. Jongbloed, Marco C. DeRuiter
    Disease Models & Mechanisms 2020 13: dmm044990 doi: 10.1242/dmm.044990 Published 28 September 2020

    Summary: Nitric oxide defects link bicuspid aortic valve formation and aortopathy through inhibition of elastic fibre formation in vascular smooth muscle cells within the ascending aorta of Nos3−/− mice.

  • RESEARCH ARTICLE
    Longitudinal neuroanatomical and behavioral analyses show phenotypic drift and variability in the Ts65Dn mouse model of Down syndrome
    Patricia R. Shaw, Jenny A. Klein, Nadine M. Aziz, Tarik F. Haydar
    Disease Models & Mechanisms 2020 13: dmm046243 doi: 10.1242/dmm.046243 Published 25 September 2020

    Summary: Comparative analyses of temporal cohorts of the Ts65Dn mouse model of Down syndrome reveal phenotypic variability affecting neurodevelopment and learning and memory behaviors, calling into question the validity of this model.

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