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Subject collection: Rare diseases

  • RESEARCH ARTICLE
    Drosophila melanogaster as a function-based high-throughput screening model for antinephrolithiasis agents in kidney stone patients
    Sohrab N. Ali, Thamara K. Dayarathna, Aymon N. Ali, Tijani Osumah, Mohamed Ahmed, Tyler T. Cooper, Nicholas E. Power, Dongxing Zhang, Dajung Kim, Rachel Kim, Andre St. Amant, Jinqiang Hou, Thomas Tailly, Jun Yang, Len Luyt, Paul A. Spagnuolo, Jeremy P. Burton, Hassan Razvi, Hon S. Leong
    Disease Models & Mechanisms 2018 11: dmm035873 doi: 10.1242/dmm.035873 Published 16 November 2018

    Summary: Chemical library screens using Drosophila melanogaster as a model of nephrolithiasis can be performed in a high-throughput and efficient manner, leading to candidate drugs with clinical potential in kidney stone patients.

  • RESEARCH ARTICLE
    Fetal growth restriction in a genetic model of sporadic Beckwith–Wiedemann syndrome
    Simon J. Tunster, Mathew Van de Pette, Hugo D. J. Creeth, Louis Lefebvre, Rosalind M. John
    Disease Models & Mechanisms 2018 11: dmm035832 doi: 10.1242/dmm.035832 Published 16 November 2018

    Summary: A novel genetic mouse model of sporadic Beckwith–Wiedemann syndrome (BWS) recapitulates placentomegaly, but placental defects lead to late gestation fetal growth restriction, which contrasts with the fetal overgrowth characteristic of BWS in humans.

  • RESEARCH ARTICLE
    Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse
    Kevin K. L. Lee, Emma Peskett, Charlotte M. Quinn, Rosanna Aiello, Liliya Adeeva, Dale A. Moulding, Philip Stanier, Erwin Pauws
    Disease Models & Mechanisms 2018 11: dmm035311 doi: 10.1242/dmm.035311 Published 9 November 2018

    Summary: Increased levels of FGFR2c cause craniofacial bone hypoplasia, microtia and cleft palate, but not craniosynostosis. Introduction of an extra Fgfr2c allele into a mouse model for Crouzon syndrome partially rescues the craniosynostosis phenotype.

  • RESEARCH ARTICLE
    Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans
    Alexander T. Young, Kien N. Ly, Callum Wilson, Klaus Lehnert, Russell G. Snell, Suzanne J. Reid, Jessie C. Jacobsen
    Disease Models & Mechanisms 2018 11: dmm035709 doi: 10.1242/dmm.035709 Published 9 November 2018

    Summary: The first Caenorhabditis elegans model to study brain dopamine-serotonin vesicular transport disease, demonstrating impairment of pharyngeal pumping and grazing phenotypes.

  • RESOURCE ARTICLE
    Generation of mouse-zebrafish hematopoietic tissue chimeric embryos for hematopoiesis and host-pathogen interaction studies
    Margarita Parada-Kusz, Cristina Penaranda, Elliott J. Hagedorn, Anne Clatworthy, Anil V. Nair, Jonathan E. Henninger, Christoph Ernst, Brian Li, Raquel Riquelme, Humberto Jijon, Eduardo J. Villablanca, Leonard I. Zon, Deborah Hung, Miguel L. Allende
    Disease Models & Mechanisms 2018 11: dmm034876 doi: 10.1242/dmm.034876 Published 5 November 2018

    Editor's choice: A new method to xenotransplant murine bone marrow cells into zebrafish blastulae that generates hundreds of transient chimeric animals with functional murine blood progenitor cells and innate immune cells.

  • RESEARCH ARTICLE
    Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele
    Masanori Takahashi, Masaru Tamura, Shigeru Sato, Kiyoshi Kawakami
    Disease Models & Mechanisms 2018 11: dmm034611 doi: 10.1242/dmm.034611 Published 25 October 2018

    Summary: The homeobox genes Six4 and Six5 are involved in the regulation of cell proliferation and mesothelium formation in the primary body wall, and Six4−/−;Six5−/− mice are a suitable animal model for human middle-type omphalocele.

  • RESEARCH ARTICLE
    A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies
    Georgina Askeland, Marie Rodinova, Hana Štufková, Zaneta Dosoudilova, Monika Baxa, Petra Smatlikova, Bozena Bohuslavova, Jiri Klempir, The Duong Nguyen, Anna Kuśnierczyk, Magnar Bjørås, Arne Klungland, Hana Hansikova, Zdenka Ellederova, Lars Eide
    Disease Models & Mechanisms 2018 11: dmm035949 doi: 10.1242/dmm.035949 Published 24 October 2018

    Summary: Here, we show that a minipig model of Huntington's disease mimics human neurodegeneration and holds promise for future intervention studies. However, minipig peripheral blood mononuclear cells express no detectable mutant huntingtin, eliminating their use as monitoring tools.

  • RESEARCH ARTICLE
    CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
    Annekatrien Boel, Hanna De Saffel, Wouter Steyaert, Bert Callewaert, Anne De Paepe, Paul J. Coucke, Andy Willaert
    Disease Models & Mechanisms 2018 11: dmm035352 doi: 10.1242/dmm.035352 Published 18 October 2018

    Summary: NGS-based analysis reveals that CRISPR/Cas9-induced double-strand-break repair using single-stranded repair templates is error prone in zebrafish, resulting in complex patterns of integrated repair-template fragments.

  • RESEARCH ARTICLE
    Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders
    Federico Tessadori, Helen I. Roessler, Sanne M. C. Savelberg, Sonja Chocron, Sarah M. Kamel, Karen J. Duran, Mieke M. van Haelst, Gijs van Haaften, Jeroen Bakkers
    Disease Models & Mechanisms 2018 11: dmm035469 doi: 10.1242/dmm.035469 Published 18 October 2018

    Summary: By using a single-stranded DNA oligonucleotide template in combination with CRISPR/Cas9 in zebrafish, the authors achieved effective germline-transmissible introduction of patient-specific single-nucleotide changes related to cardiovascular disease.

  • RESEARCH ARTICLE
    ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy
    Tayeba Khan, Kerstin W. Sinkevicius, Sylvia Vong, Arlen Avakian, Markley C. Leavitt, Hunter Malanson, Andre Marozsan, Kim L. Askew
    Disease Models & Mechanisms 2018 11: dmm035691 doi: 10.1242/dmm.035691 Published 8 October 2018

    Summary: ENPP1 enzyme replacement therapy can have important implications for generalized arterial calcification of infancy by treating both vascular calcification and hypertension, which are the leading causes of cardiac failure and mortality in patients.

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