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  Open access

December, 2018; 11 (12)

A MODEL FOR LIFE

  • Open Access
    Rocking the world of innate immunity: an interview with Luke O'Neill
    Luke A. J. O'Neill
    Disease Models & Mechanisms 2018 11: dmm037838 doi: 10.1242/dmm.037838 Published 29 November 2018

FIRST PERSON

  • Open Access
    First person – Brian Belyea
    Disease Models & Mechanisms 2018 11: dmm038463 doi: 10.1242/dmm.038463 Published 18 December 2018
  • Open Access
    First person – Amy Findlay
    Disease Models & Mechanisms 2018 11: dmm038265 doi: 10.1242/dmm.038265 Published 18 December 2018
  • Open Access
    First person – Phillipe O'Brien
    Disease Models & Mechanisms 2018 11: dmm038323 doi: 10.1242/dmm.038323 Published 18 December 2018
  • Open Access
    First person – Bao-Luen Chang
    Disease Models & Mechanisms 2018 11: dmm038182 doi: 10.1242/dmm.038182 Published 14 December 2018
  • Open Access
    First person – Maria Replogle
    Disease Models & Mechanisms 2018 11: dmm038117 doi: 10.1242/dmm.038117 Published 12 December 2018
  • Open Access
    First person – Jennifer Hewitt
    Disease Models & Mechanisms 2018 11: dmm038091 doi: 10.1242/dmm.038091 Published 4 December 2018
  • Open Access
    First person – Matthew T. Pereira
    Disease Models & Mechanisms 2018 11: dmm037689 doi: 10.1242/dmm.037689 Published 28 November 2018

REVIEWS

  • Open Access
    The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy
    Alec R. Nickolls, Carsten G. Bönnemann
    Disease Models & Mechanisms 2018 11: dmm035931 doi: 10.1242/dmm.035931 Published 19 December 2018

    Summary: Dystroglycan is a ubiquitous matrix receptor linked to brain and muscle disease. Unraveling the functions of this protein will inform basic and translational research on neural development and muscular dystrophies.

  • Open Access
    Hypoxia and connectivity in the developing vertebrate nervous system
    Joshua L. Bonkowsky, Jong-Hyun Son
    Disease Models & Mechanisms 2018 11: dmm037127 doi: 10.1242/dmm.037127 Published 12 December 2018

    Summary: The nervous system's exposure to hypoxia has developmental and clinical relevance. In this Review, the authors discuss the effects of hypoxia on the development of the CNS, and its long-term behavioral and neurodevelopmental consequences.

RESEARCH ARTICLES

  • Open Access
    A viable hypomorphic Arnt2 mutation causes hyperphagic obesity, diabetes and hepatic steatosis
    Emre E. Turer, Miguel San Miguel, Kuan-wen Wang, William McAlpine, Feiya Ou, Xiaohong Li, Miao Tang, Zhao Zang, Jianhui Wang, Braden Hayse, Bret Evers, Xiaoming Zhan, Jamie Russell, Bruce Beutler
    Disease Models & Mechanisms 2018 11: dmm035451 doi: 10.1242/dmm.035451 Published 18 December 2018

    Summary: A forward genetic approach identified genes involved in maintaining normal body weight. A mutation in Arnt2 caused obesity by regulating food intake.

  • Open Access
    Dietary advanced glycation end-product consumption leads to mechanical stiffening of murine intervertebral discs
    Divya Krishnamoorthy, Robert C. Hoy, Devorah M. Natelson, Olivia M. Torre, Damien M. Laudier, James C. Iatridis, Svenja Illien-Jünger
    Disease Models & Mechanisms 2018 11: dmm036012 doi: 10.1242/dmm.036012 Published 18 December 2018

    Summary: Dietary AGEs lead to sex-specific intervertebral disc structural and functional changes and may be targeted for promoting spinal health, especially in diabetes, in which AGEs form rapidly.

  • Open Access
    Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function
    Amy S. Findlay, Roderick N. Carter, Becky Starbuck, Lisa McKie, Klára Nováková, Peter S. Budd, Margaret A. Keighren, Joseph A. Marsh, Sally H. Cross, Michelle M. Simon, Paul K. Potter, Nicholas M. Morton, Ian J. Jackson
    Disease Models & Mechanisms 2018 11: dmm036426 doi: 10.1242/dmm.036426 Published 18 December 2018

    Summary: Here, we show that partial loss-of-function mutations in the Idh3a gene lead to retinal degeneration due to compromised mitochondrial function. Complete loss of Idh3a, however, is embryonically lethal.

  • Open Access
    Leukemia development initiated by deletion of RBP-J: mouse strain, deletion efficiency and cell of origin
    Brian Chipman Belyea, Fang Xu, Maria Luisa Soledad Sequeira-Lopez, Roberto Ariel Gomez
    Disease Models & Mechanisms 2018 11: dmm036731 doi: 10.1242/dmm.036731 Published 18 December 2018

    Summary: Using a mouse model of precursor B-cell leukemia, we have investigated influencing factors on leukemia genesis, including genetic background, cell of origin and deletion efficiency.

  • Open Access
    Semiology, clustering, periodicity and natural history of seizures in an experimental occipital cortical epilepsy model
    Bao-Luen Chang, Marco Leite, Albert Snowball, Andreas Lieb, Elodie Chabrol, Matthew C. Walker, Dimitri M. Kullmann, Stephanie Schorge, Robert C. Wykes
    Disease Models & Mechanisms 2018 11: dmm036194 doi: 10.1242/dmm.036194 Published 14 December 2018

    Summary: Tetanus-toxin-induced occipital cortical epilepsy is a rodent model of acquired focal neocortical epilepsy well-suited for preclinical evaluation of novel anti-epileptic strategies.

  • Open Access
    Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms
    Quynh V. Ton, Daniel Leino, Sarah A. Mowery, Nina O. Bredemeier, Pascal J. Lafontant, Allison Lubert, Suman Gurung, Janice L. Farlow, Tatiana M. Foroud, Joseph Broderick, Saulius Sumanas
    Disease Models & Mechanisms 2018 11: dmm033654 doi: 10.1242/dmm.033654 Published 12 December 2018

    Summary: Collagen COL22A1 is expressed in perivascular fibroblast-like cells and is required to maintain vascular stability in a zebrafish model. Mutations in COL22A1 are likely to be associated with intracranial aneurysms.

  • Open Access
    Muscle strength deficiency and mitochondrial dysfunction in a muscular dystrophy model of Caenorhabditis elegans and its functional response to drugs
    Jennifer E. Hewitt, Amelia K. Pollard, Leila Lesanpezeshki, Colleen S. Deane, Christopher J. Gaffney, Timothy Etheridge, Nathaniel J. Szewczyk, Siva A. Vanapalli
    Disease Models & Mechanisms 2018 11: dmm036137 doi: 10.1242/dmm.036137 Published 4 December 2018

    Editor's choice: Dystrophin-deficient Caenorhabditis elegans have measurably weak muscle strength and mitochondrial dysfunction, and they respond to drug treatments standard in treating human Duchenne muscular dystrophy.

  • Open Access
    Macrophages enhance Vegfa-driven angiogenesis in an embryonic zebrafish tumour xenograft model
    Denver D. Britto, Barbara Wyroba, Wenxuan Chen, Rhoswen A. Lockwood, Khanh B. Tran, Peter R. Shepherd, Christopher J. Hall, Kathryn E. Crosier, Philip S. Crosier, Jonathan W. Astin
    Disease Models & Mechanisms 2018 11: dmm035998 doi: 10.1242/dmm.035998 Published 29 November 2018

    Summary: Zebrafish embryonic macrophages associate with the distal tips of tumour xenograft blood vessels and are required for Vegfa-driven angiogenesis.

  • Open Access
    Effect of dietary additives on intestinal permeability in both Drosophila and a human cell co-culture
    Matthew T. Pereira, Mridu Malik, Jillian A. Nostro, Gretchen J. Mahler, Laura Palanker Musselman
    Disease Models & Mechanisms 2018 11: dmm034520 doi: 10.1242/dmm.034520 Published 28 November 2018

    Summary: Sugar and other food additives can inhibit gut barrier function in both human cell co-cultures and Drosophila melanogaster.

RESOURCE ARTICLES

  • Open Access
    Juvenile murine models of prediabetes and type 2 diabetes develop neuropathy
    Phillipe D. O'Brien, Lucy M. Hinder, Amy E. Rumora, John M. Hayes, Jacqueline R. Dauch, Carey Backus, Faye E. Mendelson, Eva L. Feldman
    Disease Models & Mechanisms 2018 11: dmm037374 doi: 10.1242/dmm.037374 Published 18 December 2018

    Summary: The mouse models described in this paper provide critical tools to better understand the underlying pathogenesis of prediabetic and diabetic neuropathy from youth to adulthood.

  • Open Access
    Identifying mouse developmental essential genes using machine learning
    David Tian, Stephanie Wenlock, Mitra Kabir, George Tzotzos, Andrew J. Doig, Kathryn E. Hentges
    Disease Models & Mechanisms 2018 11: dmm034546 doi: 10.1242/dmm.034546 Published 13 December 2018

    Summary: Here, we used computer-based machine learning methodology to predict which genes in the mouse genome are essential for development, and present a database of mouse essential and non-essential genes.

  • Open Access
    Establishment of a murine culture system for modeling the temporal progression of cranial and trunk neural crest cell differentiation
    Maria R. Replogle, Virinchipuram S. Sreevidya, Vivian M. Lee, Michael D. Laiosa, Kurt R. Svoboda, Ava J. Udvadia
    Disease Models & Mechanisms 2018 11: dmm035097 doi: 10.1242/dmm.035097 Published 12 December 2018

    Summary: A novel method for isolating and expanding primary neural crest cells, and establishment of reproducible temporal benchmarks of differentiation, provides a potential screening platform for developmental toxicity or therapeutic capacity.

  • Open Access
    CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance
    Troy A. McDiarmid, Vinci Au, Aaron D. Loewen, Joseph Liang, Kota Mizumoto, Donald G. Moerman, Catharine H. Rankin
    Disease Models & Mechanisms 2018 11: dmm036517 doi: 10.1242/dmm.036517 Published 26 November 2018

    Summary: Here, we provide a CRISPR-Cas9 human gene replacement and phenomic characterization strategy to directly replace Caenorhabditis elegans genes with their human orthologs for disease variant modeling and therapeutic screening.

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    The latest from the preLights community – December 2018
    Disease Models & Mechanisms 2018 11: p1201
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  • Open Access

    Hyperuricemia causes kidney damage by promoting autophagy and NLRP3-mediated inflammation in rats with urate oxidase deficiency

    Mian Wu, Yiwen Ma, Xiaoting Chen, Nan Liang, Shen Qu, Haibing Chen
    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

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3D imaging of beta cell mass in diabetic mouse models

In their inducible mouse model of diabetes, Roostalu et al. demonstrate how quantitative light-sheet imaging can capture changes in individual islets to help pharmacological research in diabetes.

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Modelling Joubert syndrome patient-derived mutations in C. elegans

In this issue’s Editor’s choice, Karen Lange and colleagues used C. elegans to model and characterise two patient-derived mutations that cause the ciliopathy Joubert syndrome.


Interview – Karen Lange

First author of our current Editor’s choice, Karen Lange takes us behind the scenes of the paper, and shares her thoughts on how the lack of both time and job security will impact her research.

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