Experimental models of disease articles within Nature Communications

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• Article
  05 September 2017 | Open Access

  Integrative genomics of microglia implicates DLG4 (PSD95) in the white matter development of preterm infants

  Inflammation mediated by microglia plays a key role in brain injury associated with preterm birth, but little is known about the microglial response in preterm infants. Here, the authors integrate molecular and imaging data from animal models and preterm infants, and find that microglial expression of DLG4 plays a role.

  • Michelle L. Krishnan
  • , Juliette Van Steenwinckel
  •  & Pierre Gressens

• Article
  05 September 2017 | Open Access

  Cre/lox-assisted non-invasive in vivo tracking of specific cell populations by positron emission tomography

  Non-invasive cell tracking is a powerful method to visualize cells in vivo under physiological and pathophysiological conditions. Here Thunemann et al. generate a mouse model for in vivo tracking and quantification of specific cell types by combining a PET reporter gene with Cre-dependent activation that can be exploited for any cell population for which a Cre mouse line is available.

  • Martin Thunemann
  • , Barbara F. Schörg
  •  & Robert Feil

• Article
  16 August 2017 | Open Access

  Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

  Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause retinal dystrophy, but how this arises at a molecular level is unclear. Here, the authors show in induced pluripotent stem cells and mouse knockouts that RPGR mediates actin dynamics in photoreceptors via the actin-severing protein, gelsolin.

  • Roly Megaw
  • , Hashem Abu-Arafeh
  •  & Charles ffrench-Constant

• Article
  16 June 2017 | Open Access

  Single-cell profiling reveals heterogeneity and functional patterning of GPCR expression in the vascular system

  GPCRs are key regulators of vascular functions. By analysing single-cell GPCRs expression in vascular smooth muscle and endothelial cells from healthy and diseased murine vessels, Kauret al. show that GPCR expression is highly heterogeneous in all cell types and that disease causes GPCR repertoire changes depending on cell type and vascular localization.

  • H. Kaur
  • , J. Carvalho
  •  & N. Wettschureck

• Article
  15 June 2017 | Open Access

  A Cdc42/RhoA regulatory circuit downstream of glycoprotein Ib guides transendothelial platelet biogenesis

  Platelets derive from large precursor cells (megakaryocytes) in the bone marrow. Düttinget al. show that megakaryocyte polarization and platelet biogenesis in the bone-marrow sinusoids are directed by adhesion receptor GPIb signalling and resulting balanced antagonism between RhoA (stop-signal) and Cdc42 (go-signal).

  • Sebastian Dütting
  • , Frederique Gaits-Iacovoni
  •  & Bernhard Nieswandt

• Review Article
  09 February 2017 | Open Access

  The molecular basis of endothelial cell plasticity

  Vascular endothelium possesses remarkable plasticity in response to cues from its surroundings, leading to great heterogeneity of endothelial cells in different vascular beds. Here the authors explain the molecular basis of endothelial plasticity during embryogenesis and in various diseases.

  • Elisabetta Dejana
  • , Karen K. Hirschi
  •  & Michael Simons

• Article
  14 November 2016 | Open Access

  Selective removal of deletion-bearing mitochondrial DNA in heteroplasmic Drosophila

  Heteroplasmy, in which mutant and wild-type mitochondrial DNA (mtDNA) coexist in a cell, can result in diseases. Here the authors generate transgenic flies with heteroplasmic mtDNA in flight muscles, and show that stimulation of autophagy, or a decrease in mitofusin, promotes clearance of mutant mtDNA.

  • Nikolay P. Kandul
  • , Ting Zhang
  •  & Ming Guo

• Article
  17 June 2015 | Open Access

  Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model

  Familial hypercholesterolemia (FH) is a congenital disease associated with high plasma cholesterol levels. Here, the authors recapitulate FH in chimeric mice, in which livers are repopulated with hepatocytes from an FH patient, and successfully correct the disease using adenovirus-mediated gene therapy.

  • Beatrice Bissig-Choisat
  • , Lili Wang
  •  & Karl-Dimiter Bissig

• Article | 09 March 2015

  MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction

  Accumulation of mitochondrial DNA (mtDNA) mutations is linked to severe anaemia by an unknown mechanism. Here the authors show that excessive mtDNA mutations impair mitochondrial expulsion during erythropoiesis leading to augmented erythrocyte clearance and anaemia in mice and humans.

  • K.J. Ahlqvist
  • , S. Leoncini
  •  & A. Suomalainen

• Article
  23 January 2015 | Open Access

  Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179

  The rd1 mouse is the most widely used model to study retinal degeneration. Here, the authors identify a wide-spread mutation in these mice that may explain the failure of previous gene therapeutic approaches and show that long-lasting restoration of vision is possible in rd1 mice without this mutation.

  • Koji M. Nishiguchi
  • , Livia S. Carvalho
  •  & Robin R. Ali

• Article | 07 July 2014

  Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCs

  Fanconi anaemia (FA) is a genetic disease associated with low levels of blood stem cells. Here Liu et al.report an improved method to generate genetically corrected induced pluripotent stem cells from an FA patient, and perform a screening to identify drugs that improve their differentiation into blood stem cells.

  • Guang-Hui Liu
  • , Keiichiro Suzuki
  •  & Juan Carlos Izpisua Belmonte