First person - Emilie Auxerre-Plantie and Tanja Nielsen [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Emilie Auxerre-Plantié and Tanja Nielsen are co-first authors on ‘Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart’, published in DMM. Emilie conducted the research described in this article while a postdoctoral researcher in Prof. Silke Rickert-Sperling's lab at Charité–Uni...
Source: DMM Disease Models and Mechanisms - December 21, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
First person - Xinrui Wang [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Xinrui Wang is first author on ‘Myh6-driven Cre recombinase activates the DNA damage response and the cell cycle in the myocardium in the absence of loxP sites’, published in DMM. Xinrui is a postdoctoral fellow in the lab of John Auchampach at the Medical College of Wisconsin, Milwaukee, WI, USA, investigating cellular and molecular mechanisms of myocardium re-muscularization after injury. (Sourc...
Source: DMM Disease Models and Mechanisms - December 21, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease [REVIEW]
ABSTRACT
Mammalian lungs have the ability to recognize external environments by sensing different compounds in inhaled air. Pulmonary neuroendocrine cells (PNECs) are rare, multi-functional epithelial cells currently garnering attention as intrapulmonary sensors; PNECs can detect hypoxic conditions through chemoreception. Because PNEC overactivation has been reported in patients suffering from respiratory diseases – such as asthma, chronic obstructive pulmonary disease, bronchopulmonary dysplasia and other congenital diseases – an improved understanding of the fundamental characteristics of PNECs is becoming cr...
Source: DMM Disease Models and Mechanisms - December 21, 2020 Category: Biomedical Science Authors: Noguchi, M., Furukawa, K. T., Morimoto, M. Tags: Stem Cells, Cancer, Developmental Disorders REVIEW Source Type: research
Myh6-driven Cre recombinase activates the DNA damage response and the cell cycle in the myocardium in the absence of loxP sites [RESEARCH ARTICLE]
This article has an associated First Person interview with the first author of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 18, 2020 Category: Biomedical Science Authors: Wang, X., Lauth, A., Wan, T. C., Lough, J. W., Auchampach, J. A. Tags: RESEARCH ARTICLE Source Type: research
Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart [RESEARCH ARTICLE]
This article has an associated First Person interview with Emilie Auxerre-Plantié and Tanja Nielsen, joint first authors of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 18, 2020 Category: Biomedical Science Authors: Auxerre-Plantie, E., Nielsen, T., Grunert, M., Olejniczak, O., Perrot, A., Özcelik, C., Harries, D., Matinmehr, F., Dos Remedios, C., Mühlfeld, C., Kraft, T., Bodmer, R., Vogler, G., Sperling, S. R. Tags: Drosophila as a Disease Model RESEARCH ARTICLE Source Type: research
3D quantification of changes in pancreatic islets in mouse models of diabetes type I and II [RESEARCH ARTICLE]
ABSTRACT
Diabetes is characterized by rising levels of blood glucose and is often associated with a progressive loss of insulin-producing beta cells. Recent studies have demonstrated that it is possible to regenerate new beta cells through proliferation of existing beta cells or trans-differentiation of other cell types into beta cells, raising hope that diabetes can be cured through restoration of functional beta cell mass. Efficient quantification of beta cell mass and islet characteristics is needed to enhance drug discovery for diabetes. Here, we report a 3D quantitative imaging platform for unbiased evaluation of chan...
Source: DMM Disease Models and Mechanisms - December 18, 2020 Category: Biomedical Science Authors: Roostalu, U., Lercke Skytte, J., Gravesen Salinas, C., Klein, T., Vrang, N., Jelsing, J., Hecksher-Sorensen, J. Tags: Metabolic Disorders RESEARCH ARTICLE Source Type: research
First person - Jiang-Hua Liu [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Jiang-Hua Liu is first author on ‘Akkermansia muciniphila promotes type H vessel formation and bone fracture healing by reducing gut permeability and inflammation’, published in DMM. Jiang-Hua is a PhD student in the lab of Hui Xie in the Department of Orthopaedics, Xiangya Hospital, Central South University, China, investigating how A. muciniphila promotes type H vessel formation in callus of fra...
Source: DMM Disease Models and Mechanisms - December 1, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Akkermansia muciniphila promotes type H vessel formation and bone fracture healing by reducing gut permeability and inflammation [RESEARCH ARTICLE]
This study provides the evidence for the involvement of type H vessels in fracture healing and suggests the potential of A. muciniphila as a promising strategy for bone healing.
This article has an associated First Person interview with the first author of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 1, 2020 Category: Biomedical Science Authors: Liu, J.-H., Yue, T., Luo, Z.-W., Cao, J., Yan, Z.-Q., Jin, L., Wan, T.-F., Shuai, C.-J., Wang, Z.-G., Zhou, Y., Xu, R., Xie, H. Tags: Microbiome RESEARCH ARTICLE Source Type: research
First person - Katie Lloyd and Stamatia Papoutsopoulou [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Katie Lloyd and Stamatia Papoutsopoulou are co-first authors on ‘Using systems medicine to identify a therapeutic agent with potential for repurposing in inflammatory bowel disease’, published in DMM. Katie conducted the research described in this article while a postdoctoral research associate in Prof. Chris Probert's lab at the University of Liverpool, Liverpool, UK. She is now a lecturer in pha...
Source: DMM Disease Models and Mechanisms - November 27, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney [RESEARCH ARTICLE]
ABSTRACT
L-2-hydroxyglutarate (L-2HG) is an oncometabolite found elevated in renal tumors. However, this molecule might have physiological roles that extend beyond its association with cancer, as L-2HG levels are elevated in response to hypoxia and during Drosophila larval development. L-2HG is known to be metabolized by L-2HG dehydrogenase (L2HGDH), and loss of L2HGDH leads to elevated L-2HG levels. Despite L2HGDH being highly expressed in the kidney, its role in renal metabolism has not been explored. Here, we report our findings utilizing a novel CRISPR/Cas9 murine knockout model, with a specific focus on the role of L2...
Source: DMM Disease Models and Mechanisms - November 27, 2020 Category: Biomedical Science Authors: Brinkley, G., Nam, H., Shim, E., Kirkman, R., Kundu, A., Karki, S., Heidarian, Y., Tennessen, J. M., Liu, J., Locasale, J. W., Guo, T., Wei, S., Gordetsky, J., Johnson-Pais, T. L., Absher, D., Rakheja, D., Challa, A. K., Sudarshan, S. Tags: Cancer metabolism RESEARCH ARTICLE Source Type: research
Restoration of motor learning in a mouse model of Rett syndrome following long-term treatment with a novel small-molecule activator of TrkB [RESEARCH ARTICLE]
ABSTRACT
Reduced expression of brain-derived neurotrophic factor (BDNF) and impaired activation of the BDNF receptor, tropomyosin receptor kinase B (TrkB; also known as Ntrk2), are thought to contribute significantly to the pathophysiology of Rett syndrome (RTT), a severe neurodevelopmental disorder caused by loss-of-function mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). Previous studies from this and other laboratories have shown that enhancing BDNF expression and/or TrkB activation in Mecp2-deficient mouse models of RTT can ameliorate or reverse abnormal neurological phenotypes that mimic ...
Source: DMM Disease Models and Mechanisms - November 27, 2020 Category: Biomedical Science Authors: Adams, I., Yang, T., Longo, F. M., Katz, D. M. Tags: Neurodegenerative disorders, Rare diseases, Developmental Disorders RESEARCH ARTICLE Source Type: research
Using systems medicine to identify a therapeutic agent with potential for repurposing in inflammatory bowel disease [RESEARCH ARTICLE]
This study aimed to identify drugs that alter NF-B signalling and could be repositioned for use in IBD. The SysmedIBD Consortium established a novel drug-repurposing pipeline based on a combination of in silico drug discovery and biological assays targeted at demonstrating an impact on NF-B signalling, and a murine model of IBD. The drug discovery algorithm identified several drugs already established in IBD, including corticosteroids. The highest-ranked drug was the macrolide antibiotic clarithromycin, which has previously been reported to have anti-inflammatory effects in aseptic conditions. The effects of clarithromycin...
Source: DMM Disease Models and Mechanisms - November 27, 2020 Category: Biomedical Science Authors: Lloyd, K., Papoutsopoulou, S., Smith, E., Stegmaier, P., Bergey, F., Morris, L., Kittner, M., England, H., Spiller, D., White, M. H. R., Duckworth, C. A., Campbell, B. J., Poroikov, V., Martins dos Santos, V. A. P., Kel, A., Muller, W., Pritchard, D. M., Tags: Organoids, Model Systems in Drug Discovery RESEARCH ARTICLE Source Type: research
L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1 [RESEARCH ARTICLE]
ABSTRACT
The mariner (myo7aa–/–) mutant is a zebrafish model for Usher syndrome type 1 (USH1). To further characterize hair cell synaptic elements in myo7aa–/– mutants, we focused on the ribbon synapse and evaluated ultrastructure, number and distribution of immunolabeled ribbons, and postsynaptic densities. By transmission electron microscopy, we determined that myo7aa–/– zebrafish have fewer glutamatergic vesicles tethered to ribbon synapses, yet maintain a comparable ribbon area. In myo7aa–/– hair cells, immunolocalization of Ctbp2 showed fewer ribbon-containing cells in t...
Source: DMM Disease Models and Mechanisms - November 27, 2020 Category: Biomedical Science Authors: Koleilat, A., Dugdale, J. A., Christenson, T. A., Bellah, J. L., Lambert, A. M., Masino, M. A., Ekker, S. C., Schimmenti, L. A. Tags: Rare diseases, Developmental Disorders, Zebrafish as a Disease Model RESEARCH ARTICLE Source Type: research
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration [RESEARCH ARTICLE]
ABSTRACT
Skeletal muscle development and regeneration are tightly regulated processes. How the intracellular organization of muscle fibers is achieved during these steps is unclear. Here, we focus on the cellular and physiological roles of amphiphysin 2 (BIN1), a membrane remodeling protein mutated in both congenital and adult centronuclear myopathies (CNM), that is ubiquitously expressed and has skeletal muscle-specific isoforms. We created and characterized constitutive muscle-specific and inducible Bin1 homozygous and heterozygous knockout mice targeting either ubiquitous or muscle-specific isoforms. Constitutive Bin1-d...
Source: DMM Disease Models and Mechanisms - November 24, 2020 Category: Biomedical Science Authors: Prokic, I., Cowling, B. S., Kutchukian, C., Kretz, C., Tasfaout, H., Gache, V., Hergueux, J., Wendling, O., Ferry, A., Toussaint, A., Gavriilidis, C., Nattarayan, V., Koch, C., Laine, J., Combe, R., Tiret, L., Jacquemond, V., Pilot-Storck, F., Laporte, J. Tags: Neuromuscular RESEARCH ARTICLE Source Type: research
First person - Lena Marie Westermann [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Lena Marie Westermann is first author on ‘Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma’, published in DMM. Lena Marie is an MD student in the lab of Dr Sandra Pohl at University Medical Center Hamburg-Eppendorf, Hamburg, Germany, investigating bone and connective tissue phenotypes in lysosomal storage disorders...
Source: DMM Disease Models and Mechanisms - November 18, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
