First person - Claire L. Wood [FIRST PERSON]
ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers. Claire Wood is first author on ‘A comparison of the bone and growth phenotype of mdx, mdx:Cmah–/– and mdx:Utrn+/– murine models with the C57BL/10 wild-type mouse’, published in DMM. Claire conducted the research described in this article while an MRC Clinical Research Training Fellow in Colin Farquharson's lab at Roslin Institute, University of Edinburgh, UK. She is now an ...
Source: DMM Disease Models and Mechanisms - January 9, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy [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 - January 9, 2020 Category: Biomedical Science Authors: Fernandes, S. A., Almeida, C. F., Souza, L. S., Lazar, M., Onofre-Oliveira, P., Yamamoto, G. L., Nogueira, L., Tasaki, L. Y., Cardoso, R. R., Pavanello, R. C. M., Silva, H. C. A., Ferrari, M. F. R., Bigot, A., Mouly, V., Vainzof, M. Tags: Neuromuscular RESEARCH ARTICLE Source Type: research

A comparison of the bone and growth phenotype of mdx, mdx:Cmah-/- and mdx:Utrn+/- murine models with the C57BL/10 wild-type mouse [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 - January 9, 2020 Category: Biomedical Science Authors: Wood, C. L., Suchaki, K. J., van t Hof, R., Cawthorn, W. P., Dillon, S., Straub, V., Wong, S. C., Ahmed, S. F., Farquharson, C. Tags: Neuromuscular RESEARCH ARTICLE Source Type: research

From blood development to disease: a paradigm for clinical translation [EDITORIAL]
ABSTRACT Translating basic research to the clinic is a primary aim of Disease Models & Mechanisms, and the recent successes in hematopoiesis research provide a blueprint of how fundamental biological research can provide solutions to important clinical problems. These advances were the main motivation for choosing hematopoiesis disorders as the focus of our inaugural meeting, ‘Blood Disorders: Models, Mechanisms and Therapies’, which was held in early October 2019. This Editorial discusses the reasons for and the challenges of interdisciplinary research in hematopoiesis, provides examples of how research in...
Source: DMM Disease Models and Mechanisms - January 8, 2020 Category: Biomedical Science Authors: Justice, M. J., Hmeljak, J., Sankaran, V. G., Socolovsky, M., Zon, L. I. Tags: Editorials Source Type: research

Determining macrophage versus neutrophil contributions to innate immunity using larval zebrafish [REVIEW]
ABSTRACT The specific roles of the two major innate immune cell types – neutrophils and macrophages – in response to infection and sterile inflammation are areas of great interest. The larval zebrafish model of innate immunity, and the imaging capabilities it provides, is a source of new research and discoveries in this field. Multiple methods have been developed in larval zebrafish to specifically deplete functional macrophages or neutrophils. Each of these has pros and cons, as well as caveats, that often make it difficult to directly compare results from different studies. The purpose of this Review is to (1...
Source: DMM Disease Models and Mechanisms - January 8, 2020 Category: Biomedical Science Authors: Rosowski, E. E. Tags: Zebrafish as a Disease Model REVIEW Source Type: research

A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress [RESEARCH ARTICLE]
ABSTRACT Mutations in the gene AK2 are responsible for reticular dysgenesis (RD), a rare and severe form of primary immunodeficiency in children. RD patients have a severely shortened life expectancy and without treatment die, generally from sepsis soon after birth. The only available therapeutic option for RD is hematopoietic stem cell transplantation (HSCT). To gain insight into the pathophysiology of RD, we previously created zebrafish models for Ak2 deficiencies. One of the clinical features of RD is hearing loss, but its pathophysiology and causes have not been determined. In adult mammals, sensory hair cells of the i...
Source: DMM Disease Models and Mechanisms - December 19, 2019 Category: Biomedical Science Authors: Rissone, A., Jimenez, E., Bishop, K., Carrington, B., Slevin, C., Wincovitch, S. M., Sood, R., Candotti, F., Burgess, S. M. Tags: Zebrafish as a Disease Model RESEARCH ARTICLE Source Type: research

Cored in the act: the use of models to understand core myopathies [REVIEW]
ABSTRACT The core myopathies are a group of congenital myopathies with variable clinical expression – ranging from early-onset skeletal-muscle weakness to later-onset disease of variable severity – that are identified by characteristic ‘core-like’ lesions in myofibers and the presence of hypothonia and slowly or rather non-progressive muscle weakness. The genetic causes are diverse; central core disease is most often caused by mutations in ryanodine receptor 1 (RYR1), whereas multi-minicore disease is linked to pathogenic variants of several genes, including selenoprotein N (SELENON), RYR1 and titin...
Source: DMM Disease Models and Mechanisms - December 18, 2019 Category: Biomedical Science Authors: Fusto, A., Moyle, L. A., Gilbert, P. M., Pegoraro, E. Tags: Neuromuscular REVIEW Source Type: research

The resistome and genomic reconnaissance in the age of malaria elimination [REVIEW]
ABSTRACT Malaria is an infectious disease caused by parasitic protozoa in the Plasmodium genus. A complete understanding of the biology of these parasites is challenging in view of their need to switch between the vertebrate and insect hosts. The parasites are also capable of becoming highly motile and of remaining dormant for decades, depending on the stage of their life cycle. Malaria elimination efforts have been implemented in several endemic countries, but the parasites have proven to be resilient. One of the major obstacles for malaria elimination is the development of antimalarial drug resistance. Ineffective treatm...
Source: DMM Disease Models and Mechanisms - December 18, 2019 Category: Biomedical Science Authors: Kümpornsin, K., Kochakarn, T., Chookajorn, T. Tags: REVIEW Source Type: research

First person - Zhaoyang 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. Zhaoyang Liu is first author on ‘Regulation of terminal hypertrophic chondrocyte differentiation in Prmt5 mutant mice modeling infantile idiopathic scoliosis’, published in DMM. Zhaoyang is a postdoctoral fellow in the lab of Ryan Gray at The University of Texas at Austin, Austin, TX, USA, investigating mechanisms of cartilage development and musculoskeletal-related diseases. (Source: DMM Disease ...
Source: DMM Disease Models and Mechanisms - December 16, 2019 Category: Biomedical Science Tags: FIRST PERSON Source Type: research

First person - Omkara Lakshmi Veeranki [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. Omkara Lakshmi Veeranki is first author on ‘ A novel patient-derived orthotopic xenograft model of esophageal adenocarcinoma provides a platform for translational discoveries’, published in DMM. Omkara Lakshmi is a postdoctoral fellow in the lab of Dr Dipen Maru at The University of Texas MD Anderson Cancer Center, Houston, TX, USA. The focus of her research is understanding key molecular targets ...
Source: DMM Disease Models and Mechanisms - December 16, 2019 Category: Biomedical Science Tags: FIRST PERSON Source Type: research

Regulation of terminal hypertrophic chondrocyte differentiation in Prmt5 mutant mice modeling infantile idiopathic scoliosis [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 16, 2019 Category: Biomedical Science Authors: Liu, Z., Ramachandran, J., Vokes, S. A., Gray, R. S. Tags: RESEARCH ARTICLE Source Type: research

A novel patient-derived orthotopic xenograft model of esophageal adenocarcinoma provides a platform for translational discoveries [RESOURCE 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 16, 2019 Category: Biomedical Science Authors: Veeranki, O. L., Tong, Z., Mejia, A., Verma, A., Katkhuda, R., Bassett, R., Kim, T.-B., Wang, J., Lang, W., Mino, B., Solis, L., Kingsley, C., Norton, W., Tailor, R., Wu, J. Y., Krishnan, S., Lin, S. H., Blum, M., Hofstetter, W., Ajani, J., Kopetz, S., Ma Tags: Cancer RESOURCE ARTICLE Source Type: research

Notch4 activation aggravates NF-{kappa}B-mediated inflammation in HIV-1-associated nephropathy [RESEARCH ARTICLE]
In this study, we examined whether the Notch pathway can be distinctly activated by HIV-1 gene products and whether Notch4, in particular, can influence disease progression. Using luciferase reporter assays, we did not observe activation of the NOTCH4 promoter with the HIV protein Nef in podocytes. Further, we observed upregulated expression of a gamma secretase complex protein, presenilin 1, but not Notch4, in podocytes infected with an HIV-1 expression construct. To assess the effects of Notch4 on HIVAN disease progression, we engineered Tg26 mice with global deletion of the Notch4 intracellular domain (Notch4dl), which ...
Source: DMM Disease Models and Mechanisms - December 16, 2019 Category: Biomedical Science Authors: Puri, R. V., Yerrathota, S., Home, T., Idowu, J. Y., Chakravarthi, V. P., Ward, C. J., Singhal, P. C., Vanden Heuvel, G. B., Fields, T. A., Sharma, M. Tags: RESEARCH ARTICLE Source Type: research

First person - Christine Lehner [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. Christine Lehner is first author on ‘Tenophages: a novel macrophage-like tendon cell population expressing CX3CL1 and CX3CR1’, published in DMM. Christine is a researcher in the lab of Andreas Traweger at Paracelsus Medical University, Salzburg, Austria, investigating the mechanisms leading to tendinopathies. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 15, 2019 Category: Biomedical Science Tags: FIRST PERSON Source Type: research

Tenophages: a novel macrophage-like tendon cell population expressing CX3CL1 and CX3CR1 [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 15, 2019 Category: Biomedical Science Authors: Lehner, C., Spitzer, G., Gehwolf, R., Wagner, A., Weissenbacher, N., Deininger, C., Emmanuel, K., Wichlas, F., Tempfer, H., Traweger, A. Tags: RESEARCH ARTICLE Source Type: research