Neural crest-specific loss of Bmp7 leads to midfacial hypoplasia, nasal airway obstruction and disordered breathing, modeling obstructive sleep apnea [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 - February 11, 2021 Category: Biomedical Science Authors: Baddam, P., Biancardi, V., Roth, D. M., Eaton, F., Thereza-Bussolaro, C., Mandal, R., Wishart, D. S., Barr, A., MacLean, J., Flores-Mir, C., Pagliardini, S., Graf, D. Tags: Developmental Disorders RESEARCH ARTICLE Source Type: research
TDP-43 mislocalization drives neurofilament changes in a novel model of TDP-43 proteinopathy [RESEARCH ARTICLE]
ABSTRACT
Mislocalization of the TAR DNA-binding protein 43 (TDP-43; encoded by TARDBP) from the nucleus to the cytoplasm is a common feature of neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). The downstream in vivo cellular effects of this mislocalization are not well understood. To investigate the impact of mislocalized TDP-43 on neuronal cell bodies, axons and axonal terminals, we utilized the mouse visual system to create a new model of TDP-43 proteinopathy. Mouse (C57BL/6J) retinal ganglion cells (RGCs) were transduced with GFP-tagged human wild-typ...
Source: DMM Disease Models and Mechanisms - February 11, 2021 Category: Biomedical Science Authors: Atkinson, R., Leung, J., Bender, J., Kirkcaldie, M., Vickers, J., King, A. Tags: Neurodegenerative disorders RESEARCH ARTICLE Source Type: research
The latest from the preLights community - January 2021 [PREPRINT HIGHLIGHTS]
(Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - February 8, 2021 Category: Biomedical Science Tags: PREPRINT HIGHLIGHTS Source Type: research
Mutant non-coding RNA resource in mouse embryonic stem cells [RESOURCE ARTICLE]
ABSTRACT
Gene trapping is a high-throughput approach that has been used to introduce insertional mutations into the genome of mouse embryonic stem (ES) cells. It is performed with generic gene trap vectors that simultaneously mutate and report the expression of the endogenous gene at the site of insertion and provide a DNA sequence tag for the rapid identification of the disrupted gene. Large-scale international efforts assembled a gene trap library of 566,554 ES cell lines with single gene trap integrations distributed throughout the genome. Here, we re-investigated this unique library and identified mutations in 2202 non...
Source: DMM Disease Models and Mechanisms - February 5, 2021 Category: Biomedical Science Authors: Hansen, J., von Melchner, H., Wurst, W. Tags: Stem Cells, Tools and Resources for Mouse Studies RESOURCE ARTICLE Source Type: research
AIRE deficiency, from preclinical models to human APECED disease [REVIEW]
ABSTRACT
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare life-threatening autoimmune disease that attacks multiple organs and has its onset in childhood. It is an inherited condition caused by a variety of mutations in the autoimmune regulator (AIRE) gene that encodes a protein whose function has been uncovered by the generation and study of Aire-KO mice. These provided invaluable insights into the link between AIRE expression in medullary thymic epithelial cells (mTECs), and the broad spectrum of self-antigens that these cells express and present to the developing thymocytes. However, the...
Source: DMM Disease Models and Mechanisms - February 5, 2021 Category: Biomedical Science Authors: Besnard, M., Padonou, F., Provin, N., Giraud, M., Guillonneau, C. Tags: REVIEW Source Type: research
First person - Talia Nasr [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. Talia Nasr is first author on ‘Disruption of a Hedgehog-Foxf1-Rspo2 signaling axis leads to tracheomalacia and a loss of Sox9+ tracheal chondrocytes’, published in DMM. Talia is a MD/PhD student at the University of Cincinnati, USA, currently in the final two MD years, with the PhD work completed in the lab of Aaron Zorn, investigating the pathogenesis of congenital tracheoesophageal defects. (Sou...
Source: DMM Disease Models and Mechanisms - February 4, 2021 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Disruption of a Hedgehog-Foxf1-Rspo2 signaling axis leads to tracheomalacia and a loss of Sox9+ tracheal chondrocytes [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 - February 4, 2021 Category: Biomedical Science Authors: Nasr, T., Holderbaum, A. M., Chaturvedi, P., Agarwal, K., Kinney, J. L., Daniels, K., Trisno, S. L., Ustiyan, V., Shannon, J. M., Wells, J. M., Sinner, D., Kalinichenko, V. V., Zorn, A. M. Tags: Developmental Disorders RESEARCH ARTICLE Source Type: research
First person - Karen Lange [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. Karen Lange is first author on ‘Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans’, published in DMM. Karen is a postdoc in the lab of Oliver Blacque at University College Dublin, Dublin, Ireland, using genome-editing techniques in worms to investigate ciliopathies, rare genetic disorders caused by defects in cilia. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - January 26, 2021 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
The darkness and the light: diurnal rodent models for seasonal affective disorder [REVIEW]
ABSTRACT
The development of animal models is a critical step for exploring the underlying pathophysiological mechanisms of major affective disorders and for evaluating potential therapeutic approaches. Although most neuropsychiatric research is performed on nocturnal rodents, differences in how diurnal and nocturnal animals respond to changing photoperiods, combined with a possible link between circadian rhythm disruption and affective disorders, has led to a call for the development of diurnal animal models. The need for diurnal models is most clear for seasonal affective disorder (SAD), a widespread recurrent depressive ...
Source: DMM Disease Models and Mechanisms - January 26, 2021 Category: Biomedical Science Authors: Shankar, A., Williams, C. T. Tags: Rat as a Disease Model REVIEW Source Type: research
Resolving the heterogeneity of diaphragmatic mesenchyme: a novel mouse model of congenital diaphragmatic hernia [RESEARCH ARTICLE]
ABSTRACT
Congenital diaphragmatic hernia (CDH) is a relatively common developmental defect with considerable mortality and morbidity. Formation of the diaphragm is a complex process that involves several cell types, each with different developmental origins. Owing to this complexity, the aetiology of CDH is not well understood. The pleuroperitoneal folds (PPFs) and the posthepatic mesenchymal plate (PHMP) are transient structures that are essential during diaphragm development. Using several mouse models, including lineage tracing, we demonstrate the heterogeneous nature of the cells that make up the PPFs. The conditional ...
Source: DMM Disease Models and Mechanisms - January 26, 2021 Category: Biomedical Science Authors: Cleal, L., McHaffie, S. L., Lee, M., Hastie, N., Martinez-Estrada, O. M., Chau, Y.-Y. Tags: Developmental Disorders RESEARCH ARTICLE Source Type: research
Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans [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 26, 2021 Category: Biomedical Science Authors: Lange, K. I., Tsiropoulou, S., Kucharska, K., Blacque, O. E. Tags: Rare diseases, Developmental Disorders, C. elegans RESEARCH ARTICLE Source Type: research
Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain [RESEARCH ARTICLE]
ABSTRACT
Connexin 30 (Cx30; also known as Gjb6 when referring to the mouse gene) is expressed in ependymal cells of the brain ventricles, in leptomeningeal cells and in astrocytes rich in connexin 43 (Cx43), leading us to question whether patients harboring GJB6 mutations exhibit any brain anomalies. Here, we used mice harboring the human disease-associated A88V Cx30 mutation to address this gap in knowledge. Brain Cx30 levels were lower in male and female Cx30A88V/A88V mice compared with Cx30A88V/+ and Cx30+/+ mice, whereas Cx43 levels were lower only in female Cx30 mutant mice. Characterization of brain morphology reveal...
Source: DMM Disease Models and Mechanisms - January 26, 2021 Category: Biomedical Science Authors: Novielli-Kuntz, N. M., Press, E. R., Barr, K., Prado, M. A. M., Laird, D. W. Tags: Developmental Disorders RESEARCH ARTICLE Source Type: research
From its roots come branches and growth for Disease Models & Mechanisms [EDITORIAL]
(Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - January 24, 2021 Category: Biomedical Science Authors: Justice, M. J. Tags: EDITORIAL Source Type: research
Haematopoietic ageing through the lens of single-cell technologies [REVIEW]
ABSTRACT
Human lifespan is now longer than ever and, as a result, modern society is getting older. Despite that, the detailed mechanisms behind the ageing process and its impact on various tissues and organs remain obscure. In general, changes in DNA, RNA and protein structure throughout life impair their function. Haematopoietic ageing refers to the age-related changes affecting a haematopoietic system. Aged blood cells display different functional aberrations depending on their cell type, which might lead to the development of haematologic disorders, including leukaemias, anaemia or declining immunity. In contrast to tra...
Source: DMM Disease Models and Mechanisms - January 22, 2021 Category: Biomedical Science Authors: Strzelecka, P. M., Damm, F. Tags: Stem Cells REVIEW Source Type: research
Mistargeting of secretory cargo in retromer-deficient cells [RESEARCH ARTICLE]
ABSTRACT
Intracellular trafficking is a basic and essential cellular function required for delivery of proteins to the appropriate subcellular destination; this process is especially demanding in professional secretory cells, which synthesize and secrete massive quantities of cargo proteins via regulated exocytosis. The Drosophila larval salivary glands are composed of professional secretory cells that synthesize and secrete mucin proteins at the onset of metamorphosis. Using the larval salivary glands as a model system, we have identified a role for the highly conserved retromer complex in trafficking of secretory granule...
Source: DMM Disease Models and Mechanisms - January 22, 2021 Category: Biomedical Science Authors: Neuman, S. D., Terry, E. L., Selegue, J. E., Cavanagh, A. T., Bashirullah, A. Tags: Neurodegenerative disorders, Drosophila as a Disease Model RESEARCH ARTICLE Source Type: research
