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Keywords: Mouse model
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Journal Articles
Dis Model Mech dmm.048082.
Published: 30 April 2021
... epidermolysis bullosa (DDEB) that is characterized by skin fragility, blistering, scarring and nail dystrophy. To better understand the pathophysiology of DDEB and develop more effective treatments, suitable mouse models for DDEB are required but to date none have existed. We identified the two most common...
Journal Articles
Dis Model Mech (2021) 14 (1): dmm046797.
Published: 26 January 2021
... developmental regulator Wt1 in mesenchymal cells in a tissue-specific manner using transgenic mouse models, showing that mutant embryos can survive in utero but die shortly after birth owing to diaphragmatic hernia. Congenital diaphragmatic hernia Wt1 Diaphragm development Prx1-Cre Mesenchyme...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (9): dmm045369.
Published: 21 September 2020
... treatment strategies for DMD, most fail to recapitulate the complete skeletal and cardiac disease manifestations that are presented in affected patients. Here, we generated a mouse model mirroring a patient deletion mutation of exons 52-54 ( Dmd Δ52-54 ). The Dmd Δ52-54 mutation led to the absence of...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (2): dmm041111.
Published: 03 December 2019
... for a cluster of ultra-rare syndromes characterized by motor disturbances and platelet dysfunction. The prevalence of these disorders is at present unknown. In this study, we describe the generation and characterization of a knock-in mouse model (KI - STIM1 I115F ) that bears a clinically relevant...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2019) 12 (11): dmm041228.
Published: 11 November 2019
... promotes vessel maturation without compromising growth. Furthermore, we found that enhancing the activity of this pathway in a mouse model rescues all GMH phenotypes. Altogether, these results demonstrate that enhancing neurovascular signaling through pharmacological targeting of this pathway may be a...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2019) 12 (6): dmm039123.
Published: 17 June 2019
...   3 , 173 - 181 . 10.4161/viru.18685 Mosci , P. , Pericolini , E. , Gabrielli , E. , Kenno , S. , Perito , S. , Bistoni , F. , d'Enfert , C. and Vecchiarelli , A. ( 2013 ). A novel bioluminescence mouse model for monitoring oropharyngeal candidiasis in mice...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2019) 12 (4): dmm037655.
Published: 25 April 2019
... the N-terminal actin-binding domain (ABD) has been confounded by the absence of a relevant animal model. We created a mouse model of the disease recapitulating a novel human mutation, a large de novo deletion of exons 8-34 of the DMD gene, found in a Russian DMD patient. This mutation was achieved by...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2019) 12 (3): dmm036947.
Published: 08 March 2019
... autoantibodies or auto-reactive cells. There is, however, still a considerable need to better understand how to diagnose and treat cardiac complications in autoimmune patients. A range of inducible and spontaneous mouse models of systemic autoimmune diseases is available for mechanistic and therapeutic studies...
Journal Articles
Dis Model Mech (2019) 12 (2): dmm036806.
Published: 22 February 2019
..., hyperactivity and cognitive defects, with some evidence of behavioural seizures. AMPA receptors Behaviour Frrs1l Mouse model Seizures Ferric chelate reductase 1-like (FRRS1L) is a novel, highly conserved, brain-specific protein, the functional characterisation of which has only recently been...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2019) 12 (2): dmm036863.
Published: 12 February 2019
... clinical diagnosis of lung adenocarcinoma, the potential for cfDNA and ctDNA as early detection biomarkers remains unexplored. Here, using a Cre-regulated genetically engineered mouse model of lung adenocarcinoma development, driven by Kras G12D (the Kras LSL-G12D mouse), we serially tracked the release of...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (12): dmm036426.
Published: 18 December 2018
... degeneration. Using mouse models, we investigated the role of IDH3 in retinal disease and mitochondrial function. We identified mice with late-onset retinal degeneration in a screen of ageing mice carrying an ENU-induced mutation, E229K, in Idh3a . Mice homozygous for this mutation exhibit signs of retinal...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (11): dmm036210.
Published: 21 November 2018
... mouse model was used that is based on immunocompromised NOD-scid IL-2Rγ null mice reconstituted with PBMCs from patients with ulcerative colitis (UC). Inflammation had a significant effect on amino acid (AA) levels (Glu P =1E-07, Asp P =1E-04). Principal component analysis (PCA) discriminated between...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (11): dmm035063.
Published: 16 November 2018
... overcome colonization resistance, these models have limitations. Currently, there are no licensed treatments for clinical EHEC infections and, thus, new tools to study EHEC colonization need to be developed. Here, we used a defined microbiota mouse model, consisting of the altered Schaedler flora (ASF), to...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (11): dmm035832.
Published: 16 November 2018
... genetic mouse model of sporadic Beckwith–Wiedemann syndrome (BWS) recapitulates placentomegaly, but placental defects lead to late gestation fetal growth restriction, which contrasts with the fetal overgrowth characteristic of BWS in humans. Beckwith–Wiedemann syndrome Mouse model Fetal growth...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (9): dmm034041.
Published: 30 August 2018
... repair with modelling of new bone ( Van Mechelen et al., 2017 ). Enthesitis Gout Mouse model New bone formation Spondyloarthropathy Summary: The authors introduce a new and reliable enthesitis model triggered by innate immune cells and establish multimodal imaging for dynamically...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (7): dmm034314.
Published: 20 July 2018
... vivo probiotic interventions in allergy, focusing on genetics, sex, age and microbiological status in mouse models of allergic disease. Allergic asthma Allergy Lactobacillus Microbiota Mouse model Probiotic Allergic diseases present a compelling challenge for public health owing...
Journal Articles
Dis Model Mech (2018) 11 (5): dmm032250.
Published: 29 May 2018
... line variants were evaluated for spontaneous metastatic capacity. DNA SNP arrays and RNA-Seq analysis of xenografted tumour cells were conducted to identify genes associated with metastatic proclivity. Triple-negative Breast cancer Metastasis Mouse model Xenograft Genetic and genomic...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (3): dmm031278.
Published: 13 March 2018
... the most common one. However, little is known about the origins and mechanisms responsible for the development of CFC. To our knowledge, no mouse model carrying RASopathy-linked Mek1 or Mek2 gene mutations has been reported. To investigate the molecular and developmental consequences of the Mek1 Y130C...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2017) 10 (10): 1165–1186.
Published: 01 October 2017
...Yann Herault; Jean M. Delabar; Elizabeth M. C. Fisher; Victor L. J. Tybulewicz; Eugene Yu; Veronique Brault ABSTRACT Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse models with Down-syndrome-related features has been developed to understand this complex human...
Journal Articles
Dis Model Mech (2017) 10 (8): 981–991.
Published: 01 August 2017
.... Genet.   21 , 3984 - 3992 . 10.1093/hmg/dds221 Drgonova , J. , Walther , D. , Wang , K. J. , Hartstein , G. L. , Lochte , B. , Troncoso , J. , Uetani , N. , Iwakura , Y. and Uhl , G. R. ( 2015 ). Mouse model for PTPRD associations with WED/RLS and...
Includes: Supplementary data