- Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
Summary: A new mouse model reproduces the predominant genetic disposition of patients affected by erythropoietic protoporphyria, a rare disease associated with extreme pain after light exposure.
- Vertical sleeve gastrectomy reduces blood pressure and hypothalamic endoplasmic reticulum stress in mice
Summary: Vertical sleeve gastrectomy in mice decreases blood pressure independent of body mass, which may be due to a decrease in hypothalamic ER stress.
- Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4
Summary: A forward genetic screen approach unveils a new mechanism, involving Nr2f1 and/or A830082K12Rik overexpression in neural crest cells, that could promote development of Waardenburg syndrome and Hirschsprung disease.
- YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17
Summary: We identify the YBR/EiJ mouse strain as a new model of high intraocular pressure and glaucoma, and also identify genetic loci that contribute to this glaucoma.
- Hyperactivity and attention deficits in mice with decreased levels of stress-inducible phosphoprotein 1 (STIP1)
Summary: Here, using a series of behavioral tests including touchscreen tasks we show that decreased levels of stress-inducible phosphoprotein 1 (STIP1) lead to attention deficits and hyperactivity in mice.
- T-cell number and subtype influence the disease course of primary chronic lymphocytic leukaemia xenografts in alymphoid mice
Summary: Manipulation of T cells can enhance current CLL xenograft models, expanding their utility for investigation of tumour biology and pre-clinical drug assessment.
- Acute perioperative-stress-induced increase of atherosclerotic plaque volume and vulnerability to rupture in apolipoprotein-E-deficient mice is amenable to statin treatment and IL-6 inhibition
Summary: We developed a model to study the dynamics of atherosclerotic plaque growth and stability following surgery, and show that IL-6 inhibition and statins beneficially affect plaque volume and complexity.
- Deducing the stage of origin of Wilms' tumours from a developmental series of Wt1-mutant mice
Summary: The comparison of different nephron-specific Wt1-knockout mouse models identifies the stage of origin of human WT1-mutant Wilms' tumours.
- Deletion of the App-Runx1 region in mice models human partial monosomy 21
Summary: The Del(16App-Runx1)5Yah mouse model displays morphological abnormalities and behavioural phenotypes similar to those found in humans with partial monosomy 21, and it therefore demonstrates the major contribution of the App-Runx1 region to the pathophysiology of partial monosomy 21.