Results 281 to 290 of about 226,675 (297)
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Mouse Models and Genetic Modifiers in X-Linked Adrenoleukodystrophy
2003X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder that affects 1 in 35000 males and is marked by neurodegeneration, adrenal insufficiency and infertility. All characteristics are not always present in every X-ALD patient and the rate of progression varies.
Ann K. Heinzer +10 more
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Genetic modifiers in mice: the example of the fragile X mouse model
Cytogenetic and Genome Research, 2004Modifiers play an important role in most, if not all human diseases, and mouse models. For some disease models, such as the cystic fibrosis knockout mouse model, the effect of genetic factors other than the causative mutation has been well established and a modifier gene has been mapped. For other mouse models, including those of the fragile X syndrome,
Errijgers, V., Kooy, Frank
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In Vivo Transplantation of Genetically Modified Mouse Embryonic Epidermis
2009Situations in which epidermal mutant mice display early lethality after birth are rather frequent. This condition precludes any kind of analysis of adult or even newborn mice tissues. We propose the in vivo embryonic skin transplantation as an alternative to solve this problem.
Ana Belén Martínez-Cruz +4 more
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Genetically Modified Mouse Models of Adamantinomatous Craniopharyngioma
2017Over the last few years, there have been significant advances in the understanding of the pathogenesis of human adamantinomatous craniopharyngioma. Global and gene-specific expression studies of human biopsies have helped to delineate the network of pathways involved in the initiation and establishment of these tumours.
Cynthia L. Andoniadou +1 more
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Genetically modified mouse models for premature ovarian failure (POF)
Molecular and Cellular Endocrinology, 2010Premature ovarian failure (POF) is a complex disorder that affects approximately 1% of women. POF is characterized by the depletion of functional ovarian follicles before the age of 40 years, and clinically, patients may present with primary amenorrhea or secondary amenorrhea.
Deepak Adhikari +3 more
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Genetically Modified Mouse Health Reporting: A Need for Global Standardization
Lab Animal, 2003The distribution of GM mice between facilities has raised new problems because of variable microbiological quality. One of the most important management issues concerns the methods of reporting laboratory animal health surveillance results. The authors evaluated the format and content of 380 health reports of mice received from 55 institutions in ...
Ernesto de la Cueva +2 more
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Minimizing strain influences in a genetically modified mouse phenotyping platform
Annals of the New York Academy of Sciences, 2011Our approach has been to power studies to allow for detection of at least modest changes from a wild‐type littermate control, include assays with overlapping physiological systems to provide cross‐functional interpretive value, and to employ challenge assays.
Michael D. Hayward +2 more
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Genetically modified mouse models to investigate thyroid development, function and growth
Best Practice & Research Clinical Endocrinology & Metabolism, 2018The thyroid gland produces thyroid hormones (TH), which are essential regulators for growth, development and metabolism. The thyroid is mainly controlled by the thyroid-stimulating hormone (TSH) that binds to its receptor (TSHR) on thyrocytes and mediates its action via different G protein-mediated signaling pathways.
Christoffer Löf +4 more
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Regression of atherosclerosis: lessons learned from genetically modified mouse models
Current Opinion in Lipidology, 2018Purpose of review Regression, or reversal, of atherosclerosis has become an important clinical objective. The development of consistent models of murine atherosclerosis regression has accelerated this field of research. The purpose of this review is to highlight recent mouse studies that reveal molecular mechanisms as well as ...
Amy C. Burke, Murray W. Huff
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Noonan syndrome: lessons learned from genetically modified mouse models
Expert Review of Endocrinology & Metabolism, 2017Noonan syndrome is a RASopathy that results from activating mutations in different members of the RAS/MAPK signaling pathway. At least eleven members of this pathway have been found mutated, PTPN11 being the most frequently mutated gene affecting about 50% of the patients, followed by SOS1 (10%), RAF1 (10%) and KRAS (5%). Recently, even more infrequent
Alberto J. Schuhmacher +3 more
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