Neurobiology of Disease, 2005 Canavan disease (CD) is a neurodegenerative disorder characterized by the spongy degeneration of the white matter of the brain. Aspartoacylase (ASPA) gene mutation resulting enzyme deficiency is the basic cause of CD.
Sankar Surendran +3 more
doaj +1 more source
Reduced body weight is a common effect of gene knockout in mice
BMC Genetics, 2008 Background During a search for obesity candidate genes in a small region of the mouse genome, we noticed that many genes when knocked out influence body weight.
Lawler Maureen P +2 more
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A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X. [PDF]
, 2008 BackgroundActivated factor X (FXa) is a vitamin K-dependent serine protease that plays a pivotal role in blood coagulation by converting prothrombin to thrombin. There are no reports of humans with complete deficiency of FX, and knockout of murine F10 is
Arruda, VR +7 more
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The orphan receptor GPR35 contributes to angiotensin II–induced hypertension and cardiac dysfunction in mice [PDF]
, 2018 BACKGROUND: The orphan receptor G protein–coupled receptor 35 (GPR35) has been associated with a range of diseases, including cancer, inflammatory bowel disease, diabetes, hypertension, and heart failure.
Divorty, Nina +3 more
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Spontaneous Activity Patterns Are Altered in the Developing Visual Cortex of the Fmr1 Knockout Mouse
Front. Neural Circuits, 2019 Fragile X syndrome (FXS) is the most prevalent inherited cause of autism and is accompanied by behavioral and sensory deficits. Errors in the wiring of the brain during early development likely contribute to these deficits, but the underlying mechanisms ...
J. Cheyne +3 more
semanticscholar +1 more source
A mitotic kinase scaffold depleted in testicular seminomas impacts spindle orientation in germ line stem cells. [PDF]
, 2015 Correct orientation of the mitotic spindle in stem cells underlies organogenesis. Spindle abnormalities correlate with cancer progression in germ line-derived tumors.
Bucko, Paula +8 more
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DLC2 modulates angiogenic responses in vascular endothelial cells by regulating cell attachment and migration. [PDF]
, 2010 Deleted in liver cancer 1 (DLC1) is a RhoGTPase activation protein-containing tumor suppressor that associates with various types of cancer. Although DLC2 shares a similar domain structure with that of DLC1, the function of DLC2 is not well characterized.
Chen, N-T +5 more
core +3 more sources
Aberrant habit formation in the Sapap3-knockout mouse model of obsessive-compulsive disorder
Scientific Reports, 2019 Motor behavior can be executed deliberately to achieve specific goals. With repetition, such behavior can become habitual and noncontingent on actions-outcomes.
Lotfi C. Hadjas, C. Lüscher, L. Simmler
semanticscholar +1 more source
Double Deletion of PI3K and PTEN Modifies Lens Postnatal Growth and Homeostasis
Cells, 2022 We have previously shown that the conditional deletion of either the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K), or its opposing phosphatase, phosphatase and tensin homolog (PTEN), had distinct effects on lens growth and homeostasis.
Caterina Sellitto +2 more
doaj +1 more source
Mouse models of colorectal cancer. [PDF]
, 2011 Colorectal cancer is one of the most common malignancies in the world. Many mouse models have been developed to evaluate features of colorectal cancer in humans. These can be grouped into genetically-engineered, chemically-induced, and inoculated models.
Koeffler, H Phillip +2 more
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