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Canavan Disease: Studies on the Knockout Mouse
2006Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia.
Stephen K. Tyring +4 more
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Fucosyltransferase-9 Knockout Mouse
2009Stage-specific embryonic antigen-1 (SSEA-1), an antigenic epitope of which was defined as a Lewis x [Lex: Galβ1–4(Fucα1–3)GlcNAc-] carbohydrate structure, is widely expressed on the surface of mammalian cells, and is considered to be involved in cell-cell interactions during embryogenesis, differentiation, and neurodevelopmental processes.
Hisashi Narimatsu, Takashi Kudo
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Respiratory survival mechanisms in acetylcholinesterase knockout mouse
European Journal of Neuroscience, 2003AbstractCholinergic neurotransmission ensures muscle contraction and plays a role in the regulation of respiratory pattern in the brainstem. Inactivation of acetylcholinesterase (AChE) by organophosphates produces respiratory failure but AChE knockout mice survive to adulthood.
Chatonnet, Fabrice +6 more
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Mouse Models: Knockouts/Knockins
2010There is an enormous initiative to establish the genetic basis for addictive disorders. While forward genetic studies focus on identification of risk factors and protective genes impacting on addictive behaviors of humans and animal models, much effort is devoted to functions of these genes and polymorphisms relevant to substance abuse in reverse ...
Wenhao Xu, Weihua Huang, Ming D. Li
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Conditional Knockout Mouse Models of Cancer
Cold Spring Harbor Protocols, 2014In 2007, three scientists, Drs. Mario R. Capecchi, Martin J. Evans, and Oliver Smithies, received the Nobel Prize in Physiology or Medicine for their contributions of introducing specific gene modifications into mice. This technology, commonly referred to as gene targeting or knockout, has proven to be a powerful means for precisely manipulating the ...
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Immunosenescence phenotypes in the telomerase knockout mouse
Springer Seminars in Immunopathology, 2002Increasing generations of the telomerase knockout mouse, Terc-/-, show severe telomere dysfunction characterized by critically short telomeres and end-to-end chromosomal fusions. These mice also suffer from various age-related diseases affecting highly proliferative tissues. Among these pathologies are a reduced proliferative capacity of B and T cells,
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Transgenic and Knockout Mouse Models
2006It is argued that the more removed the things investigated are from those about which knowledge is sought, the more susceptible to misinterpretation is the knowledge achieved. By this logic, scientific propositions pertaining to human psychiatric disorders derived from investigative contacts with mutant mice under contrived conditions deserve special ...
Linda J. Hayes, Diana Delgado
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Images in neuroscience. A mouse knockout
American Journal of Psychiatry, 1996openaire +3 more sources
The Ptentative nature of mouse knockouts
Nature Genetics, 1998Guangbin Luo +2 more
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