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In humans, PAFAH1B3 hemizygousity is associated with mental retardation and ataxia [18], suggesting that the catalytic subunits of Pafah1b may be important for brain development or function.
Whereas the 1p36 region contains many genes that have been implicated in brain development or function (Table 1), some phenotypes presumably result from a combination of gene deficiencies.
Splicing regulators generally control large numbers of target transcripts and several have been shown to be essential for proper brain development or function (Jensen et al., 2000; Gehman et al., 2011, 2012; Yano et al., 2010; Iijima et al., 2011; Charizanis et al., 2012; Ince-Dunn et al., 2012).
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A specific role in brain development or functioning has not been reported for either of these genes, though.
Mental retardation observed in Cohen syndrome suggests that VPS13B plays a role in brain development or maintaining brain function in humans.
In summary, our behavioral results from NRG1-Tg mice and previous findings on NRG1 knockout mice highlight the complex dose dependency of NRG1 functioning in brain development or behavioral regulation.
An advantage of genetic models such as FORKO is the ability to recapitulate specific physiological mechanisms involved in human reproductive aging; however, limitations such as potential effects of the mutation on brain development and function could introduce confounds or constrain study interpretations.
These genes may act indirectly (for example through influencing gonadal hormone secretion), or directly, to influence brain development and function.
However, the incidence of aneuploidy in the developing human brain and its impact on the brain development and function are obscure.
Although the cells involved are normally important for proper brain development and function, it's not clear whether this inflammation is a cause--or a result--of autism.
If dysregulated by the t(1 11) translocation through the disruption of DISC1, it is conceivable that any or all of these processes could contribute to abnormal brain development and function, thereby triggering psychiatric illness.
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