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Given that the top ranked genes were sequenced and found not to harbor any putative coding variants of interest, we moved on to extend our gene list to include those DEGs that have been implicated in abnormalities that are also found in microtia-associated syndromes.
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Genetically determined alterations in dopamine release and dopamine receptor expression in mice have been implicated in behavioral abnormalities induced by chronic stress [ 63].
DBP exposure has been implicated in reproductive abnormalities, and earlier human studies have found associations between DBPs and adverse pregnancy outcomes.
Although all dystrophin isoforms have been detected in the nervous system (Lidov, 1996; Tozawa et al., 2012), only Dp140 and Dp71 have been implicated in neuronal abnormalities in humans with DMD (Bardoni et al., 2000; Bardoni et al., 1999; Daoud et al., 2009a; Daoud et al., 2009b; Felisari et al., 2000; Moizard et al., 1998; Moizard et al., 2000; Pane et al., 2012; Taylor et al., 2010).
Human chromosomal fragile sites are regions of the genome especially prone to breakage, and have been implicated in various chromosome abnormalities found in cancer.
miRNAs have been implicated in a number of abnormalities that often show co-morbidity with FASD, including anxiety, depression and other psychiatric disorders (O'Connor et al., 2012).
The RVOT has thus been implicated in both the electrocardiographical abnormalities and the delayed epicardial conduction associated with potentially fatal ventricular arrhythmia in BrS (Berruezo et al. 2004, Morita et al. 2008) in a depolarization disorder hypothesis (Kasanuki et al. 1997, Tukkie et al. 2004, Coronel et al. 2005, Meregalli et al. 2005, Postema et al. 2008).
Many homeodomain proteins are transcription factors with important roles in embryonic patterning and cell differentiation, and several have been implicated in human diseases and congenital abnormalities [ 3].
The organism that causes mono, Epstein Barr, has been implicated in a few reports of fetal abnormalities, though this is a very rare complication.
Background: Serotonergic system abnormalities have been implicated in the pathogenesis of bipolar affective disorders.
Ceruloplasmin abnormalities have been implicated in schizophrenia, even the nature of relationship remains unclear.
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