Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
نویسندگان
چکیده
منابع مشابه
SOS1 expression in Salicornia
The plasma membrane Na + /H + -antiporter SOS1 is essential for salt tolerance in plants. In Chapter 4, we observed a ten-fold higher constitutive expression of SOS1 in the highly salt tolerant salt-accumulating halophyte Salicornia dolichostachya in comparison with a lower inducible SOS1 expression in its glycophytic family member Spinacia oleracea. The objective of this study was to investiga...
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Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others identified SOS1 as a major gene underlying NS. Here, we explored further the spectrum of SOS1 mu...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2015
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2015.20