Catalogue of the Mutations of the JAG1 Gene

Most of the published data were obtain by SSCP followed by sequencing of exons with modified profile. There are now more than 226 described intragenic mutations of the JAGGED1 gene, none corresponding to the intracellular part of the protein and there is no clustering or ''hotspots.''[13] Most of the mutations (66%) introduce premature stop codon, but all kinds of mutations including total gene deletion (5%), missense (14%), and splicing (15%) have been observed.[14] A number of polymorphisms have been described and in the absence of a functional study, the distinction between missense mutations and polymorphism relies on the usual criteria. Most of the missense mutations are in the EGF-like repeats, the cysteine-rich region, or affect amino acids conserved in JAG1. JAG1 mutations are identified in roughly 70% of patients meeting the criteria for AGS, leaving 30% of patients with no detectable alteration of the coding sequence.[14,15]

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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