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Finally, we discuss the potential functional implications of the mutation and suggest future prospects to evaluate the effect of the mutated CEP63 on cellular functions.
They reported mtDNA mutations in nine tumoral mtDNAs (one mutation per patient) and, in particular, inferred pathogenic implications of the mutation A15296G in leukemia.
Analysis of the structural implications of the mutation (Fig. 7C, 1 and 2) would suggest a possible disruption of the C-terminal helix α20, resulting in a change of the secondary structure that would favour ACE shedding from its membrane-bound anchor.
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The biological implications of this mutation remain to be investigated.
There is also limited knowledge of the implications of these mutations with regard to development of severe hemolytic disease in the United States population.
Given these antecedents, the recently confirmed relevance of copy number changes as drivers of ovarian oncogenesis (TCGA, 2011) and the growing clinical implications of the BRCA1/2 mutation status, we aimed to determine how hereditary and sporadic ovarian tumours relate to genomic instability and to define common and/or distinct events occurring in the genesis and evolution of these neoplasms.
Although the implications of these mutations are provocative, it was unclear whether the mutations would impair the function of the resultant proteins.
The reader is directed to some comprehensive surveys of the studies so far that point to some possible implications of this mutation in a variety of diseases (e.g., cancer, cardiovascular disease).
The implications of these mutations are discussed using a structural model of the XPD protein.
We have deliberately not drawn implications of this mutation to clinical resistance.
To understand the structural implications of the new mutations, we built homology models of the native and mutated ACVR1 kinase domains using the closest available structure of the TGF-beta receptor (PDB code 1B6C).
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