How mutant Htt leads to neurodegeneration is still under investigation, but may involve defects associated with multiple pathways [ 2].
Resistance to BRC therapy may involve defects in D2 dopamine receptor expression and possibly its posttranscriptional splicing [ 6, 7].
The results indicated that the aberrant location of Cx43 protein could be responsible for the progression of hepatocarcinogenesis, and the mechanism may involve defects of Cx genes in post-translational processing.
In high-risk neuroblastoma, resistance to apoptosis may involve several defects of the apoptotic pathway, such as over-expression of the anti-apoptotic proteins Bcl-2, Bcl-xL, and survivin [ 39], but also deregulation of the death receptor pathway with the inactivation of caspase-8 gene expression mostly by gene silencing [ 5, 6, 40].
These conditions often involve defects in chromatin organization.
The QT prolongation seen in our study is most probably the consequence of potassium ion channel alterations induced by arsenic, and may involve hERG trafficking defects.
Many 'predesigned' cutaneous flaps have been described, but use of these may involve tailoring a defect to fit a known flap.
This defect may involve an imbalance among NO, substance P, calcitonin gene-related peptide, angiotensin II, endothelin, and other vasodilatory or vasoconstrictive compounds.
Together, our data indicate that the mechanism underlying the expression of the biochemical defect may involve a compensatory response to the novel MTND1 gene mutations, promoting assembly factor up-regulation and stabilization of respiratory chain super-complexes, resulting in partial rescue of the clinical phenotype.
Presentation later in life may involve hepatic cirrhosis, cataracts, ataxia, speech defects, mental retardation and premature ovarian failure [ 2].
The defect in thalassemia may involve the β-chains of globin (β-thalassemia), the α-chains (α-thalassemia), the δ-chains (δ-thalassemia), or both δ- and β-chain synthesis.
