AS may also occur in the Roma population with a new mutation being found: frameshift mutation c.2604delT in the exon 20 of the SLC12A6 gene. Roma patients with probable AS should be primarily tested for this mutation.
we present the first Mexican patients with hereditary motor and sensory neuropathy with agenesis of the corpus callosum and a novel heterozygous frameshift variant c.2097du p or p.(Trp700Leufs*19) of the SLC12A6 gene
Neurodegenerative deficits in hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum are primarily caused by an axonopathy superimposed upon abnormal development affecting peripheral but also central nervous system axons all ultimately because of a genetic defect in the axonal cotransporter KCC3.
Neuropathic features of hereditary motor and sensory neuropathy/agenesis of corpus callosum in transgenic mouse lines are predominantly due to a neuronal KCC3 deficit while the auditory impairment is due to loss of non-neuronal KCC3 expression.
The Wnk3 protein isoforms have a similar effect on SLC12 cotransporters. NKCC1/2 and NCC were inhibited even in hypertonicity while KCCs were activated even in isotonic conditions.
Study identified two sites in KCC3 that are rapidly dephosphorylated in hypotonic conditions in cultured cells and human red blood cells in parallel with increased transport activity.
Using a yeast 2-hybrid it was discovered that the C-terminal domain of KCC3 that is lost in most hereditary motor and sensory neuropathy with agenesis of the corpus callosum-causing mutations directly interacts with brain-specific creatine kinase.
study provides evidence that the upstream SLC12A6 G/A promoter SNP is functional not only by changing the DNA primary structure but also by influencing the allelic epigenotype and consequently by influencing the chromatin organization
KCC3 down-regulates E-cadherin/beta-catenin complex formation by inhibiting transcription of E-cadherin gene and accelerating proteosome-dependent degradation of beta-catenin protein
KCC3 mutations in exon 22 constitute a recurrent mutation site for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) regardless of ethnic origin.
Among patients with early-stage node-negative breast cancer disease-free survival (DFS) and overall survival (OS) curves were significantly different based on IGF-1 and KCC expression.
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.