Does expression of exon-8-skipped kindlin-1 compensate for defects of Kindler syndrome?
This study suggests that exon-8-skipped truncated kindlin-1 is functionally defective and does not compensate for the defects of KS, even though kindlin-1 expression in skin is positive.
In contrast to previous smaller, cross-sectional analyses, in this large cohort of community-dwelling men followed over 15 years, CAG repeat length was not related to the incidence or prevalence of HD or alterations in HDL. If androgens impact HD risk, this effect is unlikely to be mediated via CAG repeat length.