Frizzled proteins are the principal receptors for the Wnt family of ligands. They mediate
canonical Wnt signaling together with Lrp5 and Lrp6 coreceptors. In conjunction with Celsr …

The superfamily of G protein-coupled receptors (GPCRs) contains immense structural and
functional diversity and mediates a myriad of biological processes upon activation by …

Purpose The aim of this study was to determine the diagnostic yield of whole-exome
sequencing (WES) in fetuses with ultrasound anomalies that resulted in fetal demise or …

Background Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing
disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy …

Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful
palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts …

The majority of keratinization disorders are referred to as Mendelian disorders of
cornification. This is a very broad group, clinically characterized by hyperkeratosis or visible …

The nail is a highly keratinized structure covering the tip of the digit, and considered to have
several important functions in our daily life. In recent years, as biological aspects of the nail …

Human hereditary nail disorders constitute a rare and heterogeneous group of ectodermal
dysplasias. They occur as isolated and/or syndromic ectodermal conditions where other …

Quantitative analysis of the vascular network anatomy is critical for the understanding of the
vasculature structure and function. In this study, we have combined microcomputed …

Congenital abnormalities of the nail are rare conditions that are most frequently associated
with congenital ectodermal syndromes involving several of the epidermal appendages …