Background & Aims Bile acid nuclear receptor farnesoid X receptor (FXR) is a key molecular
mediator of many metabolic processes, including the regulation of bile acid, lipid and …

Craniosynostosis is a very heterogeneous group of disorders, in the etiology of which
genetics play an important role. Chromosomal alterations are important causative …

Structured Abstract Authors–Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV
The syndromic craniosynostoses, usually involving multiple sutures, are hereditary forms of …

Abstract The Saethre–Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis
syndrome with uni-or bilateral coronal synostosis and mild limb deformities. It is caused by …

Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety
of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and …

Craniosynostosis represents a defection of the skull caused by early fusion of one or more
cranial sutures. The shape alteration of the cranial vault varies, depending on the fused …

In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this
discovery, the genetic causes of the most common syndromes have been described. In …

Purpose More than 60 different mutations have been identified to be causal in syndromic
forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth …

Polysialic acid (polySia) is a unique polysaccharide that modifies neural cell adhesion
molecule (NCAM) spatiotemporally. Recently, we demonstrated that polySia functions as a …

The term craniosynostosis was first used in 1830 by Otto to describe the premature fusion of
cranial sutures (Otto, 1830). Since this first identification of craniosynostosis as a distinct …