Endocrine Abstracts

Kallmann’s syndrome (KS) is proposed to result from disrupted migration of both olfactory sensory axons and hypothalamic gonadotrophin-releasing hormone (GnRH1) neurons during embryogenesis. KAL1 (encoding anosmin-1) and KAL2 (encoding the fibroblast growth factor receptor 1, FGFR1) are responsible for approximately 20% of KS cases, and in an ex vivo system it has been reported that anosmin-1 enhances FGFR1 signalling in a ligand (FGF)- and heparan su...

Introduction: Autosomal dominant Kallmann’s syndrome (AKS) results from mutations within the fibroblast growth factor receptor 1 (FGFR1: KAL-2). The FGFR family of tyrosine kinases are involved in a multitude of biological processes from embryogenesis to adult homeostasis. The crystal structure of FGF-FGFR-heparan sulphate (HS) ternary complex has provided a basis for understanding the way in which FGF, FGFR and HS cooperate to assist FGFR dimerization. Anosmin-1, KAL-1 g...

Introduction: Fibroblast growth factor (FGF) signalling involved in many physiological and pathophysiological processes requires the complex formation of FGF receptor, FGF and heparan sulphate, which is regulated by multiple extracellular inputs. FGFR1 as KAL-2 gene and anosmin-1, an extracellular matrix protein encoded by KAL-1 gene are associated with Kallmann syndrome characterised by anosmia and hypogonadotropic hypogonadism. Anosmin-1 induces neurite outgrowth and cytoske...