Searchable abstracts of presentations at key conferences in endocrinology

ea0008p60 | Growth and development | SFE2004

Urokinase-type plasminogen activator: a novel ligand for anosmin-1, the protein implicated in X-linked Kallmann's syndrome

#Youli|#Hu|# , #David|#Gonzalez-Martinez|# , #Soo-Hyun|#Kim|# , #Pierre|#Bouloux|#

Introduction: Loss of anosmin-1 function underlies the pathogenesis of X-linked Kallmann's syndrome (X-KS), a disorder characterized by anosmia (loss of smell) and hypogonadotrophic hypogonadism, due to olfactory bulb (OB) dysgenesis and failed migration of gonadotrophin releasing hormone (GnRH) neurons. Additional phenotypic features include bimanual synkinesis and unilateral renal agenesis. Anosmin-1 contains a whey acidic protein-like (WAP) domain and four contiguous fibron...

ea0027p18 | (1) | BSPED2011

Novel KAL1 mutations associated with septo-optic dysplasia in three female patients

McCabe Mark , Gregory Louise , Hu Youli , Thankamony Ajay , Hughes Ieuan , Townshend Sharron , Bouloux Pierre-Marc , Dattani Mehul

Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...

ea0015p108 | Cytokines and growth factors | SFEBES2008

Extracellular matrix protein anosmin-1 modulates FGFR1/FGF2/heparin complex formation

Hu Youli , Kim Soo-Hyun , Guimond Scott , Quartey-Papafio Ruby , Cadman Steven , Travers Paul , Hoheneste Erhard , Turnbull Jeremy , Bouloux Pierre

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...

ea0035oc9.1 | Reproduction | ECE2014

High frequency of FGFR1 mutations in patients with congenital hypogonadotropic hypogonadism and split hand/foot malformation

Villanueva Carine , Jacobson-Dickman Elka , Xu Cheng , Dwyer Andrew , Sykiotis Gerasimos , Tommiska Johanna , Hu Youli , Leger Juliane , Carel Jean-Claude , Gerard Marion , Polak Michel , Tiosano Dov , Drouin-Garraud Valerie , Raivio Taneli , Bouloux Pierre , Sidis Yisrael , Mohammadi Moosa , Manouvrier Sylvie , De Roux Nicolas , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is characterized by absent puberty and infertility due to a lack of GnRH secretion/action. In addition, patients exhibit variable non-reproductive phenotypes such as anosmia, cleft palate, synkinesia, and others. As many as 10% of CHH patients harbor mutations in FGFR1; this group is enriched for skeletal anomalies. We report here a novel CHH-associated skeletal phenotype, split hand/foot malformation (SHFM), ...