Associated Papers
Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.
Chu G et al.
Reproductive Biology and Endocrinology : Rb&e, 2023
ERK1/2 signaling is essential for the chemoattraction exerted by human FGF2 and human anosmin-1 on newborn rat and mouse OPCs via FGFR1.
Murcia-Belmonte V et al.
Glia, 2014
The cysteine-rich region and the whey acidic protein domain are essential for anosmin-1 biological functions.
Esteban PF et al.
Journal of Neurochemistry, 2013
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
Hu Y et al.
Molecular and Cellular Endocrinology, 2011
A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.
Zhang S et al.
Fertility and Sterility, 2011
Biochemical dissection of Anosmin-1 interaction with FGFR1 and components of the extracellular matrix.
Murcia-Belmonte V et al.
Journal of Neurochemistry, 2010
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.
Hu Y et al.
Trends in Endocrinology and Metabolism: Tem, 2010
The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.
Abreu AP et al.
Neuroendocrinology, 2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
Bianco SD et al.
Nature Reviews. Endocrinology, 2009
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.
Georgopoulos NA et al.
Fertility and Sterility, 2007
Kallmann's syndrome, a neuronal migration defect.
Cariboni A et al.
Cellular and Molecular Life Sciences : Cmls, 2006
Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.
Tsai PS et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling.
Hu Y et al.
Journal of Molecular Biology, 2005
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
Albuisson J et al.
Human Mutation, 2005
Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.
de Roux N
Hormone Research, 2005
Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator.
Hu Y et al.
The Biochemical Journal, 2004
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
Cariboni A et al.
Human Molecular Genetics, 2004
Kallmann syndrome: fibroblast growth factor signaling insufficiency?
Dodé C et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1.
Robertson A et al.
The Biochemical Journal, 2001
Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.
Izumi Y et al.
Endocrine Journal, 2001
A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.
Nagata K et al.
Journal of Human Genetics, 2000
A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome.
Jansen C et al.
Hormone Research, 2000
Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.
Canto P et al.
Journal of Andrology, 0