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
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
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
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
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
Sykiotis GP et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
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
A novel mutation of the KAL1 gene in Kallmann syndrome.
Izumi Y et al.
Endocrine Journal, 1999
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
Georgopoulos NA et al.
The Journal of Clinical Endocrinology and Metabolism, 1997