Insights into the Molecular Basis of Kallman Syndrome

Kallmann syndrome (KS) consists of anosmia related to defective olfactory bulb development and hypogonadotrophic hypogonadism due to gonadotrophin-releasing hormone (GnRH) deficiency. Two genes have been identified so far: KAL-1, encoding anosmin-1, and KAL-2,encoding fibroblast growth factor receptor 1 (FGFR1). Keywords: Kallmann syndrome; hypogonadotrophic hypogonadism; anosmin-1; fibroblast growth factor receptor 1

[1]  E. Fliers,et al.  Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes , 2006, Molecular and Cellular Endocrinology.

[2]  N. Illing,et al.  Development of GnRH cells: Setting the stage for puberty , 2006, Molecular and Cellular Endocrinology.

[3]  S. Perkins,et al.  Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling. , 2005, Journal of molecular biology.

[4]  Youli Hu,et al.  Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator. , 2004, The Biochemical journal.

[5]  G. Vannelli,et al.  Anosmin-1 Modulates Fibroblast Growth Factor Receptor 1 Signaling in Human Gonadotropin-Releasing Hormone Olfactory Neuroblasts through a Heparan Sulfate-Dependent Mechanism , 2004, The Journal of Neuroscience.

[6]  O. Hobert,et al.  Differential Sulfations and Epimerization Define Heparan Sulfate Specificity in Nervous System Development , 2004, Neuron.

[7]  Mary G. Lin,et al.  FGF signaling through FGFR1 is required for olfactory bulb morphogenesis , 2003, Development.

[8]  F. Speleman,et al.  Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome , 2003, Nature Genetics.

[9]  O. Hobert,et al.  Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1 , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[10]  C. Petit,et al.  Anosmin-1, Defective in the X-Linked Form of Kallmann Syndrome, Promotes Axonal Branch Formation from Olfactory Bulb Output Neurons , 2002, Cell.

[11]  R. Quinton,et al.  GnRH neuronal development: insights into hypogonadotrophic hypogonadism , 2002, Trends in Endocrinology & Metabolism.

[12]  J. Weissenbach,et al.  The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules , 1991, Cell.

[13]  E. Maestrini,et al.  A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules , 1991, Nature.

[14]  D. Pfaff,et al.  Origin of luteinizing hormone-releasing hormone neurons , 1989, Nature.

[15]  S. Werner,et al.  Targeted expression of a dominant-negative fibroblast growth factor (FGF) receptor in gonadotropin-releasing hormone (GnRH) neurons reduces FGF responsiveness and the size of GnRH neuronal population. , 2005, Molecular endocrinology.