Associated Papers
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations.
Nie M et al.
European Journal of Endocrinology, 2017
Regulation of FGF signaling: Recent insights from studying positive and negative modulators.
Korsensky L et al.
Seminars in Cell & Developmental Biology, 2016
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype.
Wang F et al.
Scientific Reports, 2015
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
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.
Hu Y et al.
Trends in Endocrinology and Metabolism: Tem, 2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.
Hu Y et al.
The Journal of Biological Chemistry, 2009
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
Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1.
Andrenacci D et al.
Bmc Genetics, 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
Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism.
González-Martínez D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
Kallmann syndrome: fibroblast growth factor signaling insufficiency?
Dodé C et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
Sato N et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
Oliveira LM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001