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
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype.
Wang F et al.
Scientific Reports, 2015
Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.
Ahmadzadeh A et al.
International Journal of Molecular and Cellular Medicine, 2015
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
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
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
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