Anosmin-1
Tthe ANOS1 gene encodes a protein involved in regulation of neuron functions such as cell adhesion and axonal migration. Mutations cause x-liked recessive Kallmann syndrome.
Genetests:
Related Diseases:
References:
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Trarbach EB et al. (2006) Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
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Cariboni A et al. (2004) The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
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Söderlund D et al. (2002) Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome.
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Soussi-Yanicostas N et al. (2002) Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.
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Bülow HE et al. (2002) Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1.
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Maya-Nuñez G et al. (1998) A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.
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Rugarli EI et al. (1996) The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component.
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Soussi-Yanicostas N et al. (1996) Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.
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Legouis R et al. (1993) Characterization of the chicken and quail homologues of the human gene responsible for the X-linked Kallmann syndrome.
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10. |
Franco B et al. (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
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11. |
Legouis R et al. (1991) The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.
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Woods-Samuels P et al. (1991) Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.
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13. |
Bernatowicz LF et al. (1992) Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints.
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Incerti B et al. (1992) Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.
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15. |
Dodé C et al. (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
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Dodé C et al. (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
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Hanchate NK et al. (2012) SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
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Hardelin JP et al. (1992) X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.
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Bick D et al. (1992) Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.
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Parenti G et al. (1995) Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.
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Hardelin JP et al. (1993) Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
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Georgopoulos NA et al. (1997) Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
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Maya-Núñez G et al. (1998) Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.
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Oliveira LM et al. (2001) The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
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Massin N et al. (2003) X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.
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Sato N et al. (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.
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del Castillo I et al. (1992) Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.
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Orphanet article
Orphanet ID 122751
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NCBI article
NCBI 3730
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OMIM.ORG article
Omim 300836
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Wikipedia article
Wikipedia EN (Anosmin-1)
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Update: Aug. 14, 2020