Cell
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
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Cited by (648)
Anosmin 1 N-terminal domains modulate prokineticin receptor 2 activation by prokineticin 2
2022, Cellular SignallingOf mice and men – and guinea pigs?
2021, Annals of AnatomyCitation Excerpt :In humans, ANOS1 is located on the short arm of the X-chromosome (Xp22.3) and encodes for an extracellular matrix glycoprotein ANOSMIN-1. The structure has parallels to neuronal cell adhesion molecules and serine protease inhibitors (Franco et al., 1991; Legouis et al., 1991). The phenotype of Kallmann syndrome has two main characteristics, (a) anosmia, the inability to smell, and (b) hypogonadotropic hypogonadism (Kallmann et al., 1944).
Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling
2021, Molecular and Cellular EndocrinologyCitation Excerpt :It stands to reason that pathogenic variants in a gene encoding a ligand and its receptor could lead to a similar phenotype. For example, protein products of ANOS1(Legouis et al. 1991; Franco et al. 1991) and FGF8(Falardeau et al. 2008) both bind to the FGFR1 protein and utilize heparan sulfate (involving a sulfotransferase gene--HS6ST1(Tornberg et al. 2011)). Pathogenic variants in other FGF pathway genes have also been substantiated in patients in nHH/KS, including FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 (Miraoui et al., 2013), as well as FGF8(Falardeau et al. 2008) (Table 2).
Roles of glycoconjugates in neural patterning in C. elegans
2021, Current Topics in Developmental BiologyThe role of non-neuronal cells in hypogonadotropic hypogonadism
2020, Molecular and Cellular Endocrinology