KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development
References (22)
- et al.
Anal. Biochem.
(1987) - et al.
Cell
(1988) - et al.
Cell
(1991) - et al.
Mol. Brain Res.
(1989) - et al.
J. Endocrinol.
(1992) - et al.
Ann. Neurol.
(1991) - et al.
Clin. Invest.
(1994) - et al.
Nature
(1991) - et al.
J Clin. Endocrinol. Metab.
(1993) - et al.
Exp. Nephrol.
(1994)
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Physiologic and Pathophysiologic Alterations of the Neuroendocrine Components of the Reproductive Axis
2019, Yen & Jaffe's Reproductive Endocrinology: Physiology, Pathophysiology, and Clinical Management: Eighth EditionRegulation of FGF signaling: Recent insights from studying positive and negative modulators
2016, Seminars in Cell and Developmental BiologyCitation Excerpt :KAL-1 gene product, anosmin-1 (An1), is a modular glycoprotein comprised of 680 amino acids [71,72]. An1 expression during embryonic development has been detected at various brain sites including the OB and the cerebellum, as well as other sites such as spinal cord, inner ear and kidney [73,74,76,78,79]. From the amino-terminus to the carboxy-terminal end, An1 contains a signal sequence, cysteine rich region (CR), whey acidic protein domain (WAP) and fibronectin (Fn) type III repeats whose number varies among species, with human An1 having 4 repeats [FnIII.1-FnIII.4, Fig. 1A].
Male endocrine dysfunction
2014, Urologic Clinics of North AmericaCitation Excerpt :Hypogonadotropic hypogonadism can be caused by Kallman syndrome, or congenital hypogonadotropic hypogonadism, or idiopathic hypogonadotropic hypogonadism (IHH). Kallman syndrome may be inherited as an X-linked, autosomal dominant, or autosomal recessive disorder.44 Kallman syndrome may be diagnosed with delayed puberty, whereas in IHH, puberty may have occurred as a result of sufficient stimulation of testicular maturation.
Physiological and Pathophysiological Alterations of the Neuroendocrine Components of the Reproductive Axis
2013, Yen and Jaffe's Reproductive Endocrinology: Seventh EditionX-linked GnRH deficiency: Role of KAL-1 mutations in GnRH deficiency
2011, Molecular and Cellular EndocrinologyCitation Excerpt :KAL-1 expression appears to be independent of this axonal innervation, since chick kal expression is maintained in the area of the OB even when the olfactory placode has been ablated (Lutz et al., 1994). In humans, KAL-1 mRNA is detected at low level in the spinal cord at 45 days gestation, the development stage when corticospinal axons arrive at their decussation point in the lower medulla oblongata (Duke et al., 1995). In GnRH-expressing neurons, KAL-1 transcripts and anosmin-1 have not been identified but detected in the nerve fibres and migratory pathways, in close association with GnRH neurons.
Genetics basis for GnRH-dependent pubertal disorders in humans
2010, Molecular and Cellular Endocrinology