Citations for
1KAL3, KAL4, PROK2, PROKR2
PROK2/PROKR2 Signaling and Kallmann Syndrome.
Dodé C, Rondard P.
Front Endocrinol (Lausanne) 4:19. doi: 10.3389/fendo.2013.00019. eCollection 2013. 2013
2CDH7, FGF8, FGFR1, GNRHR, IHH1, IHH2GNRH1, KAL1, KAL1, KAL2, KAL3, KAL4, KISS1R, PCC, PROK2, PROKR2, TAC3, TACR3
Genetics basis for GnRH-dependent pubertal disorders in humans.
Silveira LF, Trarbach EB, Latronico AC.
Mol Cell Endocrinol 324(1-2):30-8. Epub 2010 Feb 25. Review.PMID: 20188792 2010
3KAL3, KAL4, PROK2, PROKR2
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N.
J Clin Endocrinol Metab 93(9):3551-9. Epub 2008 Jun 17. 2008
4FGF8, FGFR1, KAL2, KAL4
Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons.
Chung WC, Moyle SS, Tsai PS.
Endocrinology 149(10):4997-5003. Epub 2008 Jun 19. 2008
5KAL3, KAL4, PROK2, PROKR2
Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC.
J Clin Endocrinol Metab 93(10):4113-8. Epub 2008 Aug 5. 2008
6KAL4, PROK2
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Zhang C, Pignatelli D, Li JD, Raivio T, Cole LW, Plummer L, Jacobson-Dickman EE, Mellon PL, Zhou QY, Crowley WF Jr.
Proc Natl Acad Sci U S A 104(44):17447-52. Epub 2007 Oct 24. 2007
7KAL1, KAL2, KAL3, KAL4, PROK2, PROKR2
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP.
PLoS Genet 2(10):e175. Epub 2006 Sep 1. 2006