| 1 | KAL3, PROKR2
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| A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
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| Wang X, Chen D, Zhao Y, Men M, Chen Z, Jiang F, Zheng R, Stamou MI, Plummer L, Balasubramanian R, Li JD.
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| Hum Mol Genet. May 5;32(10):1722-1729. doi: 10.1093/hmg/ddad014. 2023
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| 2 | KAL3, PROKR2
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| Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
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| Sugisawa C, Taniyama M, Sato T, Takahashi Y, Hasegawa T, Narumi S.
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| Endocr J. Jul 28;69(7):831-838. doi: 10.1507/endocrj.EJ21-0779. Epub 2022 Mar 2. 2022
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| 3 | KAL3, PROKR2
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| Trafficking-defective mutant PROKR2 cycles between endoplasmic reticulum and Golgi to attenuate endoplasmic reticulum stress.
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| Song YB, Park SY, Park K, Hwang H, Carroll RS, Hsu VW, Kaiser UB.
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| Proc Natl Acad Sci U S A. Feb 22;119(8):e2102248119. doi: 10.1073/pnas.2102248119. 2022
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| 4 | KAL3, PROKR2
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| Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.
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| Sbai O, Monnier C, Dodé C, Pin JP, Hardelin JP, Rondard P.
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| FASEB J 28(8):3734-44. doi: 10.1096/fj.13-243402. Epub 2014 May 15.
2014
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| 5 | KAL3, PROKR2
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| Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.
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| Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M; Italian Study Group on Idiopathic Central Hypogonadism (ICH).
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| J Clin Endocrinol Metab 99(3):E458-63. doi: 10.1210/jc.2013-2431. Epub 2013 Nov 25.
2014
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| 6 | KAL3, KAL4, PROK2, PROKR2
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| PROK2/PROKR2 Signaling and Kallmann Syndrome.
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| Dodé C, Rondard P.
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| Front Endocrinol (Lausanne) 4:19. doi: 10.3389/fendo.2013.00019. eCollection 2013.
2013
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| 7 | CDH7, FGF8, FGFR1, GNRHR, IHH1, IHH2GNRH1, KAL1, KAL1, KAL2, KAL3, KAL4, KISS1R, PCC, PROK2, PROKR2, TAC3, TACR3
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| Genetics basis for GnRH-dependent pubertal disorders in humans.
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| Silveira LF, Trarbach EB, Latronico AC.
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| Mol Cell Endocrinol 324(1-2):30-8. Epub 2010 Feb 25. Review.PMID: 20188792 2010
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| 8 | KAL3, PROKR2
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| PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.
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| Monnier C, Dodé C, Fabre L, Teixeira L, Labesse G, Pin JP, Hardelin JP, Rondard P.
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| Hum Mol Genet 18(1):75-81. Epub 2008 Sep 29.
2009
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| 9 | KAL3, KAL4, PROK2, PROKR2
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| Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
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| 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.
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| J Clin Endocrinol Metab 93(9):3551-9. Epub 2008 Jun 17.
2008
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| 10 | KAL3, KAL4, PROK2, PROKR2
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| Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
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| Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC.
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| J Clin Endocrinol Metab 93(10):4113-8. Epub 2008 Aug 5.
2008
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| 11 | KAL1, KAL2, KAL3, KAL4, PROK2, PROKR2
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| Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
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| 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.
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| PLoS Genet 2(10):e175. Epub 2006 Sep 1. 2006
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