Biology Reference
In-Depth Information
References
1. Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK,
Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB,
Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA,
Colledge WH (2003) The GPR54 gene as a regulator of puberty. N Engl J Med
349:1614-1627
2. de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL, Milgrom E (2003) Hypogonadotropic
hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc
Natl Acad Sci USA 100:10972-10976
3. Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'rahilly S,
Aparicio SA (2005) Novel missense mutations in g protein-coupled receptor 54 in a patient
with hypogonadotropic hypogonadism. J Clin Endocrinol Metab 90:1849-1855
4. Cerrato F, Shagoury J, Kralickova M, Dwyer A, Falardeau J, Ozata M, Van Vliet G, Bouloux
P, Hall JE, Hayes FJ, Pitteloud N, Martin KA, Welt C, Seminara SB (2006) Coding sequence
analysis of GnRHR and GPR54 in patients with congenital and adult onset forms of hypogo-
nadotropic hypogonadism. Eur J Endocrinol 155:S3-S10
5. Tenenbaum-Rakover Y, Commenges-Ducos M, Iovane A, Aumas C, Admoni O, de Roux N
(2007) Neuroendocrine phenotype analysis in fi ve patients with isolated hypogonadotropic
hypogonadism due to a L102P inactivating mutation of GPR54. J Clin Endocrinol Metab
92:1137-1144
6. Nimri R, Lebenthal Y, Lazar L, Chevrier L, Phillip M, Bar M, Hernandez-Mora E, de Roux
N, Gat-Yablonski G (2011) A novel loss-of-function mutation in GPR54/KISS1R leads to
hypogonadotropic hypogonadism in a highly consanguineous family. J Clin Endocrinol
Metab 96:E536-E545
7. Lanfranco F, Gromoll J, von Eckardstein S, Herding EM, Nieschlag E, Simoni M (2005) Role
of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male
idiopathic hypogonadotropic hypogonadism. Eur J Endocrinol 153:845-852
8. Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca
BB, Kaiser UB, Latronico AC (2008) A GPR54-activating mutation in a patient with central
precocious puberty. N Engl J Med 358:709-715
9. Funes S, Hedrick JA, Vassileva G, Markowitz L, Abbondanzo S, Golovko A, Yang S,
Monsma FJ, Gustafson EL (2003) The KiSS-1 receptor GPR54 is essential for the develop-
ment of the murine reproductive system. Biochem Biophys Res Commun 312:1357-1363
10. d'Anglemont de Tassigny X, Fagg LA, Dixon JPC, Day K, Leitch HG, Hendrick AG, Zahn
D, Franceschini I, Caraty A, Carlton MBL, Aparicio SAJR, Colledge WH (2007)
Hypogonadotropic hypogonadism in mice lacking a functional Kiss1 gene. Proc Natl Acad
Sci USA 104:10714-10719
11. Lapatto R, Pallais JC, Zhang D, Chan YM, Mahan A, Cerrato F, Le WW, Hoffman GE,
Seminara SB (2007) Kiss1−/− mice exhibit more variable hypogonadism than Gpr54−/−
mice. Endocrinology 148:4927-4936
12. Topaloglu AK, Tello JA, Kotan LD, Ozbek MN, Yilmaz MB, Erdogan S, Gurbuz F, Temiz F,
Millar RP, Yuksel B (2012) Inactivating KISS1 mutation and hypogonadotropic hypogonad-
ism. N Engl J Med 366:629-635
13. Wildt L, Marshall G, Knobil E (1980) Experimental induction of puberty in the infantile
female rhesus monkey. Science 207:1373-1375
14. Loose MD, Terasawa E (1985) Pulsatile infusion of luteinizing hormone-releasing hormone
induces precocious puberty (vaginal opening and fi rst ovulation) in the immature female
guinea pig. Biol Reprod 33:1084-1093
15. Plant TM (2001) Neurobiological bases underlying the control of the onset of puberty in the
rhesus monkey: a representative higher primate. Front Neuroendocrinol 22:107-139
16. Grumbach MM, Styne DM (1998) Puberty, ontogeny, neuroendocrinology, physiology, and
disorders. In: Williams RH, Foster DW, Kroenenberg H, Larsen PR, Zorab R (eds) Williams
textbook of endocrinology, 9th edn. W.B. Saunders, Philadelphia, PA, pp 1509-1625
Search WWH ::
Custom Search