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Items: 1 to 50 of 101

1.

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

Dwyer AA, Chavan NR, Lewkowitz-Shpuntoff H, Plummer L, Hayes FJ, Seminara SB, Crowley WF, Pitteloud N, Balasubramanian R.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3403-3414. doi: 10.1210/jc.2018-02697.

PMID:
31220265
2.

Paediatric and adult-onset male hypogonadism.

Salonia A, Rastrelli G, Hackett G, Seminara SB, Huhtaniemi IT, Rey RA, Hellstrom WJG, Palmert MR, Corona G, Dohle GR, Khera M, Chan YM, Maggi M.

Nat Rev Dis Primers. 2019 May 30;5(1):38. doi: 10.1038/s41572-019-0087-y. Review.

PMID:
31147553
3.

Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.

Lippincott MF, León S, Chan YM, Fergani C, Talbi R, Farooqi IS, Jones CM, Arlt W, Stewart SE, Cole TR, Terasawa E, Hall JE, Shaw ND, Navarro VM, Seminara SB.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4304-4318. doi: 10.1210/jc.2019-00146.

4.

Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism.

Lippincott MF, Nguyen K, Delaney A, Chan YM, Seminara SB.

J Endocr Soc. 2018 Sep 20;2(11):1293-1305. doi: 10.1210/js.2018-00183. eCollection 2018 Nov 1.

5.

Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty.

Garcia JP, Keen KL, Kenealy BP, Seminara SB, Terasawa E.

Endocrinology. 2018 Aug 1;159(8):3048-3060. doi: 10.1210/en.2018-00443.

6.

Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates.

Terasawa E, Garcia JP, Seminara SB, Keen KL.

Front Endocrinol (Lausanne). 2018 Apr 6;9:148. doi: 10.3389/fendo.2018.00148. eCollection 2018. Review.

7.

Divergent responses to kisspeptin in children with delayed puberty.

Chan YM, Lippincott MF, Kusa TO, Seminara SB.

JCI Insight. 2018 Apr 19;3(8). pii: 99109. doi: 10.1172/jci.insight.99109. eCollection 2018 Apr 19.

8.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Teive HAG, Camargo CHF, Sato MT, Shiokawa N, Boguszewski CL, Raskin S, Buck C, Seminara SB, Munhoz RP.

Cerebellum. 2018 Jun;17(3):380-385. doi: 10.1007/s12311-017-0909-y.

9.

Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys.

Garcia JP, Guerriero KA, Keen KL, Kenealy BP, Seminara SB, Terasawa E.

Endocrinology. 2017 Oct 1;158(10):3269-3280. doi: 10.1210/en.2017-00500.

10.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
11.

Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion.

Lippincott MF, Chan YM, Rivera Morales D, Seminara SB.

J Clin Endocrinol Metab. 2017 Jun 1;102(6):2091-2099. doi: 10.1210/jc.2016-3952.

12.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

13.

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB.

J Med Genet. 2017 Jan;54(1):19-25. doi: 10.1136/jmedgenet-2016-104064. Epub 2016 Aug 10.

14.

Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty.

Lippincott MF, Chan YM, Delaney A, Rivera-Morales D, Butler JP, Seminara SB.

J Clin Endocrinol Metab. 2016 Aug;101(8):3061-9. doi: 10.1210/jc.2016-1545. Epub 2016 May 23.

15.

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.

Zhu J, Choa RE, Guo MH, Plummer L, Buck C, Palmert MR, Hirschhorn JN, Seminara SB, Chan YM.

J Clin Endocrinol Metab. 2015 Apr;100(4):E646-54. doi: 10.1210/jc.2015-1080. Epub 2015 Jan 30.

16.

Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice.

True C, Nasrin Alam S, Cox K, Chan YM, Seminara SB.

Endocrinology. 2015 Apr;156(4):1386-97. doi: 10.1210/en.2014-1862. Epub 2015 Jan 9.

17.

The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction.

Navarro VM, Bosch MA, León S, Simavli S, True C, Pinilla L, Carroll RS, Seminara SB, Tena-Sempere M, Rønnekleiv OK, Kaiser UB.

Endocrinology. 2015 Feb;156(2):627-37. doi: 10.1210/en.2014-1651. Epub 2014 Nov 25.

18.

Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism.

Chan YM, Lippincott MF, Butler JP, Sidhoum VF, Li CX, Plummer L, Seminara SB.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2762-71. doi: 10.1210/jc.2014-2233.

19.

Fatness and fertility: which direction?

Seminara SB.

J Clin Invest. 2014 Jul;124(7):2853-4. doi: 10.1172/JCI76623. Epub 2014 Jun 17.

20.

Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor.

Calder M, Chan YM, Raj R, Pampillo M, Elbert A, Noonan M, Gillio-Meina C, Caligioni C, Bérubé NG, Bhattacharya M, Watson AJ, Seminara SB, Babwah AV.

Endocrinology. 2014 Aug;155(8):3065-78. doi: 10.1210/en.2013-1916. Epub 2014 May 30.

21.

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB.

J Clin Endocrinol Metab. 2014 Mar;99(3):861-70. doi: 10.1210/jc.2013-2809. Epub 2013 Jan 1.

22.

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

Noel SD, Abreu AP, Xu S, Muyide T, Gianetti E, Tusset C, Carroll J, Latronico AC, Seminara SB, Carroll RS, Kaiser UB.

FASEB J. 2014 Apr;28(4):1924-37. doi: 10.1096/fj.13-240630. Epub 2013 Dec 27.

23.

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Shi CH, Schisler JC, Rubel CE, Tan S, Song B, McDonough H, Xu L, Portbury AL, Mao CY, True C, Wang RH, Wang QZ, Sun SL, Seminara SB, Patterson C, Xu YM.

Hum Mol Genet. 2014 Feb 15;23(4):1013-24. doi: 10.1093/hmg/ddt497. Epub 2013 Oct 9.

24.

Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease.

Lippincott MF, True C, Seminara SB.

Exp Physiol. 2013 Nov;98(11):1522-7. doi: 10.1113/expphysiol.2013.071910. Epub 2013 Aug 16. Review.

25.

Redundancy in Kiss1 expression safeguards reproduction in the mouse.

Popa SM, Moriyama RM, Caligioni CS, Yang JJ, Cho CM, Concepcion TL, Oakley AE, Lee IH, Sanz E, Amieux PS, Caraty A, Palmiter RD, Navarro VM, Chan YM, Seminara SB, Clifton DK, Steiner RA.

Endocrinology. 2013 Aug;154(8):2784-94. doi: 10.1210/en.2013-1222. Epub 2013 Jun 4.

26.

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB.

N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8.

27.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N.

Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.

28.

Kisspeptin and clinical disorders.

Silveira LG, Latronico AC, Seminara SB.

Adv Exp Med Biol. 2013;784:187-99. doi: 10.1007/978-1-4614-6199-9_9. Review.

29.

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr.

J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.

30.

LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats.

Liu Z, Ren C, Jones W, Chen P, Seminara SB, Chan YM, Smith NF, Covey JM, Wang J, Chan KK.

J Chromatogr B Analyt Technol Biomed Life Sci. 2013 May 1;926:1-8. doi: 10.1016/j.jchromb.2013.02.027. Epub 2013 Mar 4.

31.

Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.

Abel BS, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF Jr, Welt CK, Hall JE.

J Clin Endocrinol Metab. 2013 Feb;98(2):E206-16. doi: 10.1210/jc.2012-3294. Epub 2013 Jan 22.

32.

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.

Tusset C, Noel SD, Trarbach EB, Silveira LF, Jorge AA, Brito VN, Cukier P, Seminara SB, Mendonça BB, Kaiser UB, Latronico AC.

Arq Bras Endocrinol Metabol. 2012 Dec;56(9):646-52.

33.

Kisspeptin and the hypothalamic control of reproduction: lessons from the human.

George JT, Seminara SB.

Endocrinology. 2012 Nov;153(11):5130-6. doi: 10.1210/en.2012-1429. Epub 2012 Sep 26. Review.

34.

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

Gianetti E, Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Metzger DL, Pitteloud N, Mericq V, Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto VY, Dluhy RG, Chase ML, Crowley WF Jr, Plummer L, Seminara SB.

J Clin Endocrinol Metab. 2012 Sep;97(9):E1798-807. doi: 10.1210/jc.2012-1264. Epub 2012 Jun 28.

35.

Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle.

Chan YM, Butler JP, Sidhoum VF, Pinnell NE, Seminara SB.

J Clin Endocrinol Metab. 2012 Aug;97(8):E1458-67. doi: 10.1210/jc.2012-1282. Epub 2012 May 10.

36.

Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men.

Yang JJ, Caligioni CS, Chan YM, Seminara SB.

Endocrinology. 2012 Mar;153(3):1498-508. doi: 10.1210/en.2011-1949. Epub 2012 Jan 17.

37.

Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

Lewkowitz-Shpuntoff HM, Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, Chan YM, Pitteloud N, Crowley WF Jr, Balasubramanian R.

J Clin Endocrinol Metab. 2012 Jan;97(1):E136-44. doi: 10.1210/jc.2011-2041. Epub 2011 Nov 9.

38.

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

Chan YM, Broder-Fingert S, Paraschos S, Lapatto R, Au M, Hughes V, Bianco SD, Min L, Plummer L, Cerrato F, De Guillebon A, Wu IH, Wahab F, Dwyer A, Kirsch S, Quinton R, Cheetham T, Ozata M, Ten S, Chanoine JP, Pitteloud N, Martin KA, Schiffmann R, Van der Kamp HJ, Nader S, Hall JE, Kaiser UB, Seminara SB.

J Clin Endocrinol Metab. 2011 Nov;96(11):E1771-81. doi: 10.1210/jc.2011-0518. Epub 2011 Aug 31.

40.

The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.

Wahab F, Quinton R, Seminara SB.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):29-36. doi: 10.1016/j.mce.2011.05.043. Epub 2011 Jun 17. Review.

41.

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bülow HE.

Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11524-9. doi: 10.1073/pnas.1102284108. Epub 2011 Jun 23.

42.

Kisspeptin resets the hypothalamic GnRH clock in men.

Chan YM, Butler JP, Pinnell NE, Pralong FP, Crowley WF Jr, Ren C, Chan KK, Seminara SB.

J Clin Endocrinol Metab. 2011 Jun;96(6):E908-15. doi: 10.1210/jc.2010-3046. Epub 2011 Apr 6.

43.

A genetic basis for functional hypothalamic amenorrhea.

Caronia LM, Martin C, Welt CK, Sykiotis GP, Quinton R, Thambundit A, Avbelj M, Dhruvakumar S, Plummer L, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF Jr, Martin KA, Hall JE, Pitteloud N.

N Engl J Med. 2011 Jan 20;364(3):215-25. doi: 10.1056/NEJMoa0911064.

44.

Expanding the phenotype and genotype of female GnRH deficiency.

Shaw ND, Seminara SB, Welt CK, Au MG, Plummer L, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF Jr, Pitteloud N, Hall JE.

J Clin Endocrinol Metab. 2011 Mar;96(3):E566-76. doi: 10.1210/jc.2010-2292. Epub 2011 Jan 5.

45.

Decrease in hypothalamic Kiss1 and Kiss1r expression: a potential mechanism for fasting-induced suppression of the HPG axis in the adult male rhesus monkey (Macaca mulatta).

Wahab F, Ullah F, Chan YM, Seminara SB, Shahab M.

Horm Metab Res. 2011 Feb;43(2):81-5. doi: 10.1055/s-0030-1269852. Epub 2010 Dec 10.

46.

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley WF Jr.

Endocr Rev. 2011 Apr;32(2):225-46. doi: 10.1210/er.2010-0007. Epub 2010 Oct 29. Review.

47.

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF Jr, Pitteloud N.

Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15140-4. doi: 10.1073/pnas.1009622107. Epub 2010 Aug 9.

48.

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.

Balasubramanian R, Dwyer A, Seminara SB, Pitteloud N, Kaiser UB, Crowley WF Jr.

Neuroendocrinology. 2010;92(2):81-99. doi: 10.1159/000314193. Epub 2010 Jul 7. Review.

49.

Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus.

Ramaswamy S, Seminara SB, Ali B, Ciofi P, Amin NA, Plant TM.

Endocrinology. 2010 Sep;151(9):4494-503. doi: 10.1210/en.2010-0223. Epub 2010 Jun 23.

50.

Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

Sykiotis GP, Pitteloud N, Seminara SB, Kaiser UB, Crowley WF Jr.

Sci Transl Med. 2010 May 19;2(32):32rv2. doi: 10.1126/scitranslmed.3000288. Review.

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