Shahab M, Lippincott M, Chan YM, Davies A, Merino PM, Plummer L, Mericq V, Seminara S
The Journal of clinical endocrinology and metabolism
Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence. J Clin Endocrinol Metab. 2018 04 01; 103(4):1273-1276.
Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
Amiodarone and the thyroid. Endocr Pract. 1998 Jan-Feb; 4(1):48-57.
Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005 Aug; 42(8):666-72.
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Phase 2 Kp-10 for Dopamine Agonist Intolerant Hyperprolactinemia IND 74,977
Bédécarrats GY, Linher KD, Janovick JA, Beranova M, Kada F, Seminara SB, Michael Conn P, Kaiser UB
Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function. Mol Cell Endocrinol. 2003 Jul 31; 205(1-2):51-64.
Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function.
Chan YM, Lippincott MF, Kusa TO, Seminara SB
Divergent responses to kisspeptin in children with delayed puberty. JCI Insight. 2018 04 19; 3(8).
Divergent responses to kisspeptin in children with delayed puberty.
Lehman MN, Coolen LM, Steiner RA, Neal-Perry G, Wang L, Moenter SM, Moore AM, Goodman RL, Hwa-Yeo S, Padilla SL, Kauffman AS, Garcia J, Kelly MJ, Clarkson J, Radovick S, Babwah AV, Leon S, Tena-Sempere M, Comninos A, Seminara S, Dhillo WS, Levine J, Terasawa E, Negron A, Herbison AE
The 3rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field. J Neuroendocrinol. 2018 Apr 14; e12600.
The 3rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.
Terasawa E, Garcia JP, Seminara SB, Keen KL
Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates. Front Endocrinol (Lausanne). 2018; 9:148.
Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates.
Wahab F, Ullah F, Chan YM, Seminara SB, Shahab M
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
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). Horm Metab Res. 2011 Feb; 43(2):81-5.
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).
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
Proceedings of the National Academy of Sciences of the United States of America
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proc Natl Acad Sci U S A. 2011 Jul 12; 108(28):11524-9.
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Mechanisms of disease: the first kiss--a crucial role for kisspeptin-1 and its receptor, G protein coupled receptor 54, in puberty and reproduction. Nature Clin Pract Endocrinol Med. 2006; 2(6):328-334.
Mechanisms of disease: the first kiss--a crucial role for kisspeptin-1 and its receptor, G protein coupled receptor 54, in puberty and reproduction
Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest. 2007 Feb; 117(2):457-63.
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Kisspeptin and GPR54: discovery of a novel pathway in reproduction. J Neuroendocrinol. 2008 Jun; 20(6):727-31.
Kisspeptin and GPR54: discovery of a novel pathway in reproduction.
Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF, Amory JK, Pitteloud N, Seminara SB
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8.
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
Sykiotis GP, Pitteloud N, Seminara SB, Kaiser UB, Crowley WF
Deciphering genetic disease in the genomic era: the model of GnRH deficiency. Sci Transl Med. 2010 May 19; 2(32):32rv2.
Deciphering genetic disease in the genomic era: the model of GnRH deficiency.
Advances in experimental medicine and biology
Kisspeptin and clinical disorders. Adv Exp Med Biol. 2013; 784:187-99.
Cerrato F, Shagoury J, Beranova M, Dwyer A, Falardeau J, Ozata M, VanVliet G, Bouloux PM, Hall JE, Hayes FJ, Pitteloud N, Welt C, Seminara SB
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult onset forms of hypogonadotropic hypogonadism. Euro J Endocrinol. 2006; 155:S3-S10.
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult onset forms of hypogonadotropic hypogonadism
Chan YM, Fenoglio KA, Paraschos S, Muhammad L, Troester MM, Ng YT, Johnsonbaugh RE, Coons SW, Prenger EC, Kerrigan JF, Seminara SB.
Precocious puberty associated with hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFá, or KISS1. Hormone Research. 2009; (In press).
Precocious puberty associated with hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFá, or KISS1
Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley WF
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations. Endocr Rev. 2011 Apr; 32(2):225-46.
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.
Abel BS, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF, Welt CK, Hall JE
Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2013 Feb; 98(2):E206-16.
Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.
Seminara S, Stagi S, Candura L, Scrivano M, Lenzi L, Nanni L, Pagliai F, Chiarelli F
Changes of thyroid function during long-term hGH therapy in GHD children. A possible relationship with catch-up growth? Horm Metab Res. 2005 Dec; 37(12):751-6.
Changes of thyroid function during long-term hGH therapy in GHD children. A possible relationship with catch-up growth?
Chan YM, Broder-Fingert SB, Wong K, Seminara SB
Kisspeptin/Gpr54-independent GnRH activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinology. 2009; epub.
Kisspeptin/Gpr54-independent GnRH activity in Kiss1 and Gpr54 mutant mice
Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 2009 Jan; 75(1):65-71.
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab. 2010 Jun; 95(6):2857-67.
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
Garcia JP, Keen KL, Kenealy BP, Seminara SB, Terasawa E
Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty. Endocrinology. 2018 08 01; 159(8):3048-3060.
Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty.
Seminara S, Nanni L, Generoso M, Mirri S, Leonardi V, Slabadzianiuk T, Vetrano ML, Buongiorno A, Losi S, Galluzzi F
Effect of treatment with cyproterone acetate on uterine bleeding at the beginning of GnRH analogue therapy in girls with idiopathic central precocious puberty. Horm Res Paediatr. 2010; 73(5):386-9.
Effect of treatment with cyproterone acetate on uterine bleeding at the beginning of GnRH analogue therapy in girls with idiopathic central precocious puberty.
Yang JJ, Caligioni CS, Chan YM, Seminara SB
Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology. 2012 Mar; 153(3):1498-508.
Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men.
Kisspeptin and the hypothalamic control of reproduction: lessons from the human. Endocrinology. 2012 Nov; 153(11):5130-6.
Kisspeptin and the hypothalamic control of reproduction: lessons from the human.
Tusset C, Noel SD, Trarbach EB, Silveira LF, Jorge AA, Brito VN, Cukier P, Seminara SB, Mendonça BB, Kaiser UB, Latronico AC
Arquivos brasileiros de endocrinologia e metabologia
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders. Arq Bras Endocrinol Metabol. 2012 Dec; 56(9):646-52.
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.
Chan YM, Butler JP, Sidhoum VF, Pinnell NE, Seminara SB
Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle. J Clin Endocrinol Metab. 2012 Aug; 97(8):E1458-67.
Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle.
Kisspeptin and KISS1R: a critical pathway in the reproductive system. Reproduction. 2008 Sep; 136(3):295-301.
Kisspeptin and KISS1R: a critical pathway in the reproductive system.
Chan YM, Fenoglio-Simeone KA, Paraschos S, Muhammad L, Troester MM, Ng YT, Johnsonbaugh RE, Coons SW, Prenger EC, Kerrigan JF, Seminara SB
Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. Horm Res Paediatr. 2010; 73(5):312-9.
Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1.
Balasubramanian R, Dwyer A, Seminara SB, Pitteloud N, Kaiser UB, Crowley WF
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology. 2010; 92(2):81-99.
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Laisk T, Kukuškina V, Palmer D, Laber S, Chen CY, Ferreira T, Rahmioglu N, Zondervan K, Becker C, Smoller JW, Lippincott M, Salumets A, Granne I, Seminara S, Neale B, Mägi R, Lindgren CM
Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length. Hum Mol Genet. 2018 12 15; 27(24):4323-4332.
Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length.
We all remember our first kiss: kisspeptin and the male gonadal axis. J Clin Endocrinol Metab. 2005 Dec; 90(12):6738-40.
We all remember our first kiss: kisspeptin and the male gonadal axis.
Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC
A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med. 2008 Feb 14; 358(7):709-15.
A GPR54-activating mutation in a patient with central precocious puberty.
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, Pitteloud N, Hall JE
Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab. 2011 Mar; 96(3):E566-76.
Expanding the phenotype and genotype of female GnRH deficiency.
Lewkowitz-Shpuntoff HM, Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, Chan YM, Pitteloud N, Crowley WF, Balasubramanian R
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44.
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.
Physicians' Information and Education Resource (PIER)
Physicians' Information and Education Resource (PIER). 2001.
Lippincott MF, Nguyen K, Delaney A, Chan YM, Seminara SB
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. J Endocr Soc. 2018 Nov 01; 2(11):1293-1305.
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism.
Seminara SB, Acierno JS, Abdulwahid NA, Crowley WF, Margolin DH
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab. 2002 Apr; 87(4):1607-12.
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.
Acierno JS, Shagoury JK, Bo-Abbas Y, Crowley WF, Seminara SB
A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3. J Clin Endocrinol Metab. 2003 Jun; 88(6):2947-50.
A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.
Unbiased transmission of mutant alleles at the human retinoblastoma locus. Hum Genet. 1994 Jun; 93(6):629-34.
Unbiased transmission of mutant alleles at the human retinoblastoma locus.
Lack of association of hypogonadotropic genes with age at menarche: prospects for the future. J Clin Endocrinol Metab. 2008 Nov; 93(11):4224-5.
Lack of association of hypogonadotropic genes with age at menarche: prospects for the future.
Nachtigall LB, Boepple PA, Seminara SB, Khoury RH, Sluss PM, Lecain AE, Crowley WF
Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3520-5.
Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study.
Waldstreicher J, Seminara SB, Jameson JL, Geyer A, Nachtigall LB, Boepple PA, Holmes LB, Crowley WF
The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab. 1996 Dec; 81(12):4388-95.
The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.
Hypogonadotropic hypogonadism: A unique biologic opportunity. Clin Endocrinol. 1999; 51:385-386.
Hypogonadotropic hypogonadism: A unique biologic opportunity
Daniel K. Podolsky Distinguished Professor of Medicine
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
Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling. J Clin Endocrinol Metab. 2019 10 01; 104(10):4304-4318.
Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.
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
Paediatric and adult-onset male hypogonadism. Nat Rev Dis Primers. 2019 May 30; 5(1):38.
Paediatric and adult-onset male hypogonadism.
Dwyer AA, Chavan NR, Lewkowitz-Shpuntoff H, Plummer L, Hayes FJ, Seminara SB, Crowley WF, Pitteloud N, Balasubramanian R
Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History. J Clin Endocrinol Metab. 2019 08 01; 104(8):3403-3414.
Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.
Garcia JP, Keen KL, Seminara SB, Terasawa E
Role of Kisspeptin and NKB in Puberty in Nonhuman Primates: Sex Differences. Semin Reprod Med. 2019 03; 37(2):47-55.
Role of Kisspeptin and NKB in Puberty in Nonhuman Primates: Sex Differences.
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5).
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
Chan YM, Lippincott MF, Sales Barroso P, Alleyn C, Brodsky J, Granados H, Roberts SA, Sandler C, Srivatsa A, Seminara SB
Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay. J Clin Endocrinol Metab. 2020 08 01; 105(8).
Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay.
Jee YH, Won S, Lui JC, Jennings M, Whalen P, Yue S, Temnycky AG, Barnes KM, Cheetham T, Boden MG, Radovick S, Quinton R, Leschek EW, Aguilera G, Yanovski JA, Seminara SB, Crowley WF, Delaney A, Roche KW, Baron J
Genetics in medicine : official journal of the American College of Medical Genetics
DLG2 variants in patients with pubertal disorders. Genet Med. 2020 08; 22(8):1329-1337.
DLG2 variants in patients with pubertal disorders.
Xu W, Plummer L, Quinton R, Swords F, Crowley WF, Seminara SB, Balasubramanian R
Cold Spring Harbor molecular case studies
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
León S, Fergani C, Talbi R, Maguire CA, Gerutshang A, Seminara SB, Navarro VM
Tachykinin Signaling Is Required for Induction of the Preovulatory Luteinizing Hormone Surge and Normal Luteinizing Hormone Pulses. Neuroendocrinology. 2021; 111(6):542-554.
Tachykinin Signaling Is Required for Induction of the Preovulatory Luteinizing Hormone Surge and Normal Luteinizing Hormone Pulses.
Delaney A, Burkholder AB, Lavender CA, Plummer L, Mericq V, Merino PM, Quinton R, Lewis KL, Meader BN, Albano A, Shaw ND, Welt CK, Martin KA, Seminara SB, Biesecker LG, Bailey-Wilson JE, Hall JE
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. J Clin Endocrinol Metab. 2021 03 08; 106(3):e1441-e1452.
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
Towards Curative Therapies for Hypogonadotropic Diseases
Berthon A, Settas N, Delaney A, Giannakou A, Demidowich A, Faucz FR, Seminara SB, Chen ME, Stratakis CA
Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion. Hum Mol Genet. 2020 12 18; 29(20):3443-3450.
Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.
Dwyer AA, Au MG, Smith N, Plummer L, Lippincott MF, Balasubramanian R, Seminara SB
Evaluating co-created patient-facing materials to increase understanding of genetic test results. J Genet Couns. 2021 04; 30(2):598-605.
Evaluating co-created patient-facing materials to increase understanding of genetic test results.
Laisk T, Soares ALG, Ferreira T, Painter JN, Censin JC, Laber S, Bacelis J, Chen CY, Lepamets M, Lin K, Liu S, Millwood IY, Ramu A, Southcombe J, Andersen MS, Yang L, Becker CM, Børglum AD, Gordon SD, Bybjerg-Grauholm J, Helgeland Ø, Hougaard DM, Jin X, Johansson S, Juodakis J, Kartsonaki C, Kukushkina V, Lind PA, Metspalu A, Montgomery GW, Morris AP, Mors O, Mortensen PB, Njølstad PR, Nordentoft M, Nyholt DR, Lippincott M, Seminara S, Salumets A, Snieder H, Zondervan K, Werge T, Chen Z, Conrad DF, Jacobsson B, Li L, Martin NG, Neale BM, Nielsen R, Walters RG, Granne I, Medland SE, Mägi R, Lawlor DA, Lindgren CM
The genetic architecture of sporadic and multiple consecutive miscarriage. Nat Commun. 2020 11 25; 11(1):5980.
The genetic architecture of sporadic and multiple consecutive miscarriage.
Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF, Balasubramanian R
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. Genet Med. 2021 04; 23(4):629-636.
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Safety Evaluation of KP-10 (Metastin 45-54) Following once Daily Intravenous Administration for 14 Days in Dog. Int J Toxicol. 2021 Jul-Aug; 40(4):337-343.
Safety Evaluation of KP-10 (Metastin 45-54) Following once Daily Intravenous Administration for 14 Days in Dog.
The Massachusetts General Hospital Harvard Center for Reproductive Medicine
Review of human genetic and clinical studies directly relevant to GnRH signalling. J Neuroendocrinol. 2022 05; 34(5):e13080.
Review of human genetic and clinical studies directly relevant to GnRH signalling.
Hoskova K, Kayton Bryant N, Chen ME, Nachtigall LB, Lippincott MF, Balasubramanian R, Seminara SB
Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans. J Clin Endocrinol Metab. 2022 07 14; 107(8):e3515-e3525.
Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans.
Stamou MI, Brand H, Wang M, Wong I, Lippincott MF, Plummer L, Crowley WF, Talkowski M, Seminara S, Balasubramanian R
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. 2022 07 14; 107(8):2228-2242.
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R
Reproductive Phenotypes and Genotypes in Men With IHH. J Clin Endocrinol Metab. 2023 03 10; 108(4):897-908.
Reproductive Phenotypes and Genotypes in Men With IHH.
Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay. Genet Med. 2022 12; 24(12):2501-2515.
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Dwyer AA, Stamou M, McDonald IR, Anghel E, Cox KH, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study. Front Endocrinol (Lausanne). 2022; 13:1054447.
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Cassin J, Stamou MI, Keefe KW, Sung KE, Bojo CC, Tonsfeldt KJ, Rojas RA, Ferreira Lopes V, Plummer L, Salnikov KB, Keefe DL, Ozata M, Genel M, Georgopoulos NA, Hall JE, Crowley WF, Seminara SB, Mellon PL, Balasubramanian R
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms. JCI Insight. 2023 02 08; 8(3).
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
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
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003.
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty. J Clin Endocrinol Metab. 2023 11 17; 108(12):e1580-e1587.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. Genet Med. 2023 Jun; 25(6):100855.
Cho HJ, Gurbuz F, Stamou M, Kotan LD, Farmer SM, Can S, Tompkins MF, Mammadova J, Altincik SA, Gokce C, Catli G, Bugrul F, Bartlett K, Turan I, Balasubramanian R, Yuksel B, Seminara SB, Wray S, Topaloglu AK
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression. Front Endocrinol (Lausanne). 2023; 14:1203542.
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
Xu W, Plummer L, Seminara SB, Balasubramanian R, Lippincott MF
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism. Hum Genet. 2023 Nov; 142(11):1611-1619.
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.
Phase 2 Kp-10 in Patients with Hypogonadotropic Hypogonadism
Dwyer AA, McDonald IR, Cangiano B, Giovanelli L, Maione L, Silveira LFG, Raivio T, Latronico AC, Young J, Quinton R, Bonomi M, Persani L, Seminara SB, Lee CS
Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres. Lancet Diabetes Endocrinol. 2024 04; 12(4):257-266.
Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres.
Lippincott MF, Schafer EC, Hindman AA, He W, Brauner R, Delaney A, Grinspon R, Hall JE, Hirschhorn JN, McElreavey K, Palmert MR, Rey R, Seminara SB, Salem RM, Chan YM
Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. 2024 Dec 18; 110(1):e61-e67.
Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.
Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT, Erikstrup C, Jensen BA, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sorensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Hubers N, Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM
medRxiv : the preprint server for health sciences
Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum. medRxiv. 2024 Mar 20.
Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.
Stamou MI, Chiu CJ, Jadhav SV, Lopes VF, Salnikov KB, Plummer L, Lippincott MF, Lee H, Seminara SB, Balasubramanian R
Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations. J Endocr Soc. 2024 Jul 01; 8(8):bvae118.
Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.
Liu Z, Ren C, Jones W, Chen P, Seminara SB, Chan YM, Smith NF, Covey JM, Wang J, Chan KK
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats. J Chromatogr B Analyt Technol Biomed Life Sci. 2013 May 01; 926:1-8.
J Chromatogr B Analyt Technol Biomed Life Sci
LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats.
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, 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
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013 May 02; 92(5):725-43.
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
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
Redundancy in Kiss1 expression safeguards reproduction in the mouse. Endocrinology. 2013 Aug; 154(8):2784-94.
Redundancy in Kiss1 expression safeguards reproduction in the mouse.
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
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab. 2013 May; 98(5):E943-53.
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
Plummer L, Balasubramanian R, Stamou M, Campbell M, Dewan P, Bryant N, Salnikov K, Lippincott M, Seminara S
Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism. J Neuroendocrinol. 2024 10; 36(10):e13445.
Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism.
Sun B, Stamou MI, Stockman SL, Campbell MB, Plummer L, Salnikov KB, Kotan LD, Topaloglu AK, Hisama FM, Davis EE, Seminara SB, Balasubramanian R
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders. J Clin Endocrinol Metab. 2025 Mar 17; 110(4):1044-1052.
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.
Investigating incidence of Fabry disease in patients with cryptogenic/ischemic stroke
Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease. Exp Physiol. 2013 Nov; 98(11):1522-7.
Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease.
Galbiati F, Plessow F, Plummer L, Campbell MB, Nazarloo S, Carter CS, Carroll RS, Kim HK, Pereira SA, Paulis D, Davis JM, Miller KK, Kaiser UB, Seminara SB, Aulinas A, Lawson EA
Sex-dependent increases in oxytocin levels in response to intravenous kisspeptin in humans. Eur J Endocrinol. 2025 Mar 03; 192(3):K24-K29.
Sex-dependent increases in oxytocin levels in response to intravenous kisspeptin in humans.
Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT, Erikstrup C, Aagard Jensen B, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sørensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Kalantzis G, Hubers N, Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum. Nat Genet. 2025 May; 57(5):1107-1118.
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.
Rezende RC, He W, Kaisinger LR, Lerario AM, Schafer EC, Kentistou KA, Barroso PS, Andrade NLM, Dantas NCB, Costa EMF, Cellin LP, P S Quedas E, Seminara SB, Rey RA, Grinspon RP, Meriq V, Ong KK, Latronico AC, Perry JRB, Howard SR, Chan YM, Jorge AAL
Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty. Eur J Endocrinol. 2025 Mar 27; 192(4):481-490.
Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.
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
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet. 2014 Feb 15; 23(4):1013-24.
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.
Seminara S, Rapisardi G, La Cauza F, Mattei P, Donzelli G
Catch-up growth in short-at-birth NICU graduates. Horm Res. 2000; 53(3):139-43.
Catch-up growth in short-at-birth NICU graduates.
Pittari AM, Becherucci P, La Cauza F, Seminara S
[Therapy with arginine chlorohydrate in children with short constitutional stature]. Minerva Pediatr. 1993 Jan-Feb; 45(1-2):61-5.
[Therapy with arginine chlorohydrate in children with short constitutional stature].
Noel SD, Abreu AP, Xu S, Muyide T, Gianetti E, Tusset C, Carroll J, Latronico AC, Seminara SB, Carroll RS, Kaiser UB
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients. FASEB J. 2014 Apr; 28(4):1924-37.
TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.
Global Health: Increasing Contraceptive Choice for Women in Low and Middle Income Countries
Our team was selected by the Gates Foundation to participate in a Grand Challenge entitled “Accelerating Discovery of Nonhormonal Contraceptives.” The goal of this project is to develop novel non-hormonal contraceptive agents for women in low and middle income countries. Our specific project within this Grand Challenge aims to explore the genetic underpinnings of female infertility, in order to identifying molecular pathways that can be safely and effectively targeted by therapeutics to achieve a contraceptive effect. We have assembled the largest collection of DNA samples from women with unexplained infertility in the world, created a phenotypic database and performed numerous genetic analyses to identify novel genes for this condition. Interested students will work with a team of investigators, fellows, and clinical research coordinators to analyze this large data set (already assembled). Specifically, students will examine data integrity and consistency, execute queries, and perform genotype-phenotype analyses both within our database and within the Mass General Brigham biobank.
Women’s Health: From Genetic Discovery to Developing New Drugs for Reproductive Disorders
Several years ago, our team discovered that kisspeptin, a hypothalamic hormone, is a gatekeeper of human puberty and fertility. Our team is now capitalizing on this discovery by administering this hormone to patients to explore whether it can be used as a novel treatment for patients with certain reproductive disorders. Supported by multiple grants from both the NIH and the FDA, our team is actively enrolling subjects in numerous clinical protocols. Interested students will work with a team of investigators, fellows, and clinical research coordinators to analyze this data.
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
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab. 2014 Mar; 99(3):861-70.
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
Pinelli L, Elerdini N, Faith MS, Agnello D, Ambruzzi A, De Simone M, Leggeri G, Livieri C, Monetti N, Peverelli P, Salvatoni A, Seminara S, Uasone R, Pietrobelli A
Journal of pediatric endocrinology & metabolism : JPEM
Childhood obesity: results of a multicenter study of obesity treatment in Italy. J Pediatr Endocrinol Metab. 1999; 12 Suppl 3:795-9.
Childhood obesity: results of a multicenter study of obesity treatment in Italy.
Stamou MI, Chiu CJ, Jadhav SV, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study. Hum Genet. 2025 Jul; 144(7):761-773.
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
Galbiati F, Plessow F, Plummer L, Campbell MB, Nazarloo S, Carter CS, Davis JM, Miller KK, Carroll RS, Kaiser UB, Seminara SB, Aulinas A, Lawson EA
Intravenous kisspeptin 112-121 bolus does not acutely impact circulating vasopressin in humans. J Neuroendocrinol. 2026 Jan; 38(1):e70114.
Intravenous kisspeptin 112-121 bolus does not acutely impact circulating vasopressin in humans.
Fatness and fertility: which direction? J Clin Invest. 2014 Jul; 124(7):2853-4.
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
Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor. Endocrinology. 2014 Aug; 155(8):3065-78.
Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor.
Chan YM, Lippincott MF, Butler JP, Sidhoum VF, Li CX, Plummer L, Seminara SB
Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2014 Dec; 99(12):E2762-71.
Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism.
True C, Nasrin Alam S, Cox K, Chan YM, Seminara SB
Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice. Endocrinology. 2015 Apr; 156(4):1386-97.
Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice.
Navarro VM, Bosch MA, León S, Simavli S, True C, Pinilla L, Carroll RS, Seminara SB, Tena-Sempere M, Rønnekleiv OK, Kaiser UB
The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction. Endocrinology. 2015 Feb; 156(2):627-37.
The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction.
Zhu J, Choa RE, Guo MH, Plummer L, Buck C, Palmert MR, Hirschhorn JN, Seminara SB, Chan YM
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 Apr; 100(4):E646-54.
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
Rare Variants in Genes Implicated in GnRH Deficiency in Constitutional Delay of Puberty Patients
Lippincott MF, Chan YM, Delaney A, Rivera-Morales D, Butler JP, Seminara SB
Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty. J Clin Endocrinol Metab. 2016 08; 101(8):3061-9.
Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty.
SEX STEROID CONTROL OF LH AND FSH SECRETION
Harvard Reproductive Endocrine Sciences Center
Kisspeptin Physiology in Human Reproduction
Kisspeptin and Neurokinin B: Physiology in Monkey to Pathophysiology in Human
Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet. 2017 01; 54(1):19-25.
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.
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, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
The genetics of IHH--a paradox. Clin Endocrinol (Oxf). 2001 Aug; 55(2):159-60.
Pitteloud N, Hayes FJ, Boepple PA, DeCruz S, Seminara SB, MacLaughlin DT, Crowley WF
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2002 Jan; 87(1):152-60.
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.
New gatekeepers of reproduction: GPR54 and its cognate ligand, KiSS-1. Endocrinology. 2005 Apr; 146(4):1686-8.
New gatekeepers of reproduction: GPR54 and its cognate ligand, KiSS-1.
Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF, Layman LC, Jameson JL
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab. 1999 Dec; 84(12):4497-500.
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis. Endocrinology. 2001 Jun; 142(6):2173-7.
Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis.
Meysing AU, Kanasaki H, Bedecarrats GY, Acierno JS, Conn PM, Martin KA, Seminara SB, Hall JE, Crowley WF, Kaiser UB
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. J Clin Endocrinol Metab. 2004 Jul; 89(7):3189-98.
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.
Corssmit EP, Seminara SB, Pitteloud N, Fliers E
American journal of medical genetics. Part A
Kallmann syndrome in a 47,XXX patient. Am J Med Genet A. 2005 Nov 15; 139(1):52-3.
Transactions of the American Clinical and Climatological Association
New genes controlling human reproduction and how you find them. Trans Am Clin Climatol Assoc. 2008; 119:29-37; discussion 37-8.
New genes controlling human reproduction and how you find them.
Lippincott MF, Chan YM, Rivera Morales D, Seminara SB
Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion. J Clin Endocrinol Metab. 2017 06 01; 102(6):2091-2099.
Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion.
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
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. Eur J Endocrinol. 2006 Nov; 155 Suppl 1:S3-S10.
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998 Oct; 19(5):521-39.
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.
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, Pitteloud N
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A. 2010 Aug 24; 107(34):15140-4.
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
Transcript & Tutor Guide "Pumped Up". 2004.
Seminara SB, Hall JE, Taylor AE, Crowley WF, Martin KA
The Reproductive Endocrine Associates of the Massachusetts General Hospital: fifteen years of integrated clinical practice and investigation. J Clin Endocrinol Metab. 1999 Jun; 84(6):1912-8.
The Reproductive Endocrine Associates of the Massachusetts General Hospital: fifteen years of integrated clinical practice and investigation.
Hayes FJ, Seminara SB, Decruz S, Boepple PA, Crowley WF
Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback. J Clin Endocrinol Metab. 2000 Sep; 85(9):3027-35.
Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback.
Seminara SB, Oliveira LM, Beranova M, Hayes FJ, Crowley WF
Journal of endocrinological investigation
Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest. 2000 Oct; 23(9):560-5.
Genetics of hypogonadotropic hypogonadism.
Endocrinology and metabolism clinics of North America
Hypogonadotropic hypogonadism. Endocrinol Metab Clin North Am. 1998 Dec; 27(4):739-63, vii.
Chan YM, Broder-Fingert S, Wong KM, Seminara SB
Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinol. 2009 Dec; 21(12):1015-23.
Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice.
Evidence from the agonadal juvenile male rhesus monkey (Macaca mulatta) for the view that the action of neurokinin B to trigger gonadotropin-releasing hormone release is upstream from the kisspeptin receptor. Neuroendocrinology. 2011; 94(3):237-45.
Evidence from the agonadal juvenile male rhesus monkey (Macaca mulatta) for the view that the action of neurokinin B to trigger gonadotropin-releasing hormone release is upstream from the kisspeptin receptor.
Shahab M, Mastronardi C, Seminara SB, Crowley WF, Ojeda SR, Plant TM
Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates. Proc Natl Acad Sci U S A. 2005 Feb 08; 102(6):2129-34.
Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates.
Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology. 2006 Dec 12; 67(11):2066-9.
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969.
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Seminara S, Filpo A, La Cauza F, Faedda A, Miola A, Pellizzone S, Casati M, Loche S
Growth hormone binding protein activity in obese children. J Endocrinol Invest. 1998 Jul-Aug; 21(7):441-4.
Growth hormone binding protein activity in obese children.
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, Zhou QY, Pitteloud N
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab. 2008 Sep; 93(9):3551-9.
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Converging at puberty's hub. Endocrinology. 2007 Nov; 148(11):5145-6.
Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF, Vallejo M
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001 Apr; 86(4):1532-8.
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
Ramaswamy S, Seminara SB, Ali B, Ciofi P, Amin NA, Plant TM
Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus. Endocrinology. 2010 Sep; 151(9):4494-503.
Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus.
Gottsch ML, Cunningham MJ, Smith JT, Popa SM, Acohido BV, Crowley WF, Seminara S, Clifton DK, Steiner RA
A role for kisspeptins in the regulation of gonadotropin secretion in the mouse. Endocrinology. 2004 Sep; 145(9):4073-7.
A role for kisspeptins in the regulation of gonadotropin secretion in the mouse.
Reviews in endocrine & metabolic disorders
Human genetics of GPR54. Rev Endocr Metab Disord. 2007 Mar; 8(1):47-55.
Seminara S, Filpo A, Piccinini P, La Cauza F, Cappa M, Faedda A, Loche S
Growth hormone (GH) response to GH-releasing hormone in short children: lack of correlation with endogenous nocturnal GH secretion. J Endocrinol Invest. 1997 Mar; 20(3):118-21.
Growth hormone (GH) response to GH-releasing hormone in short children: lack of correlation with endogenous nocturnal GH secretion.
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, Martin KA, Hall JE, Pitteloud N
A genetic basis for functional hypothalamic amenorrhea. N Engl J Med. 2011 Jan 20; 364(3):215-25.
A genetic basis for functional hypothalamic amenorrhea.
Chan YM, Butler JP, Pinnell NE, Pralong FP, Crowley WF, Ren C, Chan KK, Seminara SB
Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011 Jun; 96(6):E908-15.
Kisspeptin resets the hypothalamic GnRH clock in men.
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency. Mol Cell Endocrinol. 2011 Oct 22; 346(1-2):29-36.
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.
Becherucci P, Seminara S, Paoletti I, Galluzzi F, Martinucci ME, Medici A, Parpagnoli M, Toni S, Bernardini S, Chiccoli A
Thyroid hormones low levels in insulin-dependent diabetic young people. J Endocrinol Invest. 1989; 12(8 Suppl 3):151-2.
Thyroid hormones low levels in insulin-dependent diabetic young people.
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
Mutations in prokineticin 2(PROK2) and PROK2 receptor (PROKR2) in human gonadotropin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab. 2008; 93(9):3551-9.
Mutations in prokineticin 2(PROK2) and PROK2 receptor (PROKR2) in human gonadotropin-releasing hormone deficiency: molecular genetics and clinical spectrum
Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. Hum Reprod. 2010 Apr; 25(4):1076-80.
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.
Seminara SB, Dipietro MJ, Ramaswamy S, Crowley WF, Plant TM
Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications. Endocrinology. 2006 May; 147(5):2122-6.
Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications.
Seminara SB, Beranova M, Oliveira LM, Martin KA, Crowley WF, Hall JE
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. J Clin Endocrinol Metab. 2000 Feb; 85(2):556-62.
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations.
Kisspeptin in reproduction. Semin Reprod Med. 2007 Sep; 25(5):337-43.
Seminara SB, Boepple PA, Nachtigall LB, Pralong FP, Khoury RH, Sluss PM, Lecain AE, Crowley WF
Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3692-6.
Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study.
Seminara S, Merello G, Masi S, Filpo A, La Cauza F, D'Onghia G, Martelli E, Loche S
Effect of long-term growth hormone treatment on carbohydrate metabolism in children with growth hormone deficiency. Clin Endocrinol (Oxf). 1998 Jul; 49(1):125-30.
Effect of long-term growth hormone treatment on carbohydrate metabolism in children with growth hormone deficiency.
Garcia JP, Guerriero KA, Keen KL, Kenealy BP, Seminara SB, Terasawa E
Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys. Endocrinology. 2017 10 01; 158(10):3269-3280.
Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys.
Lapatto R, Pallais JC, Zhang D, Chan YM, Mahan A, Cerrato F, Le WW, Hoffman GE, Seminara SB
Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology. 2007 Oct; 148(10):4927-36.
Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice.
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet. 2004; 49(5):265-8.
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion. Front Neuroendocrinol. 2005 Oct-Dec; 26(3-4):131-8.
Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion.
Ramaswamy S, Seminara SB, Pohl CR, DiPietro MJ, Crowley WF, Plant TM
Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta). Endocrinology. 2007 Jul; 148(7):3364-70.
Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta).
Teles MG, Bianco SDC, Brito VN, Trarbach E, Kuohung W, Xu S, Seminara SB, Mendonca B, Kaiser UB, Latronico AC
A GPR54 activating mutation is associated with gonadotropin dependent precocious puberty. N Engl J Med. 2008; 358(7):709-715.
A GPR54 activating mutation is associated with gonadotropin dependent precocious puberty
Hypogonadotrophic hypogonadism: a unique biological opportunity. Clin Endocrinol (Oxf). 1999 Oct; 51(4):385-6.
Hypogonadotrophic hypogonadism: a unique biological opportunity.
Hayes FJ, DeCruz S, Seminara SB, Boepple PA, Crowley WF
Differential regulation of gonadotropin secretion by testosterone in the human male: absence of a negative feedback effect of testosterone on follicle-stimulating hormone secretion. J Clin Endocrinol Metab. 2001 Jan; 86(1):53-8.
Differential regulation of gonadotropin secretion by testosterone in the human male: absence of a negative feedback effect of testosterone on follicle-stimulating hormone secretion.
Pallais JC, Bo-Abbas Y, Pitteloud N, Crowley WF, Seminara SB
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54. Mol Cell Endocrinol. 2006 Jul 25; 254-255:70-7.
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.
Pitteloud N, Meysing A, Quinton R, Acierno JS, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol. 2006 Jul 25; 254-255:60-9.
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
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, Plummer L, Seminara SB
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). J Clin Endocrinol Metab. 2012 Sep; 97(9):E1798-807.
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
Seminara S, Galluzzi F, Salti R, Generoso M, Bini A, Brocchi A, Alessandrello AL
Serum and urine somatomedin B in pediatrics. Ric Clin Lab. 1984 Jan-Mar; 14(1):41-6.
Serum and urine somatomedin B in pediatrics.
Teive HAG, Camargo CHF, Sato MT, Shiokawa N, Boguszewski CL, Raskin S, Buck C, Seminara SB, Munhoz RP
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias. Cerebellum. 2018 Jun; 17(3):380-385.
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
Hughes VA, Boepple PA, Crowley WF, Seminara SB
Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness. Neuroendocrinology. 2008; 87(3):142-50.
Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness.
Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men. Peptides. 2009 Jan; 30(1):42-8.
Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men.
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
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab. 2011 Nov; 96(11):E1771-81.
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
Bellone J, Aimaretti G, Valetto MR, Bellone S, Baffoni C, Arvat E, Seminara S, Camanni F, Ghigo E
Acute administration of recombinant human growth hormone inhibits the somatotrope responsiveness to growth hormone-releasing hormone in childhood. Eur J Endocrinol. 1996 Oct; 135(4):421-4.
Acute administration of recombinant human growth hormone inhibits the somatotrope responsiveness to growth hormone-releasing hormone in childhood.
Beranova M, Oliveira LM, Bédécarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF, Seminara SB
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2001 Apr; 86(4):1580-8.
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era. Endocr Rev. 2002 Jun; 23(3):382-92.
Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.
Bo-Abbas Y, Acierno JS, Shagoury JK, Crowley WF, Seminara SB
Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes. J Clin Endocrinol Metab. 2003 Jun; 88(6):2730-7.
Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.
Nature clinical practice. Endocrinology & metabolism
Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction. Nat Clin Pract Endocrinol Metab. 2006 Jun; 2(6):328-34.
Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction.
Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab. 1999 Dec; 84(12):4501-9.
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, 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, Aparicio SA, Colledge WH
The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27.
The GPR54 gene as a regulator of puberty.