The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
The GPR54 Gene as a Regulator of Puberty
Open accessAbstract
BACKGROUND: Puberty, a complex biologic process involving sexual development, accelerated linear growth, and adrenal maturation, is initiated when gonadotropin-releasing hormone begins to be secreted by the hypothalamus. We conducted studies in humans and mice to identify the genetic factors that determine the onset of puberty. METHODS: We used complementary genetic approaches in humans and in mice. A consanguineous family with members who lacked pubertal development (idiopathic hypogonadotropic hypogonadism) was examined for mutations in a candidate gene, GPR54, which encodes a G protein-coupled receptor. Functional differences between wild-type and mutant GPR54 were examined in vitro. In parallel, a Gpr54-deficient mouse model was created and phenotyped. Responsiveness to exogenous gonadotropin-releasing hormone was assessed in both the humans and the mice. RESULTS: Affected patients in the index pedigree were homozygous for an L148S mutation in GPR54, and an unrelated proband with idiopathic hypogonadotropic hypogonadism was determined to have two separate mutations, R331X and X399R. The in vitro transfection of COS-7 cells with mutant constructs demonstrated a significantly decreased accumulation of inositol phosphate. The patient carrying the compound heterozygous mutations (R331X and X399R) had attenuated secretion of endogenous gonadotropin-releasing hormone and a left-shifted dose-response curve for gonadotropin-releasing hormone as compared with six patients who had idiopathic hypogonadotropic hypogonadism without GPR54 mutations. The Gpr54-deficient mice had isolated hypogonadotropic hypogonadism (small testes in male mice and a delay in vaginal opening and an absence of follicular maturation in female mice), but they showed responsiveness to both exogenous gonadotropins and gonadotropin-releasing hormone and had normal levels of gonadotropin-releasing hormone in the hypothalamus. CONCLUSIONS: Mutations in GPR54, a G protein-coupled receptor gene, cause autosomal recessive idiopathic hypogonadotropic hypogonadism in humans and mice, suggesting that this receptor is essential for normal gonadotropin-releasing hormone physiology and for puberty.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“loss-of-function mutations in the kisspeptin receptor cause GnRH deficiency in humans and mice (16-18).”
From Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans (2022) · cites this paper as [17]
In the citing paper
“both humans and rodents with inactivating mutations in kisspeptin or its receptor fail to progress through puberty or show normal pulsatile LH secretion (Seminara et al., 2003;de Roux et al., 2003;Kaiser, 2015).”
From The Origin of GnRH Pulse Generation: An Integrative Mathematical-Experimental Approach (2019) · cites this paper as Seminara et al., 2003
In the citing paper
“The discovery of the kisspeptin system as a crucial component for pubertal activation of the hypothalamic-pituitary-gonadal axis occurred in 2003, when loss-of-function mutations of the KISS1R (previously known as GPR54) gene were identified in individuals with isolated hypogonadotropic hypogonadism, establishing KISS1R inactivation as a cause of this disorder (table, figure 2).42,43”
From Pubertal development and regulation (2016) · cites this paper as [43]
In the citing paper
“Two of the most important excitatory components of the GnRH network were identified with the demonstration that the genetic loss of such inputs results in failure to initiate the GnRH pulse generator at the expected time of puberty, resulting in isolated hypogonadotropic hypogonadism.42–45”
From Pubertal development and regulation (2016) · cites this paper as [43]
In the citing paper
“Although studies in animals have led to identification of regulators of GnRH such as catecholamines, GABA, and glutamate, genetic studies of patients with pubertal disorders have resulted in the identification of a major regulatory hub for the GnRH neurons—ie, the hypothalamic neurons expressing kisspeptin and neurokinin B.42–44”
From Pubertal development and regulation (2016) · cites this paper as [43]
In the citing paper
“Accordingly, in vitro studies showed impaired function of both the Arg331X and X399Arg mutant KiSS-1 receptors.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [35]
In the citing paper
“Kiss1r−/− mice have underdeveloped gonads, low gonadotropins and steroid hormone levels, and incomplete gametogenesis.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [35]
In the citing paper
“The reproductive roles of the G-protein-coupled KiSS-1 receptor (also known as GPR54, encoded by KISS1R) and its endogenous ligand, kisspeptin 1 (encoded by KISS1) were revealed in 2003 when inactivating mutations in the KiSS-1 receptor were found in the homozygous state in members of two large, consanguineous families with a history of normosmic IHH.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [35]
Citations
Cites
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
de Roux, N., Genin, E., Carel, J.-C., Matsuda, F., Chaussain, J.-L., & Milgrom, E. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1834399100 · Cited by 2,431
Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes
Aparicio, S., Chapman, J., Stupka, E., Putnam, N., Chia, J.-M., Dehal, P., Christoffels, A., Rash, S., Hoon, S., Smit, A., et al. (2002) · Science · doi:10.1126/science.1072104 · Cited by 1,591
Self-citationKotani, M., Detheux, M., Vandenbogaerde, A., Communi, D., Vanderwinden, J.-M., Le Poul, E., Brézillon, S., Tyldesley, R., Suarez-Huerta, N., Vandeput, F., et al. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m104847200 · Cited by 1,546
Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor
Ohtaki, T., Shintani, Y., Honda, S., Matsumoto, H., Hori, A., Kanehashi, K., Terao, Y., Kumano, S., Takatsu, Y., Masuda, Y., et al. (2001) · Nature · doi:10.1038/35079135 · Cited by 1,447
KiSS-1, a Novel Human Malignant Melanoma Metastasis-Suppressor Gene
Lee, J.-H., Miele, M. E., Hicks, D. J., Phillips, K. K., Trent, J. M., Weissman, B. E., & Welch, D. R. (1996) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/88.23.1731 · Cited by 1,072
AXOR12, a Novel Human G Protein-coupled Receptor, Activated by the Peptide KiSS-1
Muir, A. I., Chamberlain, L., Elshourbagy, N. A., Michalovich, D., Moore, D. J., Calamari, A., Szekeres, P. G., Sarau, H. M., Chambers, J. K., Murdock, P. R., et al. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m102743200 · Cited by 906
Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., et al. (1991) · Nature · doi:10.1038/353529a0 · Cited by 846
Santen, R. J., & Bardin, C. W. (1973) · Journal of Clinical Investigation · doi:10.1172/jci107454 · Cited by 706
Legouis, R., Hardelin, J.-P., Levilliers, J., Claverie, J.-M., Compain, S., Wunderle, V., Millasseau, P., Le Paslier, D., Cohen, D., & Caterina, D. (1991) · Cell · doi:10.1016/0092-8674(91)90193-3 · Cited by 678
Exosome-Mediated Recognition and Degradation of mRNAs Lacking a Termination Codon
van Hoof, A., Frischmeyer, P. A., Dietz, H. C., & Parker, R. (2002) · Science · doi:10.1126/science.1067272 · Cited by 592
Research works printed but not linked: 3
- 10.1210/en.136.8.3452 · DOI
- Spratt DI, 1988, Am J Physiol, 254, E658
- Lee JH, 1997, Cancer Res, 57, 2384
Cited by
Sorted by citations
Items 901–1,000 of 1,009
Thayil, A. J., Wang, X., Bhandari, P., Saal, F. S. V., Tillitt, D. E., & Bhandari, R. K. (2020) · Biology of Reproduction · doi:10.1093/biolre/ioaa169 · Cited by 46
Arai, A., Xia, Y., Suzuki, É., Kessler, M., Civelli, O., & Nothacker, H. (2005) · Journal of Neurophysiology · doi:10.1152/jn.00590.2005 · Cited by 43
Afferent Neuronal Control of Type-I Gonadotropin Releasing Hormone Neurons in the Human
Hrabovszky, E., & Liposits, Z. (2013) · Frontiers in Endocrinology · doi:10.3389/fendo.2013.00130 · Cited by 44
Congenital hypogonadotropic hypogonadism in females: Clinical spectrum, evaluation and genetics
Bry‐Gauillard, H., Trabado, S., Bouligand, J., Sarfati, J., Francou, B., Salenave, S., Chanson, P., Brailly‐Tabard, S., Guiochon‐Mantel, A., & Young, J. (2010) · Annales d Endocrinologie · doi:10.1016/j.ando.2010.02.024 · Cited by 43
Alves, B. R. C., Cardoso, R. C., Prezotto, L. D., Thorson, J. F., Bedenbaugh, M. N., Sharpton, S. M., Caraty, A., Keisler, D. H., Tedeschi, L. O., Williams, G. L., et al. (2014) · Biology of Reproduction · doi:10.1095/biolreprod.114.124636 · Cited by 45
Li, X., Hou, M., Zhang, F., Ji, Z., Cai, Y., & Shi, Y. (2025) · Environmental Science & Technology · doi:10.1021/acs.est.4c08701 · Cited by 46
Brioude, F., Bouligand, J., Francou, B., Fagart, J., Roussel, R., Viengchareun, S., Combettes, L., Brailly‐Tabard, S., Lombès, M., Young, J., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0053896 · Cited by 48
Evolutionary Insights into the Steroid Sensitive kiss1 and kiss2 Neurons in the Vertebrate Brain
Kanda, S., & Oka, Y. (2012) · Frontiers in Endocrinology · doi:10.3389/fendo.2012.00028 · Cited by 42
Wang, Q., Sham, K. W. Y., Ogawa, S., Li, S., Parhar, I. S., Cheng, C. H. K., Liu, X., & Lin, H. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.04.023 · Cited by 42
Ramzan, F., & Qureshi, I. (2010) · Life Sciences · doi:10.1016/j.lfs.2010.11.019 · Cited by 42
Sukhbaatar, U., Kanasaki, H., Mijiddorj, T., Oride, A., & Miyazaki, K. (2013) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2013.09.002 · Cited by 42
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency
Wahab, F., Quinton, R., & Seminara, S. B. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.05.043 · Cited by 43
Self-citationJayasena, C. N., Comninos, A. N., Nijher, G. M. K., Abbara, A., Silva, A. D., Veldhuis, J. D., Ratnasabapathy, R., Izzi‐Engbeaya, C. N., Lim, A. K. P., Patel, D., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1069 · Cited by 42
Talbi, R., Laran‐Chich, M., Magoul, R., Ouezzani, S. E., & Simonneaux, V. (2016) · Scientific Reports · doi:10.1038/srep36057 · Cited by 42
Marraudino, M., Miceli, D., Farinetti, A., Ponti, G., Panzica, G., & Gotti, S. (2017) · Journal of Anatomy · doi:10.1111/joa.12603 · Cited by 42
The roles of kisspeptin in the mechanism underlying reproductive functions in mammals
Uenoyama, Y., Inoue, N., Maeda, K., & Tsukamura, H. (2018) · Journal of Reproduction and Development · doi:10.1262/jrd.2018-110 · Cited by 44
Advances in clinical applications of kisspeptin-GnRH pathway in female reproduction
Hu, K.-L., Chen, Z., Li, X., Cai, E., Yang, H., Chen, Y., Wang, C., Ju, L., Deng, W., & Mu, L. (2022) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-022-00953-y · Cited by 47
Molecular Genetics of Isolated Hypogonadotropic Hypogonadism and Kallmann Syndrome
Karges, B., & de Roux, N. (2005) · KARGER eBooks · doi:10.1159/000084094 · Cited by 42
Nijher, G. M. K., Chaudhri, O. B., Ramachandran, R., Murphy, K. G., Zac‐Varghese, S., Fowler, A., Chinthapalli, K., Patterson, M., Thompson, E. L., Williamson, C., et al. (2010) · British Journal of Clinical Pharmacology · doi:10.1111/j.1365-2125.2010.03746.x · Cited by 42
Looking for the bird Kiss: evolutionary scenario in sauropsids
Pasquier, J., Lafont, A.-G., Rousseau, K., Quérat, B., Chemineau, P., & Dufour, S. (2014) · BMC Evolutionary Biology · doi:10.1186/1471-2148-14-30 · Cited by 42
Kisspeptins and the control of gonadotrophin secretion
Dedes, I. (2012) · Systems Biology in Reproductive Medicine · doi:10.3109/19396368.2011.651555 · Cited by 43
Fink, G. (2015) · Journal of Endocrinology · doi:10.1530/joe-15-0130 · Cited by 42
Neurokinin B signalling in the human reproductive axis
Topaloglu, A. K., & Semple, R. K. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.07.014 · Cited by 41
McCarthy, E. A., Dischino, D., Maguire, C., León, S., Talbi, R., Cheung, E., Schteingart, C. D., Rivière, P. J.-M., Reed, S. D., Steiner, R. A., et al. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab602 · Cited by 41
Gołyszny, M. J., Obuchowicz, E., & Zielinski, M. W. (2021) · Neuropeptides · doi:10.1016/j.npep.2021.102216 · Cited by 42
Hypothalamic Kisspeptin Neurons: Integral Elements of the GnRH System
Prashar, V., Arora, T., Singh, R., Sharma, A., & Parkash, J. (2022) · Reproductive Sciences · doi:10.1007/s43032-022-01027-5 · Cited by 46
Salmeri, N., Viganò, P., Cavoretto, P. I., Marci, R., & Candiani, M. (2023) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-023-09826-0 · Cited by 44
Ogata, R., Matsuzaki, T., Iwasa, T., Kiyokawa, M., Tanaka, N., Kuwahara, A., Yasui, T., & Irahara, M. (2009) · Neuroendocrinology · doi:10.1159/000257421 · Cited by 42
Developmental Profile and Sexually Dimorphic Expression of Kiss1 and Kiss1r in the Fetal Mouse Brain
Knoll, J. G., Clay, C. M., Bouma, G. J., Henion, T. R., Schwarting, G. A., Millar, R. P., & Tobet, S. A. (2013) · Frontiers in Endocrinology · doi:10.3389/fendo.2013.00140 · Cited by 41
Terasaka, T., Otsuka, F., Tsukamoto, N., Nakamura, E., Inagaki, K., Toma, K., Ogura-Ochi, K., Glidewell-Kenney, C., Lawson, M. A., & Makino, H. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.07.009 · Cited by 41
Ohga, H., Selvaraj, S., Adachi, H., Imanaga, Y., Nyuji, M., Yamaguchi, A., & Matsuyama, M. (2014) · Neuroscience Letters · doi:10.1016/j.neulet.2013.12.072 · Cited by 41
Does Dynorphin Play a Role in the Onset of Puberty in Female Sheep?
Lopez, J. A., Bedenbaugh, M. N., McCosh, R. B., Weems, P. W., Meadows, L. J., Wisman, B. A., Coolen, L. M., Goodman, R. L., & Hileman, S. M. (2016) · Journal of Neuroendocrinology · doi:10.1111/jne.12445 · Cited by 41
Lee, B., Hiney, J. K., Pine, M. D., Srivastava, V. K., & Dees, W. L. (2006) · The Journal of Physiology · doi:10.1113/jphysiol.2006.123083 · Cited by 41
Interaction of Kisspeptin and the Somatotropic Axis
Whitlock, B. K., Daniel, J. A., Wilborn, R. R., Maxwell, H. S., Steele, B., & Sartin, J. L. (2010) · Neuroendocrinology · doi:10.1159/000318049 · Cited by 41
Role of the adipocyte-derived hormone leptin in reproductive control
García-Galiano, D., Allen, S. J., & Elias, C. F. (2014) · Hormone Molecular Biology and Clinical Investigation · doi:10.1515/hmbci-2014-0017 · Cited by 40
Genetic counseling for isolated GnRH deficiency
Au, M., Crowley, W. F., & Buck, C. L. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.05.041 · Cited by 40
Self-citationSexual Precocity - Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation
Macedo, D. B., Silveira, L. F. G., Bessa, D. D. S., Brito, V. N., & Latronico, A. C. (2015) · Endocrine development · doi:10.1159/000438874 · Cited by 40
Fatness rather than leptin sensitivity determines the timing of puberty in female mice
Bohlen, T. M., Silveira, M. A., Zampieri, T. T., Frazão, R., & Donato, J. (2016) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2015.12.022 · Cited by 40
Han, X., He, Y., Zeng, G., Wang, Y., Sun, W., Liu, J., Sun, Y., & Yu, J. (2017) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-017-0254-5 · Cited by 40
Witchel, S. F., & Topaloglu, A. K. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00017-2 · Cited by 42
D’Occhio, M. J., Campanile, G., & Baruselli, P. S. (2020) · Biology of Reproduction · doi:10.1093/biolre/ioaa135 · Cited by 41
Stincic, T. L., Qiu, J., Connors, A. M., Kelly, M. J., & Rønnekleiv, O. K. (2021) · eNeuro · doi:10.1523/eneuro.0093-21.2021 · Cited by 40
Diet-Induced Hypothalamic Inflammation, Phoenixin, and Subsequent Precocious Puberty
Valsamakis, G., Arapaki, A., Balafoutas, D., Charmandari, E., & Vlahos, N. (2021) · Nutrients · doi:10.3390/nu13103460 · Cited by 40
Association of the Timing of Puberty with a Chromosome 2 Locus
Wehkalampi, K., Widén, E., Laine, T., Palotie, A. V., & Dunkel, L. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0882 · Cited by 41
Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans
Hoskova, K., Kayton Bryant, N., Chen, M. E., Nachtigall, L. B., Lippincott, M. F., Balasubramanian, R., & Seminara, S. B. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac166 · Cited by 39
Self-citationChan, Y.-M., Lippincott, M. F., Butler, J. P., Sidhoum, V. F., Li, C. X., Plummer, L., & Seminara, S. B. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2233 · Cited by 39
Self-citationAn update on the genetic causes of central precocious puberty
Shin, Y. (2016) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2016.21.2.66 · Cited by 40
Narayanaswamy, S., Prague, J., Jayasena, C. N., Papadopoulou, D., Mizamtsidi, M., Shah, A., Bassett, P., Comninos, A. N., Abbara, A., Bloom, S. R., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-1911 · Cited by 39
Sato, K., Shirai, R., Hontani, M., Shinooka, R., Hasegawa, A., Kichise, T., Yamashita, T., Yoshizawa, H., Watanabe, R., Matsuyama, T., et al. (2017) · Journal of the American Heart Association · doi:10.1161/jaha.117.005790 · Cited by 40
Physiology and Pathology of the Female Reproductive Axis
Bulun, S. E. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0324-5.00017-1 · Cited by 40
Aggarwal, S., Tang, C., Sing, K., Kim, H. W., Millar, R. P., & Tello, J. A. (2018) · Neuroendocrinology · doi:10.1159/000496106 · Cited by 41
Ohga, H., Adachi, H., Matsumori, K., Kodama, R., Nyuji, M., Selvaraj, S., Kato, K., Yamamoto, S., Yamaguchi, A., & Matsuyama, M. (2014) · Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology · doi:10.1016/j.cbpa.2014.09.012 · Cited by 39
Early Development of the Gonadotropin-Releasing Hormone Neuronal Network in Transgenic Zebrafish
Zhao, Y., Lin, M., Farajzadeh, M. M., & Wayne, N. L. (2013) · Frontiers in Endocrinology · doi:10.3389/fendo.2013.00107 · Cited by 40
Uenoyama, Y., Tsukamura, H., & Maeda, K. (2009) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2009.01853.x · Cited by 40
Myers, M. A., Ebling, F. J. P., Nwagwu, M., Boulton, R., Wadhwa, K., Stewart, J., & KERR, J. B. (2005) · Journal of Anatomy · doi:10.1111/j.1469-7580.2005.00493.x · Cited by 39
Greives, T. J., Kriegsfeld, L. J., Bentley, G. E., Tsutsui, K., & Demas, G. E. (2008) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2008.0433 · Cited by 42
The role of early life nutrition in programming of reproductive function
Chadio, S. E., & Kotsampasi, B. (2013) · Journal of Developmental Origins of Health and Disease · doi:10.1017/s204017441300038x · Cited by 42
Puberty: Its Role In Development
Susman, E. J., & Dorn, L. D. (2009) · Handbook of Adolescent Psychology · doi:10.1002/9780470479193.adlpsy001006 · Cited by 39
Lactational Amenorrhea: Neuroendocrine Pathways Controlling Fertility and Bone Turnover
Calik-Ksepka, A., Stradczuk, M., Czarnecka, K., Grymowicz, M., & Smolarczyk, R. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031633 · Cited by 38
Fiorini, Z., & Jasoni, C. L. (2010) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2010.02059.x · Cited by 41
Puberty in Non-human Primates and Man
Plant, T. M., Terasawa, E., & Witchel, S. F. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-397175-3.00032-6 · Cited by 39
Saha, A., Pradhan, A., Sengupta, S., Nayak, M., Samanta, M., Sahoo, L., & Giri, S. S. (2015) · Comparative Biochemistry and Physiology Part B Biochemistry and Molecular Biology · doi:10.1016/j.cbpb.2015.10.008 · Cited by 38
Kisspeptin expression in mouse Leydig cells correlates with age
Wang, J.-Y., Hsu, M.-C., Tseng, T.-H., Wu, L., Yang, K., & Chiu, C. (2015) · Journal of the Chinese Medical Association · doi:10.1016/j.jcma.2015.01.004 · Cited by 39
Endocrine Effects of Anorexia Nervosa
Miller, K. K. (2013) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2013.05.007 · Cited by 38
Mutations along the hypothalamic–pituitary–gonadal axis affecting male reproduction
Huhtaniemi, I. T., & Alevizaki, M. K. (2007) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60529-9 · Cited by 39
Ando, H., Ogawa, S., Shahjahan, M., Ikegami, T., Doi, H., Hattori, A., & Parhar, I. S. (2014) · Journal of Neuroendocrinology · doi:10.1111/jne.12165 · Cited by 38
Stephens, S. B. Z., Rouse, M. L., Tolson, K. P., Liaw, R. B., Parra, R. A., Chahal, N., & Kauffman, A. S. (2017) · eNeuro · doi:10.1523/eneuro.0150-17.2017 · Cited by 41
GLP-1 increases Kiss-1 mRNA expression in kisspeptin-expressing neuronal cells†
Oride, A., Kanasaki, H., Mijiddorj, T., Sukhbaatar, U., Hara, T., Tumurbaatar, T., & Kyo, S. (2017) · Biology of Reproduction · doi:10.1093/biolre/iox087 · Cited by 38
Daily rhythms count for female fertility
Simonneaux, V., Bahougne, T., & Angelopoulou, E. (2017) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2017.10.012 · Cited by 41
Polycystic ovary syndrome (PCOS) and kisspeptin – A Sri Lankan study
Umayal, B., Jayakody, S. P. M. B., Chandrasekharan, N., Wijesundera, W. S. S., & Wijeyaratne, C. N. (2018) · Journal of Postgraduate Medicine · doi:10.4103/jpgm.jpgm_683_17 · Cited by 38
ESR2 Is Essential for Gonadotropin-Induced Kiss1 Expression in Granulosa Cells
Chakravarthi, V. P., Khristi, V., Ghosh, S., Yerrathota, S., Dai, E., Roby, K. F., Wolfe, M. W., & Rumi, M. A. K. (2018) · Endocrinology · doi:10.1210/en.2018-00608 · Cited by 38
Blasco, V., Pinto, F. M., Fernández‐Atutxa, A., Prados, N., Tena‐Sempere, M., Sánchez, M. F., & Candenas, L. (2018) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-018-1338-7 · Cited by 38
Arcuate Kisspeptin Neurons Coordinate Reproductive Activities with Metabolism
Rønnekleiv, O. K., Qiu, J., & Kelly, M. J. (2019) · Seminars in Reproductive Medicine · doi:10.1055/s-0039-3400251 · Cited by 38
Pituitary Physiology and Diagnostic Evaluation
Kaiser, U. B., & Ho, K. K. Y. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00008-3 · Cited by 39
Self-citationArcuate nucleus, median eminence, and hypophysial pars tuberalis
Korf, H., & Møller, M. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-820107-7.00015-x · Cited by 39
Sivalingam, M., & Parhar, I. S. (2021) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2021.100951 · Cited by 40
Kriszt, R., Winkler, Z., Polyák, Á., Kuti, D., Molnár, C., Hrabovszky, E., Kalló, I., Szőke, Z., Ferenczi, S., & Kovács, K. (2015) · Endocrinology · doi:10.1210/en.2015-1330 · Cited by 38
Precocious Puberty: Growth and Genetics
Phillip, M., & Lazar, L. (2005) · Hormone Research in Paediatrics · doi:10.1159/000087760 · Cited by 38
Ko, J. M., Lee, H. S., & Hwang, J. S. (2010) · Endocrine Journal · doi:10.1507/endocrj.k10e-073 · Cited by 38
Mittelman-Smith, M. A., Wong, A., Kathiresan, A. S. Q., & Micevych, P. E. (2015) · Endocrinology · doi:10.1210/en.2014-1803 · Cited by 39
Cardon, M., Ron-Harel, N., Cohen, H., Lewitus, G. M., & Schwartz, M. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.66 · Cited by 38
León, S., Fernandois, D., Sull, A., Sull, J., Calder, M. D., Hayashi, K., Bhattacharya, M. M., Power, S., Vilos, G. A., Vilos, A. G., et al. (2016) · Scientific Reports · doi:10.1038/srep29073 · Cited by 38
Decoster, L., Trova, S., Zucca, S., Bulk, J., Gouveia, A., Ternier, G., Lhomme, T., Legrand, A., Gallet, S., Boehm, U., et al. (2024) · Nature Neuroscience · doi:10.1038/s41593-024-01724-1 · Cited by 38
Effects of menopause on temperature regulation
Gombert, M., Vesterdorf, K., Fuller, A., Maloney, S. K., & Baker, F. C. (2025) · Temperature · doi:10.1080/23328940.2025.2484499 · Cited by 45
Clarkson, J., Shamas, S., Mallinson, S., & Herbison, A. E. (2012) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2012.02294.x · Cited by 39
Chemical identity of hypothalamic neurons engaged by leptin in reproductive control
Ratra, D. V., & Elias, C. F. (2014) · Journal of Chemical Neuroanatomy · doi:10.1016/j.jchemneu.2014.05.005 · Cited by 40
Constantin, S. (2017) · Frontiers in Endocrinology · doi:10.3389/fendo.2017.00180 · Cited by 37
Puberty and the Evolution of Developmental Science
Worthman, C. M., Dockray, S., & Marceau, K. (2019) · Journal of Research on Adolescence · doi:10.1111/jora.12411 · Cited by 40
Rather, M. A., Dutta, S., Guttula, P. K., Dhandare, B. C., Yusufzai, S. I., & Zafar, M. I. (2019) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2019.1633407 · Cited by 37
Yang, L.-K., Hou, Z.-S., & Tao, Y. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.165973 · Cited by 40
Kisspeptin in the Prediction of Pregnancy Complications
Tsoutsouki, J., Patel, B., Comninos, A. N., Dhillo, W. S., & Abbara, A. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.942664 · Cited by 37
Kemirembe, K., Liebmann, K., Bootes, A. M., Smith, W. A., & Suzuki, Y. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044429 · Cited by 37
Kisspeptins and the reproductive axis: potential applications to manage reproduction in farm animals
Caraty, A., Decourt, C., Briant, C., & Beltramo, M. (2012) · Domestic Animal Endocrinology · doi:10.1016/j.domaniend.2012.03.002 · Cited by 41
Kunimura, Y., Iwata, K., Ishigami, A., & Ozawa, H. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.10.018 · Cited by 37
Aquino, N. S. S., Araújo-Lopes, R., Henriques, P. C., Lopes, F. E. F., Gusmão, D. O., Coimbra, C. C., Franci, C. R., dos Reis, A. M., & Szawka, R. E. (2017) · Endocrinology · doi:10.1210/en.2016-1855 · Cited by 37
Viguié, C., Mhaouty‐Kodja, S., Habert, R., Chevrier, C., Michel, C., & Pasquier, E. (2018) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2018.02.007 · Cited by 37
Tsutsui, K. (2015) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2015.05.019 · Cited by 37
Rønnekleiv, O. K., Zhang, C., Bosch, M. A., & Kelly, M. J. (2014) · Neuroendocrinology · doi:10.1159/000370311 · Cited by 38
RF9 Acts as a KISS1R Agonist In Vivo and In Vitro
Min, L., León, S., Li, H., Pinilla, L., Carroll, R. S., Tena‐Sempere, M., & Kaiser, U. B. (2015) · Endocrinology · doi:10.1210/en.2015-1635 · Cited by 38
Self-citationKisspeptin antagonist prevents RF9-induced reproductive changes in female rats
Şahin, Z., Canpolat, S., Özcan, M., Özgöçer, T., & Keleştimur, H. (2015) · Reproduction · doi:10.1530/rep-14-0683 · Cited by 39
Metadata
- Authors
- Seminara, S. B., Messager, S., Chatzidaki, E. E., Thresher, R. R., Acierno, J. S., Shagoury, J. K., Bo-Abbas, Y., Kuohung, W., Schwinof, K. M., Hendrick, A. G., Zahn, D., Dixon, J., Kaiser, U. B., Slaugenhaupt, S. A., Gusella, J. F., O'Rahilly, S., Carlton, M. B. L., Crowley, W. F., Aparicio, S. A. J. R., & Colledge, W. H.
- Affiliations
- Massachusetts General Hospital (US)
- University of Cambridge (GB)
- Kuwait University (KW)
- Brigham and Women's Hospital (US)
- Harvard University (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2003-10-23
- Volume
- 349
- Issue
- 17
- Pages
- 1614-1627
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2142686356
- Cited by
- 2,557
- References
- 35
- Citations by year
- 2026: 44 · 2025: 68 · 2024: 88 · 2023: 84 · 2022: 121 · 2021: 114 · 2020: 123 · 2019: 138 · 2018: 144 · 2017: 127 · 2016: 134 · 2015: 138 · 2014: 156 · 2013: 163 · 2012: 152
- FWCI
- 44.75
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of General Medical Sciences (GM61354, P01GM061354)
- National Center for Research Resources (M01RR001066, 3M01-RR01066-22S2)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD015788, 5R01 HD15788-17, R01HD043341, U54HD029164, U54 HD28138-13, T32HD040135, T32 HD 40135, U54HD028138)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- GPR54, kisspeptin receptor, puberty onset, idiopathic hypogonadotropic hypogonadism, gonadotropin-releasing hormone, G protein-coupled receptors, autosomal recessive inheritance, inositol phosphate signaling, hypothalamic-pituitary-gonadal axis, compound heterozygosity
- MeSH terms
- Receptors, Kisspeptin-1, Animals, DNA Mutational Analysis, Female, Genes, Recessive, Gonadotropins, Gonads, Humans, Hypogonadism, Gonadotropin-Releasing Hormone, Lod Score, Male, Mutation, Pedigree, Phenotype, Puberty, Sexual Maturation, Receptors, Neuropeptide, Mice, Knockout, Reverse Transcriptase Polymerase Chain Reaction, Models, Animal, Receptors, G-Protein-Coupled, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
