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Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
Open accessAbstract
Hypogonadotropic hypogonadism is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. In the absence of pituitary or hypothalamic anatomical lesions and of anosmia (Kallmann syndrome), hypogonadotropic hypogonadism is referred to as isolated hypogonadotropic hypogonadism (IHH). A limited number of IHH cases are due to loss-of-function mutations of the gonadotropin-releasing hormone receptor. To identify additional gene defects leading to IHH, a large consanguineous family with five affected siblings and with a normal gonadotropin-releasing hormone receptor coding sequence was studied. Homozygosity whole-genome mapping allowed the localization of a new locus within the short arm of chromosome 19 (19p13). Sequencing of several genes localized within this region showed that all affected siblings of the family carried a homozygous deletion of 155 nucleotides in the GPR54 gene. This deletion encompassed the splicing acceptor site of intron 4-exon 5 junction and part of exon 5. The deletion was absent or present on only one allele in unaffected family members. GPR54 has been initially identified as an orphan G protein-coupled receptor with 40% homology to galanin receptors. Recently, a 54-aa peptide derived from the KiSS1 protein was identified as a ligand of GPR54. The present study shows that loss of function of GPR54 is a cause of IHH, and it identifies GPR54 and possibly KiSS1 protein-derived peptide as playing a major and previously unsuspected role in the physiology of the gonadotropic axis.
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“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 [16]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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 de Roux et al., 2003
Experimental — accuracy not yet measuredIn 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 [42]
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 [42]
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 [42]
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 [34]
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Chemical identity of hypothalamic neurons engaged by leptin in reproductive control
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“…receptor (GPR54/ Gpr54 also known as KISS1R/Kiss1r) genes cause infertility, prevent sexual maturation and lead to hypogonadotropic hypogonadism in mice and humans (de Roux et al., 2003, Seminara et al., 2003, d'Anglemont de Tassigny et al., 2007, Lapatto et al., 2007, Topaloglu et al., 2012).”
BackgroundEndocrine 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
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“The neuropeptide kisspeptin, encoded by the Kiss1 gene, stimulates GnRH release and, thus, is necessary for reproduction (de Roux et al., 2003; Seminara et al., 2003; Gottsch et al., 2004; Lapatto et al., 2007; d’Anglemont de Tassigny et al., 2008; Topaloglu et al., 2012).”
BackgroundPlasma kisspeptin levels are associated with insulin secretion in nondiabetic individuals
Andreozzi, F., Mannino, G. C., Mancuso, E., Spiga, R., Perticone, F., & Sesti, G. (2017) · PLoS ONE · doi:10.1371/journal.pone.0179834 · Cited by 38
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“In higher mammals, in the loss-of-function experiment of the kiss1 receptor leads to hypogonadotropic hypogonadism (testis or ovaries produce little or no sex hormones) (de Roux et al., 2003; Seminara et al., 2003).”
BackgroundArcuate 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
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Tsutsui, K. (2015) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2015.05.019 · Cited by 37
“In contrast to GnIH, kisspeptin has a stimulatory effect on GnRH neurons and it up-regulates the hypothalamic–pituitary–g onadal axis (HPG axis) in mammals (de Roux et al., 2003; Kauffman et al., 2007; Pinilla et al., 2012; Seminara et al., 2003).”
BackgroundStark, Z., Storen, R., Bennetts, B., Savarirayan, R., & Jamieson, R. V. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.11 · Cited by 36
Roth, C., Mccormack, A. L., Lomniczi, A., Mungenast, A., & Ojeda, S. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.04.017 · Cited by 38
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“and are critical for the onset of puberty and normal reproductive function [”
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Calik-Ksepka, A., Stradczuk, M., Czarnecka, K., Grymowicz, M., & Smolarczyk, R. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031633 · Cited by 38
Kisspeptin antagonist prevents RF9-induced reproductive changes in female rats
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The Changes They are A-Timed: Metabolism, Endogenous Clocks, and the Timing of Puberty
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“In 2003 two labs demonstrated cases of humans with idiopathic hypogonadotropic hypogonadism (IHH) who had mutations in KISS1R (de Roux et al., 2003; Seminara et al., 2003) that resulted in primary dysfunction of the reproductive axis.”
BackgroundBond, J. P. D., Tolson, K. P., Nasamran, C. A., Kauffman, A. S., & Smith, J. T. (2016) · Journal of Neuroendocrinology · doi:10.1111/jne.12430 · Cited by 36
“Introduction Kisspeptin (encoded by the Kiss1 gene) is a neuropeptide made in the hypothalamus that acts via the kisspeptin receptor, Kiss1r (originally known as Gpr54), to drive reproduction (1).”
BackgroundEspigares, F., Rocha, A., Gómez, A., Carrillo, M., & Zanuy, S. (2016) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2016.09.007 · Cited by 36
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Intrinsic links among sex, emotion, and reproduction
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“The absence of Kiss1/ Kiss1r results in a failure to go through puberty with resultant infertility [17, 18].”
BackgroundDissecting the Molecular Mechanisms Surrounding Post-COVID-19 Syndrome and Neurological Features
Mohamed, M. S., Johansson, A., Jonsson, J., & Schiöth, H. B. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23084275 · Cited by 37
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“Humans and mice with mutations in the kisspeptin receptor gene (Kiss1R) fail to undergo puberty (De Roux et al., 2003; Funes et al., 2003; Seminara et al., 2003).”
BackgroundEffects of estradiol on kisspeptin neurons during puberty
Clarkson, J. (2013) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2013.02.002 · Cited by 38
Kisspeptins and the reproductive axis: potential applications to manage reproduction in farm animals
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“In 2003, the discovery that the peptide/receptor iss-1/GPR54 system operates upstream of the GnRH ystem revolutionized our understanding of reproducive biology [6,7].”
BackgroundExpression of KiSS-1 in rat oviduct: possible involvement in prevention of ectopic implantation?
Gaytán, M., Castellano, J. M., Roa, J., Sánchez‐Criado, J. E., Tena‐Sempere, M., & Gaytán, F. (2007) · Cell and Tissue Research · doi:10.1007/s00441-007-0426-2 · Cited by 36
“More recently, kisspeptins and their receptor, the G-proteincoupled receptor GPR54, have been found to play key roles in reproduction by acting at the hypothalamus to regulate gonadotrophin-releasing hormone (GnRH) secretion (de Roux et al. 2003; Seminara et al. 2003; Tena-Sempere 2006).”
BackgroundConstantin, S. (2011) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2011.02130.x · Cited by 41
Hodne, K., Weltzien, F., Oka, Y., & Okubo, K. (2013) · Endocrinology · doi:10.1210/en.2013-1065 · Cited by 36
“The importance of the Kiss system as a regulator of the BPG axis emerged after observations that mutations in Gpr54–1 lead to idiopathic hypogonadotropic hypogonadism (10, 11).”
BackgroundLeón, 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
Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism
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Kisspeptins and GPR54—The new biology of the mammalian GnRH axis
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GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency
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SAR and QSAR Studies on the N-Terminally Acylated Pentapeptide Agonists for GPR54
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Immunohistochemical Evidence for the Presence of Various Kisspeptin Isoforms in the Mammalian Brain
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RFamide Peptides in Early Vertebrate Development
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“…deletion of Kiss1r display hypogonadotropic hypogonadism and are infertile, recapitulating phenotypes observed in human patients bearing KISS1R-inactivating mutations (Funes et al., 2003; Seminara et al., 2003; de Roux et al., 2003; Lapatto et al., 2007; Kirilov et al., 2013; Novaira et al., 2014).”
BackgroundSalehi, M. S., Shirazi, M. R. J., Zamiri, M. J., Pazhoohi, F., Namavar, M. R., Niazi, A., Ramezani, A., Tanideh, N., Tamadon, A., & Zarei, A. (2013) · Europe PMC (PubMed Central) · Cited by 35
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STAT5 signaling in kisspeptin cells regulates the timing of puberty
Silveira, M. A., Furigo, I. C., Zampieri, T. T., Bohlen, T. M., de Paula, D. G., Franci, C. R., Donato, J., & Frazão, R. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.03.024 · Cited by 36
“Because the Kiss1/Kiss1r system is a 64 key regulator of reproduction (de Roux et al., 2003; Seminara et al., 2003) and kisspeptin neurons are 65 direct targets of prolactin (Araujo-Lopes et al., 2014; Brown et al., 2014; Kokay et al., 2011; Li et al., 66 2011; Sjoeholm et al., 2011; Sonigo et al.,…”
BackgroundRegulation and Possible Functions of Kisspeptin in the Medial Amygdala
Stephens, S. B. Z., & Kauffman, A. S. (2017) · Frontiers in Endocrinology · doi:10.3389/fendo.2017.00191 · Cited by 33
Role of amygdala kisspeptin in pubertal timing in female rats
Adekunbi, D. A., Li, X. F., Li, S., Adegoke, O. A., Iranloye, B. O., Morakinyo, A., Lightman, S. L., Taylor, P. D., Poston, L., & O’Byrne, K. T. (2017) · PLoS ONE · doi:10.1371/journal.pone.0183596 · Cited by 35
“Kisspeptin modulates the secretion of gonadotropin-releasing hormone (GnRH) and mutations in the genes for kisspeptin (Kiss1) or kisspeptin receptor (Kiss1r) cause impaired puberty progression and infertility [14].”
BackgroundDaily 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
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Aczél, T., Kun, J., Szőke, É., Rauch, T. A., Junttila, S., Gyenesei, A., Bölcskei, K., & Helyes, Z. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00219 · Cited by 35
Louden, E. D., Poch, A., Kim, H., Ben‐Mahmoud, A., Kim, S., & Layman, L. C. (2021) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2021.111334 · Cited by 34
Current Perspectives on Kisspeptins Role in Behaviour
Mills, E. G., Yang, L., Abbara, A., Dhillo, W. S., & Comninos, A. N. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.928143 · Cited by 34
“The reproductive neuropeptide kisspeptin sits at the apex of the HPG axis, where it has important roles in controlling downstream reproductive hormone secretion (6, 7).”
BackgroundKisspeptin 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
“Indeed, early studies showed that inactivating variants of the kisspeptin receptor result in pubertal failure due to hypogonadotrophic hypogonadism, confirming the importance of kisspeptin signalling to reproductive health (2, 3).”
BackgroundFemale hypogonadism: evaluation of the hypothalamic–pituitary–ovarian axis
Rothman, M. S., & Wierman, M. E. (2008) · Pituitary · doi:10.1007/s11102-008-0109-3 · Cited by 35
“FSH Follicle stimulating hormone LH Luteinizing hormone GnRH Gonadotropin-releasing hormone POF Premature ovarian failure PCOS Polycystic ovarian syndrome CAH Congenital adrenal hyperplasia DHEA-S Dehydroepiandrosterone-sulfate GPR54 G protein couple receptor 54 IHH Idiopathic hypogonadotrophic hypogondadism E2 Estrad…”
InfluentialKISS1R: Hallmarks of an Effective Regulator of the Neuroendocrine Axis
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25 – Neuroendocrine Regulation of Reproductive Behavior in Birds
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“reproductive axis [37,38].”
Silveira, M. A., Zampieri, T. T., Furigo, I. C., Abdulkader, F., Donato, J., & Frazão, R. (2019) · Brain Research · doi:10.1016/j.brainres.2019.03.003 · Cited by 34
KISS1 in metastatic cancer research and treatment: potential and paradoxes
Ly, T., Harihar, S., & Welch, D. R. (2020) · Cancer and Metastasis Reviews · doi:10.1007/s10555-020-09868-9 · Cited by 37
“After the seminal case reports in 2003 identifying a clinical phenotype (hypogonadism) due to impaired KISS1/KISS1R signaling [76, 179], KP/KISS1R garnered great research interest and thrived beyond cancer, moving to physiology fields.”
BackgroundThe KiNG of reproduction: Kisspeptin/ nNOS interactions shaping hypothalamic GnRH release
Delli, V., Silva, M. S. B., Prévot, V., & Chachlaki, K. (2021) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2021.111302 · Cited by 38
Oleari, R., Massa, V., Cariboni, A. M., & Lettieri, A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22179425 · Cited by 36
“Kisspeptin (KISS1) and Kisspeptin Receptor (KISS1R) KISS1 (chr 1q32) and its receptor KISS1R (chr 19p13.”
BackgroundInfluentialOzawa, H. (2021) · Reproductive Medicine and Biology · doi:10.1002/rmb2.12419 · Cited by 36
The roles of GnRH in the human central nervous system
Wickramasuriya, N., Hawkins, R. D., Atwood, C., & Butler, T. (2022) · Hormones and Behavior · doi:10.1016/j.yhbeh.2022.105230 · Cited by 43
Does Kisspeptin Belong to the Proposed RF-Amide Peptide Family?
Yun, S., Kim, D.-K., Furlong, M., Hwang, J., Vaudry, H., & Seong, J. Y. (2014) · Frontiers in Endocrinology · doi:10.3389/fendo.2014.00134 · Cited by 34
Caraty, A., & Franceschini, I. (2008) · Reproduction in Domestic Animals · doi:10.1111/j.1439-0531.2008.01158.x · Cited by 35
Mechaly, A. S., Viñas, J., & Piferrer, F. (2012) · Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology · doi:10.1016/j.cbpa.2012.04.003 · Cited by 34
“…control of reproduction in 46 vertebrates (Roa et al., 2008; Tena-Sempere, 2010), and is thought to be particularly implicated 47 in the control of the onset of puberty in mammals (de Roux et al., 2003; Seminara et al., 2003) 48 and teleost fish (Oaklet et al., 2009; Taranger et al., 2010).”
BackgroundFactors that regulate KiSS1 gene expression in the hippocampus
Arai, A., & Orwig, N. (2008) · Brain Research · doi:10.1016/j.brainres.2008.09.031 · Cited by 35
Iwasa, T., Matsuzaki, T., Murakami, M., Kinouchi, R., Gereltsetseg, G., Fujisawa, S., Kuwahara, A., Yasui, T., & Irahara, M. (2010) · Journal of Endocrinology · doi:10.1677/joe-10-0129 · Cited by 34
Piekarski, D. J., Jarjisian, S. G., Pérez, L., Ahmad, H., Dhawan, N., Zucker, I., & Kriegsfeld, L. J. (2014) · Journal of Biological Rhythms · doi:10.1177/0748730414532423 · Cited by 34
“Kisspeptin, on the other hand, stimulates gonadotropin secretion during both short and long day lengths (de Roux et al., 2003; Funes et al., 2003; Seminara et al., 2003; Gottsch et al., 2004; Navarro et al., 2005).”
BackgroundCross-talk between metabolism and reproduction: the role of POMC and SF1 neurons
Xu, Y. (2012) · Frontiers in Endocrinology · doi:10.3389/fendo.2011.00098 · Cited by 36
“A great deal of the recent focus on afferent control of GnRH secretion has been on kisspeptin neurons in the hypothalamus, based on the ability of mutations of the kisspeptin receptor to cause hypogonadotropic hypogonadism in humans and animal models (de Roux et al., 2003; Seminara et al., 2003).”
BackgroundHormones and Reproductive Cycles in Primates
Wendy Saltzman, A., Tardif, S. D., & Rutherford, J. N. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-374928-4.10013-6 · Cited by 33
Effect of androgen on Kiss1 expression and luteinizing hormone release in female rats
Iwata, K., Kunimura, Y., Matsumoto, K. T., & Ozawa, H. (2017) · Journal of Endocrinology · doi:10.1530/joe-16-0568 · Cited by 36
Neuroendocrine Control of Gonadotropin Secretion
Goodman, R. L. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-397175-3.00033-8 · Cited by 34
Styne, D. M., & Grumbach, M. M. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0324-5.00025-0 · Cited by 37
Zhuo, Y., Zhou, D., Che, L., Fang, Z., Lin, Y., & Wu, D. (2014) · Nutrition · doi:10.1016/j.nut.2013.12.019 · Cited by 33
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
Wahab, F., Bano, R., Jabeen, S., Irfan, S., & Shahab, M. (2010) · Hormone and Metabolic Research · doi:10.1055/s-0030-1252016 · Cited by 33
Kobayashi, T., Sasaki, S., Tomita, N., Fukui, S., Kuroda, N., Nakayama, M., Kiba, A., Takatsu, Y., Ohtaki, T., Itoh, F., et al. (2010) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2010.04.036 · Cited by 35
Kisspeptin/G protein-coupled receptor-54 system as an essential gatekeeper of pubertal development
Rhie, Y. (2013) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2013.18.2.55 · Cited by 36
Martínez‐Fuentes, A. J., Molina, M., Vázquez‐Martínez, R., Gahete, M. D., Jiménez‐Reina, L., Moreno-Fernández, J., Benito-López, P., Quintero, A., de la Riva, A., Diéguez, C., et al. (2010) · European Journal of Endocrinology · doi:10.1530/eje-10-0905 · Cited by 35
Romero‐Ruíz, A., Avendaño, M. S., Domı́nguez, F., Lozoya, T., Molina‐Abril, H., Sangiao‐Alvarellos, S., Gurrea, M., Lara‐Chica, M., Sánchez, M. F., Torres, E., et al. (2019) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2019.01.228 · Cited by 34
Unraveling the connection between GABA and kisspeptin in the control of reproduction
Giorgio, N. P. D., Bizzozzero-Hiriart, M., Libertun, C., & Lux-Lantos, V. A. (2019) · Reproduction · doi:10.1530/rep-18-0527 · Cited by 33
Review: kisspeptin and reproduction in the pig
Lents, C. A. (2019) · animal · doi:10.1017/s1751731119001666 · Cited by 33
Genetics of hypogonadotropic hypogonadism
Millar, A. C., Faghfoury, H., & Bieniek, J. M. (2021) · Translational Andrology and Urology · doi:10.21037/tau.2020.03.33 · Cited by 35
“KISS1R Autosomal recessive Normosmic Kisspeptin receptor 1 (38)”
BackgroundNitric oxide resets kisspeptin-excited GnRH neurons via PIP2 replenishment
Constantin, S., Reynolds, D., Oh, A., Pizano, K., & Wray, S. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2012339118 · Cited by 36
MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity
Naulé, L., Mancini, A., Pereira, S. A., Gassaway, B. M., Lydeard, J. R., Rutherford, K., Magnotto, J. C., Kim, H. K., Liang, J. N., Matos, C., et al. (2023) · JCI Insight · doi:10.1172/jci.insight.164178 · Cited by 32
Reproductive seasonality in the mare: neuroendocrine basis and pharmacologic control
Williams, G. L., Thorson, J. F., Prezotto, L. D., Velez, I. C., Cardoso, R. C., & Amstalden, M. (2012) · Domestic Animal Endocrinology · doi:10.1016/j.domaniend.2012.04.001 · Cited by 34
“[61] de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL,”
BackgroundEmerging concepts on the epigenetic and transcriptional regulation of the Kiss1 gene
Semaan, S. J., & Kauffman, A. S. (2013) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2013.03.006 · Cited by 33
Kobayashi, T., Sasaki, S., Tomita, N., Fukui, S., Nakayama, M., Kiba, A., Kusaka, M., Matsumoto, S.-I., Yamaguchi, M., Itoh, F., et al. (2010) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2010.05.061 · Cited by 35
Kriegsfeld, L. J., Jennings, K. J., Bentley, G. E., & Tsutsui, K. (2018) · Journal of Neuroendocrinology · doi:10.1111/jne.12597 · Cited by 33
Stamou, M. I., Cox, K. H., & Crowley, W. F. (2015) · Endocrine Reviews · doi:10.1210/er.2015-1045.2016.1.test · Cited by 32
“The gene coding for kisspeptin receptor 1 (KISS1R) was discovered using linkage analysis in an endogamous pedigrees with multiple affected Bedouin family members displaying nIHH (70, 71).”
BackgroundCardon, M., Ron-Harel, N., Cohen, H., Lewitus, G. M., & Schwartz, M. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.66 · Cited by 38
Polymorphisms of KiSS-1 and GPR54 genes and their relationships with litter size in sheep
Chu, M., Xiao, C., Feng, T., Fu, Y. H. H., Cao, G., Li, F., Di, R., Tang, Q., Huang, D., Ma, Y., et al. (2011) · Molecular Biology Reports · doi:10.1007/s11033-011-1097-3 · Cited by 32
“Several SNPs were identified in IHH [15, 17 , 18, 23] and CPP patients [16].”
BackgroundKisspeptin-Evoked Calcium Signals in Isolated Primary Rat Gonadotropin- Releasing Hormone Neurones
Kroll, H., Bolsover, S. R., Hsu, J. S., Kim, S., & Bouloux, P.-M. G. (2010) · Neuroendocrinology · doi:10.1159/000321678 · Cited by 34
Allali, K. E., Bousmaki, N. E., Ainani, H., & Simonneaux, V. (2017) · Frontiers in Veterinary Science · doi:10.3389/fvets.2017.00099 · Cited by 32
“Since the discovery in 2003 that human (71) and mice (72) lacking functional Kp receptor (Kiss1r) are infertile, numerous studies have demonstrated the critical role of this neuropeptide in pubertal development and adult reproduction [see Ref.”
BackgroundNeuroactive steroids and diabetic complications in the nervous system
Giatti, S., Mastrangelo, R., D’Antonio, M., Pesaresi, M., Romano, S., Diviccaro, S., Caruso, D., Mitro, N., & Melcangi, R. C. (2017) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2017.07.006 · Cited by 32
Mechanism of pulsatile GnRH release in primates: Unresolved questions
Terasawa, E. (2019) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2019.110578 · Cited by 32
Lehman, M. N., He, W., Coolen, L. M., Levine, J. E., & Goodman, R. L. (2019) · Seminars in Reproductive Medicine · doi:10.1055/s-0039-3400254 · Cited by 35
Metadata
- Authors
- de Roux, N., Genin, E., Carel, J.-C., Matsuda, F., Chaussain, J.-L., & Milgrom, E.
- Affiliations
- Institut National de la Santé et de la Recherche Médicale Unité 135, Unité de Recherches Hormones Gènes et Reproduction, Hôpital de Bicêtre, 94275 Le Kremlin-Bicêtre, France; Institut National de la Santé et de la Recherche Médicale Unité 584, Hormone Targets, Faculté de Médecine Necker Enfants Malades, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale Unité 535, Génétique Epidémiologique et Structure des Populations Humaines, Hôpital de Bicêtre, 94275 Le Kremlin-Bicêtre...
- Hôpital Necker-Enfants Malades (FR)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2003-08-27
- Volume
- 100
- Issue
- 19
- Pages
- 10972-10976
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC196911
- OpenAlex
- W2143506157
- Cited by
- 2,431
- References
- 29
- Citations by year
- 2026: 36 · 2025: 65 · 2024: 99 · 2023: 78 · 2022: 123 · 2021: 115 · 2020: 130 · 2019: 120 · 2018: 144 · 2017: 121 · 2016: 127 · 2015: 133 · 2014: 137 · 2013: 147 · 2012: 153
- FWCI
- 45.57
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
- Keywords
- isolated hypogonadotropic hypogonadism, GPR54, loss-of-function mutations, chromosome 19p13, consanguineous family, GnRH receptor, orphan G protein-coupled receptor, gonadotropic axis, aberrant splicing, follicle-stimulating hormone, luteinizing hormone
- MeSH terms
- Receptors, Kisspeptin-1, Base Sequence, Consanguinity, Female, Genotype, Humans, Hypogonadism, Male, Pedigree, DNA Primers, Receptors, Neuropeptide, Receptors, G-Protein-Coupled
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