TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction
Topaloglu, A Kemal, Reimann, Frank, Guclu, Metin, Yalin, Ayse Serap, Kotan, L Damla, Porter, Keith M, Serin, Ayse, Mungan, Neslihan O +7 more·2009·Nature Genetics
DOI 10.1038/ng.306
Cited by (951)
Items 901–951 of 951
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- The Hypothalamus-Pituitary in Males in Health and DiseaseStephen J. Winters · 2025 · Springer eBooks
- Nonneoplastic diseases of the testisManuel Nistal, Ricardo Paniagua, Pilar González‐Peramato · 2014 · Elsevier eBooks
- Precocious Puberty in Girls: Pathogenesis, Genetic Architecture and Emerging Molecular TherapiesT. Arulmani, G Sivakumar, D.K. Shanmuganathan · 2025
- De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadismMaria I. Stamou, Miranda Faith Tompkins, Hannah Bow, Jessica Kearney, Maleeha Akram, Harrison Brand, Xuefang Zhao, Shadi Zaheri, Neoklis A. Georgopoulos, Odelia Chorin et al. · 2025 · Genetics in Medicine
- Additional file 1 of Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health recordsRuth, Katherine S., Beaumont, Robin N., Jonathan M. Locke, Jessica Tyrrell, Crandall, Carolyn J., Gareth Hawkes, Frayling, Timothy M., Julia Prague, Kashyap Amratlal Patel, Andrew R. Wood et al. · 2023 · Figshare
- Additional file 2 of Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health recordsRuth, Katherine S., Beaumont, Robin N., Jonathan M. Locke, Jessica Tyrrell, Crandall, Carolyn J., Gareth Hawkes, Frayling, Timothy M., Julia Prague, Kashyap Amratlal Patel, Wood, Andrew R. et al. · 2024 · Figshare
- Follow-Up and Monitoring of Adolescents with Delayed Puberty, Testicular Dysgenesis SyndromeAngelo Alessandro Marino, M. Timpano, Islam Fathy Soliman Abdelrahman · 2026 · Springer eBooks
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- Genetic Basis and Heterogeneity of Congenital Hypogonadotropic HypogonadismLetícia Ferreira Gontijo Silveira, Carlos Eduardo Seraphim, Ana Cláudia Latronico · 2025 · Seminars in Reproductive Medicine
- Relationship between kisspeptin-10, neurokinin B and dynorphin A in the course of normal and delayed puberty in ewesNatalia Szysiak, Urszula Kosior‐Korzecka, Monika Greguła‐Kania, Krzysztof Patkowski, M. Fila, Andrzej Junkuszew · 2026 · Journal of Veterinary Research
- Contribution à la caractérisation de nouveaux gènes impliqués dans les hypogonadismes hypogonadotropes : caractérisation des mécanismes moléculaires et cellulairesBruno Francou · 2016 · theses.fr (ABES)
- Mise en place prénatale des cellules à kisspeptine du noyau arqué chez la souris : effet du sexe et de l'oestradiolCaroline Alfaïa · 2017
- Induction d'une maturation sexuelle précoce chez la chevrette par une exposition prépubertaire au mâleManon Chasles · 2017
- IMPACT DE L’HYPERCORTICISME SUR L’AXE GONADOTROPE FEMELLEMohsen Ayrout · 2018
- Characterization of tachykinin system and role in reproduction in the European eelAurora Campo · 2018
- Perturbation de la rythmicité circadienne : impact sur la fonction reproductive de souris femellesThibault Bahougne · 2020
- Contrôle central de la reproduction chez le dromadaire : effet des saisons et du facteur inducteur d’ovulation (β-NGF) sur les neurones à kisspeptine et à RFRP-3Hassan Ainani · 2021
- Inactivating PLEKHA6 Mutations Cause Idiopathic Hypogonadotropic Hypogonadism Through Impaired Kisspeptin SecretionAli Kemal Topaloglu, Lacey Plummer, Chien‐Wen Su, Leman Damla Kotan, Gamze Çelmeli, Enver Şimşek, Yuhang Zhao, Maria I. Stamou, Ahmet ANIK, Esra Döğer et al. · 2026 · medRxiv
- Neural Regulation of Endocrine SystemMahesh Arjundan Gadhvi, Shival Srivastav · 2026 · Physiology in clinical neurosciences
- Kisspeptin-10/basal LH ratio improves differentiation of central precocious puberty and premature thelarcheAntara A. Banerjee, Shital R. Bhanarkar, Swati Kashikar, Rachna Keshwani, Shagun Walia, D R Kavya, Shweta Bombe, Shailesh Shankar Pande, Deepak N. Modi, Bhakti R. Pathak et al. · 2026 · Clinica Chimica Acta
- Identification of a Novel Splice-Site variant in TACR3 (c.888 + 1G > A) Associated with Asthenozoospermia and Hypogonadotropic Hypogonadism in an Iranian FamilyMohammadreza Saberiyan, SM Kalantar, Reza Mirfakhraie, Hossein Teimori, Naser Riazi, Azim Nejatizadeh · 2026 · Reproductive Sciences
- Establishing the role of ZBTB20 mutations in GnRH deficiency and impaired neurogenesis in the subventricular zone: a human cohort and animal model studyJun Guan, Jingtan Zhu, Yuting Li, Min Nie, Jing Zhang, Zhiheng Chen, Huadie Liu, Danna Chen, Ruizhi Zheng, Meichao Men et al. · 2026 · EBioMedicine
- Obesity, Oxidative Stress, and Inflammation in Precocious Puberty: Do All Roads Lead to the Hypothalamus?Teofana Otilia Bizerea, Flavia Chisavu, Lazar A. Chisavu, Laura Pitulice, Tudor Voicu Moga, Meda-Ada Bugi, Cornel Flavius Foghiș, Raluca Isac, Otilia Mărginean, Nicolae Constantin Balica · 2026 · International Journal of Molecular Sciences
- Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrumKarine Aouchiche, Laure van Wormhoudt, Kévin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet et al. · 2026 · Journal of Neuroendocrinology
- Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologiesKatarzyna Bilińska, Magdalena Pasińska, Fernando de Castro · 2026 · Frontiers in Molecular Neuroscience
- SLC32A1 regulates puberty onset in female mice by modulating GnRH neuron function through Kisspeptin and GABA-GABAB receptor signalingZhihao Pan, Wei Zhang, Kejian Han, Dongyuan Fu, Xiangyang Jiang, Mengxian Li, Ya Liu, Yunsheng Li, Fugui Fang · 2026 · Theriogenology
- Peri- und Postmenopause: aktuelle diagnostische und therapeutische Aspekte für die DACH-RegionBettina Toth, Johannes Ott, Doris Maria Gruber, Gert Naumann, Susanna Weidlinger, Katrin Schaudig · 2026 · Wiener klinische Wochenschrift
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- Circuit organization of Tac2-expressing neurons from established functions to testable hypothesesZixu Zhang, Shengru Hu, Hongchao Cao, Mingdao Mu · 2026 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
- BindingDB Entry 50044734: Development of novel neurokinin 3 receptor (NK3R) selective agonists with resistance to proteolytic degradation.BindingDB · 2016 · UC San Diego
- BindingDB Entry 50042856: Structure-activity relationship study of tachykinin peptides for the development of novel neurokinin-3 receptor selective agonists.BindingDB · 2013 · UC San Diego
- BindingDB Entry 50040855: Identification of a crucial amino acid in the helix position 6.51 of human tachykinin neurokinin 1 and 3 receptors contributing to the insurmountable mode of antagonism by dual NK1/NK3 antagonists.BindingDB · 2013 · UC San Diego
- BindingDB Entry 50045788: Discovery and optimization of novel antagonists to the human neurokinin-3 receptor for the treatment of sex-hormone disorders (Part I).BindingDB · 2016 · UC San Diego
- The developmental, genetic, and epigenetic basis of polyendocrine metabolic ovarian syndromeAbdallah Mahdi, Abeer Qannan, Nady El Hajj · 2026 · Frontiers in Endocrinology
- Pathway-Specific Signaling and its Impact on Fertility: A Focus on the Kisspeptin Receptor, Kiss1rMaryse R. Ahow · 2014 · Scholarship@Western (Western University)
- Ipogonadismo ipogonadotropo familiare isolato e mutazione del gene GNRH1Jérôme Bouligand, Cristina Ghervan, Javier Ananda Tello, Sylvie Brailly‐Tabard, Sylvie Salenave, Philippe Chanson, Marc Lombès, Robert Peter Millar, Anne Guiochon‐Mantel, Jacques Young et al. · 2009 · L Endocrinologo