Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
Abreu, Ana Paula, Dauber, Andrew, Macedo, Delanie B., Noel, Sekoni D., Brito, Vinicius N., Gill, John C., Cukier, Priscilla, Thompson, Iain R., Navarro, Victor M., Gagliardi, Priscila C., Rodrigues, Tânia, Kochi, Cristiane, Longui, Carlos Alberto, Beckers, Dominique, de Zegher, Francis, Montenegro, Luciana R., Mendonca, Berenice B., Carroll, Rona S., Hirschhorn, Joel N., Latronico, Ana Claudia, Kaiser, Ursula B.·2013·New England Journal of Medicine
Cited by (540)
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- Additional file 5 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 4 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 10 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 7 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 6 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 9 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 11 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 3 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 8 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 2 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- Additional file 1 of Methylome analysis in girls with idiopathic central precocious pubertyStefania Palumbo, Domenico Palumbo, Grazia Cirillo, Giorgio Giurato, Francesca Bianca Aiello, Miraglia del Giudice, Emanuele, Anna Grandone · 2024 · Figshare
- The role of MKRN3 gene on central precocious pubertyEzgi Burgaç, Leman Damla Kotan, İhsan Turan, Yılmaz Kör, Bilgin Yüksel · 2025 · Çukurova medical journal (Online)/Çukurova medical journal
- Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader–Willi syndrome: insights from a frameshift variantYu-Yu Jin, Xiao Qin Wang, Lin Yang, Jian Mu, Feihong Luo · 2026 · World Journal of Pediatrics
- Delayed Puberty in BoysCharlotte E. Thomsen, Alexander S. Busch, Stine Agergaard Holmboe, Nanna Kolby, Anders Juul, Lise Aksglæde · 2026 · Endocrinology
- Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variantEsin Karakılıç Özturan, Volkan Karaman, Asuman Gedikbaşı, Şükran Poyrazoğlu, Feyza Darendelıler, Zehra Oya Uyguner, Firdevs Baş · 2026 · Therapeutic Advances in Endocrinology and Metabolism
- Solution structure of the novel CH-domain zinc finger from the puberty regulator Makorin-3Antonio J. Rua, Andrei T. Alexandrescu · 2026 · Biochemical and Biophysical Research Communications
- Annotating rare variants: A challenge that has not been completely resolvedS. Miskinyte, Clémence Delcour, Rihab Makhlouf, Sana Fendri, Svetlana Maugenre, Nicolás de Roux · 2026 · Annales d Endocrinologie
- The Impact of Nutrition, Genetics, Environment, and Common Issues on Adolescent Growth and DevelopmentSusana Hernández‐Ramírez, Kioko Rubí Guzmán-Ramos · 2026 · Advances in experimental medicine and biology
- Rôle de la signalisation hypothalamique TSH/T3 dans la reproduction saisonnière chez les hamsters Djungariens (Phodopus sungorus) et Syriens (Mesocricetus auratus)Sébastien Milesi · 2018 · theses.fr (ABES)
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- Exploring the contribution of NO-synthesizing neurons in the set-in motion and the functioning of the hypothalamus-pituitary-gonadal axisVirginia Delli · 2023 · theses.fr (ABES)
- Mkrn3 , Dlk1, and Mecp2 have distinct hypothalamic expression patterns across pubertal maturation in male and female miceFlávia Rezende Tinano, Cinthia Gabriel Meireles, Delanie Bulcão Macedo, Natália Prado Boris, Sidney Alcântara Pereira, Melissa Magnuson, Ana Paula Abreu, Rona Stephanie Carroll, Ana Cláudia Latronico, Ursula B. Kaiser · 2026 · Journal of the Endocrine Society
- PI4-kinase A is essential for survival of the GnRH neuronsStéphanie Constantin, Naseratun Nessa, Stanko S. Stojilković · 2026 · Frontiers in Endocrinology
- A serum exosomal four-miRNA signature for the diagnosis of central precocious puberty: a discovery and validation studyJing Wang, Huangdi Xie, Jie Deng, Xiu Zhao, Linzhu Zhang, Lisheng Wan · 2026 · Frontiers in Pediatrics
- A rise in prepubertal DHEA in the spiny mouse reveals the effect of adrenarche on the reproductive axisMaya Sudman, Hadas Gruber, Ben Bar-Sadeh, Tal Refael, G. Golan, Nicol Shvartsman, Lilach Pnueli, Noga Kronfeld‐Schor, Philippa Melamed · 2026 · BMC Biology
- Developmental reproductive impacts of gestational polystyrene nanoplastics exposure: precocious puberty and impaired ovarian reserve in female offspringJunhong Xie, Moxuan Zhao, Baolu Liang, Ruxuan Zhang, Yue Zhang, Jinglong Xue, Ruiyang Zhang, Xi Yang, Yifan Yang, Hongou Wang et al. · 2026 · Food and Chemical Toxicology
- Genotype–phenotype associations of MKRN 3 variants in children with central precocious puberty: a single-center study from UzbekistanZamira Khalimova, Dilafruz Ulug'bek qizi Uralova, Mamatkulov Elbek Abdumonnanovich, Aziza Uktam kizi Abdullaeva, Dilorom Sharipovna Kholova, Surayyo Otabekovna Mehmanova, Sevara Anvarova, З Д Расулова, Наргиза Юсуфовна Халимова · 2026 · Journal of Pediatric Endocrinology and Metabolism
- Serum and serum-derived extracellular vesicle microRNA signatures linked to neurodevelopmental processes in central precocious pubertyMaria Morrou, Vassos Neocleous, Meropi Toumba, Marios Tomazou, Louiza Potamiti, Maria Zanti, Kyriaki Michailidou, Fotios Mpekris, George M. Spyrou, Andreas N. Protopapas et al. · 2026 · Frontiers in Endocrinology
- Precocious puberty in boys: current insights into etiology, genetic advances, and environmental factorsMaria Elisa Amodeo, Giulia Mirra, Annalisa Deodati, Stefano Cianfarani · 2026 · Frontiers in Endocrinology
- Spatial control of mRNA translation underlies MKRN3-mediated delay of pubertyDor Shalev, Lilach Pnueli, Amir Argoetti, Tyler Brent de Leon, G. Golan, Galia Polyak, Tamar Hashimshony, Yael Mandel‐Gutfreund, Philippa Melamed · 2026 · iScience
- Post-COVID-19 rise in central precocious puberty: an integrative ReviewXiaoya Chen, Shuxia Ding · 2026 · Journal of Pediatric Endocrinology and Metabolism
- Treatment Outcomes in 84 Male Children with Accelerated Pubertal Progression: A Comparative Analysis ofGnRHa, Combined GH Therapy and Aromatase InhibitorSHANSHAN XU, QUN LIAN, YILONG SHEN, LINGLI LI · 2026 · Research Square
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- Syndrome differentiation and treatment of pediatric central precocious puberty: role of the spleen-kidney axisYujun Luo, Chaojie Huang, Yanting Lu, Jieying He, Hailing Chen, Jinghua Yang · 2026 · Frontiers in Immunology
- 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
- Pubertal delay in patients with paternally derived 15q11.2–q13 duplication syndrome and MKRN3 overexpressionDelfina Petrone, Stefania Palumbo, Carola Giacobbe, Maria Elena Onore, Maria Esposito, Silverio Perrotta, Emanuele Miraglia del Giudice, Giulio Piluso, Vincenzo Nigro, Claudia Santoro et al. · 2026 · The Journal of Clinical Endocrinology & Metabolism
- SMCHD1 is a target for gene activation therapy to treat Prader-Willi syndromeMegan Iminitoff, Anna K. Le Fevre, Tamara J Beck, Hannah Kate Vanyai, Caleb Chew, Sarah Kinkel, Kelsey A. Breslin, Susanne Theiß, Quentin A. Gouil, Merlin C. Thomas et al. · 2026 · Science Advances
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