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Select item 106531501.

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination

John C Magnotto, Alessandra Mancini, Keisha Bird, Luciana Montenegro, Filiz Tütüncüler, Sidney A Pereira, Vitoria Simas, Leonardo Garcia, Stephanie A Roberts, Delanie Macedo, Melissa Magnuson, Priscila Gagliardi, Nelly Mauras, Selma F Witchel, Rona S Carroll, Ana Claudia Latronico, Ursula B Kaiser, Ana Paula Abreu

J Clin Endocrinol Metab. 2023 Jul; 108(7): 1646–1656. Published online 2023 Mar 14. doi: 10.1210/clinem/dgad151

PMCID:: PMC10653150

Abstract Article

Select item 102340512.

Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty

Sümeyye Emel Eren, Enver Şimşek

J Clin Res Pediatr Endocrinol. 2023 Jun; 15(2): 182–189. Published online 2023 May 29. doi: 10.4274/jcrpe.galenos.2023.2022-6-6

PMCID:: PMC10234051

Abstract Article PDF–358K

Select item 97538483.

Клиническая и молекулярно-генетическая характеристика 3 семейных случаев гонадотропинзависимого преждевременного полового развития, обусловленного мутациями в гене <i>MKRN3</i>

Н. А. Зубкова, А. А. Колодкина, Н. А. Макрецкая, П. Л. Окороков, Т. В. Погода, Е. В. Васильев, В. М. Петров, А. Н. Тюльпаков

Probl Endokrinol (Mosk) 2021; 67(3): 55–61. Russian. Published online 2021 May 11. doi: 10.14341/probl12745

PMCID:: PMC9753848

Abstract Article PDF–259K

Select item 85659514.

Evaluation of Serum Makorin Ring Finger Protein 3 (MKRN3) Levels in Girls With Idiopathic Central Precocious Puberty and Premature Thelarche

Wei GE, Hai-Lian WANG, Hong-Jia SHAO, Hua-Wei LIU, Rui-Ying XU

Physiol Res. 2020 Feb; 69(1): 127–133. Published online 2019 Dec 19. doi: 10.33549/physiolres.934222

PMCID:: PMC8565951

Abstract Article PDF–356K

Select item 79935865.

Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations

Carlos Eduardo Seraphim, Ana Pinheiro Machado Canton, Luciana Montenegro, Maiara Ribeiro Piovesan, Delanie B Macedo, Marina Cunha, Aline Guimaraes, Carolina Oliveira Ramos, Anna Flavia Figueiredo Benedetti, Andrea de Castro Leal, Priscila C Gagliardi, Sonir R Antonini, Mirta Gryngarten, Andrea J Arcari, Ana Paula Abreu, Ursula B Kaiser, Leandro Soriano-Guillén, Arancha Escribano-Muñoz, Raquel Corripio, José I Labarta, Lourdes Travieso-Suárez, Nelmar Valentina Ortiz-Cabrera, Jesús Argente, Berenice B Mendonca, Vinicius N Brito, Ana Claudia Latronico

J Clin Endocrinol Metab. 2021 Apr; 106(4): e1041–e1050. Published online 2020 Dec 31. doi: 10.1210/clinem/dgaa955

Correction in:: J Clin Endocrinol Metab. 2021 Nov; 106(11): e4794.

PMCID:: PMC7993586

Abstract Article

Select item 73240506.

Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome

Brooke N Meader, Alessandro Albano, Hilal Sekizkardes, Angela Delaney

J Clin Endocrinol Metab. 2020 Aug; 105(8): 2732–2739. Published online 2020 Jun 1. doi: 10.1210/clinem/dgaa331

PMCID:: PMC7324050

Abstract Article

Select item 51959047.

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

Danielle S. Bessa, Delanie B. Macedo, Vinicius N. Brito, Monica M. França, Luciana R. Montenegro, Marina Cunha-Silva, Leticia G. Silveira, Tiago Hummel, Ignacio Bergadá, Debora Braslavsky, Ana Paula Abreu, Andrew Dauber, Berenice B. Mendonca, Ursula B. Kaiser, Ana Claudia Latronico

Neuroendocrinology. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Neuroendocrinology. 2017; 105(1): 17–25. Published online 2016 May 26. doi: 10.1159/000446963

PMCID:: PMC5195904

Abstract Article PDF–571K

Select item 50615998.

TIME COURSE OF CENTRAL PRECOCIOUS PUBERTY DEVELOPMENT CAUSED BY AN MKRN3 GENE MUTATION: A PRISMATIC CASE

Monica F. Stecchini, Delanie B. Macedo, Ana Claudia S. Reis, Ana Paula Abreu, Ayrton C. Moreira, Margaret Castro, Ursula B. Kaiser, Ana Claudia Latronico, Sonir R. Antonini

Horm Res Paediatr. Author manuscript; available in PMC 2017 Jul 16.

Published in final edited form as: Horm Res Paediatr. 2016; 86(2): 126–130. Published online 2016 Jul 16. doi: 10.1159/000447515

PMCID:: PMC5061599

Abstract Article PDF–456K

Select item 45733969.

A new pathway in the control of the initiation of puberty: the MKRN3 gene

Ana Paula Abreu, Delanie B. Macedo, Vinicius N. Brito, Ursula B. Kaiser, Ana Claudia Latronico

J Mol Endocrinol. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: J Mol Endocrinol. 2015 Jun; 54(3): R131–R139. doi: 10.1530/JME-14-0315

PMCID:: PMC4573396

Abstract Article PDF–558K

Select item 403773210.

Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

Delanie B. Macedo, Ana Paula Abreu, Ana Claudia S. Reis, Luciana R. Montenegro, Andrew Dauber, Daiane Beneduzzi, Priscilla Cukier, Leticia F. G. Silveira, Milena G. Teles, Rona S. Carroll, Gil Guerra Junior, Guilherme Guaragna Filho, Zoran Gucev, Ivo J. P. Arnhold, Margaret de Castro, Ayrton C. Moreira, Carlos Eduardo Martinelli, Jr, Joel N. Hirschhorn, Berenice B. Mendonca, Vinicius N. Brito, Sonir R. Antonini, Ursula B. Kaiser, Ana Claudia Latronico

J Clin Endocrinol Metab. 2014 Jun; 99(6): E1097–E1103. Published online 2014 Mar 14. doi: 10.1210/jc.2013-3126

PMCID:: PMC4037732

Abstract Article

Select item 380819511.

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

Ana Paula Abreu, Andrew Dauber, Delanie B. Macedo, Sekoni D. Noel, Vinicius N. Brito, John C. Gill, Priscilla Cukier, Iain R. Thompson, Victor M. Navarro, Priscila C. Gagliardi, Tânia Rodrigues, Cristiane Kochi, Carlos Alberto Longui, Dominique Beckers, Francis de Zegher, Luciana R. Montenegro, Berenice B. Mendonca, Rona S. Carroll, Joel N. Hirschhorn, Ana Claudia Latronico, Ursula B. Kaiser

N Engl J Med. Author manuscript; available in PMC 2013 Dec 27.

Published in final edited form as: N Engl J Med. 2013 Jun 27; 368(26): 10.1056/NEJMoa1302160. Published online 2013 Jun 5. doi: 10.1056/NEJMoa1302160

PMCID:: PMC3808195

Abstract Article PDF–264K

Select item 710449612.

MKRN3 and KISS1R mutations in precocious and early puberty

Sara Pagani, Valeria Calcaterra, Gloria Acquafredda, Chiara Montalbano, Elena Bozzola, Pietro Ferrara, Manuela Gasparri, Alberto Villani, Mauro Bozzola

Ital J Pediatr. 2020; 46: 39. Published online 2020 Mar 30. doi: 10.1186/s13052-020-0808-6

PMCID:: PMC7104496

Abstract Article PDF–516K

Select item 606298013.

Association between MKRN3 and LIN28B polymorphisms and precocious puberty

Bo Ram Yi, Hyun Jeong Kim, Hye Sook Park, Yoon Jeong Cho, Ju Young Kim, Jeong Yee, Jee Eun Chung, Joo Hee Kim, Kyung Eun Lee, Hye Sun Gwak

BMC Genet. 2018; 19: 47. Published online 2018 Jul 27. doi: 10.1186/s12863-018-0658-z

PMCID:: PMC6062980

Abstract Article PDF–567K

Select item 1024380714.

MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity

Lydie Naulé, Alessandra Mancini, Sidney A. Pereira, Brandon M. Gassaway, John R. Lydeard, John C. Magnotto, Han Kyeol Kim, Joy Liang, Cynara Matos, Steven P. Gygi, Florian T. Merkle, Rona S. Carroll, Ana Paula Abreu, Ursula B. Kaiser

JCI Insight. 2023 Apr 24; 8(8): e164178. Published online 2023 Apr 24. doi: 10.1172/jci.insight.164178

PMCID:: PMC10243807

Abstract Article PDF–9.5M

Select item 624073915.

Loss of hierarchical imprinting regulation at the Prader–Willi/Angelman syndrome locus in human iPSCs

Duarte Pólvora-Brandão, Mariana Joaquim, Inês Godinho, Domenico Aprile, Ana Rita Álvaro, Isabel Onofre, Ana Cláudia Raposo, Luís Pereira de Almeida, Sofia T Duarte, Simão T da Rocha

Hum Mol Genet. 2018 Dec 1; 27(23): 3999–4011. Published online 2018 Aug 8. doi: 10.1093/hmg/ddy274

PMCID:: PMC6240739

Abstract Article PDF–13M

Select item 278868916.

Genomic imprinting disorders in humans: a mini-review

Merlin G. Butler

J Assist Reprod Genet. 2009 Oct; 26(9-10): 477–486. Published online 2009 Oct 21. doi: 10.1007/s10815-009-9353-3

PMCID:: PMC2788689

Abstract Article PDF–248K

Select item 828886617.

MKRN3 regulates the epigenetic switch of mammalian puberty via ubiquitination of MBD3

Chuanyin Li, Wenli Lu, Liguang Yang, Zhengwei Li, Xiaoyi Zhou, Rong Guo, Junqi Wang, Zhebao Wu, Zhiya Dong, Guang Ning, Yujiang Shi, Yinmin Gu, Peng Chen, Zijian Hao, Tianting Han, Meiqiang Yang, Wei Wang, Xuehui Huang, Yixue Li, Shan Gao, Ronggui Hu

Natl Sci Rev. 2020 Mar; 7(3): 671–685. Published online 2020 Feb 14. doi: 10.1093/nsr/nwaa023

PMCID:: PMC8288866

Abstract Article PDF–2.2M

Select item 805311118.

MKRN3-mediated ubiquitination of Poly(A)-binding proteins modulates the stability and translation of GNRH1 mRNA in mammalian puberty

Chuanyin Li, Tianting Han, Qingrun Li, Menghuan Zhang, Rong Guo, Yun Yang, Wenli Lu, Zhengwei Li, Chao Peng, Ping Wu, Xiaoxu Tian, Qinqin Wang, Yuexiang Wang, Vincent Zhou, Ziyan Han, Hecheng Li, Feng Wang, Ronggui Hu

Nucleic Acids Res. 2021 Apr 19; 49(7): 3796–3813. Published online 2021 Mar 21. doi: 10.1093/nar/gkab155

PMCID:: PMC8053111

Abstract Article PDF–3.8M

Select item 741004619.

MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons

Ana Paula Abreu, Carlos A. Toro, Yong Bhum Song, Victor M. Navarro, Martha A. Bosch, Aysegul Eren, Joy N. Liang, Rona S. Carroll, Ana Claudia Latronico, Oline K. Rønnekleiv, Carlos F. Aylwin, Alejandro Lomniczi, Sergio Ojeda, Ursula B. Kaiser

J Clin Invest. 2020 Aug 3; 130(8): 4486–4500. Published online 2020 Jul 20. doi: 10.1172/JCI136564

PMCID:: PMC7410046

Abstract Article PDF–7.1M

Select item 821796720.

E3 ligase MKRN3 is a tumor suppressor regulating PABPC1 ubiquitination in non–small cell lung cancer

Ke Li, Xufen Zheng, Hua Tang, Yuan-Sheng Zang, Chunling Zeng, Xiaoxiao Liu, Yanying Shen, Yuzhi Pang, Simin Wang, Feifei Xie, Xiaojing Lu, Yuxiang Luo, Zhang Li, Wenbo Bi, Xiaona Jia, Tao Huang, Rongqiang Wei, Kenan Huang, Zihao Chen, Qingchen Zhu, Yi He, Miaoying Zhang, Zhizhan Gu, Yichuan Xiao, Xiaoyang Zhang, Jonathan A. Fletcher, Yuexiang Wang

J Exp Med. 2021 Aug 2; 218(8): e20210151. Published online 2021 Jun 18. doi: 10.1084/jem.20210151

PMCID:: PMC8217967

Abstract Article PDF–6.6M

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