ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 8 results

ey0020.5-10 | Basic Research | ESPEYB20

5.10. Hypothalamic overexpression of makorin ring finger protein 3 results in delayed puberty in female mice

SA Roberts , L Naule , S Chouman , T Johnson , M Johnson , RS Carroll , VM Navarro , UB Kaiser

Brief summary: This article shows that intra-cerebroventricular injections of a recombinant adeno-associated virus expressing MKRN3 resulted in delayed puberty in female mice.MKRN3 loss-of-function mutation is the most frequent cause of familial central precocious puberty (CPP) (1).These authors investigated the effect of MKRN3 overexpression on pubertal timing, by generating a mouse model of neonatal hypothalamic Mkrn3 ov...
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ey0018.7-11 | Basic Science | ESPEYB18

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

AP Abreu , CA Toro , YB Song , VM Navarro , MA Bosch , A Eren , JN Liang , RS Carroll , AC Latronico , OK Ronnekleiv , CF Aylwin , A Lomniczi , S Ojeda , UB Kaiser

J Clin Invest. 2020 Aug 3;130(8):4486–4500. 10.1172/JCI136564. PMID: 32407292 https://www.jci.org/articles/view/136564In brief: This study in rats and non-human primate models investigated the mechanisms by which MKRN3 regulates pubertal onset in rats and non-human primates.Comment: Pubertal timing is in...
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ey0019.7-9 | Basic Science | ESPEYB19

7.9. Sex-specific pubertal and metabolic regulation of Kiss1 neurons via Nhlh2

S Leon , R Talbi , EA McCarthy , K Ferrari , C Fergani , L Naule , JH Choi , RS Carroll , UB Kaiser , CF Aylwin , A Lomniczi , VM Navarro

Elife. 2021 Sep 8;10:e69765. doi: 10.7554/eLife.69765. PMID: 34494548. https://elifesciences.org/articles/69765Brief Summary: Using a database for arcuate nucleus transcripts, this study identifies Nhlhl2 as a key regulator of the Kiss1 gene in male mice.The timing of puberty onset is i...
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ey0016.7-1 | Basic Science | ESPEYB16

7.1. PACAP neurons in the ventral premammillary nucleus regulate reproductive function in the female mouse

RA Ross , S Leon , JC Madara , D Schafer , C Fergani , CA Maguire , AM Verstegen , E Brengle , D Kong , AE Herbison , UB Kaiser , BB Lowell , VM Navarro

To read the full abstract: Elife. 2018 Jun 15;7. pii: e35960.Using transgenic mice, this team discover a new role for Pituitary adenylate cyclase activating polypeptide (PACAP) in female puberty and reproduction. This neuropeptide relays nutritional state information in the hypothalamus to regulate gonadotropin-releasing hormone release.Metabolic cues play...
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ey0020.5-9 | Basic Research | ESPEYB20

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

L Naule , A Mancini , SA Pereira , BM Gassaway , JR Lydeard , JC Magnotto , HK Kim , J Liang , C Matos , SP Gygi , FT Merkle , RS Carroll , AP Abreu , UB Kaiser

Brief summary: Using human induced pluripotent stem cells as well as transgenic mouse models, this paper shows that MKRN3 could initiate pubertal onset by regulating hypothalamic development and plasticity.The reactivation of GnRH secretion at puberty is thought to result from a loss in inhibitory input together with an increase in transactivation onto GnRH neurons. The main component of this inhibitory tone was incompletely understood until the discover...
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ey0019.7-7 | Basic Science | ESPEYB19

7.7. Connecting nutritional deprivation and pubertal inhibition via GRK2-mediated repression of kisspeptin actions in GnRH neurons

C Perdices-Lopez , MS Avendano , A Barroso , F Gaytan , F Ruiz-Pino , MJ Vazquez , S Leon , YB Song , V Sobrino , V Heras , A Romero-Ruiz , J Roa , F Jr Mayor , C Murga , L Pinilla , UB Kaiser , M. Tena-Sempere

Metabolism. 2022 Apr;129:155141. doi: 10.1016/j.metabol.2022.155141. Epub 2022 Jan 22. PMID: 35074314. https://www.metabolismjournal.com/article/S0026-0495(22)00019-1/fulltextBrief Summary: the authors used pharmacological and transgenic models to demonstrate the role of GRK2, G protein coupled-recept...
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ey0018.7-2 | Clinical Guidance | ESPEYB18

7.2. Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations

CE Seraphim , APM Canton , L Montenegro , MR Piovesan , DB Macedo , M Cunha , A Guimaraes , CO Ramos , AFF Benedetti , A de Castro Leal , PC Gagliardi , SR Antonini , M Gryngarten , AJ Arcari , AP Abreu , UB Kaiser , L Soriano-Guillen , A Escribano- Munoz , R Corripio , JI Labarta , L Travieso-Suarez , NV Ortiz-Cabrera , J Argente , BB Mendonca , VN Brito , AC Latronico

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1041–1050. 10.1210/clinem/dgaa955. PMID: 33383582. https://academic.oup.com/jcem/article-abstract/106/4/1041/6056669?redirectedFrom=fulltextIn brief: This paper describes the clinical and hormonal features of a large cohort of patients wit...
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ey0017.7-12 | Basic Science | ESPEYB17

7.12. Hypothalamic miR-30 regulates puberty onset via repression of the puberty-suppressing factor, Mkrn3

V Heras , S Sangiao-Alvarellos , M Manfredi-Lozano , MJ Sanchez-Tapia , F Ruiz- Pino , J Roa , M Lara-Chica , R Morrugares-Carmona , N Jouy , AP Abreu , V Prevot , D Belsham , MJ Vazquez , MA Calzado , L Pinilla , F Gaytan , AC Latronico , UB Kaiser , JM Castellano , M Tena-Sempere

To read the full abstract: PLoS biology vol. 17,11 e3000532. 7 Nov. 2019. doi: https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.3000532This study unravels the role of the miR-30/Mkrn3 pathway in the hypothalamic regulation of puberty Puberty onset is triggered by a hypothalamic network of interconnected...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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