ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 6 results

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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ey0021.7-6 | Clinical Guidance and Studies | ESPEYB21

7.6. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels

L Montenegro , C Seraphim , F Tinano , M Piovesan , APM Canton , K McElreavey , S Brabant , NP Boris , M Magnuson , RS Carroll , UB Kaiser , J Argente , V Barrios , VN Brito , R Brauner , AC Latronico

Brief Summary: This cross-sectional study identifies two pathogenic variants in the Delta-like noncanonical notch ligand 1 ( DLK1 ) gene in a French cohort of 121 children with idiopathic central precocious puberty (CPP).DLK1 is a noncanonical ligand of the Delta Notch pathway known to be involved in adipocyte differentiation. Its hypothalamic expression suggests a potential role in coordinating reproductive and metabolic functions. Pathogenic v...
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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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ey0021.7-5 | Clinical Guidance and Studies | ESPEYB21

7.5. Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

APM Canton , FR Tinano , L Guasti , LR Montenegro , F Ryan , D Shears , ME de Melo , LG Gomes , MP Piana , R Brauner , R Espino-Aguilar , A Escribano-Munoz , A Paganoni , JE Read , M Korbonits , CE Seraphim , SS Costa , AC Krepischi , AAL Jorge , A David , LR Kaisinger , KK Ong , JRB Perry , AP Abreu , UB Kaiser , J Argente , BB Mendonca , VN Brito , SR Howard , AC Latronico

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...
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ey0021.7-8 | Clinical Guidance and Studies | ESPEYB21

7.8. Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty

K Duckett , A Williamson , JWR Kincaid , K Rainbow , LJ Corbin , HC Martin , RY Eberhardt , QQ Huang , ME Hurles , W He , R Brauner , A Delaney , L Dunkel , RP Grinspon , JE Hall , JN Hirschhorn , SR Howard , AC Latronico , AAL Jorge , K McElreavey , V Mericq , PM Merino , MR Palmert , L Plummer , RA Rey , RC Rezende , SB Seminara , K Salnikov , I Banerjee , BYH Lam , JRB Perry , NJ Timpson , P Clayton , YM Chan , KK Ong , S O'Rahilly

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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