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ey0019.7-1 | Clinical Guidance | ESPEYB19

7.1. Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

T Saengkaew , G Ruiz-Babot , A David , A Mancini , K Mariniello , CP Cabrera , MR Barnes , L Dunkel , L Guasti , SR Howard

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920https://www.nature.com/articles/s41525-021-00274-wBrief Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...

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ey0016.7-5 | Genetics of Puberty | ESPEYB16

7.5. EAP1 regulation of GnRH promoter activity is important for human pubertal timing

A Mancini , SR Howard , CP Cabrera , MR Barnes , A David , K Wehkalampi , S Heger , A Lomniczi , L Guasti , SR Ojeda , L Dunkel

To read the full abstract: Hum Mol Genet. 2019 Apr 15;28(8):13571368.This whole-exome study from a large cohort of familial self-limited delayed puberty identifies the first EAP1 mutations leading to reduced GnRH transcriptional activity and resulting in a phenotype of self-limited delayed-puberty.Enhanced at puberty 1 (EAP1) is a nuclear trans...

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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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ESPE Yearbook of Paediatric Endocrinology

7.1. Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

7.5. EAP1 regulation of GnRH promoter activity is important for human pubertal timing

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

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