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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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ey0019.3-13 | Paediatric thyroid cancer | ESPEYB19

3.13. NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake

YA Lee , H Lee , SW Im , YS Song , DY Oh , HJ Kang , JK Won , KC Jung , D Kwon , EJ Chung , JH Hah , JC Paeng , JH Kim , J Choi , OH Kim , JM Oh , BC Ahn , LJ Wirth , CH Shin , JI Kim , YJ Park

J Clin Invest. 2021 Sep 15;131(18):e144847. doi: 10.1172/JCI144847. PMID: 34237031Brief Summary: This retrospective analysis of clinical, pathologic, and genetic characteristics of n=106 children with differentiated thyroid carcinoma (DCT) showed that fusion oncogene associated papillary thyroid carcinoma (PTC) is more frequent in young children and is associated with larger tumors, extrathyroidal ...

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ey0015.14-10 | CRISPR-Cas9 gene therapy | ESPEYB15

14.10 Correction of a pathogenic gene mutation in human embryos

H Ma , N Marti-Gutierrez , SW Park , J Wu , Y Lee , K Suzuki , A Koski , D Ji , T Hayama , R Ahmed , H Darby , C Van Dyken , Y Li , E Kang , AR Park , D Kim , ST Kim , J Gong , Y Gu , X Xu , D Battaglia , SA Krieg , DM Lee , DH Wu , DP Wolf , SB Heitner , JCI Belmonte , P Amato , JS Kim , S Kaul , S Mitalipov

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...

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ey0017.14-8 | (1) | ESPEYB17

14.8. Patient-customized oligonucleotide therapy for a rare genetic disease

J Kim , C Hu , C Moufawad El Achkar , LE Black , J Douville , A Larson , MK Pendergast , SF Goldkind , EA Lee , A Kuniholm , A Soucy , J Vaze , NR Belur , K Fredriksen , I Stojkovska , A Tsytsykova , M Armant , RL DiDonato , J Choi , L Cornelissen , LM Pereira , EF Augustine , CA Genetti , K Dies , B Barton , L Williams , BD Goodlett , BL Riley , A Pasternak , ER Berry , KA Pflock , S Chu , C Reed , K Tyndall , PB Agrawal , AH Beggs , PE Grant , DK Urion , RO Snyder , SE Waisbren , A Poduri , PJ Park , A Patterson , A Biffi , JR Mazzulli , O Bodamer , CB Berde , TW. Yu

To read the full abstract: N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279.This remarkable case report - by authors from Boston Childrens Hospital and funded by Milas Miracle Foundation - describes the development and use of a patient-customised antisense oligonucleotide drug that was tailored specifically against the unique DNA sequence mutation in a 6-ye...

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ESPE Yearbook of Paediatric Endocrinology

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

3.13. NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake

14.10 Correction of a pathogenic gene mutation in human embryos

14.8. Patient-customized oligonucleotide therapy for a rare genetic disease

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