ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 5 results

ey0018.1-6 | Development/Ontogeny | ESPEYB18

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

C Huisman , YA Kim , S Jeon , B Shin , J Choi , SJ Lim , SM Youn , Y Park , K C M , S Kim , SK Lee , S Lee , JW Lee

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...
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ey0015.3-13 | Thyroid stem cells | ESPEYB15

3.13 Pluripotent stem cell differentiation reveals distinct developmental pathways regulating lung- versus thyroid-lineage specification

M Serra , KD Alysandratos , F Hawkins , KB McCauley , A Jacob , J Choi , IS Caballero , M Vedaie , AA Kurmann , L Ikonomou , AN Hollenberg , JM Shannon , DN Kotton

To read the full abstract: Development 2017;144:3879-3893Regenerative medicine techniques are being widely investigated for organs without regenerative capacity, such as lung. Whether pluripotent stem cell derived thyroid organoids will be used in the future as a regenerative medicine approach to treat hypothyroidism is unclear. In the context of an easily available, very cheap and non-in...
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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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ey0015.8-1 | Mechanism of the Year | ESPEYB15

8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II

UI Scholl , G Stölting , J Schewe , A Thiel , H Tan , C Nelson-Williams , AA Vichot , SC Jin , E Loring , V Untiet , T Yoo , J Choi , S Xu , A Wu , M Kirchner , P Mertins , LC Rump , AM Onder , C Gamble , D McKenney , RW Lash , DP Jones , G Chune , P Gagliardi , M Choi , R Gordon , M Stowasser , C Fahlke , RP Lifton

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...
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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 Children’s Hospital and funded by Mila’s 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
ISSN 1662-4009 (Online)
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