ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 4 results

ey0015.6-6 | New treatments | ESPEYB15

6.6 Hormonal Treatment in Young People With Gender Dysphoria: A Systematic Review

D Chew , J Anderson , K Williams , T May , K Pang

To read the full abstract: Pediatrics. 2018 Apr;141(4)See comment on 6.8....
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ey0019.10-15 | Pathogenesis | ESPEYB19

10.15. Single-cell multi-omics analysis of human pancreatic islets reveals novel cellular states in type 1 diabetes

M Fasolino , GW Schwartz , AR Patil , A Mongia , ML Golson , YJ Wang , A Morgan , C Liu , J Schug , J Liu , M Wu , D Traum , A Kondo , CL May , N Goldman , W Wang , M Feldman , JH Moore , AS Japp , MR Betts , Consortium HPAP , RB Faryabi , A Naji , KH Kaestner , G Vahedi

Nat Metab. 2022 Feb;4(2):284-299. https://pubmed.ncbi.nlm.nih.gov/35228745/Brief Summary: This study used three high-throughput single-cell technologies to generate a pancreatic islet cell atlas from 24 organ donors with type 1 diabetes (T1D), autoantibody positive and healthy donors. The most remarkable finding was that a subset of exocrine ductal cells appears to acquire a signature of to...
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ey0017.2-11 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.11. Update of variants identified in the pancreatic [beta]-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco , C Saint-Martin , K Brusgaard , AE Knight Johnson , L Aguilar-Bryan , P Bowman , JB Arnoux , AR Larsen , S May , Saw Greeley , R Calzada-Leon , B Harman , JAL Houghton , Nishimura-Meguro , TW Laver , S Ellard , D Del Gaudio , HT Christesen , C Bellanne-Chantelot , SE Flanagan

To read the full abstract: Hum Mutat. 2020 May;41(5):884–905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. PMID: 32027066Pancreatic KATPchannels play a key role in regulating insulin secretion. These channels are composed of four subunits of SUR1 and four subunits of KIR6.2 encoded by the ABCC8 and KNCJ11 genes, respectively. Inactivating mutations in these two g...
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ey0016.14-4 | (1) | ESPEYB16

14.4. A reprogramming human T cell function and specificity with non-viral genome targeting

TL Roth , C Puig-Saus , R Yu , E Shifrut , J Carnevale , PJ Li , Hiatt , J Saco , P Krystofinski , H Li , V Tobin , DN Nguyen , MR Lee , AL Putnam , AL Ferris , JW Chen , JN Schickel , L Pellerin , D Carmody , G Alkorta-Aranburu , D Del Gaudio , H Matsumoto , M Morell , Y Mao , M Cho , RM Quadros , CB Gurumurthy , B Smith , M Haugwitz , SH Hughes , JS Weissman , K Schumann , JH Esensten , AP May , A Ashworth , GM Kupfer , SAW Greeley , R Bacchetta , E Meffre , MG Roncarolo , N Romberg , KC Herold , A Ribas , MD Leonetti , A Marson

To read the full abstract: Nature. 2018 Jul;559(7714):405–409This article decries a CRISPR-Cas9 genome-targeting system that does not require viral vectors, allowing rapid and efficient insertion of large DNA sequences at specific sites in the genomes of primary human T cells, while preserving cell viability and function.The common approach to genetically...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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