ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 6 results

ey0019.2-12 | Neonatal diabetes mellitus | ESPEYB19

2.12. Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes

G Dalgin , AK Tryba , AP Cohen , SY Park , LH Philipson , SAW Greeley , AJ 3rd Garcia

Sci Rep. 2021 Nov 3;11(1):21590. doi: 10.1038/s41598-021-00939-7. PMID: 34732776.Brief Summary: This study describes the molecular and electrophysiological analysis of the cerebral network generated from cerebral organoids from human induced pluripotent stem cells (hiPSCs) on a patient with neonatal diabetes mellitus due to a KCNJ11 mutation. Some patients w...
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ey0018.2-8 | Neonatal diabetes mellitus | ESPEYB18

2.8. Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

P Bowman , F Mathews , F Barbetti , MH Shepherd , J Sanchez , B Piccini , J Beltrand , LR Letourneau-Freiberg , M Polak , SAW Greeley , E Rawlins , T Babiker , NJ Thomas , E De Franco , S Ellard , SE Flanagan , AT Hattersley , Neonatal Diabetes International Collaborative Group

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...
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ey0015.2-11 | FOXP3 mutations lead to early onset diabetes mellitus with no other clinical manifestations | ESPEYB15

FOXP3 mutations can lead to early onset diabetes mellitus with no other clinical manifestations

JL Hwang , SY Park , H Ye , M Sanyoura , AN Pastore , D Carmody , D Del Gaudio , JF Wilson , CL Hanis , X Liu , G Atzmon , B Glaser , LH Philipson , SAW Greeley , Consortium T2D-Genes

To read the full abstract: Pediatr Diabetes. 2018 May;19(3):388-392Mutations in FOXP3 are associated with a severe, early-onset, autoimmunity syndrome known in males known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked; OMIM [Online Mendelian Inheritance in Man] 304930). The gene maps to chromosome Xp11.23 and encodes a 431–amino acid protein, also named &#8216...
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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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ey0016.2-2 | Neonatal Hypoglycaemia | ESPEYB16

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

KL Yap , AEK Johnson , D Fischer , P Kandikatla , J Deml , V Nelakuditi , S Halbach , GS Jeha , LC Burrage , O Bodamer , VC Benavides , AM Lewis , S Ellard , P Shah , D Cody , A Diaz , A Devarajan , L Truong , SAW Greeley , DD De Leon , AC Edmondson , S Das , P Thornton , D Waggoner , D Del Gaudio

To read the full abstract: Genet Med. 2019 Jan;21(1):233–242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...
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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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