ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 3 results

ey0015.10-1 | Aetiology and heterogeneity of type 1 diabetes | ESPEYB15

10.1 TCF7L2 genetic variants contribute to phenotypic heterogeneity of T1DM

MJ Redondo , S Geyer , AK Steck , J Sosenko , M Anderson , P Antinozzi , A Michels , J Wentworth , P Xu , A Pugliese , T1DM TrialNet Study Group

To read the full abstract: Diabetes Care. 2018;41:311-317Some researchers assume that the etiology of T1DM is distinct from that of Type 2 diabetes mellitus. T1DM is characterized by autoimmune phenomena leading to the destruction of pancreatic islets and most importantly of beta-cells. Genetic factors are thought to influence the likelihood of autoimmune phenomena developing into overt autoimmune di...
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ey0019.10-2 | Reviews | ESPEYB19

10.2. Screening for type 1 diabetes in the general population: a status report and perspective

EK Sims , REJ Besser , C Dayan , Rasmussen C Geno , C Greenbaum , KJ Griffin , W Hagopian , M Knip , AE Long , F Martin , C Mathieu , M Rewers , AK Steck , JM Wentworth , SS Rich , O Kordonouri , AG Ziegler , KC Herold

NIDDK Type 1 Diabetes TrialNet Study Group.Diabetes. 2022 Apr 1;71(4):610-623. https://pubmed.ncbi.nlm.nih.gov/35316839/Brief Summary: This is a comprehensive review on general population screening, a current hot topic in the field of type 1 diabetes (T1D). The authors provide a critical overview of the rationale for population screening, arguments for and against it, current efforts to gui...
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ey0019.10-16 | Genetics | ESPEYB19

10.16. Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

CC Robertson , JRJ Inshaw , S Onengut-Gumuscu , WM Chen , Cruz DF Santa , H Yang , AJ Cutler , DJM Crouch , E Farber , SL Jr Bridges , JC Edberg , RP Kimberly , JH Buckner , P Deloukas , J Divers , D Dabelea , JM Lawrence , S Marcovina , AS Shah , CJ Greenbaum , MA Atkinson , PK Gregersen , JR Oksenberg , F Pociot , MJ Rewers , AK Steck , DB; Type 1 Diabetes Genetics Consortium Dunger , LS Wicker , P Concannon , JA Todd , SS Rich

Nat Genet. 2021 Jul;53(7):962-971. https://pubmed.ncbi.nlm.nih.gov/34127860/Brief Summary: The authors report the largest and most diverse genome-wide association study (GWAS) of type 1 diabetes (T1D) to date, including 61,427 participants from different ancestries. It identified 78 significant genomic regions associated with T1D, of which 36 were new. The integration of genetic evidence, f...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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