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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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ey0019.15-15 | Basic Science and Genetics | ESPEYB19

15.15. Accurate prediction of protein structures and interactions using a three-track neural network

M Baek , F DiMaio , I Anishchenko , J Dauparas , S Ovchinnikov , GR Lee , J Wang , Q Cong , LN Kinch , RD Schaeffer , C Millan , H Park , C Adams , CR Glassman , A DeGiovanni , JH Pereira , AV Rodrigues , Dijk AA van , AC Ebrecht , DJ Opperman , T Sagmeister , C Buhlheller , T Pavkov-Keller , MK Rathinaswamy , U Dalwadi , CK Yip , JE Burke , KC Garcia , NV Grishin , PD Adams , RJ Read , D Baker

Science. 2021;373(6557):871-6. doi: 10.1126/science.abj8754 PubMed ID: 34282049Brief summary: This study reveals a Deep Learning method, RoseTTA fold, based on DeepMinds Alphafold2 framework, to predict 3-dimensional protein structures from 1-dimensional sequence information and generate models of proteinprotein complexes with high accuracy.Previ...

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ESPE Yearbook of Paediatric Endocrinology

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

15.15. Accurate prediction of protein structures and interactions using a three-track neural network

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