Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity
Conclusions: WES found potentially deleterious rare variants in MODY genes in 8.1% of EOT1D, occurring in the context of a T1D genetic background. Such genetic variants may contribute to disease precipitation by a β-cell dysfunction mechanism. This supports the concept of different endotypes of T1D,...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Journal of Diabetes Research |
| Online Access: | http://dx.doi.org/10.1155/2024/3076895 |
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| _version_ | 1850160209704517632 |
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| author | Andreia Fiúza Ribeiro Ana Laura Fitas Marcela Oliveira Pires Paula Matoso Dário Ligeiro Daniel Sobral Carlos Penha-Gonçalves Jocelyne Demengeot Íris Caramalho Catarina Limbert |
| author_facet | Andreia Fiúza Ribeiro Ana Laura Fitas Marcela Oliveira Pires Paula Matoso Dário Ligeiro Daniel Sobral Carlos Penha-Gonçalves Jocelyne Demengeot Íris Caramalho Catarina Limbert |
| author_sort | Andreia Fiúza Ribeiro |
| collection | DOAJ |
| description | Conclusions: WES found potentially deleterious rare variants in MODY genes in 8.1% of EOT1D, occurring in the context of a T1D genetic background. Such genetic variants may contribute to disease precipitation by a β-cell dysfunction mechanism. This supports the concept of different endotypes of T1D, and WES at T1D onset may be a prerequisite for the implementation of precision therapies in children with autoimmune diabetes. |
| format | Article |
| id | doaj-art-b2777bfd09e14d60ba14bbb7d23120ce |
| institution | OA Journals |
| issn | 2314-6753 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Diabetes Research |
| spelling | doaj-art-b2777bfd09e14d60ba14bbb7d23120ce2025-08-20T02:23:12ZengWileyJournal of Diabetes Research2314-67532024-01-01202410.1155/2024/3076895Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease HeterogeneityAndreia Fiúza Ribeiro0Ana Laura Fitas1Marcela Oliveira Pires2Paula Matoso3Dário Ligeiro4Daniel Sobral5Carlos Penha-Gonçalves6Jocelyne Demengeot7Íris Caramalho8Catarina Limbert9Pediatric Endocrinology UnitPediatric Endocrinology UnitPediatric Endocrinology UnitInstituto Gulbenkian de CiênciaBlood and Transplantation Center of LisbonInstituto Gulbenkian de CiênciaInstituto Gulbenkian de CiênciaInstituto Gulbenkian de CiênciaInstituto Gulbenkian de CiênciaPediatric Endocrinology UnitConclusions: WES found potentially deleterious rare variants in MODY genes in 8.1% of EOT1D, occurring in the context of a T1D genetic background. Such genetic variants may contribute to disease precipitation by a β-cell dysfunction mechanism. This supports the concept of different endotypes of T1D, and WES at T1D onset may be a prerequisite for the implementation of precision therapies in children with autoimmune diabetes.http://dx.doi.org/10.1155/2024/3076895 |
| spellingShingle | Andreia Fiúza Ribeiro Ana Laura Fitas Marcela Oliveira Pires Paula Matoso Dário Ligeiro Daniel Sobral Carlos Penha-Gonçalves Jocelyne Demengeot Íris Caramalho Catarina Limbert Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity Journal of Diabetes Research |
| title | Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity |
| title_full | Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity |
| title_fullStr | Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity |
| title_full_unstemmed | Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity |
| title_short | Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity |
| title_sort | whole exome sequencing in children with type 1 diabetes before age 6 years reveals insights into disease heterogeneity |
| url | http://dx.doi.org/10.1155/2024/3076895 |
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