The pancreatic β cell: Recent insights from human genetics
Diabetes mellitus is a metabolic disease characterised by relative or absolute pancreatic β cell dysfunction. Genetic variants implicated in disease risk can be identified by studying affected individuals. To understand the mechanisms driving genetic associations, variants must be translated through...
| Main Authors: | , |
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| Format: | Journal article |
| Language: | English |
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Cell Press
2014
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| _version_ | 1797073614898462720 |
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| author | Thomsen, S Gloyn, A |
| author_facet | Thomsen, S Gloyn, A |
| author_sort | Thomsen, S |
| collection | OXFORD |
| description | Diabetes mellitus is a metabolic disease characterised by relative or absolute pancreatic β cell dysfunction. Genetic variants implicated in disease risk can be identified by studying affected individuals. To understand the mechanisms driving genetic associations, variants must be translated through causative transcripts to biological insights. Studies into the genetic basis of Mendelian forms of diabetes have successfully identified genes involved in both β cell function and pancreatic development. For type 2 diabetes (T2D), genome-wide association studies (GWASs) are uncovering an ever-increasing number of susceptibility variants that exert their effect through β cell dysfunction, but translation to mechanistic understanding has in most cases been slow. Improved annotations of the islet genome and advances in whole-genome and -exome sequencing (WHS and WES) have facilitated recent progress. © 2014 Elsevier Ltd. |
| first_indexed | 2024-03-06T23:24:34Z |
| format | Journal article |
| id | oxford-uuid:69ea83f6-4277-45ee-bccf-05be321f8be4 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:24:34Z |
| publishDate | 2014 |
| publisher | Cell Press |
| record_format | dspace |
| spelling | oxford-uuid:69ea83f6-4277-45ee-bccf-05be321f8be42022-03-26T18:54:08ZThe pancreatic β cell: Recent insights from human geneticsJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:69ea83f6-4277-45ee-bccf-05be321f8be4EnglishSymplectic Elements at OxfordCell Press2014Thomsen, SGloyn, ADiabetes mellitus is a metabolic disease characterised by relative or absolute pancreatic β cell dysfunction. Genetic variants implicated in disease risk can be identified by studying affected individuals. To understand the mechanisms driving genetic associations, variants must be translated through causative transcripts to biological insights. Studies into the genetic basis of Mendelian forms of diabetes have successfully identified genes involved in both β cell function and pancreatic development. For type 2 diabetes (T2D), genome-wide association studies (GWASs) are uncovering an ever-increasing number of susceptibility variants that exert their effect through β cell dysfunction, but translation to mechanistic understanding has in most cases been slow. Improved annotations of the islet genome and advances in whole-genome and -exome sequencing (WHS and WES) have facilitated recent progress. © 2014 Elsevier Ltd. |
| spellingShingle | Thomsen, S Gloyn, A The pancreatic β cell: Recent insights from human genetics |
| title | The pancreatic β cell: Recent insights from human genetics |
| title_full | The pancreatic β cell: Recent insights from human genetics |
| title_fullStr | The pancreatic β cell: Recent insights from human genetics |
| title_full_unstemmed | The pancreatic β cell: Recent insights from human genetics |
| title_short | The pancreatic β cell: Recent insights from human genetics |
| title_sort | pancreatic β cell recent insights from human genetics |
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