論文 - 詳細
| RRC ID | 85040 |
|---|---|
| 著者 | Helmut Grasberger, Alexandra M. Dumitrescu, Xiao-Hui Liao, Elliott G. Swanson, Roy E. Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Chen, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Mitchell R. Vollger, Andrew B. Stergachis, Jessica X. Chong, Michael J. Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff |
| タイトル | STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179 |
| ジャーナル | Nature Genetics |
| 巻・号 | 56 |
| ページ | 877-888 |
| 公開日 | 2024-5-1 |
| DOI | 10.1038/s41588-024-01717-7 |
| PMID | 38714869 |
| PMC | PMC11472772 |
| MeSH | Animals Chromosomes, Human, Pair 15* / genetics Enhancer Elements, Genetic* Female Humans Male MicroRNAs* / genetics Microsatellite Repeats* / genetics Mutation* Pedigree Primates / genetics Thyroid Gland / metabolism Thyrotropin* / genetics |
| IF | 27.605 |
| リソース情報 | |
| GAIN | Human |