論文 - 詳細
| RRC ID | 74958 |
|---|---|
| 著者 | Dragana J. Josifova, Glen R. Monroe, Federico Tessadori, Esther de Graaff, Bert van der Zwaag, Sarju G. Mehta, Magdalena Harakalova, Karen J. Duran, Sanne M.C. Savelberg, Isaäc J. Nijman, Heinz Jungbluth, Casper C. Hoogenraad, Jeroen Bakkers, Nine V. Knoers, Helen V. Firth, Philip L. Beales, Gijs van Haaften, Mieke M. van Haelst, |
| タイトル | HeterozygousKIDINS220/ARMSnonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity |
| ジャーナル | Human Molecular Genetics |
| 巻・号 | 25 |
| ページ | 2158-2167 |
| 公開日 | 2016-6-1 |
| DOI | 10.1093/hmg/ddw082 |
| PMID | 27005418 |
| MeSH | Alternative Splicing / genetics Animals Codon, Nonsense Disease Models, Animal Humans Intellectual Disability / genetics* Intellectual Disability / physiopathology Membrane Proteins / genetics* Nerve Tissue Proteins / genetics* Neurites / metabolism Neurites / pathology Neurogenesis / genetics Neurons / metabolism Neurons / pathology Nystagmus, Congenital / genetics* Nystagmus, Congenital / physiopathology Obesity / genetics* Obesity / pathology PC12 Cells Paraplegia / genetics* Paraplegia / physiopathology Protein Binding / genetics Rats Signal Transduction Zebrafish Proteins / genetics* |
| IF | 5.101 |
| オルトメトリクス指標 |
オルトメトリクス指標項目
|
| 最多言及媒体 | X(Twitter) |
| 各媒体での言及数の合計 | 9 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| ゼブラフィッシュ | pT2ZUASRFP |