期刊信息
| Human Molecular Genetics | |
| 印刷版ISSN： | 0964-6906 |
| 电子版ISSN： | 1460-2083 |
| 出版者： | Oxford University Press |
| 国家： | United Kingdom |
| 状态： | Active |
| 创刊年： | 1992 |
| 周期： | 26 times a year |
| 类型： | Journal; Academic/Scholarly |
| 语种： | Text in English |
| 学科： | BIOLOGY - GENETICS; MEDICAL SCIENCES |
| 期刊URL： | 链接地址 |
| 来源： | oxford |
| 中图分类号： | 医学、卫生 |
| 收录机构： | SCI SCI SCI |
《Human Molecular Genetics》
| 刊内检索 |
| 1. Electronic health records: the next wave of complex disease genetics |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number Special Review 1 作者:Wolford, Brooke N. | |
| The combination of electronic health records (EHRs) with genetic data has ushered in the next wave o |
| 2. Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 22 作者:Mordaunt, Charles E. | |
| Wilson disease (WD) is caused by mutations in the copper transporter ATP7B, leading to copper accumu |
| 3. In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 22 作者:Uenaka, Takeshi | |
| Parkinson's disease (PD) is a neurodegenerative disorder characterized by dopaminergic neuron loss. |
| 4. CHEK1 coordinates DNA damage signaling and meiotic progression in the male germline of mice |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 7 作者:Abe, Hironori | |
| The continuity of life depends on mechanisms in the germline that ensure the integrity of the genome |
| 5. The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6 (vol 26, pg 4465, 2017) |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 7 作者:Sacristan-Reviriego, Almudena | |
| 6. Identification of distinct conformations associated with monomers and fibril assemblies of mutant huntingtin |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 13 作者:Ko, Jan | |
| The N-terminal fragments of mutant huntingtin (mHTT) misfold and assemble into oligomers, which ulti |
| 7. A tri-serine cluster within the topoisomerase II alpha-interaction domain of the BLM helicase is required for regulating chromosome breakage in human cells |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 7 作者:Behnfeldt, Julia Harris | |
| The recQ-like helicase BLM interacts directly with topoisomerase II alpha to regulate chromosome bre |
| 8. In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 1 作者:Burstein, S. R. | |
| Mutations in coiled-coil-helix-coiled-coil-helix-domain containing 10 (CHCHD10), a mitochondrial twi |
| 9. MyD88 is required for satellite cell-mediated myofiber regeneration in dystrophin-deficient mdx mice |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 19 作者:Gallot, Yann S. | |
| Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, leads to severe muscl |
| 10. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder |
| [外文期刊] 刊名:《Human Molecular Genetics》 2018 , Volume 27 , Number 14 作者:Liu, Ning | |
| The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of e |