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. Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich's ataxia model mice |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 24 作者:Hui, Chun Kiu | |
| Previously we showed that dimethyl fumarate (DMF) dose-dependently increased mitochondrial gene expr |
| 2. Polygenic risk scores for coronary artery disease and subsequent event risk amongst established cases |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 8 作者:Howe, Laurence J. | |
| Background: There is growing evidence that polygenic risk scores (PRSs) can identify individuals wit |
| 3. Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 6 作者:Maynard, Thomas M. | |
| LgDel mice, which model the heterozygous deletion of genes at human chromosome 22q11.2 associated wi |
| 4. Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 16 作者:Banerji, Christopher R. S. | |
| Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant myopathy characterized by slo |
| 5. Integrating DNA sequencing and transcriptomic data for association analyses of low-frequency variants and lipid traits |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 3 作者:Yang, Tianzhong | |
| Transcriptome-wide association studies (TWAS) integrate genome-wide association studies (GWAS) and t |
| 6. Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 22 作者:Aleo, Serena J. | |
| OPA1 mutations are the major cause of dominant optic atrophy (DOA) and the syndromic form DOA plus, |
| 7. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 2 作者:Behne, Robert | |
| Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic parap |
| 8. MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 21 作者:Franck, Silvie | |
| Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene, where expan |
| 9. Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 24 作者:Correll-Tash, Sarah | |
| Genomic instability contributes to a variety of potentially damaging conditions, including DNA-based |
| 10. Functional cross talk between the Fanconi anemia and ATRX/DAXX histone chaperone pathways promotes replication fork recovery |
| [外文期刊] 刊名:《Human Molecular Genetics》 2020 , Volume 29 , Number 7 作者:Raghunandan, Maya | |
| Fanconi anemia (FA) is a chromosome instability syndrome characterized by increased cancer predispos |