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. Aberrant recombination involving the granzyme locus occurs in Atm-/- T-cell lymphomas. |
| [外文期刊] 刊名:《Human Molecular Genetics》 2005 , Volume 14 , Number 18 作者:Winrow CJ | |
| Ataxia telangiectasia (A-T) is an autosomal recessive disease caused by loss of function of the seri |
| 2. Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3. |
| [外文期刊] 刊名:《Human Molecular Genetics》 2009 , Volume 18 , Number 24 作者:Jung J | |
| Protein cleavage is a common feature in human neurodegenerative disease. Ataxin-3 protein with an ex |
| 3. Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation. |
| [外文期刊] 刊名:《Human Molecular Genetics》 2011 , Volume 20 , Number 2 作者:AbouAlaiwi WA | |
| Autosomal-dominant polycystic kidney disease (ADPKD) is the most common hereditary and systemic diso |
| 4. Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies. |
| [外文期刊] 刊名:《Human Molecular Genetics》 2006 , Volume 15 , Number 2 作者:Xu DQ | |
| Exonic splicing enhancers (ESEs) are sequences that facilitate recognition of splice sites and preve |
| 5. Germline mutations in the neurofibromatosis type 2 tumour suppressor gene |
| [外文期刊] 刊名:《Human Molecular Genetics》 1994 , Volume 3 , Number 5 作者:DavidBourn | |
| The recent identification of the NF2 tumour suppressor gene has enabled large scale screening for pa |
| 6. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing |
| [外文期刊] 刊名:《Human Molecular Genetics》 1994 , Volume 3 , Number 1 作者:Susan E.Andrew | |
| The polymorphic CAG repeat that is expanded on Huntington disease (HD) chromosomes is flanked by a C |
| 7. Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway |
| [外文期刊] 刊名:《Human Molecular Genetics》 2012 , Volume 21 , Number 1 | |
| The transcription factor T-cell factor 7-like 2 (TCF7L2) confers type 2 diabetes risk mainly through |
| 8. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP |
| [外文期刊] 刊名:《Human Molecular Genetics》 2014 , Volume 23 , Number 4 作者:Shi,C.-H. | |
| Gordon Holmes syndrome (GHS) is a rare Mendelian neurodegenerative disorder characterized by ataxia |
| 9. Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome |
| [外文期刊] 刊名:《Human Molecular Genetics》 1994 , Volume 3 , Number 1 作者:Henry H. Q.Heng | |
| General transcription factors are required for accurate initiation of transcrlption by RNA polymeras |
| 10. Topoisomerase 1 inhibitor topotecan delays the disease progression in a mouse model of Huntington's disease |
| [外文期刊] 刊名:《Human Molecular Genetics》 2017 , Volume 26 , Number 2 作者:Shekhar, Shashi | |
| Huntington's disease (HD) is a dominantly inherited progressive neurodegenerative disorder caused by |