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. A functional variant of CD40 modulates clearance of hepatitis B virus in hepatocytes via regulation of the ANXA2/CD40/BST2 axis |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 8 作者:Chen J. | |
| More than 250 million people in the world are chronically infected with hepatitis B virus (HBV), whi |
| 2. A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss: functional characterization of the C-terminal domain in LMX1A |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 8 作者:Xiao M. | |
| Non-syndromic sensorineural hearing loss (NSHL) is a group of genetically heterogeneous conditions w |
| 3. Human TrkAR649Wmutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 8 作者:Pacifico P. | |
| A functional nerve growth factor NGF-Tropomyosin Receptor kinase A (TrkA) system is an essential req |
| 4. Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 8 作者:Enkhjargal S. | |
| Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder caused by fukutin ( |
| 5. Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550 |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 1 作者:Lee Y. | |
| Huntington's disease (HD) is a neurodegenerative disorder caused by an inherited unstable HTT CAG re |
| 6. Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 11 作者:Ojala K.S. | |
| Spinal muscular atrophy (SMA) is a monogenic disease that clinically manifests as severe muscle weak |
| 7. Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 9 作者:Rizvi M. | |
| Congenital myasthenic syndrome (CMS) is a heterogeneous condition associated with 34 different genes |
| 8. Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet-Biedl syndrome-like ciliary defects |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 19 作者:Tasaki K. | |
| Owing to their crucial roles in development and homeostasis, defects in cilia cause ciliopathies wit |
| 9. A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 14 作者:Aburayyan A. | |
| [No abstract available] |
| 10. Derivation of a minimal functional XIST by combining human and mouse interaction domains |
| [外文期刊] 刊名:《Human Molecular Genetics》 2023 , Volume 32 , Number 8 作者:Navarro-Cobos M.J. | |
| X-inactive specific transcript (XIST) is a 17-19 kb long non-coding ribonucleic acid (RNA) critical |