2025-01-18 每日论文

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arXiv	arXiv
bioRxiv	bioRxiv
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arXiv

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bioRxiv

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关于全基因组关联研究中表型的遗传起源：用于探索仅加性等位基因效应或加性与非加性等位基因效应的SNP分配估计遗传力工具（SAFE-h2）

在现代遗传学研究中，全基因组关联研究（GWAS）已成为揭示复杂性状遗传基础的重要方法。然而，理解表型变异的遗传起源仍然是一个挑战。本文介绍了一种名为SNP分配估计遗传力工具（SAFE-h2）的新方法，旨在探索仅加性等位基因效应或加性与非加性等位基因效应对表型的影响。

SAFE-h2工具通过分析单核苷酸多态性（SNP）的分配，帮助研究人员更准确地估计遗传力。遗传力是指遗传因素在表型变异中所占的比例，通常分为加性遗传力和非加性遗传力。加性遗传力主要反映等位基因的简单累加效应，而非加性遗传力则涉及等位基因之间的相互作用，如显性和上位效应。

使用SAFE-h2工具，研究人员可以区分和量化这些不同类型的遗传效应，从而更全面地理解复杂性状的遗传结构。这不仅有助于揭示疾病的遗传基础，还能为个性化医疗和精准农业提供重要的遗传信息。

通过聚乙烯醇水凝胶珠固定的集胞藻PCC 6803实现持续异丁烯生产

翻译说明： - "Sustained" 翻译为“持续的”。 - "Isobutene" 是“异丁烯”，一种有机化合物。 - "Synechocystis sp. PCC 6803" 是一种蓝藻（集胞藻），PCC 6803 是其菌株编号。 - "Entrapped" 翻译为“固定的”或“包埋的”。 - "Polyvinyl Alcohol Hydrogel Beads" 是“聚乙烯醇水凝胶珠”，一种常用于固定微生物的材料。

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《浮萍科浮萍属Alatae组的基因组多样性与系统发育，包括推测的物种Lemna aequinoctialis、Le. perpusilla和Le. aoukikusa》

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早期阶段：
外分泌功能：胰腺外分泌功能开始出现轻微下降，腺泡细胞逐渐减少，导管系统出现轻微扩张。
内分泌功能：胰岛细胞数量保持相对稳定，胰岛素分泌功能正常。
中期阶段：
外分泌功能：腺泡细胞进一步减少，导管系统显著扩张，纤维化开始出现，外分泌功能明显下降。
内分泌功能：胰岛细胞数量开始减少，胰岛素分泌功能出现轻微下降。
晚期阶段：
外分泌功能：腺泡细胞几乎完全消失，导管系统严重扩张，纤维化广泛存在，外分泌功能严重受损。
内分泌功能：胰岛细胞数量显著减少，胰岛素分泌功能严重下降，可能出现糖尿病症状。

摘要：本研究通过生物信息学方法对STAT1基因的非编码UTR（非翻译区）变异进行了深入分析，揭示了这些变异如何影响miRNA的结合、mRNA的稳定性以及潜在的致癌作用。研究发现，特定的UTR变异可能破坏miRNA与mRNA的正常结合，导致mRNA稳定性下降，进而可能促进肿瘤的发生和发展。这些发现为理解STAT1基因在癌症中的作用提供了新的视角，并为未来的癌症治疗策略提供了潜在的理论依据。 | Kamal, E. | PDF | N/A | Bioinformatics Analysis of Non-Coding UTR Variants in STAT1 Reveals Disruption of miRNA Binding, mRNA Stability, and Oncogenic Potential | | KILDA：从kmer中识别KIV-2重复序列 | Molitor, C. | PDF | N/A | KILDA: identifying KIV-2 repeats from kmers | | 阴离子脂质催化生成具有细胞毒性的胰岛素寡聚体。 | Saha, J. | PDF | N/A | Anionic lipid catalyzes the generation of cytotoxic insulin oligomers | | 原子力显微镜揭示了小鼠和人类卵母细胞中与皮质结构相关的机械特性差异。 | Bulteau, R. | PDF | N/A | Atomic Force Microscopy reveals differences in mechanical properties linked to cortical structure in mouse and human oocytes | | 异速生长扩散和焦点粘附集体组织是由细胞尺度的几何约束协调的。 | Bimbard, C. | PDF | N/A | Allometric spreading and focal adhesion collective organization are coordinated by cell-scale geometrical constraints | | 温度跃迁法：一种筛选选择性、慢结合和紧密结合抑制剂的方法，针对处于非天然状态的激酶。 | Suzuki, S. | PDF | N/A | Temperature vaulting: A method for screening selective, slow- and tight-binding inhibitors targeting kinases in their non-native state | | 为大鼠（Rattus norvegicus）使用Void Whizzard的空斑测定可视化优化 | Ruetten, H. | PDF | N/A | Void spot assay visualization optimization for use of Void Whizzard in rats (Rattus norvegicus) | | 核质Lamin A/C通过调节局部H3K9me3和ADP-核糖基化水平来控制应激条件下的复制叉重启。 | Cherdyntseva, V. | PDF | N/A | Nucleoplasmic Lamin A/C controls replication fork restart upon stress by modulating local H3K9me3 and ADP-ribosylation levels | | 假单胞菌（Pseudomonas putida）KT2440中的ISPpu9插入序列能够生成各种环状中间体，从而实现模块化转座。 | Pares-Guillen, E. | PDF | N/A | The ISPpu9 insertion sequence of Pseudomonas putida KT2440 generates various circular intermediates enabling modular transposition | | REV7与ATRIP结合并抑制ATR激酶活性。 | Biller, M. | PDF | N/A | REV7 associates with ATRIP and inhibits ATR kinase activity | | 负频率依赖性选择有助于丁香假单胞菌效应器库的模块化结构 | Li, S. | PDF | N/A | Negative frequency-dependent selection contributes to modular structure of effector repertoires in Pseudomonas syringae | | 检测植物共生体在两个自然环境梯度中的分化情况 | Chang, C.-Y. | PDF | N/A | Testing for divergence in a plant symbiont across two natural environmental gradients |

medRxiv

标题	作者	PDF链接	代码仓库	Title
大规模血清流行病学研究揭示了存在tau蛋白自身免疫的人群中的肾脏病理学问题。	Magalhaes, A. D.	PDF	N/A	Large-scale seroepidemiology uncovers nephrological pathologies in people with tau autoimmunity
精神分裂症患者中，言语诱导抑制受损预示着听觉言语幻觉的发生	Tan, S.	PDF	N/A	Impaired speaking-induced suppression in schizophrenia predicts auditory verbal hallucinations
与rTMS诱导的书写痉挛性肌张力障碍患者书写改善相关的运动网络重组	Bukhari-Parlakturk, N.	PDF	N/A	Motor network reorganization associated with rTMS-induced writing improvement in writer's cramp dystonia
早期生活中的传染病暴露、“卫生假说”与寿命：来自钩虫的证据	Lawton, R.	PDF	N/A	Early-life infectious disease exposure, the 'hygiene hypothesis', and lifespan: evidence from hookworm
在97名梅尼埃病患者的 multicenter registry 中，简短版 Speech, Spatial and Qualities of Hearing Scale 的适用性	Spiegel, J. L.	PDF	N/A	Applicability of a short form of the Speech, Spatial and Qualities of Hearing Scale in 97 individuals with Meniere's disease in a multicenter registry
满足慢性病青少年及其父母在从儿科向成人护理共同过渡中的需求并确定支持措施：范围界定审查协议	Maini, P.	PDF	N/A	Addressing the Needs and Identifying Supports for Parents of Chronically Ill Adolescents and Young Adults in their Shared Transition from Pediatric to Adult Care: A Scoping Review Protocol
在携带m.3243A>G突变的患者中，自体间血管母细胞的动脉内移植是安全的：首项I/II期人类临床研究	van Tienen, F. H. J.	PDF	N/A	Intra-arterial transplantation of autologous mesoangioblasts in m.3243A>G mutation carriers is safe: first phase I/II human clinical study
物理治疗师对后疫情时代肌肉骨骼疾病患者远程康复的认知	McLaughlin, K. H.	PDF	N/A	Physical therapists' perceptions of telerehabilitation for patients with musculoskeletal conditions in a post-pandemic world
以下是将这段英文翻译成中文的结果：

与未婚青少年意外怀孕相关的因素及利用移动货币商店的潜力：乌干达东部的一项横断面研究

希望这个翻译对你有帮助！ | Komasawa, M. | PDF | N/A | Factors associated with unintended pregnancies among unmarried adolescents and the potential of using mobile money shops: A Cross-sectional study in Eastern Uganda | | 阐明在患有注意力缺陷/多动障碍（ADHD）、对立违抗性障碍（ODD）和强迫症（OCD）诊断的青春期前儿童中，功能性磁共振成像（fMRI）复杂性的独特和共同模式。 | Zhang, R. | PDF | N/A | Elucidating distinct and common fMRI-complexity patterns in pre-adolescent children with Attention-Deficit/Hyperactivity Disorder, Oppositional Defiant Disorder, and Obsessive-Compulsive Disorder diagnoses | | 卢旺达东部锡石（锡矿）矿工中矽肺病患病率及相关职业风险因素：一项针对在职和退休矿工群体的采矿实践与风险的横断面分析 | Hatfield, S. | PDF | N/A | Silicosis Prevalence and Associated Occupational Risk Factors Among Cassiterite (Tin Ore) Miners in Eastern Rwanda: A Cross-Sectional Analysis of Mining Practice and Risk in an Active and Retired Mining Cohort | | 以下是这段英文的中文翻译：

受者细胞是成人镰状细胞病（SCD）患者移植失败和混合嵌合后血液系统恶性肿瘤的来源

翻译说明： - Recipient Cells：受者细胞，指接受移植的患者自身的细胞。 - Hematologic Malignancies：血液系统恶性肿瘤，包括白血病、淋巴瘤等。 - Graft Failure：移植失败，指移植的细胞未能成功植入或发挥功能。 - Mixed Chimerism：混合嵌合，指受者体内同时存在供者和受者来源的细胞。 - SCD：镰状细胞病（Sickle Cell Disease），一种遗传性血液疾病。

镇静剂选择用于插管的随机试验（RSI）的研究方案和统计分析计划