Impaired cortical development and translational control in a missense mouse model of DDX3X syndrome [0.03%]
DDX3X综合征错义鼠模型中皮质发育障碍和翻译控制缺陷
Abigail J Poff,Nicole D Moss,Debra L Silver
Abigail J Poff
Heterozygous mutations in the X-linked RNA helicase DDX3X cause DDX3X syndrome, a rare neurodevelopmental disorder associated with cortical malformations and autism spectrum disorder. Among ∼200 known DDX3X variants, half are missense, whi...
Emerging toxicological awareness of per- and polyfluoroalkyl substances: the rising concern over 'forever chemicals' [0.03%]
新兴的全氟和多氟化合物毒理学认知：“永恒化学物”的担忧与日俱增
Jamie C DeWitt,Gretta Goldenman,Rainer Lohmann et al.
Jamie C DeWitt et al.
Per- and polyfluoroalkyl substances (PFAS) are often called 'forever chemicals'. This colloquialism reflects that many PFAS are recalcitrant to environmental and metabolic degradation, leading to long environmental and biological half-lives...
Generation and characterization of Col6a1 knock-in mice: A promising pre-clinical model for collagen VI-Related dystrophies [0.03%]
Col6a1基因敲入小鼠的建立与鉴定及对该模型胶原VI相关性肌营养不良的诱导与分析
Arístides López-Márquez,Carmen Badosa,Lluis Enjuanes-Ruiz et al.
Arístides López-Márquez et al.
Collagen VI Related Dystrophies (COL6-RD) are congenital muscle diseases, typically inherited as an autosomal dominant trait. A frequent type of mutation involves glycine substitutions in the triple helical domain of collagen VI alpha chain...
Fbrsl1 is required for cranial neural crest development and reflects a conserved function of the human disease-associated protein [0.03%]
Fbrs1l在颅神经 crest发育中的作用以及与人类疾病相关蛋白保守功能的反映
Sarah Gerstner,Hanna Berger-Santangelo,Gina Kastens et al.
Sarah Gerstner et al.
We recently identified a rare complex syndrome with craniofacial malformations caused by truncating variants in fibrosin-like 1 (FBRSL1). To investigate the function of Fbrsl1 in craniofacial development, we used the Xenopus laevis model to...
Identification of conserved residues essential for the ciliogenic functions of WDPCP [0.03%]
鉴定对WDPCP具有纤毛发生功能的重要保守氨基酸残基
Yeon Ja Choi,Sungbo Hwang,Chanjae Lee et al.
Yeon Ja Choi et al.
Here, we report a genetically engineered mouse model expressing a mutant Wdpcp gene that harbors a deletion of two codons encoding D481 and W482 that correspond to N512 and W513 in human WDPCP. Homozygous mutant mice, designated as Wdpcp-Z1...
Autophagy inhibition in intestinal stem cells favors enteroendocrine cell differentiation through Stat92E activity [0.03%]
肠道干细胞中自噬抑制通过Stat92E活性促进肠内分泌细胞分化
Camille Lacarrière-Keïta,Sonya Nassari,Jessica Boutet et al.
Camille Lacarrière-Keïta et al.
Because the intestinal epithelium is exposed to various stressors, dysregulation of essential mechanisms that maintain gut homeostasis, such as autophagy, has been linked to inflammatory bowel pathologies. In Drosophila melanogaster, inhibi...
An education in tolerance: the 2025 Nobel Prize in Physiology or Medicine [0.03%]
包容之道——2025年诺贝尔生理学或医学奖演讲
Adrian Liston
Adrian Liston
The 2025 Nobel Prize in Physiology or Medicine has been awarded to Mary Brunkow, Fred Ramsdell and Shimon Sakaguchi "for their discoveries concerning peripheral immune tolerance". This award celebrates research into the mechanisms by which ...
Building a framework for reproducibility: the case for standardized data reporting and metadata integration in zebrafish research [0.03%]
建立可重复性的框架：斑马鱼研究中标准化数据报告和元数据集成的案例分析
Mee S Ngu,Sabrina Toro,Alexa Burger et al.
Mee S Ngu et al.
Zebrafish (Danio rerio) is a leading vertebrate model that has greatly advanced research across fields such as developmental biology, toxicology, immunology and genetics. The rapid generation of high-throughput datasets fueled by advances i...
Cerebellar organoids model cell type-specific FOXP2 expression during human cerebellar development [0.03%]
小脑类器官模型人小脑发育过程中FOXP2的细胞类型特异性表达
Elizabeth J Apsley,Joey Riepsaame,Yin Chun Cheng et al.
Elizabeth J Apsley et al.
Human cerebellar development is unique and cannot be fully replicated in animal models. Although human stem cell-derived cerebellar organoid models are increasingly being applied to model cerebellar diseases, their potential to provide insi...