An antioxidant therapy elicits distinct transcriptome responses in 22q11-deleted upper layer cortical projection neurons [0.03%]
抗氧化治疗诱发22q11基因缺失的皮层投射神经元转录组响应
Shah Rukh,Daniel W Meechan,Abra Roberts et al.
Shah Rukh et al.
We characterized in vitro and in vivo responses to the antioxidant N-acetyl cysteine (NAC), which in the 22q11.2 Deletion Syndrome LgDel mouse model restores growth and connectivity of developing upper layer cortical projection neurons (Lay...
Co-mutations of CTNNB1 and PTEN drive aggressive tumor progression in endometrial cancer [0.03%]
CTNNB1和PTEN的共突变驱动子宫内膜癌向侵袭性肿瘤进展
Shamsun Nahar,Eunhee M Jeong,Keun Cheon Kim et al.
Shamsun Nahar et al.
Endometrioid endometrial cancer (EEC) is the most prevalent gynecological malignancy. While early-stage EEC typically carries a favorable prognosis, late-stage EEC shows significantly poorer outcomes, with a five-year survival rate of only ...
A Drosophila tumor model identifies a conserved Upd-JAK/STAT-Akh signaling axis associated with metabolic changes in cancer cachexia [0.03%]
一个果蝇肿瘤模型确定了一个保守的Upd-JAK/STAT-Akh信号轴与癌症恶病质代谢变化有关
Kewei Yu,Gurpreet S Moroak,Esther M Verheyen
Kewei Yu
Cancer-associated cachexia is a systemic wasting syndrome with no effective therapies, and it results in millions of deaths annually. Here, we established a Drosophila model of cancer cachexia using overexpression of Hipk and constitutively...
Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions [0.03%]
异构体特异性NRXN1缺失的独特和重叠的行为效应
Amanda E Friedman,Michele Perni,Josephine Millard et al.
Amanda E Friedman et al.
Mutations in the human neurexin 1 (NRXN1) gene are associated with neurodevelopmental disorders including autism and schizophrenia. Vertebrate NRXN1 produces three major NRXN1 isoforms, named α, β, and γ. Human genetic data suggest that ...
Clarifying Frizzled 2 function in development through genetically validated mouse models [0.03%]
通过遗传验证的小鼠模型阐明Frizzled 2在发育中的功能
Megan N Michalski,Cassandra R Diegel,Zhendong A Zhong et al.
Megan N Michalski et al.
Wnt receptors of the Frizzled (Fzd) family are widely considered to exhibit substantial functional redundancy, complicating efforts to therapeutically target individual receptors. Fzd2 was believed to be functionally redundant with Fzd1 and...
Transdifferentiated BLaER1 cells as a genetically-tractable model to study the interaction of pathogenic fungi with macrophages [0.03%]
遗传学通路模型研究致病真菌与巨噬细胞相互作用
Johannes Sonnberger,Erik Böhm,Janik Adriana Tomás-Morales et al.
Johannes Sonnberger et al.
Macrophages are essential in the defense against fungal disease. Elucidating antimicrobial mechanisms of macrophages and pathogen activities to evade these phagocytes will help in understanding fungal infections. Existing experimental model...
Loss of endogenous tau suppresses APOE4-induced patterned behavioral decline and axon dysmorphia in a C. elegans model of Alzheimer's disease [0.03%]
tau缺失抑制APOE4诱导的阿尔茨海默病秀丽隐杆线虫模型中的行为模式下降和轴突形态异常
Eric A Cardona,Chelsea J Webber,Zheng Wu et al.
Eric A Cardona et al.
Alzheimer's disease (AD) causes a characteristic spatiotemporal pattern of neurodegeneration. The factors that account for this pattern of degeneration, including associated neuronal dysfunction and dysmorphia, are unclear. Previously, we g...
Namrata Pramod Kulkarni,Aparna Thulasidharan,Amarendranath Soory et al.
Namrata Pramod Kulkarni et al.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive loss of motor function. We have developed a Drosophila model of ALS8 (VAPBP58S) using CRISPR/Cas9 genome editing. VAPB is an ER-based ada...
Multiple mechanisms lead to loss-of-function effects of SARS2 variants: implications for genotype-phenotype analyses [0.03%]
SARS2变异导致功能丧失的多种机制：基因型表型分析的意义
Christina Del Greco,Stephanie M Laureano Figueroa,Anthony Antonellis
Christina Del Greco
Seryl-tRNA synthetase 2 (SARS2) encodes the enzyme responsible for charging tRNA with serine in the mitochondria. SARS2 has been associated with a spectrum of recessive diseases including HUPRA syndrome and progressive spastic paresis (PSP)...
Homocysteine and S-adenosyl-L-homocysteine impair development and methylation in yeast and flies [0.03%]
同型半胱氨酸和S-腺苷-L-同型半胱氨酸损害酵母和果蝇的发育和甲基化
Markus S Brunner,Hansjörg Habisch,Jutta Hafner et al.
Markus S Brunner et al.
S-adenosyl-L-homocysteine (SAH), the product inhibitor of S-adenosyl-L-methionine-dependent methyltransferases, and its degradation product homocysteine (Hcy) are evolutionarily conserved master regulators of methylation metabolism, which i...