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Clinical Observation of a Rare Binder Phenotype With Fetal Overgrowth Due to a SPIN4 Mutation
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作者 Noopur Chawla Meenakshi Rajput +2 位作者 Rhea Shriyan Sumitra Bachani Aprajita Gupta 《Maternal-Fetal Medicine》 2025年第4期258-259,共2页
Large for gestational age(LGA)infants—defined as those with birth weight above the 97th percentile—constitute approximately 3%of all newborns.The genetic underpinnings of LGA are increasingly recognized,with associa... Large for gestational age(LGA)infants—defined as those with birth weight above the 97th percentile—constitute approximately 3%of all newborns.The genetic underpinnings of LGA are increasingly recognized,with associations reported in rare syndromes such as Pallister-Killian syndrome and Beckwith-Wiedemann syndrome.These disorders typically manifest as generalized or segmental overgrowth during the fetal and/or childhood period,frequently accompanied by tall stature,visceromegaly,and macrocephaly. 展开更多
关键词 Phenotype Overgrowth syndrome Lui Jee Baron syndrome spin4 gene Epigenetics
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基于生物信息学与机器学习探索多囊卵巢综合征关键基因及临床验证与中药靶向预测
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作者 张红阳 王钦鹏 +1 位作者 王晓姗 王勇淅 《中草药》 2025年第23期8654-8668,共15页
目的基于生物信息学与机器学习方法探讨多囊卵巢综合征(polycystic ovary syndrome,PCOS)关键基因,并在临床水平进行验证,同时筛选对相关基因起调控作用的中药。方法应用GEO数据库获取4个数据集,使用R软件包“Limma”和加权基因共表达... 目的基于生物信息学与机器学习方法探讨多囊卵巢综合征(polycystic ovary syndrome,PCOS)关键基因,并在临床水平进行验证,同时筛选对相关基因起调控作用的中药。方法应用GEO数据库获取4个数据集,使用R软件包“Limma”和加权基因共表达网络分析(weighted gene co-expression network analysis,WGCNA)筛选PCOS组与健康对照组的差异表达基因,并对其进行功能富集和细胞免疫浸润分析。应用机器学习算法获取PCOS关键基因,绘制列线图,建立受试者工作特征(receiver operator characteristic,ROC)曲线评估列线图与每个关键基因识别PCOS的能力及特异性和敏感性。收集临床PCOS患者外周血单个核细胞,对关键基因表达量与PCOS识别情况进行临床验证。通过COREMINE数据库、古今医案云平台预测潜在调控PCOS的中药,并分析其性味归经及功效。结果4个数据集共获得42个样本,其中PCOS组21个样本,健康对照组21个样本。共获得差异基因127个,基因本体(gene ontology,GO)分析显示差异基因与肾上腺髓质素受体信号过程、细胞间桥、类固醇结合等有关;京都基因与基因组百科全书(Kyoto encyclopedia of genes and genomes,KEGG)分析显示差异基因与核因子-κB(nuclear factor-κB,NF-κB)介导的肿瘤坏死因子-α(tumor necrosis factor-α,TNF-α)信号传导、血管生成、白细胞介素-2(interleukin-2,IL-2)-信号转导和转录激活因子5(signal transducer and activator of transcription 5,STAT5)信号等相关。进一步进行细胞免疫浸润,发现PCOS组γδT细胞、单核细胞、激活的肥大细胞水平升高,浆细胞、CD4初始T细胞、激活的自然杀伤(natural killer,NK)细胞水平降低。最小绝对收缩和选择算子(logistic least absolute shrinkage and selection operator,LASSO)-Cox比例风险模型(Cox proportional-hazards model,COX)回归筛选11个关键靶点,包括AK4、DEPP1、DUOX2、FGG、GAREM1、PLOD2、SLC41A2、SPIN4、THNSL1、TMEM187、ZNF443,PCOS组关键基因的表达量均低于对照组(P<0.05),单个关键基因识别PCOS的曲线下面积(area under urve,AUC)为0.76~0.90,诺莫图识别PCOS的AUC为0.98。临床数据验证共纳入PCOS组12例,健康对照组12例,PCOS组AK4、ZNF443、DUOX2、DEPP1、FGG、SLC41A2、SPIN4与TMEM187的基因表达量均低于健康对照组(P<0.05),应用诺莫图验证对PCOS的识别,AUC为1。预测到与差异基因相关的中药85味,中药的四气以寒、温、平为主,五味以苦、甘、辛味为主,归经以肝、肺、胃经为主,功效以清热解毒、理气为主。结论AK4、DEPP1、DUOX2、FGG、GAREM1、PLOD2、SLC41A2、SPIN4、THNSL1、TMEM187、ZNF443可能是识别PCOS的潜在关键生物标志物以及对潜在治疗中药的预测二者为PCOS的诊断和治疗提供了新思路。 展开更多
关键词 多囊卵巢综合征 生物信息学、机器学习 临床验证 中药预测 AK4 ZNF443 DUOX2 DEPP1 FGG SLC41A2 spin4 TMEM187
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Achieving a high magnetization in sub-nanostructured magnetite films by spin-flipping of tetrahedral Fe3. cations
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作者 Tun Seng Herng Wen Xiao +12 位作者 Sock Mui Poh Feizhou He Ronny Sutarto Xiaojian Zhu Runwei Li Xinmao Yin Caozheng Diao Yang Yang Xuelian Huang Xiaojiang Yu Yuan Ping Feng AndrivoRusydi Jun Ding 《Nano Research》 SCIE EI CAS CSCD 2015年第9期2935-2945,共11页
Magnetite Fe304 (ferrite) has attracted considerable interest for its exceptional physical properties: It is predicted to be a semimetallic ferromagnetic with a high Curie temperature, it displays a metal-insulator... Magnetite Fe304 (ferrite) has attracted considerable interest for its exceptional physical properties: It is predicted to be a semimetallic ferromagnetic with a high Curie temperature, it displays a metal-insulator transition, and has potential oxide-electronics applications. Here, we fabricate a high-magnetization (〉 1 Tesla) high-resistance (-0.1 Ωcm) sub-nanostructured (grain size 〈 3 nm) Fe304 film via grain-size control and nano-engineering. We report a new phenomenon of spin- flipping of the valence-spin tetrahedral FeB* in the sub-nanostructured Fe304 film, which produces the high magnetization. Using soft X-ray magnetic circular dichroism and soft X-ray absorption, both at the Fe L3,2- and O K-edges, and supported by first-principles and charge-transfer multiple calculations, we observe an anomalous enhancement of double exchange, accompanied by a suppression of the superexchange interactions because of the spin-flipping mechanism via oxygen at the grain boundaries. Our result may open avenues for developing spin- manipulated giant magnetic Fe304-based compounds via nano-grain size control. 展开更多
关键词 magnetite X—ray magnetic circulardichroism(XMCD) giant magnetization nanosuctured—Fe3O4 ferrite spin—flipping
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