Search Results - "Mao, Aiping"

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation by Luo, Shiqiang, Chen, Xingyuan, Zeng, Dingyuan, Tang, Ning, Yuan, Dejian, Zhong, Qingyan, Mao, Aiping, Xu, Ruofan, Yan, Tizhen

“…To compare single-molecule real-time technology (SMRT) and conventional genetic diagnostic technology of rare types of thalassemia mutations, and to analyze…”
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An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping by Zhang, Qianqian, Lin, Peng, Mao, Aiping, Liu, Yongqiong, Shang, Xuan, Wei, Xiaofeng, Li, Yuezhen, Lin, Bin, Xu, Xiangmin

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Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing by Zhuang, Jianlong, Zhang, Na, Zheng, Yu, Jiang, Yuying, Chen, Yu’e, Mao, Aiping, Chen, Chunnuan

“…Hemoglobin (Hb) Lepore is a rare deletional δβ-thalassemia caused by the fusion between delta-beta genes, and cannot be identified by traditional thaltassemia…”
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Analysis of rare thalassemia genetic variants based on third-generation sequencing by Peng, Cuiting, Zhang, Haixia, Ren, Jun, Chen, Han, Du, Ze, Zhao, Tong, Mao, Aiping, Xu, Ruofan, Lu, Yulin, Wang, He, Chen, Xinlian, Liu, Shanling

“…Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia,…”
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LSm14A is a processing body-associated sensor of viral nucleic acids that initiates cellular antiviral response in the early phase of viral infection by Li, Ying, Chen, Rui, Zhou, Qian, Xu, Zhisheng, Li, Chao, Wang, Shuai, Mao, Aiping, Zhang, Xiaodong, He, Weiwu, Shu, Hong-Bing

“…Recognition of viral nucleic acids by pattern recognition receptors initiates type I IFN induction and innate antiviral immune response. Here we show that…”
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Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping by Wang, Hui, Jia, Zhengjun, Mao, Aiping, Xu, Bing, Wang, Shuling, Wang, Li, Liu, Sai, Zhang, Haiman, Zhang, Xiaojie, Yu, Tao, Mu, Ting, Xu, Mengnan, Cram, David S., Yao, Yuanqing

“…Purpose Approximately 1% of individuals who carry a balanced reciprocal translocation (BRT) are subfertile. Current karyotyping does not have the resolution to…”
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Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation by Luo, Shiqiang, Chen, Xingyuan, Zeng, Dingyuan, Tang, Ning, Yuan, Dejian, Zhong, Qingyan, Mao, Aiping, Xu, Ruofan, Yan, Tizhen

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Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China by Yuan, Yan, Zhou, Xia, Deng, Jing, Zhu, Qun, Peng, Zanping, Chen, Liya, Zou, Ya, Mao, Aiping, Meng, Wanli, Ma, Minhui, Wu, Hongliang

“…: Thalassemia is a hereditary blood disease resulting from globin chain synthesis impairment because of α- and/or β-globin gene variants. α-thalassemia is…”
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Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China by Wu, Jiangfen, Xie, Dan, Wang, Lei, Kuang, Ying, Luo, Shulin, Ren, Lingyan, Li, Di, Mao, Aiping, Li, Jiaqi, Chen, Libao, An, Bangquan, Huang, Shengwen

“…To explore the application of third-generation sequencing (TGS) for genetic diagnosis and prenatal genetic screening of thalassemia genes. Two groups of…”
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Third-generation sequencing: A novel tool detects complex variants in the α-thalassemia gene by Long, Ju, Sun, Lei, Gong, Feifei, Zhang, Chenghong, Mao, Aiping, Lu, Yulin, Li, Jiaqi, Liu, Enqi

“…•There are carriers of complex α-globin gene cluster variants.•Conventional technology cannot identify complex genetic structures.•TGS can identify complex…”
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Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing by Liu, Yingdi, Chen, Miaomiao, Liu, Jing, Mao, Aiping, Teng, Yanling, Yan, Huiming, Zhu, Huimin, Li, Zhuo, Liang, Desheng, Wu, Lingqian

“…Abstract Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that has been included in newborn screening programs. Current…”
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Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease by Xu, Dechao, Mao, Aiping, Chen, Libao, Wu, Le, Ma, Yiyi, Mei, Changlin

“…Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by heterogeneous variants in the PKD1 and PKD2 genes. Genetic…”
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Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing by Liang, Qiaowei, Liu, Yingdi, Liu, Yaning, Duan, Ranhui, Meng, Wanli, Zhan, Jiahan, Xia, Jiahui, Mao, Aiping, Liang, Desheng, Wu, Lingqian

“…Fragile X syndrome (FXS) is the most frequent cause of inherited X-linked intellectual disability. Conventional FXS genetic testing methods mainly focus on…”
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Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening by Long, Ju, Yu, Chunhui, Sun, Lei, Peng, Mingkui, Song, Chuanlu, Mao, Aiping, Zhan, Jiahan, Liu, Enqi

“…•CE alone leads to missed detection in some thalassemia genetic variant carriers.•The TGS-based thalassemia analysis system detects most thalassemia genetic…”
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Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia by Li, Huijun, Zhu, Xiangyu, Yang, Ying, Wang, Wanjun, Mao, Aiping, Li, Jiaqi, Bao, Shilai, Li, Jie

“…•The LRS method were demonstrated to be able to identify different types of CYP21A2 variation accurately and comprehensively, and determine the junction sites…”
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Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing by Li, Shuyuan, Han, Xu, Xu, Yan, Chang, Chunxin, Gao, Li, Li, Jiaqi, Lu, Yulin, Mao, Aiping, Wang, Yanlin

“…Population-wide carrier screening for spinal muscular atrophy (SMA) is recommended by the American College of Medical Genetics and Genomics. However, the…”
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Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome by Hou, Fei, Mao, Aiping, Shan, Shan, Li, Yan, Meng, Wanli, Zhan, Jiahan, Nie, Wenying, Jin, Hua

“…•Long-read sequencing-based methods were developed to analyze FMR1 genetic variations.•CAFXS successfully called all the FMR1 CGG expansion.•CAFXS identified…”
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An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis by Li, Shuyuan, Han, Xu, Zhang, Liang, Xu, Yan, Chang, Chunxin, Gao, Li, Zhan, Jiahan, Hua, Renyi, Mao, Aiping, Wang, Yanlin

“…Abstract Background Population-wide carrier screening for spinal muscular atrophy (SMA) is recommended by professional organizations to facilitate informed…”
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Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia by Liang, Qiaowei, He, Jun, Li, Qing, Zhou, Yulin, Liu, Yanqiu, Li, Youqiong, Tang, Lingfang, Huang, Shengwen, Li, Rong, Zeng, Fanqian, Mao, Aiping, Liu, Yinyin, Liang, Desheng, Wu, Lingqian

“…The aim is to evaluate the clinical utility of a long-read sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) in prenatal…”
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Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing by Feng, Jianjiang, Mao, Aiping, Lu, Ye, Shi, Haihong, Meng, Wanli, Liang, Chen

“…Inherited deletions of upstream regulatory elements of α-globin genes give rise to α-thalassemia, which is an autosomal recessive monogenic disease. However,…”
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