Search Results - "Wu, Lingqian"

Comprehensive evaluation and analysis of low-carbon energy-saving renovation projects of high-end hotels under the background of double carbon by Wu, Lingqian

“…Under the background of “double carbon”, the low-carbon and energy-saving renovation of existing public buildings has become an effective way to reduce…”
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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes by Liang, Desheng, Cram, David S., Tan, Hu, Linpeng, Siyuan, Liu, Yingdi, Sun, Huaiyu, Zhang, Yu, Tian, Feng, Zhu, Hongmin, Xu, Mengnan, Wang, Hua, Yu, Fuli, Wu, Lingqian

“…To assess the clinical performance of an expanded noninvasive prenatal screening (NIPS) test (“NIPS-Plus”) for detection of both aneuploidy and genome-wide…”
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Identification of MicroRNAs in Human Follicular Fluid: Characterization of MicroRNAs That Govern Steroidogenesis in Vitro and Are Associated With Polycystic Ovary Syndrome in Vivo by Sang, Qing, Yao, Zhongyuan, Wang, Huan, Feng, Ruizhi, Wang, Haojue, Zhao, Xinzhi, Xing, Qinghe, Jin, Li, He, Lin, Wu, Lingqian, Wang, Lei

“…Context: Human follicular fluid is a combination of proteins, metabolites, and ionic compounds that is indicative of the general state of follicular metabolism…”
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Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4 by Lei, Ming, Liang, Desheng, Yang, Yifeng, Mitsuhashi, Satomi, Katoh, Kazutaka, Miyake, Noriko, Frith, Martin C, Wu, Lingqian, Matsumoto, Naomichi

“…Chromothripsis is a type of chaotic complex genomic rearrangement caused by a single event of chromosomal shattering and repair processes. Chromothripsis is…”
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Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN Expression by Zhou, Miaojin, Tang, Shuqing, Duan, Nannan, Xie, Mi, Li, Zhuo, Feng, Mai, Wu, Lingqian, Hu, Zhiqing, Liang, Desheng

“…Spinal muscular atrophy (SMA) is a devastating autosomal recessive motor neuron disease associated with mutations in the survival motor neuron 1 (SMN1) gene,…”
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Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes by Xiao, Rou, Zhou, Miaojin, Wang, Peiyun, Zeng, Baitao, Wu, Lingqian, Hu, Zhiqing, Liang, Desheng

“…Duchenne muscular dystrophy (DMD) is the most common fatal muscle disease, with an estimated incidence of 1/3500–1/5000 male births, and it is associated with…”
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Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing by Liang, Desheng, Lv, Weigang, Wang, Hua, Xu, Liangpu, Liu, Jing, Li, Haoxian, Hu, Liang, Peng, Ying, Wu, Lingqian

“…ABSTRACT Objective To determine whether non‐invasive prenatal testing by maternal plasma DNA sequencing can uncover all fetal chromosome aneuploidies in one…”
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Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem Cells by Zhou, Miaojin, Hu, Zhiqing, Qiu, Liyan, Zhou, Tao, Feng, Mai, Hu, Qian, Zeng, Baitao, Li, Zhuo, Sun, Qianru, Wu, Yong, Liu, Xionghao, Wu, Lingqian, Liang, Desheng

“…Spinal muscular atrophy (SMA) is a kind of neuromuscular disease characterized by progressive motor neuron loss in the spinal cord. It is caused by mutations…”
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Mesenchymal Stem Cells Derived from Human Urine-Derived iPSCs Exhibit Low Immunogenicity and Reduced Immunomodulatory Profile by Wang, Peiyun, Zhang, Ying, Li, Zhixing, Zhou, Shenglan, Tang, Qiyu, Wang, Zujia, Xiao, Rou, Feng, Mai, Wu, Lingqian, Liang, Desheng

“…Human-induced pluripotent stem cell (iPSC)-derived mesenchymal stem cells (iMSCs) represent a promising and renewable cell source for therapeutic applications…”
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O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells by Teng, Hua, Chen, Siyi, Liu, Fang, Teng, Yanling, Li, Yunlong, Liang, Desheng, Wu, Lingqian, Li, Zhuo

“…The gene encodes O-sialoglycoprotein endopeptidase, a catalytic unit of the highly conserved KEOPS complex (Kinase, Endopeptidase, and Other Proteins of small…”
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Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children by Tang, Hui, Guo, Jing, Linpeng, Siyuan, Wu, Lingqian

“…Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with…”
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Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome by Lei, Ming, Mitsuhashi, Satomi, Miyake, Noriko, Ohta, Tohru, Liang, Desheng, Wu, Lingqian, Matsumoto, Naomichi

“…Prader-Willi syndrome (PWS) is a well-known imprinting disorder arising from a loss of paternally imprinted gene(s) at 15q11.2-q13. We report a typical PWS…”
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Identification of the Efficient Enhancer Elements in FVIII-Padua for Gene Therapy Study of Hemophilia A by Xiao, Rou, Chen, Yan, Hu, Zhiqing, Tang, Qiyu, Wang, Peiyun, Zhou, Miaojin, Wu, Lingqian, Liang, Desheng

“…Hemophilia A (HA) is a common X-linked recessive hereditary bleeding disorder. Coagulation factor VIII (FVIII) is insufficient in patients with HA due to the…”
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Ectopic Expression of FVIII in HPCs and MSCs Derived from hiPSCs with Site-Specific Integration of ITGA2B Promoter-Driven BDDF8 Gene in Hemophilia A by Zhao, Junya, Zhou, Miaojin, Wang, Zujia, Wu, Lingqian, Hu, Zhiqing, Liang, Desheng

“…Hemophilia A (HA) is caused by mutations in the coagulation factor VIII (FVIII) gene . Gene therapy is a hopeful cure for HA; however, FVIII inhibitors…”
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Gene Therapy for Hemophilia and Duchenne Muscular Dystrophy in China by Liu, Xionghao, Liu, Mujun, Wu, Lingqian, Liang, Desheng

“…Gene therapy is a new technology that provides potential for curing monogenic diseases caused by mutations in a single gene. Hemophilia and Duchenne muscular…”
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Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART) by Lv, Weigang, Wei, Xianda, Guo, Ruolan, Liu, Qin, Zheng, Yu, Chang, Jiazhen, Bai, Ting, Li, Haoxian, Zhang, Jianguang, Song, Zhuo, Cram, David S, Liang, Desheng, Wu, Lingqian

“…Noninvasive prenatal testing (NIPT) for monogenic diseases by use of PCR-based strategies requires precise quantification of mutant fetal alleles circulating…”
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Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study by Yuan, Xiying, Wang, Weinan, Dai, Lei, Yong, Wenjing, Pei, Chenlin, Li, Jingzhi, Wu, Lingqian

“…Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal…”
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Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism by Li, Menglin, Li, Zhuo, Chen, Miaomiao, Hu, Zhiqing, Zhou, Miaojin, Wu, Lingqian, Zhang, Chunhua, Liang, Desheng

“…Primary congenital hypothyroidism (CH) is a common neonatal endocrine disorder characterized by elevated concentrations of thyroid stimulating hormone (TSH)…”
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Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE by Zhang, Li, Hu, Haoran, Liang, Desheng, Li, Zhuo, Wu, Lingqian

“…X-Linked recessive chondrodysplasia punctata (CDPX1) is a rare skeletal dysplasia characterized by stippled epiphyses, brachytelephalangy, and nasomaxillary…”
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Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals by Huang, Qinlin, Wen, Juan, Zhang, Hongyun, Teng, Yanling, Zhang, Wen, Zhu, Huimin, Liang, Desheng, Wu, Lingqian, Li, Zhuo

“…This study aimed to screen southern and southwestern Chinese individuals using expanded carrier screening (ECS), which explores the carrier status of…”
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