Search Results - "FU, QIHUA"

Corrigendum to “Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for PTCH1 gene” [Stem Cell Res. 56 (2021) 102517] by Zu, Bailing, Zhang, Xiaoqing, You, Guoling, Fu, Qihua

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Identification of miRNA–mRNA–TFs Regulatory Network and Crucial Pathways Involved in Tetralogy of Fallot by You, Guoling, Zu, Bailing, Wang, Bo, Fu, Qihua, Li, Fen

“…Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, its pathogenesis remains unknown. To explore key regulatory…”
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Molecular Characteristics of Community-Associated Staphylococcus aureus Isolates From Pediatric Patients With Bloodstream Infections Between 2012 and 2017 in Shanghai, China by Wang, Xing, Liu, Qian, Zhang, He, Li, Xia, Huang, Weichun, Fu, Qihua, Li, Min

“…is known as an invasive human pathogen, resulting in significant morbidity and mortality worldwide; however, information on community-associated (CA-SA) from…”
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SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients by Liang, Fei, Wang, Bo, Geng, Juan, You, Guoling, Fa, Jingjing, Zhang, Min, Sun, Hunying, Chen, Huiwen, Fu, Qihua, Zhang, Xiaoqing, Zhang, Zhen

“…Chromosome 4q deletion is one of the most frequently detected genomic imbalance events in congenital heart disease (CHD) patients. However, a portion of…”
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Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for PTCH1 gene by Zu, Bailing, Zhang, Xiaoqing, You, Guoling, Fu, Qihua

“…PTCH1 is the receptor protein of Hedgehog signaling pathway, and Hedgehog pathway plays a vital role in mammalian embryonic development. However, the specific…”
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Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia by Lv, Mingming, You, Guoling, Wang, Jinbing, Fu, Qihua, Gupta, Anand, Li, Jun, Sun, Jian

“…Familial florid osseous dysplasia (FFOD) is an autosomal dominant disorder of connective tissue, characterized by lobulated cementum-like masses scattered…”
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Hemodynamic Effects of A Simplified Venturi Conduit for Fontan Circulation: A Pilot, In Silico Analysis by Zhu, Fang, Shi, Guocheng, Wen, Chen, Zhang, Qian, Fu, Qihua, Liu, Jinlong, Zhu, Zhongqun, Chen, Huiwen

“…Objectives: To study the effects of a self-powered Fontan circulation in both idealized Fontan models and patient-specific models. Methods: In silico, a…”
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Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation by Jiang, Xuechao, Li, Tingting, Liu, Sijie, Fu, Qihua, Li, Fen, Chen, Sun, Sun, Kun, Xu, Rang, Xu, Yuejuan

“…TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome…”
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Molecular Characteristic and Virulence Gene Profiles of Community-Associated Methicillin-Resistant Staphylococcus aureus Isolates from Pediatric Patients in Shanghai, China by Wang, Xing, Li, Xia, Liu, Wei, Huang, Weichun, Fu, Qihua, Li, Min

“…is a globally important human pathogen, especially among children and immunocompromised patients. The emergence and spread of community-associated…”
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MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation by Zhang, Erge, Yang, Jianping, Liu, Yang, Hong, Nanchao, Xie, Huilin, Fu, Qihua, Li, Fen, Chen, Sun, Yu, Yu, Sun, Kun

“…Conotruncal heart defects (CTDs) are closely related to defective outflow tract (OFT) development, in which cardiac neural crest cells (CNCCs) play an…”
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The clinical application and laboratory management of molecular genetic diagnosis in children's hospital by Bao, Wenjie, Fu, Qihua, Zhang, Xiaoqing, Mo, Xi, Yu, Tingting

“…Background Molecular diagnostic technology is the foundation of precision medicine, which has the advantages of good specificity, high sensitivity, strong…”
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Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4 by Li, Baolei, Li, Zhuoyan, Yang, Jianping, Hong, Nanchao, Jin, Lihui, Xu, Yuejuan, Fu, Qihua, Sun, Kun, Yu, Yu, Lu, Yanan, Chen, Sun

“…Atrioventricular septal defects (AVSD) are a complicated subtype of congenital heart defects for which the genetic basis is poorly understood. Many studies…”
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A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease by Zhang, Xiaoqing, Wang, Jian, Wang, Bo, Chen, Sun, Fu, Qihua, Sun, Kun

“…Congenital heart disease (CHD) is the most prevalent type of birth defect in human, with high morbidity in infant. Several genes essential for heart…”
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Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle by Zhang, Xingyu, Wang, Bo, You, Guoling, Xiang, Ying, Fu, Qihua, Yu, Yongguo, Zhang, Xiaoqing

“…Congenital heart disease (CHD) is one of the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that…”
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Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting by Zhang, Xiaoqing, Wang, Bo, Zhang, Lichen, You, Guoling, Palais, Robert A, Zhou, Luming, Fu, Qihua

“…Copy number variation (CNV) has been implicated in the genetics of multiple human diseases. Spinal muscular atrophy (SMA) and 22q11.2 deletion syndrome…”
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A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway by Xiang, Ying, Li, Xiaoliang, Zhan, Zhiyan, Feng, Jue, Cai, Haiqing, Li, Yanxin, Fu, Qihua, Xu, Yunlan, Jiang, Hong, Zhang, Xiaoqing

“…Polydactyly and syndactyly are congenital limb malformations that may occur either as non-syndromic or syndromic forms. In the present study, massively…”
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FGD5-AS1 Is a Hub lncRNA ceRNA in Hearts With Tetralogy of Fallot Which Regulates Congenital Heart Disease Genes Transcriptionally and Epigenetically by Zhang, Xingyu, Gao, Yunqian, Zhang, Xiaoping, Zhang, Xiaoqing, Xiang, Ying, Fu, Qihua, Wang, Bo, Xu, Zhuoming

“…Heart development requires robust gene regulation, and the related disruption could lead to congenital heart disease (CHD). To gain insights into the…”
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Multifunctional superparamagnetic nanoshells: combining two-photon luminescence imaging, surface-enhanced Raman scattering and magnetic separation by Jin, Xiulong, Li, Haiyan, Wang, Shanshan, Kong, Ni, Xu, Hong, Fu, Qihua, Gu, Hongchen, Ye, Jian

“…With the increasing need for multi-purpose analysis in the biomedical field, traditional single diagnosis methods cannot meet the requirements. Therefore new…”
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Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing by Xie, Huilin, Zhang, Erge, Hong, Nanchao, Fu, Qihua, Li, Fen, Chen, Sun, Yu, Yu, Sun, Kun

“…Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants…”
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Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly by Xiang, Ying, Wang, Zhigang, Bian, Jingxia, Xu, Yunlan, Fu, Qihua

“…Polydactyly is a clinically and genetically heterogeneous disorder. In the current report, we present a five-generation Chinese family with non-syndromic…”
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