Fine-tuning of Wnt signaling by RNA surveillance factor Smg5 in the mouse craniofacial development

Authors: Shicheng Zhu, Suman Huo, Weiran He, Caiyan Huang, Jiannan Zhang, Xiaoning Jiang, Yeqing Qian, Chengyan Chen, Zhong-Min Dai, Xueqin Yang, Mengsheng Qiu, Tangliang Li, Xiao-Jing Zhu

Source: iScience, Vol 28, Iss 3, Pp 111972- (2025)

Subject Terms: Pathophysiology, Cell biology, Developmental biology, Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004225002329; https://doaj.org/toc/2589-0042

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Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

Authors: Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong

Source: BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-6 (2024)

Subject Terms: Fetal whole exome sequencing, Fetal anomalies, Recurrent phenotype, Frequent gene, Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2393

Access URL: https://doaj.org/article/479f70b9fd034c07a4ea56ad5cfdadba

Post-implantation analysis of genomic variations in the progeny from developing fetus to birth

Authors: Yingming Zheng, Chuanping Lin, Wen-Jing Wang, Liya Wang, Yeqing Qian, Luna Mao, Baohua Li, Lijun Lou, Yuchan Mao, Na Li, Jiayong Zheng, Nan Jiang, Chaying He, Qijing Wang, Qing Zhou, Fang Chen, Fan Jin

Source: Human Genomics, Vol 18, Iss 1, Pp 1-11 (2024)

Subject Terms: Whole-genome sequencing (WGS), SNV, De novo indels, Newborns, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/176bd970e7e9408298a768348a551c37

Squamous cell carcinoma of the cervix associated with choriocarcinomatous differentiation: a case report and review of the literature

Authors: Fenfen Wang, Shanshan Xu, Xiaofei Zhang, Yeqing Qian, Yaxia Chen

Source: Journal of International Medical Research, Vol 52 (2024)

Subject Terms: Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/1473-2300

Access URL: https://doaj.org/article/c1c778d6e4654b82a3cd76cddc9dedd2

Identification of four TTN variants in three families with fetal akinesia deformation sequence

Authors: Lihong Fan, Haibo Li, Ying Xu, Yingzhi Huang, Yeqing Qian, Pengzhen Jin, Xueping Shen, Zhi Li, Mingsong Liu, Yufei Liang, Guosong Shen, Minyue Dong

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

Subject Terms: TTN, Whole-exome sequencing, Fetal akinesia deformation sequence (FADS), RT-PCR, Meta transcript-only, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/a5fe0de952454c16b29b2fcdd9e03b55

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report

Authors: Liya Wang, Wenshan Zeng, Yeqing Qian, Yixi Sun, Min Chen, Bei Liu, Junjie Hu, Ping Yu, Minyue Dong

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)

Subject Terms: alternative splicing, factor VII deficiency, minigene, synonymous variants, whole exome sequencing, Genetics, QH426-470

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Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/6f4cba715eea42ca9af755ba0ed8026e

Validation and depth evaluation of recurrent neural network‐based ultra low‐pass genome sequencing for the detection of absence of heterozygosity: A multi‐centre study of 409 cases

Authors: Yeqing Qian, Jianjun Zhu, Zhiguo Tang, Yan Sun, Zhonghua Wang, Fei Tang, Yun Yang, Linlin Fan, Yixi Sun, Bei Liu, Min Chen, Yuqin Luo, Junjie Hu, Kai Yan, Jianfen Man, Lina Wang, Cangcang Jia, Ping Tang, Xinyi Zhu, Chaohong Wang, Junxiang Tang, Yuanyuan Xia, Xueqin Guo, Kang Zhang, Xiaoli Wang, Suping Li, Lijie Song, Jiansheng Zhu, Minyue Dong

Source: Clinical and Translational Medicine, Vol 14, Iss 7, Pp n/a-n/a (2024)

Subject Terms: Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2001-1326

Access URL: https://doaj.org/article/d3cc505edba54578a0be910ab2417134

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene

Authors: Yuqing Xu, Linyan Zhu, Yeqing Qian, Minyue Dong

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: LAMA2, LAMA2-related CMD, limb girdle muscular dystrophy 23, whole exome sequencing, LamG domain, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1191068/full; https://doaj.org/toc/2296-2360

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circRNA-DURSA regulates trophoblast apoptosis via miR-760-HIST1H2BE axis in unexplained recurrent spontaneous abortion

Authors: Minyue Tang, Long Bai, Zhe Wan, Shan Wan, Yu Xiang, Yeqing Qian, Long Cui, Jiali You, Xiaoling Hu, Fan Qu, Yimin Zhu

Source: Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 1433-1445 (2021)

Subject Terms: circRNA, trophoblast, apoptosis, unexplained recurrent spontaneous abortion, miRNA, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253121001530; https://doaj.org/toc/2162-2531

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Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency

Authors: Shan Chen, Yuqing Xu, Yeqing Qian, Zhaohui Li, Minyue Dong

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: RFX5, MHC-II deficiency, splicing mutation, DNA-binding domain, whole exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.978688/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/f2534278a2784db49f7c0cb41ba39880

Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene

Authors: Min Xu, Pengzhen Jin, Yingzhi Huang, Yeqing Qian, Miaochun Lin, Juan Zuo, Jin Zhu, Zhaohui Li, Minyue Dong

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: intracranial hemorrhage, whole-exome sequencing, JAM3, prenatal diagnosis, genetic counseling, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1036231/full; https://doaj.org/toc/1664-8021

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Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing

Authors: Jialing Yu, Na Chen, Min Chen, Min Shen, Yeqing Qian, Minyue Dong

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: tetrasomy 9p syndrome, NIPT, prenatal diagnosis, CMA, karyotyping, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1020525/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/162d4d57a1b0474cbd64adbc6db2e70c

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

Authors: Min Chen, Yixi Sun, Yeqing Qian, Na Chen, Hongge Li, Liya Wang, Minyue Dong

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: FOXP1 syndrome, global developmental delay, intellectual disability, splicing variant, WES, RNA analysis, Genetics, QH426-470

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Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.926070/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/e2a81a46359a497c925b150b7b7f849c

Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age

Authors: Hui Zhu, Xiaoxiao Jin, Yuqing Xu, Weihua Zhang, Xiaodan Liu, Jinglei Jin, Yeqing Qian, Minyue Dong

Source: BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-6 (2021)

Subject Terms: Advanced maternal age (AMA), Trisomy, Non-invasive prenatal screening (NIPS), Fetal chromosomal aneuploidies, Prenatal screening method, Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2393

Access URL: https://doaj.org/article/d7680dade469467b949a5d44cc1f0a12

Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)

Authors: Lihong Fan, Pengzhen Jin, Yeqing Qian, Guosong Shen, Xueping Shen, Minyue Dong

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: postaxial polydactyly, whole-exome sequencing, bi-allelic variants, smoothened, genetic counseling, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.887082/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/92f9613d660447a3a2f098aeef624c5e

Pro-Inflammatory Signature in Decidua of Recurrent Pregnancy Loss Regardless of Embryonic Chromosomal Abnormalities

Authors: Zaigui Wu, Miaomiao Wang, Guanmian Liang, Pengzhen Jin, Peng Wang, Yuqing Xu, Yeqing Qian, Xiuxiu Jiang, Junbin Qian, Minyue Dong

Source: Frontiers in Immunology, Vol 12 (2021)

Subject Terms: recurrent pregnancy loss, decidua, CyTOF, embryonic chromosomal aberrations, maternal immune tolerance, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.772729/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/3763965a507d41f98f74c95aa4ac39f1

Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping

Authors: Pengzhen Jin, Kai Yan, Shaofen Ye, Yeqing Qian, Zaigui Wu, Miaomiao Wang, Yuqing Xu, Yanfei Xu, Minyue Dong

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: synonymous mutation, exon skipping, alternative splicing, whole-exome sequencing, NF1, neurofibromatosis type I, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.772958/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/df144d869635461d874a6ab5a2f51ce0

Non-invasive prenatal screening for Emanuel syndrome

Authors: Yuqin Luo, Jie Lin, Yixi Sun, Yeqing Qian, Liya Wang, Min Chen, Minyue Dong, Fan Jin

Source: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)

Subject Terms: NIPS, Emanuel syndrome (ES), Supernumerary, Microduplication, Translocation, SNP Array, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13039-020-0476-7; https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/6811714337cd40b292dfab6b8f6437fc

Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis

Authors: Yuan Chen, Ying Jiang, Bangwu Chen, Yeqing Qian, Jiao Liu, Mengmeng Yang, Baihui Zhao, Qiong Luo

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: whole exome sequencing, nonimmune hydrops fetalis, PIEZO1 gene, sanger sequencing, case report, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.684555/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/f98bc5fac3ef4b918c76aaf1b09aa9b3

Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Authors: Pengzhen Jin, Xiaoyang Gao, Miaomiao Wang, Yeqing Qian, Jingjin Yang, Yanmei Yang, Yuqing Xu, Yanfei Xu, Minyue Dong

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: Duchenne muscular dystrophy, germline mosaicism, droplet digital polymerase chain reaction, gap-polymerase chain reaction, de novo mutations, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.686993/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/57545a5a3d9940ec895c1bf86d2e81c8