Multi-omics study unravels gut microbiota and metabolites alteration in patients with Wilson's disease

Authors: Xiangsheng Cai, Jincheng Dai, Yingjun Xie, Shu Xu, Minqi Liu

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Subject Terms: Hepatolenticular degeneration, Wilson's disease, Gut microbiota, 16s rRNA sequencing, Metagenomics, Metabolomics, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/f2201495b7de446ba653d29af30fc2f2

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study

Authors: Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang, Yingjun Xie

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

Subject Terms: Dent disease, CLCN5 gene pathogenic variant, Foetus, Prenatal diagnosis, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/24b2b46efe41447c85ae44857f855aa3

Application of MFI-5 in severe complications and unfavorable outcomes after radical resection of colorectal cancer

Authors: Lihong Huang, Zhifa Li, Mengru Jian, Xiaobing Wu, Huixian Chen, Haifeng Qin, Ziqiao Li, Shixi Song, Yingjun Xie, Rong Chen

Source: World Journal of Surgical Oncology, Vol 21, Iss 1, Pp 1-8 (2023)

Subject Terms: Radical resection of colorectal carcinoma, mFI-5, Postoperative Complications, Frailty, Risk stratification, Surgery, RD1-811, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1477-7819

Access URL: https://doaj.org/article/6471dfe9e27a4a5096794d784a601e9a

In situ correction of various β-thalassemia mutations in human hematopoietic stem cells

Authors: Yinghong Yang, Lina He, Yingjun Xie, Lifen Zhu, Jianfeng Wu, Yong Fan, Yi Yang, Xiaofang Sun

Source: Frontiers in Cell and Developmental Biology, Vol 11 (2024)

Subject Terms: β-thalassemia, CRISPR/Cas9, hematopoietic stem cells, recombinant adeno-associated viral 6, gene therapy, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1276890/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/d0183e9009904278b419d0094cf88acc

A retrospective analysis of MS/MS screening for IEM in high-risk areas

Authors: Xiao He, Juan Kuang, Jiahong Lai, Jingxiong Huang, Yijin Wang, Guofeng Lan, Yingjun Xie, Xuekai Shi

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)

Subject Terms: Inborn errors of metabolism, Newborn screening, Tandem mass spectrometry, Genetic testing, Sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/32278373f17444778be7153fcdb380b0

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

Authors: Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)

Subject Terms: 1q44 microdeletion, Chromosomal microarray analysis, Whole exome sequencing, Developmental delay, Seizures, Intellectual disability, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/c16396bd143142d8ae04ff444db53b63

RS12574989 and haplotype associated with α/β-chain imbalance and population HbA2 reduction

Authors: Qiyin Lin, Yingjun Xie, Xuan Zhong, Xiaofang Sun, Ding Wang

Source: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)

Subject Terms: α/β-chain imbalance, Thalassemia, Haemoglobin distribution, Single nucleotide polymorphisms, Haplotypes, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/adcc78d4c57c4410884456ed56edf068

Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview

Authors: Jianlong Zhuang, Chunnuan Chen, Hegan Zhang, Wanyu Fu, Yanqing Li, Yuying Jiang, Shuhong Zeng, Xiaoxia Wu, Yingjun Xie, Gaoxiong Wang

Source: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)

Subject Terms: Partial trisomy 13q, Karyotype analysis, SNP array, Seizures, Developmental delay, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/b51de13cba9143fbadb97307ac1406d4

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population

Authors: Jianlong Zhuang, Chunnuan Chen, Rongfu Huang, Qi Luo, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie

Source: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)

Subject Terms: Recurrent spontaneous abortion, Molecular cytogenetics, Monosomy 10p, Trisomy 10q, Pericentric inversion, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/5871e59a0cc3452bbd8833694698c075

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Authors: Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen

Source: Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)

Subject Terms: CHILD syndrome, chromosomal microarray analysis, NSDHL gene, recurrent spontaneous abortion, whole‐exome sequencing, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/29840741a5934e578d055b4607a03bb7

The connection between innervation and metabolic rearrangements in pancreatic cancer through serine

Authors: Mengmeng Dong, Lidong Cao, Ranji Cui, Yingjun Xie

Source: Frontiers in Oncology, Vol 12 (2022)

Subject Terms: malignant tumors, pancreatic, innervation, metabolic rearrangements, cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.992927/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/0c4648d4e51b410a9a68a47fff33d470

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

Authors: Jianlong Zhuang, Na Zhang, Wanyu Fu, Jianfeng Yao, Yanqing Li, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Yuying Jiang

Source: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-10 (2021)

Subject Terms: Partial trisomy 4q, 6p deletion, Xp deletion, Karyotype analysis, SNP array, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/fcdd2cc4f8624f8c985a2c243356cd69

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Authors: Jianlong Zhuang, Junyu Wang, Qi Luo, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Xinying Chen, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: whole-exome sequencing, chromosomal microarray analysis, CHRNA1, lethal multiple pterygium syndrome, stillbirth, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.964098/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/e9cae234d29e40c8997e66522f2844e5

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Authors: Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Yingjun Xie, Gaoxiong Wang

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: chromosomal array analysis, KCNH2, tetralogy of fallot, LQTS, whole-exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.924573/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/0c330bb46e86480ca74b3cedbb67c18f

MSCs derived from amniotic fluid and umbilical cord require different administration schemes and exert different curative effects on different tissues in rats with CLP-induced sepsis

Authors: Rui Chen, Yingjun Xie, Xuan Zhong, Fei Chen, Yu Gong, Na Wang, Ding Wang

Source: Stem Cell Research & Therapy, Vol 12, Iss 1, Pp 1-12 (2021)

Subject Terms: Mesenchymal stem cells, Sepsis, Amniotic fluid, Umbilical cord, Curative effect, Medicine (General), R5-920, Biochemistry, QD415-436

File Description: electronic resource

Relation: https://doaj.org/toc/1757-6512

Access URL: https://doaj.org/article/297aa6fb132449348288d5630ea8821d

The safety and effectiveness of genetically corrected iPSCs derived from β-thalassaemia patients in nonmyeloablative β-thalassaemic mice

Authors: Yexing Xian, Yingjun Xie, Bing Song, Zhanhui Ou, Shuming Ouyang, Yuhuan Xie, Yi Yang, Zeyu Xiong, Haoxian Li, Xiaofang Sun

Source: Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-13 (2020)

Subject Terms: iPSCs, β-Thalassaemia, Transplantation, Medicine (General), R5-920, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13287-020-01765-w; https://doaj.org/toc/1757-6512

Access URL: https://doaj.org/article/930192f555b54a1d8aa1586c0b6c2a4f

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

Authors: Jianlong Zhuang, Chunnuan Chen, Yu'e Chen, Qi Luo, Yuanbai Wang, Yuying Jiang, Shuhong Zeng, Yingjun Xie, Dongmei Chen

Source: Frontiers in Pediatrics, Vol 10 (2022)

Subject Terms: osteogenesis imperfecta, type I collagen, COL1A1, whole-exome sequencing, chromosomal microarray analysis, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.816090/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/412729fb244441e781863fdc3e4b2004

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

Authors: Jianlong Zhuang, Chunnuan Chen, Yu’e Chen, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Xinying Chen, Yingjun Xie, Gaoxiong Wang

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: oculofaciocardiodental, chromosomal microarray analysis, whole-exome sequencing, BCOR, frameshift mutation, hemizygous variant, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.829613/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/4c7ac7ca45104a0e9d7cb16cf0907bb7

Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing

Authors: Jia Li, Jia Ju, Qiang Zhao, Weiqiang Liu, Yuying Yuan, Qiang Liu, Lijun Zhou, Yuan Han, Wen Yuan, Yonghua Huang, Yingjun Xie, Zhihua Li, Jingsi Chen, Shuyu Huang, Rufang Chen, Wei Li, Meihua Tan, Danchen Wang, Si Zhou, Jian Zhang, Fanwei Zeng, Nan Yu, Fengxia Su, Min Chen, Yunsheng Ge, Yanming Huang, Xin Jin

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: cell-free DNA, maternal malignancy, non-invasive prediction, random forest, classifier, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.802865/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/3f1dd22efc8b44e28cb1e493ece82cac

Complex Chromosomal Rearrangement Causes Male Azoospermia: A Case Report and Literature Review

Authors: Yi Liang, Yingjun Xie, Shu Kong, Qianying Pan, Wenjun Qiu, Ding Wang, Mengting Li, Sisi Lin, Zihang Liu, Xiaofang Sun

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: complex chromosomal rearrangement (CCR), azoospermia, karyotype, whole-genome sequencing, gametogenesis, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.792539/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/3224e00324e54829a179d37fa9835a7a