Works by Jin, Jie‐Yuan

Results: 33

A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 2, p. 95, doi. 10.1111/ahg.12287

By:

Zhang, Shu‐Bing;
Liu, Yu‐Xing;
Fan, Liang‐Liang;
Huang, Hao;
Li, Jing‐Jing;
Jin, Jie‐Yuan;
Xiang, Rong

Publication type:

Article

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split‐hand/foot malformation with hypodontia.

Published in:

Journal of Gene Medicine, 2019, v. 21, n. 10, p. N.PAG, doi. 10.1002/jgm.3122

By:

Jin, Jie‐Yuan;
Zeng, Lei;
Li, Ke;
He, Ji‐Qiang;
Pang, Xiaoyang;
Huang, Hao;
Xiang, Rong;
Tang, Ju‐Yu

Publication type:

Article

Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI deficiency.

Published in:

Frontiers in Cardiovascular Medicine, 2024, p. 1, doi. 10.3389/fcvm.2024.1461899

By:

Liang, Chen;
Jin, Jie-Yuan;
Shi, Hai-Hong;
Li, Hao-Xian;
Chen, Lin-Lin;
Zhang, Yang-Hui;
Wang, Qin;
Li, Qiu-Li;
Li, Rui-Man

Publication type:

Article

Whole‐exome sequencing identifies a novel mutation of <italic>GPD1L</italic> (R189X) associated with familial conduction disease and sudden death.

Published in:

Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 2, p. 1350, doi. 10.1111/jcmm.13409

By:

Huang, Hao;
Chen, Ya‐Qin;
Fan, Liang‐Liang;
Guo, Shuai;
Li, Jing‐Jing;
Jin, Jie‐Yuan;
Xiang, Rong

Publication type:

Article

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09235-9

By:

Liu, Meng-Wei;
Hu, Cheng-Feng;
Jin, Jie-Yuan;
Xiang, Rong;
Fan, Liang-liang;
Li, Ya-Li;
Zhu, Lei

Publication type:

Article

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09235-9

By:

Liu, Meng-Wei;
Hu, Cheng-Feng;
Jin, Jie-Yuan;
Xiang, Rong;
Fan, Liang-liang;
Li, Ya-Li;
Zhu, Lei

Publication type:

Article

Genetic analysis combined with 3D‐printing assistant surgery in diagnosis and treatment for an X‐linked hypophosphatemia patient.

Published in:

Journal of Clinical Laboratory Analysis, 2022, v. 36, n. 3, p. 1, doi. 10.1002/jcla.24243

By:

Jin, Jie‐Yuan;
Zhang, Li‐Yang;
Guo, Shuai;
Tang, Ke;
Zeng, Lei;
Xiang, Rong;
Liang, Jie‐Yu

Publication type:

Article

A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity.

Published in:

2018

By:

Guo, Shuai;
Fan, Xue-Feng;
Jin, Jie-Yuan;
Fan, Liang-Liang;
Zeng, Lei;
Zhou, Zheng-Bing;
Xiang, Rong;
Tang, Ju-Yu

Publication type:

Case Study

RTN3 regulates collagen biosynthesis and profibrotic macrophage differentiation to promote pulmonary fibrosis via interacting with CRTH2.

Published in:

Molecular Medicine, 2025, v. 31, n. 1, p. 1, doi. 10.1186/s10020-025-01119-3

By:

Wang, Chen-Yu;
Chen, Ya-Qin;
Huang, Hao;
Yuan, Zhuang-Zhuang;
Dong, Yi;
Jin, Jie-Yuan;
Long, Jie-Yi;
Liu, Lv;
Fan, Liang-Liang;
Xiang, Rong

Publication type:

Article

A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient.

Published in:

Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 4, p. 532, doi. 10.1515/cclm-2018-0578

By:

Fan, Liang-Liang;
Ding, Dong-Bo;
Huang, Hao;
Chen, Ya-Qin;
Jin, Jie-Yuan;
Xia, Kun;
Xiang, Rong

Publication type:

Article

Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.

Published in:

2023

By:

Lu, Yi-Lei;
Wang, Qin;
Wang, Min;
Chang, Si-Hua;
He, Ji-Qiang;
Xiang, Rong;
Tang, Ju-Yu;
Jin, Jie-Yuan

Publication type:

Case Study

Loss of RTN3 phenocopies chronic kidney disease and results in activation of the IGF2-JAK2 pathway in proximal tubular epithelial cells.

Published in:

Experimental & Molecular Medicine EMM, 2022, v. 54, n. 5, p. 653, doi. 10.1038/s12276-022-00763-7

By:

Fan, Liang-Liang;
Du, Ran;
Liu, Ji-Shi;
Jin, Jie-Yuan;
Wang, Chen-Yu;
Dong, Yi;
He, Wan-Xia;
Yan, Ri-Qiang;
Xiang, Rong

Publication type:

Article

A Novel ZRS Mutation in a Chinese Patient with Preaxial Polydactyly and Triphalangeal Thumb.

Published in:

Cytogenetic & Genome Research, 2016, v. 149, n. 3, p. 171, doi. 10.1159/000448820

By:

Wu, Pan-Feng;
Guo, Shuai;
Fan, Xue-Feng;
Fan, Liang-Liang;
Jin, Jie-Yuan;
Tang, Ju-Yu;
Xiang, Rong

Publication type:

Article

Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block.

Published in:

BioMed Research International, 2021, p. 1, doi. 10.1155/2021/9247541

By:

Dong, Yi;
Du, Ran;
Fan, Liang-liang;
Jin, Jie-yuan;
Huang, Hao;
Chen, Ya-qin;
Bi, Dan-dong;
Xiang, Rong

Publication type:

Article

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Published in:

BioMed Research International, 2021, p. 1, doi. 10.1155/2021/6678531

By:

Guo, Bing-Bing;
Jin, Jie-Yuan;
Yuan, Zhuang-Zhuang;
Zeng, Lei;
Xiang, Rong

Publication type:

Article

Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome.

Published in:

Frontiers in Aging Neuroscience, 2021, v. 13, p. 1, doi. 10.3389/fnagi.2021.671296

By:

Liu, Yi-Hui;
Zhang, Hai-Feng;
Jin, Jie-Yuan;
Wei, Yan-Qiu;
Wang, Chen-Yu;
Fan, Liang-Liang;
Liu, Lv

Publication type:

Article

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 96, doi. 10.1159/000512856

By:

Wang, Chen-Yu;
Yu, Fang;
Jin, Jie-Yuan;
He, Ji-Qiang;
Fan, Liang-Liang;
Tang, Ju-Yu;
Xiang, Rong

Publication type:

Article

Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus.

Published in:

Molecular Syndromology, 2020, v. 11, n. 3, p. 130, doi. 10.1159/000507035

By:

Liu, Ji-Shi;
Huang, Hao;
Jin, Jie-Yuan;
Du, Ran;
Wang, Chen-Yu;
Fan, Liang-Liang

Publication type:

Article

A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 773, doi. 10.1111/cge.14048

By:

Yuan, Zhuang‐Zhuang;
Wang, Chen‐Yu;
Jin, Jie‐Yuan;
Sheng, Yue;
Zhao, Mei‐Fang;
Fan, Liang‐Liang;
Zhang, Ai‐Qian

Publication type:

Article

Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01858-3

By:

Lu, Yi-Lei;
Liu, Meng-wei;
Jin, Jie-Yuan;
Pan, Ding

Publication type:

Article

Whole-exome sequencing identified a novel mutation of BMPR2 in a Chinese family with pulmonary arterial hypertension.

Published in:

All Life, 2021, v. 14, n. 1, p. 874, doi. 10.1080/26895293.2021.1978560

By:

Jiao, Zi-Jun;
Jin, Jie-Yuan;
Fan, Liang-Liang;
Yuan, Zhuang-Zhuang;
Dong, Yi;
Xiang, Rong;
Bi, Dan-Dong

Publication type:

Article

A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00755

By:

Wang, Chen-Yu;
Chen, Ya-Qin;
Jin, Jie-Yuan;
Du, Ran;
Fan, Liang-Liang;
Xiang, Rong

Publication type:

Article

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00492

By:

Jin, Jie-Yuan;
Wu, Pan-Feng;
He, Ji-Qiang;
Fan, Liang-Liang;
Yuan, Zhuang-Zhuang;
Pang, Xiao-Yang;
Tang, Ju-Yu;
Zhang, Li-Yang

Publication type:

Article

Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy.

Published in:

2018

By:

Fan, Liang-Liang;
Chen, Ya-Qin;
Huang, Hao;
Jin, Jie-Yuan;
Li, Jing-Jing;
Tan, Zhi-Ping

Publication type:

journal article

Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia.

Published in:

Cardiology in the Young, 2018, v. 28, n. 5, p. 688, doi. 10.1017/S1047951117002980

By:

Huang, Hao;
Ding, Dong-Bo;
Fan, Liang-Liang;
Jin, Jie-Yuan;
Li, Jing-Jing;
Guo, Shuai;
Xiang, Rong;
Chen, Ya-qin

Publication type:

Article

Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.

Published in:

BioMed Research International, 2020, p. 1, doi. 10.1155/2020/8790531

By:

Tang, Jian-Xia;
Xiao, Xiang-Shui;
Wang, Kai;
Jin, Jie-Yuan;
Fan, Liang-Liang;
Xiang, Rong

Publication type:

Article

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.

Published in:

BioMed Research International, 2020, p. 1, doi. 10.1155/2020/2149342

By:

Jin, Jie-Yuan;
Liu, Dan-Yu;
Jiao, Zi-Jun;
Dong, Yi;
Li, Jie;
Xiang, Rong

Publication type:

Article

Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.743184

By:

Jin, Jie-Yuan;
Guo, Bing-Bing;
Dong, Yi;
Sheng, Yue;
Fan, Liang-Liang;
Zhang, Li-Bing

Publication type:

Article

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.705973

By:

Jin, Jie-Yuan;
Zeng, Lei;
Guo, Bing-Bing;
Dong, Yi;
Tang, Ju-Yu;
Xiang, Rong

Publication type:

Article

Reticulon 3 regulates sphingosine‐1‐phosphate synthesis in endothelial cells to control blood pressure.

Published in:

MedComm, 2024, v. 5, n. 2, p. 1, doi. 10.1002/mco2.480

By:

Jin, Jie‐Yuan;
Chang, Si‐Hua;
Chen, Ya‐Qin;
Liu, Meng‐Wei;
Dong, Yi;
Liu, Ji‐Shi;
Wang, Qin;
Huang, Hao;
Fan, Liang‐Liang;
Xiang, Rong

Publication type:

Article

Correction to: Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK‐IDH2 pathway.

Published in:

MedComm, 2024, v. 5, n. 2, p. 1, doi. 10.1002/mco2.466

By:

Huang, Hao;
Guo, Shuai;
Chen, Ya‐Qin;
Liu, Yu‐Xing;
Jin, Jie‐Yuan;
Liang, Yun;
Fan, Liang‐Liang;
Xiang, Rong

Publication type:

Article

Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK–IDH2 pathway.

Published in:

MedComm, 2023, v. 4, n. 2, p. 1, doi. 10.1002/mco2.226

By:

Huang, Hao;
Guo, Shuai;
Chen, Ya‐Qin;
Liu, Yu‐Xing;
Jin, Jie‐Yuan;
Liang, Yun;
Fan, Liang‐Liang;
Xiang, Rong

Publication type:

Article

Rare SRRM2 mutation in neurodevelopmental disorders involving hyperphagia triggering severe obesity and other complication.

Published in:

Frontiers in Medicine, 2025, p. 1, doi. 10.3389/fmed.2025.1492851

By:

Chang, Si-Hua;
Wang, Xia;
Jin, Jie-Yuan;
Wang, Qin;
Wu, Li-Ping

Publication type:

Article