Works by Fan, Liang‐Liang

Results: 56

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1545

By:

Fan, Liang‐Liang;
Liu, Lv;
Luo, Fang‐Mei;
Du, Ran;
Wang, Chen‐Yu;
Dong, Yi;
Liu, Ji‐Shi

Publication type:

Article

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

Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β‐spectrin in a Chinese family with hereditary spherocytosis.

Published in:

Journal of Gene Medicine, 2019, v. 21, n. 2/3, p. 1, doi. 10.1002/jgm.3073

By:

Fan, Liang‐Liang;
Liu, Ji‐Shi;
Huang, Hao;
Du, Ran;
Xiang, Rong

Publication type:

Article

Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.

Published in:

Cardiology, 2016, v. 136, n. 1, p. 10, doi. 10.1159/000447422

By:

Liu, Ji-Shi;
Fan, Liang-Liang;
Zhang, Hao;
Liu, Xiaoxian;
Huang, Hao;
Tao, Li-Jian;
Xia, Kun;
Xiang, Rong

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 Low‐Cost Microfluidic Device For the On‐Line Counting of Microparticle/Bacteria.

Published in:

Electrophoresis, 2024, v. 45, n. 23/24, p. 2182, doi. 10.1002/elps.202400061

By:

Xun, Zhen‐Yu;
Liu, Lv;
Zhang, Bai‐Chuan;
Fan, Liang‐Liang;
Zhang, Lu‐Wei;
Zhao, Hong;
Iqbal, Sohail;
Shakoor, Rana Iqtidar;
Zhao, Liang

Publication type:

Article

Gravity‐based focusing and size‐dependent separation of metal microparticles in lubricating oil.

Published in:

Electrophoresis, 2023, v. 44, n. 23, p. 1889, doi. 10.1002/elps.202300086

By:

Gan, Chong‐Shan;
Fan, Liang‐Liang;
Zhao, Liang

Publication type:

Article

Elastic‐inertial separation of microparticle in a gradually contracted microchannel.

Published in:

Electrophoresis, 2022, v. 43, n. 21, p. 2217, doi. 10.1002/elps.202200083

By:

Tian, Zhuang‐Zhuang;
Gan, Chong‐Shan;
Fan, Liang‐Liang;
Wang, Ji‐Chang;
Zhao, Liang

Publication type:

Article

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.

Published in:

Pharmacogenomics & Personalized Medicine, 2025, v. 18, p. 47, doi. 10.2147/PGPM.S501623

By:

Chen, Liang;
Zhao, Mei-Fang;
Deng, Hui-Wen;
Liao, Min;
Fan, Liang-Liang;
Zhong, Qi-Bao;
Wang, Jun;
Li, Ke;
Wu, Zheng-Hui;
Yin, Jian-Yin

Publication type:

Article

A novel mutation of Myotilin is associated with muscular dystrophy and postoperative respiratory failure.

Published in:

QJM: An International Journal of Medicine, 2023, v. 116, n. 10, p. 859, doi. 10.1093/qjmed/hcad136

By:

Li, Ning;
Lin, Zhao-Jing;
Fan, Liang-Liang;
Xu, Jun-Mei;
Yu, 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

Integrated Analysis of WES and scRNA‐Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss.

Published in:

Journal of Clinical Laboratory Analysis, 2025, v. 39, n. 6, p. 1, doi. 10.1002/jcla.70011

By:

Lin, Zhao‐Jing;
Zhu, Lei;
Dong, Yi;
Yun, Jiao;
Zhi, Ya‐Nan;
Zhang, Wei;
Sun, Yan‐Mei;
Jiang, Yu‐Jie;
Liu, Shu;
Fan, Liang‐Liang;
Li, Ya‐Li;
Guo, Shuai

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

Functional properties and structure changes of soybean protein isolate after subcritical water treatment.

Published in:

Journal of Food Science & Technology, 2015, v. 52, n. 6, p. 3412, doi. 10.1007/s13197-014-1392-9

By:

Zhang, Qiu-Ting;
Tu, Zong-Cai;
Wang, Hui;
Huang, Xiao-Qin;
Fan, Liang-Liang;
Bao, Zhong-Yu;
Xiao, Hui

Publication type:

Article

Numerical Simulation on Chain Dynamic of Polymer Solution in Microchannels: A Dissipative Particle Dynamics Study.

Published in:

Macromolecular Theory & Simulations, 2025, v. 34, n. 2, p. 1, doi. 10.1002/mats.202400078

By:

Dong, Hua;
Zhou, Hao;
Li, Yi‐Fei;
Li, Xiao‐Bao;
Fan, Liang‐Liang;
Wen, Bo‐Yao;
Zhao, Liang

Publication type:

Article

Efficient microfluidic enrichment of nano‐/submicroparticle in viscoelastic fluid.

Published in:

Electrophoresis, 2021, v. 42, n. 21, p. 2273, doi. 10.1002/elps.202000330

By:

Fan, Liang‐Liang;
Tian, Zhuang‐Zhuang;
Zhe, Jiang;
Zhao, Liang

Publication type:

Article

Enhanced viscoelastic focusing of particle in microchannel.

Published in:

Electrophoresis, 2020, v. 41, n. 10/11, p. 973, doi. 10.1002/elps.201900397

By:

Fan, Liang‐Liang;
Zhao, Zhi;
Tao, Yi‐Yi;
Wu, Xu;
Yan, Qing;
Zhe, Jiang;
Zhao, Liang

Publication type:

Article

A passive microfluidic device for continuous microparticle enrichment.

Published in:

Electrophoresis, 2019, v. 40, n. 6, p. 1000, doi. 10.1002/elps.201800454

By:

Fan, Liang‐Liang;
Zhu, Xiao‐Liang;
Yan, Qing;
Zhe, Jiang;
Zhao, Liang

Publication type:

Article

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

ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease.

Published in:

Molecular Medicine, 2024, v. 30, n. 1, p. 1, doi. 10.1186/s10020-024-00913-9

By:

Wang, Chen-Yu;
Chang, Si-Hua;
Hu, Cheng-Feng;
Hu, Yi-Qiao;
Luo, Hong;
Liu, Lv;
Fan, Liang-Liang

Publication type:

Article

Single-cell transcriptomic profiling reveals decreased ER protein Reticulon3 drives the progression of renal fibrosis.

Published in:

Molecular Biomedicine, 2024, v. 5, n. 1, p. 1, doi. 10.1186/s43556-024-00187-x

By:

Guo, Shuai;
Dong, Yi;
Du, Ran;
Liu, Yu-Xing;
Liu, Shu;
Wang, Qin;
Liu, Ji-Shi;
Xu, Hui;
Jiang, Yu-Jie;
Hao, Huang;
Fan, Liang-Liang;
Xiang, Rong

Publication type:

Article

A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.

Published in:

Hereditas, 2023, v. 160, n. 1, p. 1, doi. 10.1186/s41065-023-00299-4

By:

Liu, Lv;
Luo, Hua;
Sheng, Yue;
Kang, Xi;
Peng, Hong;
Luo, Hong;
Fan, Liang-Liang

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

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly–Polymicrogyria–Polydactyly–Hydrocephalus Syndrome.

Published in:

2024

By:

Zhao, Mei-Fang;
Zhang, Song-Lin;
Xiang, YangZiYu;
Wang, Qian;
Cao, Gao-Hui;
Zhang, Ping-Ping;
Fan, Liang-Liang;
Yu, Rong;
Li, Ya-Li

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 Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome.

Published in:

BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4535349

By:

Wang, Zhao-Xia;
Liu, Yi-Hui;
Dong, Yi;
Li, Ya-Li;
Tang, Tie-Yu;
Fan, Liang-Liang

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

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Published in:

BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4381272

By:

Yu, Rong;
Liu, Lv;
Li, Ya-Li;
Fan, Liang-Liang

Publication type:

Article

Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia.

Published in:

BMC Cardiovascular Disorders, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12872-024-04204-3

By:

Wang, Qian;
Deng, Yong;
Fan, Liang-Liang;
Dong, Yi;
Zhang, Ai-Qian;
Liu, Yu-Xing

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

Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Published in:

2021

By:

Luo, Fang-Mei;
Deng, Ming-Xing;
Yu, Rong;
Liu, Lv;
Fan, Liang-Liang

Publication type:

Correction Notice

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Published in:

Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.604715

By:

Luo, Fang-Mei;
Deng, Ming-Xing;
Yu, Rong;
Liu, Lv;
Fan, Liang-Liang

Publication type:

Article

A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09880-0

By:

Jin, Yu-Han;
Xiang, Yang-Ziyu;
Zhao, Mei-Fang;
Liu, Yi-Hui;
Fan, Liang-Liang;
Li, Xiao-Cong

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

A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00184

By:

Tang, Yi;
Zhang, Liyang;
Xie, Wenlin;
Jin, Jieyuan;
Luo, Yujiao;
Deng, Mingyang;
Liu, Zhengyu;
Pan, Hong Wei;
Zhang, Yi;
Zheng, Zhaofen;
Fan, Liang-Liang

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 mutation of NOG in family with proximal symphalangism and early genetic counseling.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0917-5

By:

Ma, Cong;
Liu, Lv;
Wang, Fang-Na;
Tian, Hai-Shen;
Luo, Yan;
Yu, Rong;
Fan, Liang-Liang;
Li, Ya-Li

Publication type:

Article

Novel Mutations of Low-Density Lipoprotein Receptor Gene in China Patients with Familial Hypercholesterolemia.

Published in:

Applied Biochemistry & Biotechnology, 2015, v. 176, n. 1, p. 101, doi. 10.1007/s12010-015-1554-x

By:

Fan, Liang-liang;
Lin, Min-jie;
Chen, Ya-qin;
Huang, Hao;
Peng, Dao-quan;
Xia, Kun;
Zhao, Shui-ping;
Xiang, Rong

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

Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.

Published in:

BioMed Research International, 2020, p. 1, doi. 10.1155/2020/9159315

By:

Wu, Bo-Da;
Wang, Yong-Jun;
Fan, Liang-Liang;
Huang, Hui;
Zhou, Peng;
Yang, Mei;
Shi, Xiao-Liu

Publication type:

Article

Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.761003

By:

Fan, Liang-Liang;
Sheng, Yue;
Wang, Chen-Yu;
Li, Ya-Li;
Liu, Ji-Shi

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