Mugen Liu

发表

The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family.

Yinfu Feng, Qinbo Yang, Changzheng Huang, 2008, Journal of genetics and genomics = Yi chuan xue bao.

The transcription factor CREB acts as an important regulator mediating oxidative stress-induced apoptosis by suppressing αB-crystallin expression

Q. Nguyen, Mugen Liu, Yizhi Liu, 2020, Aging.

HSF4 regulates lens fiber cell differentiation by activating p53 and its downstream regulators

Mugen Liu, Ling Wang, Meng Gao, 2017, Cell Death and Disease.

BCAS2 interacts with HSF4 and negatively regulates its protein stability via ubiquitination.

Fei Liu, Tao Jiang, Mugen Liu, 2015, The international journal of biochemistry & cell biology.

HSF4 regulates DLAD expression and promotes lens de-nucleation.

Mugen Liu, D. W. Li, T. Ke, 2013, Biochimica et biophysica acta.

Novel HSF4 mutation causes congenital total white cataract in a Chinese family.

Mugen Liu, T. Ke, Xu Wang, 2006, American journal of ophthalmology.

HSF4 is involved in DNA damage repair through regulation of Rad51.

Mugen Liu, D. W. Li, Stephen Archacki, 2012, Biochimica et biophysica acta.

Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population

Dan Wang, Xin Tu, Lisong Shi, 2009, Human Genetics.

pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation.

Mugen Liu, Meng Gao, Stephen Archacki, 2015, Cellular signalling.

A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family

Mugen Liu, Stephen Archacki, Zhao-hui Tang, 2011, Neuroscience Letters.

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.

Qinbo Yang, Mugen Liu, T. Ke, 2006, Investigative ophthalmology & visual science.

Effects of Nt-truncation and coexpression of isolated Nt domains on the membrane trafficking of electroneutral Na+/HCO3– cotransporters

Y. Liu, Jichun Yang, Mugen Liu, 2015, Scientific Reports.

The Zpr-3 antibody recognizes the 320-354 region of Rho and labels both rods and green cones in zebrafish

Fei Liu, Mugen Liu, Yuwen Huang, 2022, bioRxiv.

CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis.

Fei Liu, Y. Liu, Guohua Yang, 2014, Biochimica et biophysica acta.

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations

G. Vincent, Li Zhang, Mugen Liu, 2008, BMC Medical Genetics.

Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

Huanming Yang, Jianguo Zhang, Qing Wang, 2013, The Journal of investigative dermatology.

CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1

Fei Liu, Tao Jiang, X. Shu, 2018, Autophagy.

CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish

X. Shu, Mugen Liu, Y. Liu, 2017, Human molecular genetics.

T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.

Mugen Liu, Q. Wang, Lejin Wang, 2008, Mitochondrion.

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.

Mugen Liu, X. Tu, Xu Wang, 2008, Biochemical and biophysical research communications.

Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

Mugen Liu, Shiguo Liu, Binbin Wang, 2010, International journal of cardiology.

Two novel HAND1 mutations in Chinese patients with ventricular septal defect.

Mugen Liu, Binbin Wang, Xu Ma, 2012, Clinica chimica acta; international journal of clinical chemistry.

Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.

Qing Wang, Mugen Liu, Zhao-hui Tang, 2006, Yi chuan xue bao = Acta genetica Sinica.

Depletion of suppressor of cytokine signaling-1a causes hepatic steatosis and insulin resistance in zebrafish.

Mugen Liu, Zhan Yin, Jiangyan He, 2015, American journal of physiology. Endocrinology and metabolism.

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.

Mugen Liu, Q. Wang, Ming-xiong Yuan, 2011, Journal of genetics and genomics = Yi chuan xue bao.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Mugen Liu, M. Sobrido, Haibo Xu, 2012, Nature Genetics.

Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcification

Mugen Liu, Haibo Xu, Q. Wang, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish.

Tao Jiang, X. Shu, Mugen Liu, 2019, Biochimica et biophysica acta. Molecular basis of disease.

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics

B. Tang, Mugen Liu, Luoying Zhang, 2021, Movement disorders : official journal of the Movement Disorder Society.

Knockout of DNase1l1l abrogates lens denucleation process and causes cataract in zebrafish.

Mugen Liu, Yuwen Huang, Xiukun Cui, 2020, Biochimica et biophysica acta. Molecular basis of disease.

HSF4 promotes G1/S arrest in human lens epithelial cells by stabilizing p53.

Fei Liu, Mugen Liu, Meng Gao, 2015, Biochimica et biophysica acta.

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family

Mugen Liu, Xu Wang, Zhao-hui Tang, 2006, Journal of Human Genetics.

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

Ping Liu, Mugen Liu, T. Ke, 2005, Journal of Molecular Medicine.

Identification of a new lamin A/C mutation in a chinese family affected with atrioventricular block as the prominent phenotype

Mugen Liu, R. Du, Q. Wang, 2010, Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban.

Functional Analysis of TBX5 Missense Mutations Associated with Holt-Oram Syndrome*

Mugen Liu, C. Fan, Qing Wang, 2003, The Journal of Biological Chemistry.

Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking.

Mugen Liu, Yuwen Huang, Shanshan Yu, 2019, Biochimica et biophysica acta. Molecular basis of disease.

[NF1 mutation analysis in a Chinese family with neuro- fibromatosis type].

Qing Wang, Mugen Liu, Yun Deng, 2008, Yi chuan = Hereditas.

A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate.

Teng Liu, Mugen Liu, P. Yi, 2019, Genetic testing and molecular biomarkers.

A novel mutation in the ATP2C1 gene is associated with Hailey–Hailey disease in a Chinese family

T. Yang, Mugen Liu, Q. Wang, 2009, International journal of dermatology.

Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells.

Mugen Liu, T. Ke, Chang Li, 2008, Biochimica et biophysica acta.

Mutation c.359_363delGTATTinsATAC in the COL4A5 causes Alport syndrome in a Chinese family.

Qing Wang, Mugen Liu, Zhao-hui Tang, 2013, Gene.

Cataract mutation P20S of (cid:11) B-crystallin impairs chaperone activity of (cid:11) A-crystallin and induces apoptosis of human lens epithelial cells

Mugen Liu, T. Ke, Chang Li, 2018 .

A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family

Mugen Liu, Chengqi Xu, Q. Wang, 2007, BMC Medical Genetics.

Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

Changzheng Huang, Qing Wang, Mugen Liu, 2012, Gene.

Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3–p31.1

Shouyan Zhang, Changzheng Huang, Mugen Liu, 2008, Human Genetics.

Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.

Changzheng Huang, Mugen Liu, Stephen Archacki, 2016, Clinica chimica acta; international journal of clinical chemistry.

Sumoylation differentially regulates Sp1 to control cell differentiation

S. Xiang, Q. Nguyen, Mugen Liu, 2014, Proceedings of the National Academy of Sciences.

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation

Mugen Liu, Q. Wang, X. Ren, 2007, Journal of Human Genetics.

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome

Fei Liu, Mugen Liu, Yuwen Huang, 2020, Molecular vision.

Comprehensive characterization of alternative splicing in renal cell carcinoma

Mugen Liu, Ke Chen, Heng Li, 2021, Briefings Bioinform..

Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2.

T. Yang, Mugen Liu, Xu Wang, 2008, The Journal of investigative dermatology.

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus

Shangbang Gao, Mugen Liu, Luoying Zhang, 2020, Frontiers in Cell and Developmental Biology.

A PCR-Based Method for RNA Probes and Applications in Neuroscience

Mugen Liu, Shanshan Yu, Haohong Li, 2018, Front. Neurosci..

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

J. Casanova, L. Notarangelo, Y. Crow, 2014, Nature.

Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene.

Mugen Liu, Zhao-hui Tang, Xiukun Cui, 2011, Clinica chimica acta; international journal of clinical chemistry.

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.

Mugen Liu, Q. Wang, Ming-xiong Yuan, 2011, Molecular genetics and metabolism.

Heat shock factor 4 regulates lysosome activity by modulating the αB-crystallin-ATP6V1A-mTOR complex in ocular lens.

Mugen Liu, Xiukun Cui, Jing Zhang, 2019, Biochimica et biophysica acta. General subjects.

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1

Y. Liu, Mugen Liu, Zhao-hui Tang, 2013, Molecular vision.

PiT2 regulates neuronal outgrowth through interaction with microtubule-associated protein 1B

B. Tang, Mugen Liu, P. Yi, 2017, Scientific Reports.

Cloning and Functional Characterization of Novel Variants and Tissue-Specific Expression of Alternative Amino and Carboxyl Termini of Products of Slc4a10

Y. Liu, Mugen Liu, Q. Wang, 2013, PloS one.

Impaired fertility in 4930590J08Rik mutant male mice is associated with defective sperm energy metabolism

Mugen Liu, Bo Xiong, Huan Zhang, 2022, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population

Qing Yang, Mugen Liu, Fan Wang, 2011, Nature Genetics.

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish

Fei Liu, X. Shu, Mugen Liu, 2017, Scientific Reports.

Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing

Fei Liu, X. Shu, Mugen Liu, 2021, Nucleic acids research.

A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia

Qinbo Yang, Changzheng Huang, Mugen Liu, 2006, Journal of Human Genetics.

Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration

Fei Liu, X. Shu, Mugen Liu, 2019, The Journal of Biological Chemistry.

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism

Mugen Liu, P. Ouyang, Haibo Xu, 2009, Molecular and Cellular Endocrinology.

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family

Mugen Liu, Q. Wang, X. Ren, 2008, BMC Medical Genetics.

Repression of MHC class I transcription by HPV16E7 through interaction with a putative RXRbeta motif and NF-kappaB cytoplasmic sequestration.

Mugen Liu, Chang Li, Q. Wang, 2009, Biochemical and biophysical research communications.

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family

Qing Wang, Mugen Liu, Zhao-hui Tang, 2010, Molecular vision.

BCAS2 is essential for hematopoietic stem and progenitor cell maintenance during zebrafish embryogenesis.

Tao Jiang, Mugen Liu, Daji Luo, 2019, Blood.

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

Fei Liu, Tao Jiang, D. Soares, 2017, Scientific Reports.

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa

Guohua Yang, Mugen Liu, Zhao-hui Tang, 2010, BMC Medical Genetics.

Genetic analysis of a family with 46,XY "female" associated with infertility.

Qing Wang, Mugen Liu, Xu Wang, 2006, Yi chuan xue bao = Acta genetica Sinica.

Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population.

Mugen Liu, Fan Wang, X. Tu, 2010, Clinica chimica acta; international journal of clinical chemistry.

Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population

Mugen Liu, Fan Wang, X. Tu, 2011, Human Genetics.

The chromatin remodeler Brg1 is required for formation and maintenance of hematopoietic stem cells

X. Shu, Mugen Liu, H. Jia, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family

Mugen Liu, Q. Wang, Lejin Wang, 2008, Molecular vision.

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy

B. Tang, Mugen Liu, Ji-feng Guo, 2023, Science China Life Sciences.

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome

P. Szafranski, D. Housman, Shaoqi Rao, 2004, Nature.

Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis

Changzheng Huang, Mugen Liu, Meng Gao, 2016, Scientific Reports.

Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis

Mugen Liu, Bo Xiong, Jing-Yu Liu, 2022, Neuroscience Bulletin.

Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration

Fei Liu, X. Shu, Mugen Liu, 2022, PLoS genetics.

Rod-genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor compositions and progressive retinal degeneration

X. Shu, Mugen Liu, Daji Luo, 2021, bioRxiv.

Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.

X. Shu, Mugen Liu, S. Liao, 2015, Human molecular genetics.

A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2–q26.33

Mugen Liu, Xu Wang, Q. Wang, 2008, Human Genetics.

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa

Fei Liu, Y. Liu, Mugen Liu, 2016, Molecular vision.

Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects.

Qing Wang, Mugen Liu, Zhao-hui Tang, 2006, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Knockout of RP 2 decreases GRK 1 and rod transducin subunits and leads to photoreceptor degeneration in zebra fi sh

X. Shu, Mugen Liu, S. Liao, 2015 .

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families

Qinbo Yang, Qing Wang, Mugen Liu, 2006, American journal of medical genetics. Part A.

Retinal degeneration in rpgra mutant zebrafish

Fei Liu, Mugen Liu, Yuwen Huang, 2023, Frontiers in Cell and Developmental Biology.

Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy

Fei Liu, Tao Jiang, Mugen Liu, 2018, Human Genetics.

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish

Tao Jiang, X. Shu, D. Soares, 2017, The Journal of Biological Chemistry.

Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family.

Mugen Liu, T. Ke, Zhao-hui Tang, 2009, Archives of ophthalmology.

Knockout of DLIC1 leads to retinal cone degeneration via disturbing Rab8 transport in zebrafish.

Mugen Liu, Xiukun Cui, Jing Zhang, 2023, Biochimica et biophysica acta. Molecular basis of disease.

Knockout of mafba Causes Inner-Ear Developmental Defects in Zebrafish via the Impairment of Proliferation and Differentiation of Ionocyte Progenitor Cells

Mugen Liu, Yuwen Huang, Zhao-hui Tang, 2021, Biomedicines.

[Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome].

Mugen Liu, Mingchang Zhang, Fei Liu, 2015, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.

Qing Wang, Mugen Liu, Ping Liu, 2008, Journal of genetics and genomics = Yi chuan xue bao.

Accumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPARα Pathway

Fei Liu, Xiang Ren, Mugen Liu, 2022, Investigative ophthalmology & visual science.

Erratum: Human intracellular ISG15 prevents interferon-α±/β 2 over-amplification and auto-inflammation (Nature 517 (2015) (89-93) 10.1038/nature13801))

J. Casanova, L. Notarangelo, Y. Crow, 2015 .

Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish

Fei Liu, X. Shu, Xiang Ren, 2022, Cell Death & Disease.

Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.

Qing Wang, Mugen Liu, X. Ren, 2007, Chinese medical journal.

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish

Fei Liu, X. Shu, Mugen Liu, 2017, Scientific Reports.