Jing Yu Liu

发表

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.

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.

Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal–Regulated Kinase1/2 Cascade and TRPV6

P. Yi, X. Zhang, Luoying Zhang, 2020 .

A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification

Min Zhang, Jing Yu Liu, Hao Sun, 2017, Movement disorders : official journal of the Movement Disorder Society.

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.

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.

Murine Placental‐Fetal Phosphate Dyshomeostasis Caused by an Xpr1 Deficiency Accelerates Placental Calcification and Restricts Fetal Growth in Late Gestation

Zhengang Yang, Jing Yu Liu, Zhijian Cao, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.

Guangyou Duan, Jing Yu Liu, Shanna Guo, 2016, Pediatric neurology.

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.

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 SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype

Guangyou Duan, Jing Yao, Jing Yu Liu, 2020, Molecular pain.

SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients

Guangyou Duan, Jing Yu Liu, Jiaoli Sun, 2017, Medicine.

Gain-of-function mutations in SCN11A cause familial episodic pain.

X. Zhang, Lianghong Zheng, Luna Gao, 2013, American journal of human genetics.

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.

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

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

Norbisabolane-type sesquiterpenoid derivatives, benzofuran lignans and a phenolic glycoside from the roots of Glochidion wilsonii Hutch.

Jing Yu Liu, Zhijian Cao, Xiaomei Zeng, 2022, Phytochemistry.

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 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.

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.

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.

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.

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.

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.

Spider venom-derived peptide induces hyperalgesia in Nav1.7 knockout mice by activating Nav1.9 channels

S. Liang, Jing Yu Liu, Zhonghua Liu, 2020, Nature Communications.

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.

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.

PRMT7 modulates neuronal excitability by interacting with NaV1.9.

Luoying Zhang, Jing Yu Liu, Zhijian Cao, 2021, Pain.

FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome

P. Yi, Jiuxiang Wang, Lejin Wang, 2020, Investigative ophthalmology & visual science.

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.

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 .

Protein arginine methyltransferase 7 modulates neuronal excitability by interacting with NaV1.9

Luoying Zhang, Jing Yu Liu, Zhijian Cao, 2021, Pain.

Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.

Jing Yu Liu, Xiaoliu Shi, Xianwei Zhang, 2020, Pain.

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl

Jing Yu Liu, Zhijian Cao, Hao Sun, 2021, Molecular genetics & genomic medicine.

Bmc Medical Genetics 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, 2022 .

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

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

A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B

B. Tang, Luoying Zhang, Hong Jiang, 2018, Epilepsia.