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Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification.

Bin Tang, Bin Li, Liang-Di Gao, Na He, Xiao-Rong Liu, Yue-Sheng Long, Yang Zeng, Yong-Hong Yi, Tao Su, Wei-Ping Liao,

Genes are unique in functional role and differ in their sensitivities to genetic defects, but with difficulties in pathogenicity prediction. This study attempted to improve the performance of existing in silico algorithms and find a common solution based on individualization strategy. We initiated the individualization with the epilepsy-related SCN1A variants ... Read more >>

Brief. Bioinformatics (Briefings in bioinformatics)
[2020, 21(5):1776-1786]

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DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect.

Liu Liu, Zi-Rong Chen, Hai-Qing Xu, De-Tian Liu, Yong Mao, Han-Kui Liu, Xiao-Rong Liu, Peng Zhou, Si-Mei Lin, Bin Li, Na He, Tao Su, Qiong-Xiang Zhai, Heng Meng, Wei-Ping Liao, Yong-Hong Yi,

To explore the phenotype spectrum of DEPDC5 variants and the possible mechanisms underlying phenotypical variation, we performed targeted next-generation sequencing in 305 patients with focal epilepsies and 91 patients with generalized epilepsies. Protein modeling was performed to predict the effects of missense mutations. All previously reported epilepsy-related DEPDC5 variants were ... Read more >>

Front Neurosci (Frontiers in neuroscience)
[2020, 14:821]

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The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Xiao-Jun Huang, Shi-Ge Wang, Xia-Nan Guo, Wo-Tu Tian, Fei-Xia Zhan, Ze-Yu Zhu, Xiao-Meng Yin, Qing Liu, Kai-Li Yin, Xiao-Rong Liu, Yu Zhang, Zhen-Guo Liu, Xiao-Li Liu, Lan Zheng, Tian Wang, Li Wu, Tian-Yi Rong, Yan Wang, Mei Zhang, Guang-Hui Bi, Wei-Guo Tang, Chao Zhang, Ping Zhong, Chun-Yu Wang, Jian-Guang Tang, Wei Lu, Ru-Xu Zhang, Guo-Hua Zhao, Xun-Hua Li, Hua Li, Tao Chen, Hai-Yan Li, Xiao-Guang Luo, Yan-Yan Song, Hui-Dong Tang, Xing-Hua Luan, Hai-Yan Zhou, Bei-Sha Tang, Sheng-Di Chen, Li Cao,

BACKGROUND:Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline-rich transmembrane protein 2 have been identified as the major pathogenic factor. OBJECTIVES:We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(8):1428-1437]

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The Effect of Auricular Acupressure on Sleep Disturbance Among Patients With Leukemia: A Feasibility Study.

Xiao-Rong Liu, Nicole Rana, Ng-Shin Wong, Chabu James, Jue Lu, Xiao Xu,

Auricular acupressure (AA) is widely used in East Asia and Europe to manage patients with sleep disturbance. This feasibility study was performed to demonstrate the potential of AA for sleep disturbance in patients with leukemia. Thirty-two patients with leukemia with poor sleep quality received AA 3 times a day for ... Read more >>

Holist Nurs Pract (Holistic nursing practice)
[2020, 34(2):103-112]

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Mir20a/106a-WTX axis regulates RhoGDIa/CDC42 signaling and colon cancer progression.

Gui-Fang Zhu, Yang-Wei Xu, Jian Li, Hui-Lin Niu, Wen-Xia Ma, Jia Xu, Pei-Rong Zhou, Xia Liu, Dan-Li Ye, Xiao-Rong Liu, Tao Yan, Wei-Ke Zhai, Zhi-Jun Xu, Chun Liu, Lei Wang, Hao Wang, Jia-Mao Luo, Li Liu, Xuan-Qi Li, Suiqun Guo, Hui-Ping Jiang, Peng Shen, Hui-Kuan Lin, Di-Hua Yu, Yan-Qing Ding, Qing-Ling Zhang,

Wilms tumor gene on the X chromosome (WTX) is a putative tumor suppressor gene in Wilms tumor, but its expression and functions in other tumors are unclear. Colorectal cancer (CRC) is the third leading cause of cancer-related deaths in women and the second leading cause in men in the United ... Read more >>

Nat Commun (Nature communications)
[2019, 10(1):112]

Cited: 5 times

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Immunological features and functional analysis of anti-CFH autoantibodies in patients with atypical hemolytic uremic syndrome.

Wei-Yi Guo, Di Song, Xiao-Rong Liu, Zhi Chen, Hui-Jie Xiao, Jie Ding, Shu-Zhen Sun, Hong-Yan Liu, Su-Xia Wang, Feng Yu, Ming-Hui Zhao, ,

OBJECTIVE:Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement regulation. Anti-complement factor H (CFH) antibodies were thought to participate in the pathogenesis of aHUS. The aim of this study was to address the functions and properties of CFH autoantibodies in a Chinese Han cohort of aHUS patients. METHODS:Thirty-six anti-CFH ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2019, 34(2):269-281]

Cited: 2 times

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Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.

Zi-Rong Chen, De-Tian Liu, Heng Meng, Liu Liu, Wen-Jun Bian, Xiao-Rong Liu, Wei-Wen Zhu, Yong He, Jie Wang, Bin Tang, Tao Su, Yong-Hong Yi,

PURPOSE:TPP1 mutations have been identified in patients with variable phenotypes such as late infantile neuronal ceroid lipofuscinosis (LINCL), juvenile neuronal ceroid lipofuscinosis (JNCL), and spinocerebellar ataxia 7. However, the mechanism underlying phenotype variation is unknown. We screened TPP1 mutations in patients with epilepsies and analyzed the genotype-phenotype correlation to explain ... Read more >>

Seizure (Seizure)
[2019, 69:180-185]

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Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

Na He, Zhi-Jian Lin, Jie Wang, Feng Wei, Heng Meng, Xiao-Rong Liu, Qian Chen, Tao Su, Yi-Wu Shi, Yong-Hong Yi, Wei-Ping Liao,

Epileptic encephalopathies comprise a group of catastrophic epilepsies with heterogeneous genetic etiology. Although next-generation sequencing techniques can reveal a number of de novo variants in epileptic encephalopathies, evaluating the pathogenicity of these variants can be challenging. Determining the pathogenic potential of genes in epileptic encephalopathies is critical before evaluating the ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(1):17-27]

Cited: 3 times

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Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome.

Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi, Wei-Ping Liao,

BACKGROUND:Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15-35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. ... Read more >>

J Neurodev Disord (Journal of neurodevelopmental disorders)
[2018, 10(1):10]

Cited: 3 times

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[An assessment of nutritional status in children on maintenance hemodialysis due to stage 5 chronic kidney disease].

Ye-Ping Jiang, Ying Shen, Xiao-Rong Liu,

OBJECTIVE:To investigate the nutritional status of children on maintenance hemodialysis due to stage 5 chronic kidney disease (CKD) and the clinical significance of nutritional assessment indices. METHODS:A total of 21 children on maintenance hemodialysis due to stage 5 CKD were grouped according to body mass index. The nutritional status was ... Read more >>

Zhongguo Dang Dai Er Ke Za Zhi (Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics)
[2018, 20(3):189-194]

Cited: 0 times

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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.

Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang, Xiao-Meng Yin, Mei Zhang, Wei-Guo Tang, Xiao-Rong Liu, Bei-Sha Tang, Sheng-Di Chen, Li Cao,

BACKGROUND:Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal dyskinesia. Approximately half of the cases of paroxysmal kinesigenic dyskinesia worldwide are attributable to proline-rich transmembrane protein 2 mutations. OBJECTIVE:The objective of this study was to investigate potential causative genes and clinical characteristics in proline-rich transmembrane protein 2-negative patients with ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2018, 33(3):459-467]

Cited: 4 times

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ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.

Jing-Yang Wang, Peng Zhou, Jie Wang, Bin Tang, Tao Su, Xiao-Rong Liu, Bing-Mei Li, Heng Meng, Yi-Wu Shi, Yong-Hong Yi, Na He, Wei-Ping Liao,

ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABAA receptor localization. ARHGEF9 mutations have been identified in patients with heterogeneous phenotypes, including epilepsy of variable severity and intellectual disability. However, the mechanism underlying phenotype variation is unknown. Using next-generation sequencing, we identified a novel ... Read more >>

Neurogenetics (Neurogenetics)
[2018, 19(1):9-16]

Cited: 5 times

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Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.

Xing-Xing Xu, Xiao-Rong Liu, Cui-Ying Fan, Jin-Xing Lai, Yi-Wu Shi, Wei Yang, Tao Su, Jun-Yu Xu, Jian-Hong Luo, Wei-Ping Liao,

N-methyl-D-aspartate receptors (NMDARs), a subtype of glutamate-gated ion channels, play a central role in epileptogenesis. Recent studies have identified an increasing number of GRIN2A (a gene encoding the NMDAR GluN2A subunit) mutations in patients with epilepsy. Phenotypes of GRIN2A mutations include epilepsy-aphasia disorders and other epileptic encephalopathies, which pose challenges ... Read more >>

Neurosci Bull (Neuroscience bulletin)
[2018, 34(2):237-246]

Cited: 2 times

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HLA-A*24:02 as a common risk factor for antiepileptic drug-induced cutaneous adverse reactions.

Yi-Wu Shi, Fu-Li Min, Dong Zhou, Bin Qin, Juan Wang, Fa-Yun Hu, Ying-Kit Cheung, Jin-Hua Zhou, Xiang-Shu Hu, Jue-Qian Zhou, Lie-Min Zhou, Zhong-Zheng Zheng, Jie Pan, Na He, Zhi-Sheng Liu, Yun-Qi Hou, Kheng-Seang Lim, Yang-Mei Ou, Amy Hui-Ping Khor, Ching-Ching Ng, Bi-Jun Mao, Xiao-Rong Liu, Bing-Mei Li, Yao-Yun Kuan, Yong-Hong Yi, Xue-Lian He, Xiao-Yan Deng, Tao Su, Patrick Kwan, Wei-Ping Liao,

To investigate the involvement of human leukocyte antigen (HLA) loci in aromatic antiepileptic drug-induced cutaneous adverse reactions.A case-control study was performed to detect HLA loci involved in aromatic antiepileptic drug-induced Stevens-Johnson syndrome in a southern Han Chinese population. Between January 1, 2006, and December 31, 2015, 91 cases of Stevens-Johnson ... Read more >>

Neurology (Neurology)
[2017, 88(23):2183-2191]

Cited: 18 times

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CS2164, a novel multi-target inhibitor against tumor angiogenesis, mitosis and chronic inflammation with anti-tumor potency.

You Zhou, Song Shan, Zhi-Bin Li, Li-Jun Xin, De-Si Pan, Qian-Jiao Yang, Ying-Ping Liu, Xu-Peng Yue, Xiao-Rong Liu, Ji-Zhou Gao, Jin-Wen Zhang, Zhi-Qiang Ning, Xian-Ping Lu,

Although inhibitors targeting tumor angiogenic pathway have provided improvement for clinical treatment in patients with various solid tumors, the still very limited anti-cancer efficacy and acquired drug resistance demand new agents that may offer better clinical benefits. In the effort to find a small molecule potentially targeting several key pathways ... Read more >>

Cancer Sci. (Cancer science)
[2017, 108(3):469-477]

Cited: 7 times

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[Acute renal failure caused by rhabdomyolysis in children: a clinical analysis of 26 cases].

Fan-Ying Meng, Xiao-Rong Liu, Qian Fu,

OBJECTIVE:To investigate the clinical features and prognosis of acute renal failure (ARF) caused by rhabdomyolysis (RM) in children. METHODS:A retrospective analysis was performed for the clinical data, laboratory examination, and prognosis of 26 RM children with ARF. RESULTS:The causes for all 26 RM children with ARF were non-traumatic diseases, and ... Read more >>

Zhongguo Dang Dai Er Ke Za Zhi (Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics)
[2017, 19(2):193-197]

Cited: 0 times

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The clinical and laboratory features of Chinese Han anti-factor H autoantibody-associated hemolytic uremic syndrome.

Di Song, Xiao-Rong Liu, Zhi Chen, Hui-Jie Xiao, Jie Ding, Shu-Zhen Sun, Hong-Yan Liu, Wei-Yi Guo, Su-Xia Wang, Feng Yu, Ming-Hui Zhao, ,

Anti-complement factor H (CFH) autoantibody-associated hemolytic uremic syndrome (HUS) is a severe sub-type of HUS.We assessed the clinical and renal pathological features, circulating complement levels, and genetic background of Chinese pediatric patients with this sub-type of HUS. Thirty-three consecutive patients with acute kidney injury who tested positive for serum anti-CFH ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2017, 32(5):811-822]

Cited: 2 times

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The effects of paeoniflorin injection on soluble triggering receptor expressed on myeloid-1 (sTREM-1) levels in severe septic rats.

Xiao-Rong Liu, Jie Xu, Yi-Min Wang, Ming-Suo Ji, Fu-Shan Liu,

Paeoniflorin (PAE) is the most abundant compound in Xuebijing injection widely used to treat sepsis. We aimed to investigate effect of PAE on expression of soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) in a rat model of sepsis. Wistar rats were divided into Normal, Model, and PAE groups (n=20 ... Read more >>

Korean J. Physiol. Pharmacol. (The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology)
[2016, 20(6):565-571]

Cited: 2 times

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Cell-Extrinsic MHC Class I Molecule Engagement Augments Human NK Cell Education Programmed by Cell-Intrinsic MHC Class I.

Jeanette E Boudreau, Xiao-Rong Liu, Zeguo Zhao, Aaron Zhang, Leonard D Shultz, Dale L Greiner, Bo Dupont, Katharine C Hsu,

The effector potential of NK cells is counterbalanced by their sensitivity to inhibition by "self" MHC class I molecules in a process called "education." In humans, interactions between inhibitory killer immunoglobulin-like receptors (KIR) and human MHC (HLA) mediate NK cell education. In HLA-B(∗)27:05(+) transgenic mice and in patients undergoing HLA-mismatched hematopoietic cell transplantation (HCT), ... Read more >>

Immunity (Immunity)
[2016, 45(2):280-291]

Cited: 21 times

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Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.

Xiao-Rong Liu, Dan Huang, Jie Wang, Yi-Fan Wang, Hui Sun, Bin Tang, Wen Li, Jin-Xing Lai, Na He, Mei Wu, Tao Su, Heng Meng, Yi-Wu Shi, Bing-Mei Li, Bei-Sha Tang, Wei-Ping Liao,

To explore the potential causative genes of paroxysmal hypnogenic dyskinesia (PHD), which was initially considered a subtype of paroxysmal dyskinesia and has been recently considered a form of nocturnal frontal lobe epilepsy (NFLE).Eleven patients with PHD were recruited. Mutations in proline-rich region transmembrane protein-2 (PRRT2), myofibrillogenesis regulator 1 (MR-1), solute ... Read more >>

Neurol Genet (Neurology. Genetics)
[2016, 2(2):e66]

Cited: 9 times

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Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.

Qi-Liang Li, Wen-Qi Song, Xiao-Xia Peng, Xiao-Rong Liu, Le-Jian He, Li-Bing Fu,

The present study was undertaken to investigate the clinical characteristics of hemolytic uremic syndrome (HUS) secondary to cobalamin C disorder (cbl-C disorder).We reviewed retrospectively the medical records of 3 children with HUS secondary to cbl-C disorder who had been treated between April 1, 2009 and October 31, 2013.The 3 patients ... Read more >>

World J Pediatr (World journal of pediatrics : WJP)
[2015, 11(3):276-280]

Cited: 4 times

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Coexistence of Anti-Glomerular Basement Membrane Antibodies and Anti-Neutrophil Cytoplasmic Antibodies in a Child With Human Leukocyte Antigen Susceptibility and Detailed Antibody Description: A Case Report.

Li-jun Xie, Zhao Cui, Xiao-yu Jia, Zhi Chen, Xiao-rong Liu, Ming-hui Zhao,

Anti-glomerular basement membrane (anti-GBM) disease and anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis both could cause rapidly progressive glomerulonephritis. The coexistence of ANCAs and anti-GBM antibodies was known as "double positive," which was extremely rare in children. We report a pediatric case with coexistence of ANCAs and anti-GBM antibodies. A 6-year-old girl ... Read more >>

Medicine (Baltimore) (Medicine)
[2015, 94(29):e1179]

Cited: 1 time

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The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.

Heng Meng, Hai-Qing Xu, Lu Yu, Guo-Wang Lin, Na He, Tao Su, Yi-Wu Shi, Bin Li, Jie Wang, Xiao-Rong Liu, Bin Tang, Yue-Sheng Long, Yong-Hong Yi, Wei-Ping Liao,

Mutations in the SCN1A gene have been identified in epilepsy patients with widely variable phenotypes and modes of inheritance and in asymptomatic carriers. This raises challenges in evaluating the pathogenicity of SCN1A mutations. We systematically reviewed all SCN1A mutations and established a database containing information on functional alterations. In total, ... Read more >>

Hum. Mutat. (Human mutation)
[2015, 36(6):573-580]

Cited: 51 times

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Development and application of triage and medical evacuation system for casualties at sea.

Tai Xie, Xiao-Rong Liu, Guo-Liang Chen, Liang Qi, Zhi-Yin Xu, Xu-Dong Liu,

Traditional triage could not meet the needs of battlefield casualties' care in modern warfare. This paper designs of triage and medical evacuation system for casualties at sea that can quickly address mass-casualty triage, and store and transmit medical information during battlefield treatment and medical evacuation. This system consists of a ... Read more >>

Mil Med Res (Military Medical Research)
[2014, 1:12]

Cited: 2 times

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Efficacy and potential microRNA mechanism for computed tomography-guided percutaneous radiofrequency ablation of primary lung cancer and lung metastasis from liver cancer.

Xun Hu, Fan Zhang, Xiao-Rong Liu, Yun-Tao Wu, Yi-Ming Ni,

BACKGROUND:The aim of this study was to evaluate comparatively the effectiveness of computed tomography-guided percutaneous radiofrequency ablation (CT-PRFA) for primary non-small cell lung cancer (NSCLC) and lung metastases from hepatocellular carcinoma (HCC) and to explore the potential miRNA mechanisms for the efficacy of CT-PRFA. METHODS:14 patients pathologically diagnosed with NSCLC ... Read more >>

Cell. Physiol. Biochem. (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology)
[2014, 33(5):1261-1271]

Cited: 3 times

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