Xiaoyan Li

Sun Yat-sen University

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Haotian Lin

Sun Yat-sen University

Manuela Di Fusco

Pfizer (United States)

Liru Guo

Likun Lyu

Kyushu University

Xiaochun Dong

Tianjin Centers for Disease Control and Prevention

Yi Liu

Capital Medical University

Yongquan Wu

Capital Medical University

Xianying Pan

Bristol-Myers Squibb (United States)

Jack Mardekian

Pfizer (United States)

Wen Li

Second Affiliated Hospital of Zhejiang University

Cooperative Institutions

Sun Yat-sen University

Capital Medical University

Nanjing Medical University

Chinese Academy of Medical Sciences & Peking Union Medical College

Peking University

Sichuan University

Beijing Anzhen Hospital

Chinese Academy of Sciences

Johns Hopkins University

Bristol-Myers Squibb (United States)

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Research advances of coloring mechanism regulated by MicroRNAs in plants

Plant Physiology and Biochemistry (2024)

Xinpeng Zhang Lizhen Cheng Hong Shang Qiang Chen Mei Jun Lu

10.1016/j.plaphy.2024.109036

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Citations (2)

A heterozygous mutation in the ALPL gene in an adolescent with Chiari malformation type I accompanied by scoliosis, tethered cord and diastematomyelia

Acta Neurologica Belgica (2023)

Liqing Xu Chao Ma Shengli Shen Hongzhou Duan Xiaoyan Li

CM-1 Chiari malformation type I WESWhole-exome sequencing ALPL gene Alkaline phosphatase liver/bone/kidney gene Chiari malformation type I (CM-1), scoliosis, tethered cord and diastematomyelia are relatively rare spinal and intraspinal deformities.It is not uncommon for these diseases to occur individually, but it is extremely rare for them to occur simultaneously in a patient.To our knowledge, such a case has not been reported.Herein, we report a case of an adolescent suffering from CM-1 with syringomyelia who simultaneously had scoliosis, tethered cord and diastematomyelia.Whole-exome sequencing (WES) was performed to explore and illustrate the genetic basis.

Diastematomyelia

Spinal dysraphism

Chiari Malformation

Neuroradiology

10.1007/s13760-023-02197-y

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Citations (1)

Mechanism of Ion Channel Impairment in the Occurrence of Arrhythmia in Patients with Hypertrophic Cardiomyopathy

Cardiology in Review (2023)

Ke Zhang Shengwei Wang Xiaoyan Li Hao Cui Yongqiang Lai

Sudden cardiac death is the most unpredictable and devastating consequence of hypertrophic cardiomyopathy, most often caused by persistent ventricular tachycardia or ventricular fibrillation. Although myocardial hypertrophy, fibrosis, and microvascular disorders are the main mechanisms of persistent reentrant ventricular arrhythmias in patients with advanced hypertrophic cardiomyopathy, the cardiomyocyte mechanism based on ion channel abnormalities may play an important role in the early stages of the disease.

Sudden Death

Myocardial fibrosis

Fibrillation

10.1097/crd.0000000000000612

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Citations (1)

Effect of 5-aminolevulinic acid photodynamic therapy on the expression of apoptosis inhibitors Bcl-2 and Survivin in keratinocytes of condyloma acuminatum

Photodiagnosis and Photodynamic Therapy (2019)

Guangwen Yin Xiaoyan Li Xiaoyun Wang Hua Zhang

Survivin

Condyloma Acuminatum

10.1016/j.pdpdt.2019.07.018

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Citations (10)

Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy

Frontiers in Genetics (2021)

Libin Deng Jingsong Xu Wei Chen Shicheng Guo Robert D. Steiner

To investigate refractory hypercholesterolemia, a female patient and relatives were subjected to whole-genome sequencing. The proband was found to have compound heterozygous substitutions p. Arg446Gln and c.1118+3G>T in ABCG5, one of two genes causing sitosterolemia. When tracing these variants in the full pedigree, all maternally related heterozygotes for the intronic ABCG5 variant exhibited large platelets (over 30 fl), which segregated in an autosomal dominant manner, consistent with macrothrombocytopenia, or large platelet syndrome which may be associated with a bleeding tendency. In vitro cell-line and in vivo rat model experiments supported a pathogenic role for the variant and the macrothrombocytopenia was recapitulated in heterozygous rats and human cell lines exhibiting that single variant. Ezetimibe treatment successfully ameliorated all the symptoms of the proband with sitosterolemia and resolved the macrothrombocytopenia of the treated heterozygote relatives. Subsequently, in follow up these observations, platelet size, and size distribution were measured in 1,180 individuals; 30 were found to be clinically abnormal, three of which carried a single known pathogenic ABCG5 variant (p.Arg446Ter) and two individuals carried novel ABCG5 variants of uncertain significance. In this study, we discovered that identification of large platelets and therefore a possible macrothrombocytopenia diagnosis could easily be inadvertently missed in clinical practice due to variable instrument settings. These findings suggest that ABCG5 heterozygosity may cause macrothrombocytopenia, that Ezetimibe treatment may resolve macrothrombocytopenia in such individuals, and that increased attention to platelet size on complete blood counts can aid in the identification of candidates for ABCG5 genetic testing who might benefit from Ezetimibe treatment.

Proband

Ezetimibe

Compound heterozygosity

Abnormality

10.3389/fgene.2021.769699

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Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework

International Journal of Genomics (2020)

Liting Cheng Xiaoyan Li Lin Zhao Zefeng Wang Junmeng Zhang

Next-generation sequencing (NGS) has become more accessible, leading to an increasing number of genetic studies of familial bradycardia being reported. However, most of the variants lack full evaluation. The relationship between genetic factors and bradycardia should be summarized and reevaluated.We summarized genetic studies published in the PubMed database from 2008/1/1 to 2019/9/1 and used the ACMG/AMP classification framework to analyze related sequence variants.We identified 88 articles, 99 sequence variants, and 34 genes after searching the PubMed database and classified ABCC9, ACTN2, CACNA1C, DES, HCN4, KCNQ1, KCNH2, LMNA, MECP2, LAMP2, NPPA, SCN5A, and TRPM4 as high-priority genes causing familial bradycardia. Most mutated genes have been reported as having multiple clinical manifestations.For patients with familial CCD, 13 high-priority genes are recommended for evaluation. For genetic studies, variants should be carefully evaluated using the ACMG/AMP variant classification framework before publication.

LMNA

Medical genetics

10.1155/2020/2415850

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Citations (1)

Laboratory test results of confirmed COVID-19 cases in Tianjin and related influencing factors/ 天津市新型冠状病毒肺炎确诊病例病原学检测结果及影响因素分析

Zhonghua weishengwuxue he mianyixue zazhi (2020)

Xiaoyan Li Xin Gao Liru Guo Likun Lyu Lei Yue

Objective: To study the characteristics and influence factors of laboratory test results of confirmed COVID-19 cases in Tianjin. Methods: Sample collection was conducted based on the standard operating procedure. Tianlong automatic magnetic bead nucleic acid extraction reagent was used for RNA extraction. Real-time RT-PCR was performed using four approved COVID-19 nucleic acid detection kits. Related epidemiological data of the cases were collected. One-way analysis of variance and non-parametric test for inter-group differences analysis were conducted using SPSS25.0 software. Results: A total of 162 PCR tests were completed for novel coronavirus nucleic acid detection in 123 confirmed COVID-19 cases. Eleven PCR results were positive for a single target gene and 10 of which were positive for nucleocapsid protein (N) gene. Nineteen cases were tested with two kinds of nucleic acid detection kits and the results of different detection kits were different. Different types of samples were collected form 13 cases for nucleic acid detection and the results showed that the Ct value of sputum sample was lower than that of throat swab sample. No significant difference in Ct values of throat swab samples was observed among patients with different clinical symptoms (P Ct-N=0.797, P Ct-ORF1a/b=0.551). The 123 cases were divided into different groups according to the time interval between the onset date and the date of the first positive detection of viral nucleic acid. No significant difference in Ct values of throat swab samples was observed among different time interval groups (P Ct-N=0.373, P Ct-ORF1a/b=0.058). Conclusions: Sputum samples were better than upper respiratory tract samples for viral nucleic acid detection. The sensitivity of N gene detection was higher, but re-sampling was needed when the result was positive for the single target N gene. Appropriate detection kits should be selected according to the actual needs, and samples should be collected at multiple time points, in multiple types and form multiple sites for detection.

Throat

Source

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Efficacy of PARPi re-maintenance therapy for recurrent ovarian cancer

Frontiers in Oncology (2025)

Yulin Wang Yunjie Yang Binghong Guo Xiaoyan Li Renakezi Tuersun

The current clinical data regarding the re-administration of PARPi maintenance therapy in platinum sensitive recurrent ovarian cancer (PSROC) is limited. This study aims to investigate the efficacy and associated factors of PARPi re-maintenance therapy in PSROC patients in China. In this study, there were 201 patients with PSROC who had received maintenance therapy previously and achieved complete or partial response after platinum-based chemotherapy upon recurrence. The re-maintenance therapy group (Re-PARPi) and chemotherapy alone group (Chem-A) were categorized based on whether PARPi was reused after recurrence chemotherapy. A propensity-score matching (PSM) analysis was conducted between re-maintenance therapy group (Re-PARPi-P) and chemotherapy alone group(Chem-A-P)to adjust for imbalanced risk factors. The efficacy was evaluated via progression-free survival (PFS) and prognostic factors were also analyzed. In the PSM subgroup, the median PFS (mPFS) of Re-PARPi-P group (44 cases) and Chem-A-P (44 cases) group were 10.0 months and 6.5 months (HR 1.64, P=0.041) respectively, confirming that re-maintenance therapy was superior to relapse chemotherapy alone. The mPFS was 10.8 months in all patients in the Re-PARPi group (51 cases), with 11.0 months in BRCAm group and 10.2 months in BRCAwt group (P=0.806). Intervals of more than 6 months between two PARPi therapies might improve the efficacy of PARPi re-treatment (mPFS 11.2 months vs. 7.8 months, HR 3.94, P=0.005). Age, BRCA status, number of previous treatment lines, CA125 level prior to re-administration, and other factors were not significantly related to the efficacy of re-maintenance therapy. Patients with a frameshift mutation (p. Ile1824Aspfs3) in the C-terminal domain of BRCA1 germline gene had significantly better efficacy with PARPi re-treatment compared to other groups. Only nonsense mutation (p.Gln1037, p.Cys328, p.Leu1072) occur in BRCA germline gene with re-treatment with PARPi might be suboptimal. The incidence of PARRi re-treatment interruption was 3.9%. PARPi re-maintenance therapy in PSROC might improve prognosis compared to chemotherapy alone, regardless of their genetic mutation status. Patients with re-maintenance therapy might benefit if the interval between the use of PARP inhibitors exceeded 6 months. The structural domains of BRCA mutations with different sensitivity to PARPi might serve as a promising biomarker for optimizing treatment. Re-treatment with PARPi was well-tolerated.

Maintenance therapy

10.3389/fonc.2024.1512339

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Molecular Mechanism and Morphology in Cancer

BENTHAM SCIENCE PUBLISHERS eBooks (2010)

Misa Nakamura Kennichi Kakudo Seiichi Hirota Koji Isozaki Yoji Nagashima

The WHO report estimates that 12 million people will be diagnosed with some form of cancer this year. In addition, the report predicts that more than 7 million people will die early from the disease. Together, the number of cancer cases and deaths from cancer are expected to increase by one percent each year. Cancer research has seen remarkable advancements, including the multi-step carcinogenesis theory and the identification of a cancer stem cell. These advancements are being applied to clinical therapies targeting the oncogene. In addition, the function of the gene product is becoming clear through analysis of the intracellular signaling of the oncogene. As a result, it has become clear that the morphologies of the cancers depend on the kind of the abnormal gene. Of course, these differences would influence patient's life and death and is summarized by specialists in this area. This theme includes the full range of human diseases regarding medical genetics, biochemistry, microbiology, immunology, anatomy, pathology, structural biology, molecular cell biology, neuroscience and developmental biology. The eBook contains articles written by specialists in this area. It should prove to be of great use to clinicians and scientists in all medical fields.

Identification

10.2174/97816080507341100101

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Citations (2)

The diagnostic and prognostic performance of Lp-PLA2 in acute ischemic stroke

Medicina Clínica (English Edition) (2021)

Xiaoyan Li Lei Xu Zhongxin Xu

Stroke

Lipoprotein-associated phospholipase A2

10.1016/j.medcle.2020.11.019

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Citations (4)