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Dissecting the cell microenvironment of ovarian endometrioma through single-cell RNA sequencing

Science China Life Sciences 2025年第1期 116-129页

作者： Jiangpeng Wu Siyu Xia Wenting Ye Yan Sun Jing Cai Fubing Yu Haiping Wen Xiuwei Yi Taikang Li Mingwei Chen Jiayun Chen Ge Song Chuanbin Yang Yali Song Jigang Wang Department of Reproductive Medicine Dongguan Maternal and Child Health Care Hospital Department of Urology and Shenzhen Clinical Research Centre for GeriatricsShenzhen People's HospitalSouthern University of Science and Technology State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs Artemisinin Research Centerand Institute of Chinese Materia MedicaChina Academy of Chinese Medical Sciences Reproductive Medicine center Foshan Women and Children Hospital State Key Laboratory of Antiviral Drugs School of PharmacyHenan University

Ovarian endometrioma（OE）, also known as “chocolate cysts,” is a cystic mass that develops in the ovaries due to endometriosis and is a common gynecological condition characterized by the growth of endometrial tissue outside the uterus, leading to symptoms such as dysmenorrhea, pelvic pain, and infertility. However, the precise molecular and cellular mechanisms driving this pathophysiology remain largely unknown, posing challenges for diagnosis and treatment. Here, we employed integrated single-cell transcriptomic profiling of over 52,000 individual cells from endometrial tissues of OE patients and healthy donors and identified twelve major cell populations. We identified notable alterations in cell type-specific proportions and molecular signatures associated with OE. Notably, the activation of IGFBP5+macrophages with pro-inflammatory properties, NK cell exhaustion, and aberrant proliferation of IQCG+and KLF2+epithelium are key features and may be the potential mechanisms underlying the pathogenesis of OE. Collectively, our data contribute to a better understanding of OE at the single cell level and may pave the way for the development of novel therapeutic strategies.

关键词： ovary high-throughput sequencing transcriptomics gene expression analysis ligand-receptor analysis

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Single-cell omics: experimental workflow, data analyses and applications

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Science China Life Sciences 2025年第1期68卷 5-102页

作者： Fengying Sun Haoyan Li Dongqing Sun Shaliu Fu Lei Gu Xin Shao Qinqin Wang Xin Dong Bin Duan Feiyang Xing Jun Wu Minmin Xiao Fangqing Zhao Jing-Dong J.Han Qi Liu Xiaohui Fan Chen Li Chenfei Wang Tieliu Shi Department of clinical Laboratory the Affiliated Wuhu Hospital of East China Normal University (The Second People's Hospital of Wuhu City) Pharmaceutical Informatics Institute College of Pharmaceutical SciencesZhejiang University Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration (Tongji University) Ministry of EducationOrthopaedic DepartmentTongji HospitalBioinformatics DepartmentSchool of Life Sciences and TechnologyTongji University Frontier Science center for Stem Cells School of Life Sciences and TechnologyTongji University Translational medical center for Stem Cell Therapy and Institute for Regenerative Medicine Shanghai East HospitalBioinformatics DepartmentSchool of Life Sciences and TechnologyTongji University research Institute of Intelligent Computing Zhejiang Lab Shanghai research Institute for Intelligent Autonomous Systems center for Single-cell Omics School of Public HealthShanghai Jiao Tong University School of Medicine National Key Laboratory of Chinese Medicine Modernization Innovation Center of Yangtze River DeltaZhejiang University center for Bioinformatics and Computational Biology Shanghai Key Laboratory of Regulatory Biologythe Institute of Biomedical Sciences and School of Life SciencesEast China Normal University Beijing Institutes of Life Science Chinese Academy of Sciences Peking-Tsinghua center for Life Sciences Academy for Advanced Interdisciplinary StudiesCenter for Quantitative Biology (CQB)Peking University Zhejiang Key Laboratory of Precision Diagnosis and Therapy for Major Gynecological Diseases Women's HospitalZhejiang University School of Medicine Key Laboratory of Advanced Theory and Application in Statistics and Data Science-MOE School of StatisticsEast China Normal University

Cells are the fundamental units of biological systems and exhibit unique development trajectories and molecular features. Our exploration of how the genomes orchestrate the formation and maintenance of each cell, and control the cellular phenotypes of various organismsis, is both captivating and intricate. Since the inception of the first single-cell RNA technology, technologies related to single-cell sequencing have experienced rapid advancements in recent years. These technologies have expanded horizontally to include single-cell genome, epigenome,proteome, and metabolome, while vertically, they have progressed to integrate multiple omics data and incorporate additional information such as spatial sc RNA-seq and CRISPR screening. Single-cell omics represent a groundbreaking advancement in the biomedical field,offering profound insights into the understanding of complex diseases, including cancers. Here, we comprehensively summarize recent advances in single-cell omics technologies, with a specific focus on the methodology section. This overview aims to guide researchers in selecting appropriate methods for single-cell sequencing and related data analysis.

关键词： single-cell sequencing genome epigenome proteomics metabolomics multimodal spatial transcriptomics CRISPR screening

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The mucolipidosis Ill-causing mutation in GNPTAB,c.1760G>C,disrupts the development of somites in rats

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Genes & Diseases 2024年第6期11卷 73-75页

作者： Tianying Nong Jiangui Li Xia Li Yiqiang Li Zhaohui Li Weizhe Shi Qiuchan Zhou Hongwen Xu Mingwei Zhu Ya-Ping Tang Guangzhou Institute of Pediatrics Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouGuangdong 510623China Department of Pediatric Orthopedics Guangzhou Women and Children's Medical CenterGuangdong Provincial Clinical Research Center for Child HealthGuangzhouGuangdong 510623China

Mucolipidosis(ML)II(OMIM 252500)and I=Iα/β(OMIM 252600)are a group of rare lysosomal storage disorders caused by mis-sorting of lysosomal hydrolases and the subsequent accumulation of nondegraded *** disorders manifest as multiple-systemic abnormalities throughout the body,mainly including severe dysplasia,short stature,scoliosis,joint stiffness,joint contractures,claw-hand deformities,craniofacial deformities,retinal degeneration,mental retardation,cognitive impairment,and internal organ dysfunction.

关键词： law dis sorting

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Gp78 regulates PMP22 and causes ER stress and autophagy in EV71-VP1-overexpressing mouse Schwann cells

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BIOCELL 2024年第4期48卷 653-664页

作者： DANPING ZHU GUANGMING LIU KUAN FENG SUYUN LI DANDAN HU SIDA YANG PEIQING LI Pediatric Emergency Department Guangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouChina Department of Child Health Care Guangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouChina Pediatric Neurology Department Guangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouChina

Background:During Enterovirus type 71(EV71)infection,the structural viral protein 1(VP1)activates endoplasmic reticulum(ER)stress associated with peripheral myelin protein 22(PMP22)accumulation and induces ***,the speciﬁc mechanism behind this process remains ***:In this research,we used the VP1-overexpressing mouse Schwann cells(SCs)models co-transfected with a PMP22 silencing or Autocrine motility factor receptor(AMFR/gp78)overexpressing vector to explore the regulation of gp78 on PMP22 and its relationship with autophagy and ***:The activity of gp78 could be inﬂuenced by EV71-VP1,leading to a decrease in the ubiquitination and degradation of PMP22,resulting in PMP22 accumulation in *** VP1-overexpressing mouse SCs,all three ER stress sensors,including pancreatic endoplasmic reticulum kinase(PERK),activating transcription factor 6(ATF6)and inositol-requiring enzyme 1(IRE1)and the related downstream signals(C/EBP-homologous protein(CHOP)and Caspase 12)were activated,as well as the ER-resident chaperone Glucose-regulated protein 78(GRP78).In addition,VP1 upregulated the autophagy marker Microtubule-associated protein 1 light chain 3 beta(LC3B),while PMP22 silencing or gp78 overexpression reversed the ***,PMP22 silencing or gp78 overexpression increased proliferation of EV71-VP1-transfected mouse ***:Gp78 could regulate PMP22 accumulation through ubiquitination degradation and cause ER stress and autophagy in EV71-VP1-overexpressing mouse ***,the gp78/PMP22/ER stress axis might emerge as a promising therapeutic target for myelin and neuronal damage induced by EV71 infection.

关键词： Enterovirus type 71 AMFR/gp78 PMP22 Autophagy Schwann cells

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Novel de novo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation

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Genes & Diseases 2024年第3期11卷 83-86页

作者： Ping Wei Weizhe Shi Tianying Nong Caixia Xian Xia Li Zhaohui Li Xin Li Jianping Wu Liyuan Shang Fulong Xu Yibo Xu Hongwen Xu Mingwei Zhu Guangzhou Institute of Pediatrics Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouGuangdong 510623China Department of Pediatric Orthopedics Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouGuangdong 510623China

Metatropicdysplasia(MD,MIM156530)is a rare congenital bone dysplasia primarily characterized by severe platyspondyly with long and wide vertebral bodies and dumbbell deformity of the tubular *** can be caused by heterozygous mutations in the gene encoding transient receptor potential vanilloid family member 4(TRPV4).We identifieda novel de novo mutation,c.2353T>C,in the TRPV4 gene,in a Chinese family with mild MD.

关键词： TRPV4 dysplasia congenital

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Persistent alterations in gray matter in COVID-19 patients experiencing sleep disturbances:a 3-month longitudinal study

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Neural Regeneration research 2025年第10期20卷 3013-3024页

作者： Kaixuan Zhou Gaoxiong Duan Ying Liu Bei Peng Xiaoyan Zhou Lixia Qin Lingyan Liang Yichen Wei Qingping Zhang Xiaocheng Li Haixia Qin Yinqi Lai Yian Lu Yan Zhang Jiazhu Huang Jinli Huang Yinfei Ouyang Bolin Bin Mingming Zhao Jun Liu Jianrong Yang Demao Deng Guangxi Key Laboratory of Special Biomedicine School of MedicineGuangxi UniversityNanningGuangxi Zhuang Autonomous RegionChina Department of Radiology the People’s Hospital of Guangxi Zhuang Autonomous RegionGuangxi Academy of Medical SciencesNanningGuangxi Zhuang Autonomous RegionChina Department of Sleep Medicine the People’s Hospital of Guangxi Zhuang Autonomous RegionNanningGuangxi Zhuang Autonomous RegionChina Department of Radiology The Second Xiangya HospitalCentral South UniversityChangshaHunan ProvinceChina Guangxi clinical research center for Sleep Medicine the People’s Hospital of Guangxi Zhuang Autonomous RegionNanningGuangxi Zhuang Autonomous RegionChina

Sleep disturbances are among the most prevalent neuropsychiatric symptoms in individuals who have recovered from severe acute respiratory syndrome coronavirus 2 *** studies have demonstrated abnormal brain structures in patients with sleep disturbances who have recovered from coronavirus disease 2019(COVID-19).However,neuroimaging studies on sleep disturbances caused by COVID-19 are scarce,and existing studies have primarily focused on the long-term effects of the virus,with minimal acute phase *** a result,little is known about the pathophysiology of sleep disturbances in the acute phase of *** address this issue,we designed a longitudinal study to investigate whether alterations in brain structure occur during the acute phase of infection,and verified the results using 3-month follow-up data.A total of 26 COVID-19 patients with sleep disturbances(aged 51.5±13.57 years,8 women and 18 men),27 COVID-19 patients without sleep disturbances(aged 47.33±15.98 years,9 women and 18 men),and 31 age-and gender-matched healthy controls(aged 49.19±17.51 years,9 women and 22 men)were included in this *** COVID-19 patients with sleep disturbances were included in a longitudinal *** found that COVID-19 patients with sleep disturbances exhibited brain structural changes in almost all brain *** cortical thicknesses of the left pars opercularis and left precuneus were significantly negatively correlated with Pittsburgh Sleep Quality Index ***,we observed changes in the volume of the hippocampus and its subfield regions in COVID-19 patients compared with the healthy *** 3-month follow-up data revealed indices of altered cerebral structure(cortical thickness,cortical grey matter volume,and cortical surface area)in the frontal-parietal cortex compared with the baseline in COVID-19 patients with sleep *** findings indicate that the sleep disturbances patients had altered morphology in the cortical an

关键词： brain structure cortical gray matter volume cortical surface area cortical thickness hippocampus magnetic resonance imaging Pittsburgh Sleep Quality Index severe acute respiratory syndrome coronavirus 2 infections sleep disturbances sub-cortical volume

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Nomograms based on HPV load for predicting survival in cervical squamous cell carcinoma: An observational study with a longterm follow-up

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Chinese Journal of Cancer research 2019年第2期31卷 389-399页

作者： Jing Zuo Ying Huang Jusheng An Xi Yang Ning Li Manni Huang Lingying Wu Department of Gynecologic Oncology National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital Chinese Academy of Medical Sciences and Peking Union Medical College women's Health Integrated research center the Henry Jackson Foundation

Objective: To investigate the prognostic value of pretreatment human papillomavirus(HPV) viral load for cervical cancer, and to develop nomograms based on HPV load and other clinicopathological factors for long-term ***: We conducted a prospective study on cervical squamous cell carcinoma(SCC) patients diagnosed between January 2003 and December 2008. Cervical samples were tested for HPV viral load by the Hybrid Capture II(HCII) assay before treatment and 6 months after treatment. clinical characteristics and follow-up information were also collected. A multivariable Cox proportional hazards model was used to adjust covariates in both the radical hysterectomy(RH) treatment group and concurrent chemoradiotherapy(CCRT) treatment group to identify relevant covariates, and then nomograms were constructed and used for internal ***: A total of 520 SCC patients enrolled in this study with a median follow-up of 127 months, 360 patients received RH, whereas 160 patients received CCRT. The median HPV viral load in RH and CCRT groups was356.10 and 294.29, respectively. Tumor size was positively correlated with high pretreatment HPV load in both groups. In CCRT group, the advanced International Federation of Gynecology and Obstetrics(FIGO) stage and enlarged retroperitoneal lymph node status determined by computed tomography(LNSCT) were correlated with low HPV load group. Initial HPV viral load, FIGO stage and lymph node metastasis were prognostic factors for RH group, whereas HPV viral load, squamous cell carcinoma antigen(SCC-Ag) level and LNSCT were identified as prognostic factors for CCRT group. Nomograms incorporating these predictors for 10-year progression-free survival(PFS) were constructed [concordance index(C-index): 0.756, 0.749].Conclusions: A low pretreatment HPV viral load is an independent prognostic factor for poor prognosis of cervical SCC and is related to other clinicopathological factors. The survival nomogram based on HPV viral

关键词： Cervical squamous cell carcinoma human papillomavirus viral load survival nomogram

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Novel PLCZ1 mutation caused polyspermy during in vitro fertilization

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Asian Journal of Andrology 2024年第4期26卷 389-395页

作者： Ke-Ya Tong Wei-Wei Liu Li-Wei Sun Dong-Yun Liu Ye-Zhou Xiang Chong Li Lu-Wei Chai Ke Chen Guo-Ning Huang Jing-Yu Li Chongqing Key Laboratory of Human Embryo Engineering Center for Reproductive MedicineWomen and Children’s Hospital of Chongqing Medical UniversityChongqing 400012China Chongqing clinical research center for Reproductive Medicine Center for Reproductive MedicineChongqing Health Center for Women and ChildrenChongqing 400012China.

Failure of oocyte activation,including polyspermy and defects in pronuclear(PN)formation,triggers early embryonic developmental *** studies have shown that phospholipase C zeta 1(PLCZ1)mutations cause failure of PN formation following intracytoplasmic sperm injection(ICSI);however,whether PLCZ1 mutation is associated with polyspermy during in vitro fertilization(IVF)remains ***-exome sequencing(WES)was performed to identify candidate mutations in couples with primary *** sequencing was used to validate the *** PLCZ1-mutated sperm were injected into human and mouse oocytes to explore whether PN formation was *** oocyte activation(AOA)after ICSI was performed to overcome the failure of oocyte *** identified three PLCZ1 mutations in three patients who experienced polyspermy during IVF cycles,including a novel missense mutation c.1154C>T,*** formation failure was observed during the ICSI ***,injection of multiple PLCZ1-mutated sperm induced PN formation,suggesting that the Ca2+oscillations induced by the sperm exceeded the necessary threshold for PN *** after ICSI enabled normal fertilization,and all patients achieved successful *** findings expand the mutational spectrum of PLCZ1 and suggest an important role for PLCZ1 in terms of blocking ***,this study may benefit genetic diagnoses in cases of abnormal fertilization and provide potential appropriate therapeutic measures for these patients with sperm-derived polyspermy.

关键词： AOA PLCZ1 polyspermy pronuclear formation

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Specific convulsions and brain damage in children hospitalized for Omicron BA.5 infection:an observational study using two cohorts

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World Journal of Pediatrics 2024年第10期20卷 1079-1089页

作者： Yuan-Yuan Pei Hong-Li Wang Gen-Quan Yin Yi Xu Jian-Hao Tan Xin-Hua Liang Hui-Ying Wu Xun-Tao Yin Chun-Xiao Fang Jun-Zheng Peng Zhi-Yuan Wu Yi Sun Run Dang Yu-Feng Liang Hong-Mei Tang You-Yi Li Zhong-Xiang Qiao Zhi-Cheng Liang Jian-Ping Tang Fan-Sen Zeng Ke-Lu Zheng Yi-Ru Zeng Xiao-Jun Cao Hui-Min Xia Jian-Rui Wei Jin-Ling Tang Si-Tang Gong clinical Data center Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Department of Gastroenterology Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Department of Internal Medicine Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Department of Infectious Diseases Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Information Department Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China School of Pediatrics Guangzhou Medical UniversityGuangzhou 510623China Imaging Department Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Respiratory Department Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Pediatric Intensive Care Unit Guangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangzhou510623China Neonatal Intensive Care Unit Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Rehabilitation Department Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China General Pediatrics Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou510623China Emergency Department Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Department of Neurology Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Key Laboratory of Structural Birth Defects research in Guangdong Province Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Cardiovascular Department Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Shenzhen Institute of Advanced Technology Chinese Academy of SciencesShen

Background SARS-CoV-2 continues to mutate over time,and reports on children infected with Omicron BA.5 are *** aimed to analyze the specific symptoms of Omicron-infected children and to improve patient *** We selected 315 consecutively hospitalized children with Omicron BA.5 and 16,744 non-Omicron-infected febrile children visiting the fever clinic at our hospital between December 8 and 30,*** convulsions and body temperatures were compared between the two *** analyzed potential associations between convulsions and vaccination,and additionally evaluated the brain damage among severe Omicron-infected *** Convulsion rates(97.5%vs.4.3%,P<0.001)and frequencies(median:2.0 vs.1.6,P<0.001)significantly differed between Omicron-infected and non-Omicron-infected febrile *** body temperatures of Omicron-infected children were significantly higher during convulsions than when they were not convulsing and those of non-Omicron-infected febrile children during convulsions(median:39.5 vs.38.2 and 38.6℃,both P<0.001).In the three Omicron-subgroups,the temperature during convulsions was proportional to the percentage of patients and significantly differed(P<0.001),while not in the three non-Omicron-subgroups(P=0.244).The convulsion frequency was lower in the 55 vaccinated children compared to the 260 non-vaccinated children(average:1.8 vs.2.1,P<0.001).The vaccination dose and convulsion frequency in Omicron-infected children were significantly correlated(P<0.001).Fifteen of the 112 severe Omicron cases had brain *** Omicron-infected children experience higher body temperatures and frequencies during convulsions than those of non-Omicron-infected febrile *** additionally found evidence of brain damage caused by infection with omicron *** and prompt fever reduction may relieve symptoms.

关键词： Body temperature Brain damage:Children:Convulsion Omicron BA.5.Vaccination

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Interpretation of breast cancer screening guideline for Chinese women

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Cancer Biology & Medicine 2019年第4期16卷 825-835页

作者： Yubei Huang Zhongsheng Tong Kexin Chen Ying Wang Peifang Liu Lin Gu Juntian Liu Jinpu Yu Fengju Song Wenhua Zhao Yehui Shi Hui Li Huaiyuan Xiao Xishan Hao Department of Epidemiology and Statistics Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Medicine Department of Breast Oncology Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China China Anti-Cancer Association Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Department of Breast Imaging Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China The 2nd Surgery Department of Breast Oncology Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Cancer Prevention center Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Department of Gastrointestinal Cancer Biology Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Department of research and Education Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China

Breast cancer is the most common malignant tumor in Chinese *** screening is the best way to improve the rates of early diagnosis and survival of breast cancer *** peak onset age for breast cancer in Chinese women is considerably younger than those in European and American *** is imperative to develop breast cancer screening guideline that is suitable for Chinese *** summarizing the current evidence on breast cancer screening in Chinese women,and referring to the latest guidelines and consensus on breast cancer screening in Europe,the United States,and East Asia,the China Anti-Cancer Association and National clinical research center for Cancer(Tianjin medical University Cancer Institute and Hospital)have formulated population-based guideline for breast cancer screening in Chinese *** guideline provides recommendations on breast cancer screening for Chinese women at average or high risk of breast cancer according to the following three aspects:age of screening,screening methods,and screening *** article provides more detailed information to support the recommendations in this guideline and to provide more direction for current breast cancer screening practices in China.

关键词： Breast cancer screening ultrasound mammography guideline

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