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World Journal of Diabetes 2017年第7期8卷 374-380页

作者： Mohsen Mazidi Peyman Rezaie Ali Jangjoo Alireza Tavassoli Mohammad Taghi Rajabi Andre Pascal Kengne Mohsen Nematy Key State Laboratory of Molecular Develo-pmental Biology Institute of Genetics and Developmental Biology Chinese Academy of Sciences Institute of genetics and developmental Biology International College University of Chinese Academy of Science Biochemistry and Nutrition Research center School of Medicine Mashhad University of Medical Science department of Surgery Ghaem Hospital Mashhad University of Medical Sciences Non--Communicable Disease Research Unit South African Medical Research Council and University of Cape Town

AIM To investigate changes in adiposity and cardio-metabolic risk profile following Roux-en-Y gastric bypass in patients of Middle Eastern ethnicity with severe *** This prospective cohort study involved 92 patients who met the indications of bariatric surgery. Post-procedure markers of obesity and cardiometabolic profile were monitored regularly for a *** Mean body mass index decreased by 29.5% from 41.9 to 29.5 kg/m^2 between baseline and 12-mo follow-up, while mean fat mass decreased by 45.9% from 64.2 kg to 34.7 kg. An improvement was also observed in the glucometabolic profile with both fasting glucose and HbA 1csubstantially decreasing(P < 0.001).CONCLUSION The present study shows the short to medium term(1 year) health benefits of bariatric surgery for patients of Middle Eastern ethnicity.

关键词： Bariatric surgery Anthropometric indices Metabolic profile Cardiometabolic risk

Rapid and efficient wounding for in vivo studies of neuronal dendrite regeneration and degeneration

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Journal of genetics and Genomics 2021年第2期48卷 163-166页

作者： Jianzhi Zhao Xiaojie Wang Xinan Meng Wei Zou Suhong Xu center for Stem Cell and regenerative medicine and department of Cardiology of the Second Affiliated Hospital Zhejiang University School of MedicineHangzhou 310058 China The Fourth Affiliated Hospital Zhejiang University School of MedicineYiwu 322000China Institute of Translational medicine Zhejiang UniversityHangzhou 310058China

Dendrite growth and branching occur mainly during the developmental stage,and their spatial and temporal wiring is highly linked to the proper functioning of neuronal networks(Jan and Jan,2003).Although it is well known that neuronal dendrites are easily damaged during traumatic brain injury,stroke,and seizure,very little is known about how neurons respond to dendrite injury and initiate regeneration(Liu and Jan,2020).Thus,understanding the cellular and molecular mechanisms of dendrite regeneration and maintenance after injury holds the key to develop novel treatments for human brain damage.

关键词： holds branching damage

Two cases of variant late infantile ceroid lipofuscinosis in Jordan

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World Journal of Clinical Cases 2019年第2期7卷 203-208页

作者： Omar Nafi Bashar Ramadan Olaf Riess Rebecca Buchert Tawfiq Froukh department of Pediatrics Faculty of Medicine Mutah University Institute of Medical genetics and Applied Genomics Rare Disease Center University of Tübingen department of Biotechnology and Genetic Engineering Philadelphia University

BACKGROUND Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. The cases were initially considered as childhood disintegrative disorder(CDD); however, when whole exome sequencing(WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. This is the first report from *** SUMMARY Clinical presentation included developmental delay and initially speech delay,followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia(fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test,thyroid function test, and a brain computed tomography scan were also *** electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative *** This report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

关键词： Ceroid lipofuscinosis Childhood disintegrative disorder Lysosomal storage disorders Neurodegenerative disorders Variant late infantile Case report

A preliminary observation on efficacy of growth hormone on poor ovarian responders in IVF/ICSI cycles

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Journal of Reproduction and Contraception 2016年第1期27卷 12-17页

作者： Jian-ping OU Wei-jie XING Tao LI Jie-ru ZHU Wei-jie ZHU center for Reproductive medicine the Third Affiliated Hospital of Sun Yat-sen University department of developmental and regenerative Biology College of Life Science and Technology Jinan University

Objective To determine efficacy of gonadotropin （Gn） co-treated with growth hormone （GH） on poor ovarian response （POR） patients undergoing in vitro fertiliza- tion/intracytoplasmic sperm injection （1VF/ICSI）. Methods A total of 58 IVF/ICSI-embryo transfer （ET） cycles in POR patients were retrospectively identified. The POR criteria were defined by Bologna consensus. The cycles were divided into two groups： Gn co-treated with GH group （GH~ group, 25 cycles） and Gn only group （GH- group, 33 cycles）. Results of lVF/ICSI for these two groups were compared. Results The number of oocyte retrieved and the normal fertilization rate in the two groups were no difference （P〉O.05）. High-quality embryo rate and implantation rate in the GH＋ group were 39.6% and 38.5%, respectively, which were slightly higher than those in the GH group （35.9% and 25.0%）, but no difference was found on these two parameters （P〉0. 05）. Conclusion GH, to some extent, can improve the quality of embryo and the implantation rate. Whether GH co-therapy has a definite role in improving the outcome of POR patients still needs further evaluation.

关键词： growth hormone (GH) poor ovarian response (POR) in vitro fertilization (IVF) intracytoplasmic sperm injection (ICSI)

Identification and characterization of human hematopoietic mesoderm

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Science China(Life Sciences) 2024年第2期67卷 320-331页

作者： Yuqi Wen Jingjing Zhao Runqing Zhang Fan Liu Xiaoyuan Chen Dan Wu Mengge Wang Cuicui Liu Pei Su Panpan Meng Yiyue Zhang Xin Gao Lu Wang Hongtao Wang Jiaxi Zhou State Key Laboratory of Experimental Hematology National Clinical Research Center for Blood DiseasesHaihe Laboratory of Cell EcosystemInstitute of Hematology&Blood Diseases HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeTianjin 300020China Tianjin Institutes of Health Science Tianjin 301600China CAMS center for Stem Cell medicine PUMC Department of Stem Cell and Regenerative MedicineTianjin 300020China Division of Cell Developmental and Integrative BiologySchool of MedicineSouth China University of TechnologyGuangzhou 510006China

The embryonic mesoderm comprises heterogeneous cell subpopulations with distinct lineage *** is unclear whether a bias for the human hematopoietic lineage emerges at this early developmental *** this study,we integrated single-cell transcriptomic analyses of human mesoderm cells from embryonic stem cells and embryos,enabling us to identify and define the molecular features of human hematopoietic mesoderm(HM)cells biased towards hematopoietic *** discovered that BMP4 plays an essential role in HM specification and can serve as a marker for HM ***,BMP4 acts as a downstream target of HDAC1,which modulates the expression of BMP4 by deacetylating its *** of HDAC significantly enhances HM specification and promotes subsequent hematopoietic cell *** conclusion,our study identifies human HM cells and describes new mechanisms for human hematopoietic development.

关键词： hematopoietic mesoderm human pluripotent stem cells human embryos BMP4 HDAC1

Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload

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Science China Life Sciences 2024年

作者： Hongyu Li Qingwen Ma Yan Xue Linlin Cai Liwen Bao Lei Hong Yitao Zeng Shuzhen Huang Richard H.Finnell Fanyi Zeng Shanghai Institute of Medical genetics Shanghai Children's Hospital Shanghai Jiao Tong University School of Medicine department of Histo-Embryology Genetics and Developmental Biology Shanghai Jiao Tong University School of Medicine NHC Key Laboratory of Medical Embryogenesis and developmental Molecular Biology Shanghai Key Laboratory of Embryo and Reproduction Engineering center for Precision Environmental Health Baylor College of Medicine School of Pharmacy Macau University of Science and Technology

Autosomal recessive spinocerebellar ataxias（SCARs） are one of the most common neurodegenerative diseases characterized by progressive ataxia. Although SCARs are known to be caused by mutations in multiple genes, there are still many cases that go undiagnosed or are misdiagnosed. In this study, we presented a SCAR patient, and identified a probable novel pathogenic mutation（c.1A>G, p.M1V） in the AFG3L2 start codon. The proband's genotype included heterozygous mutations of the compound AFG3L2(p.[M1V]; [R632X]（c.[1A>G];[1894.C>T]）), which were inherited from the father（c.1A>G, p.M1V） and mother（c.1894C>T, p.R632X）. Functional studies performed on hiPSCs（human induced pluripotent stem cells） generated from the patients and HEK293T cells showed that the mutations impair mitochondrial function and the unbalanced expression of AFG3L2 mRNA and protein levels. Furthermore, this novel mutation resulted in the degradation of the protein and the reduction of the stability of the AFG3L2 protein, and MCU（mitochondrial calcium uniporter） complex mediated Ca2+overload.

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Visualization of peripheral nerve regeneration

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Neural Regeneration Research 2014年第10期9卷 997-999页

作者： Ting-Chen Tseng Chen-Tung Yen Shan-hui Hsu Institute of Polymer Science and Engineering National Taiwan University department of Life Science National Taiwan University Research center for developmental Biology and regenerative medicine National Taiwan University

Peripheral nerve injuries are often caused by trauma and they may result in a partial or total loss of motor function or sensory perception. After nerve injuries, peripheral axons have the ability to regenerate and reconnect the proximal and distal ends of severed nerve axons if the nerve gap is small. For larger nerve gaps, surgical treatments are often required to repair the injured nerves.

关键词： cell SPIO MRI

Sinoatrial node pacemaker cells share dominant biological properties with glutamatergic neurons

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Protein & Cell 2021年第7期12卷 545-556页

作者： Dandan Liang Zhigang Xue Jinfeng Xue Duanyang Xie Ke Xiong Huixing Zhou Fulei Zhang Xuling Su Guanghua Wang Qicheng Zou Yi Liu Jian Yang Honghui Ma Luying Peng Chunyu Zeng Gang Li Li Wang Yi-Han Chen department of Cardiology East HospitalTongji University School of MedicineShanghai 200120China Key Laboratory of Arrhythmias of the Ministry of Education of China Tongji University School of MedicineShanghai 200120China Institute of Medical genetics Tongji UniversityShanghai 200092China department of regenerative medicine Tongji University School of MedicineShanghai 200092China Reproductive medicine center Tongji HospitalTongji University School of MedicineShanghai 200065China department of Pathology and Pathophysiology Tongji University School of MedicineShanghai 200092China department of Cardiology Daping HospitalChongqing 400042China department of Neurology East HospitalTongji University School of MedicineShanghai 200120China State Key Laboratory of Cardiovascular Disease Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China

Activation of the heart normally begins in the sinoatrial node(SAN).Electrical impulses spontaneously released by SAN pacemaker cells(SANPCs)trigger the contraction of the ***,the cellular nature of SANPCs remains ***,we report that SANPCs exhibit glutamatergic neuron-like *** comparing the single-cell transcriptome of SANPCs with that of cells from primary visual cortex in mouse,we found that SANPCs co-clustered with cortical *** and cellular imaging confirmed that SANPCs contained key elements of glutamatergic neurotransmitter system,expressing genes encoding glutamate synthesis pathway(G/s),ionotropic and metabotropic glutamate receptors(Grina,Gria3,Grm1 and Grm5)t and glutamate transporters(Slc17a7).SANPCs highly expressed cell markers of glutamatergic neurons(Snap25 and S/-c17a7)t whereas Gad1,a marker of GABAergic neurons,was *** studies revealed that inhibition of glutamate receptors or transporters reduced spontaneous pacing frequency of isolated SAN tissues and spontaneous Ca2+transients frequency in single ***,our work suggests that SANPCs share dominant biological properties with glutamatergic neurons,and the glutamatergic neurotransmitter system may act as an intrinsic regulation module of heart rhythm,which provides a potential intervention target for pacemaker cell-associated arrhythmias.

关键词： sinoatrial node pacemaker cell glutamatergic neuron single-cell RNA-seq electrophysiology

Novel heterozygous USH1C mutation impacts hair cell mechanotransduction and causes progressive hearing loss

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Science Bulletin 2024年第2期69卷 167-172页

作者： Yanyan Jia Gaogan Jia Luo Guo Nan Song Yu-Meng Wang Luoying Jiang Yilai Shu Yan Chen Shujia Zhu Huawei Li Wenyan Li ENT Institute and Otorhinolaryngology department of Eye&ENT Hospital State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain ScienceFudan UniversityShanghai 200031China Institutes of Biomedical Sciences Fudan UniversityShanghai 200032China NHC Key Laboratory of Hearing medicine(Fudan University) Shanghai 200031China The Institutes of Brain Science and the Collaborative Innovation center for Brain Science Fudan UniversityShanghai 200032China Shanghai center for Brain Science and Brain-Inspired Intelligence Technology Shanghai 201210China Institute of Neuroscience State Key Laboratory of NeuroscienceCAS Center for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai 200031China department of Cardiology and Institute for Developmental and Regenerative Cardiovascular MedicineXinhua Hospital Affiliated to Shanghai Jiaotong University School of MedicineShanghai 200092China

Hearing loss is one of the most common sensory disorders worldwide,affecting approximately 466 million people,including 34 million children[1].Genetic mutations accounts for approximately 60%of inherited hearing loss cases[2,3].These genetic changes result in a wide variety of clinical manifestations,ranging from nonsyndromic hearing loss(NSHL)to over 400 syndromes involving hearing loss and from mild adult-onset hearing loss to profound congenital deafness,covering the entire spectrum of Mendelian inheritance.

关键词： mec hearing approximate

A targetable pathway to eliminate TRA-1-60^(+)/TRA-1-81^(+)chemoresistant cancer cells

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Journal of Molecular Cell Biology 2023年第6期15卷 25-39页

作者： Lei Tan Xiaohua Duan Pratyusha Mutyala Ting Zhou Sadaf Amin Tuo Zhang Brian Herbst Gokce Askan Tomer Itkin Zhaoying Xiang Fabrizio Michelassi Michael D.Lieberman Christine AIacobuzio-Donahue Steven DLeach Todd Evans Shuibing Chen department of Surgery Weill Cornell MedicineNew YorkNY 10065USA center for Energy Metabolism and Reproduction Institute of Biomedicine and BiotechnologyShenzhen Institute of Advanced TechnologyChinese Academy of SciencesShenzhen 518055China center for Genomic Health Weill Cornell MedicineNew YorkNY 10065USA The SKI Stem Cell Research Facility The Center for Stem Cell Biology and Developmental Biology ProgramMemorial Sloan Kettering Cancer CenterNew YorkNY 10065USA Genomic Resource Core Facility Weill Cornell Medical CollegeNew YorkNY 10065USA Rubenstein center for Pancreatic Cancer Research Memorial Sloan Kettering Cancer CenterNew YorkNY 10065USA Division of regenerative medicine Hartman Institute for Therapeutic Organ RegenerationAnsary Stem Cell InstituteDepartment of MedicineWeill Cornell MedicineNew YorkNY 10065USA Dartmouth Cancer center Darmouth CollegeHanoverNH 03755USA

Chemoresistance is a primary cause of treatment failure in pancreatic *** cell surface markers specifically expressed in chemoresistant cancer cells(CCCs)could facilitate targeted therapies to overcome *** performed an antibody-based screen and found that TRA-1-60 and TRA-1-81,two‘stemness’cell surface markers,are highly enriched in ***-more,TRA-1-60^(+)/TRA-1-81^(+)cells are chemoresistant compared to TRA-1-60^(-)/TRA-1-81^(-)*** profiling identified UGT1A10,shown to be both necessary and sufficient to maintain TRA-1-60/TRA-1-81 expression and *** a high-content chemical screen,we identified Cymarin,which downregulates UGT1A10,eliminates TRA-1-60/TRA-1-81 expression,and increases chemosensitivity both in vitro and in ***,TRA-1-60/TRA-1-81 expression is highly specific in primary cancer tissue and positively correlated with chemoresistance and short survival,which highlights their potentiality for targeted ***,we discovered a novel CCC surface marker regulated by a pathway that promotes chemoresistance,as well as a leading drug candidate to target this pathway.

关键词： pancreatic cancer TRA-1-60/TRA-1-81 chemoresistance UGT1A10 Cymarin