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Innovative insights into extrachromosomal circular DNAs in gynecologic tumors and reproduction

Protein & Cell 2024年第1期15卷 6-20页

作者： Ning Wu Ling Wei Zhipeng Zhu Qiang Liu Kailong Li Fengbiao Mao Jie Qiao Xiaolu Zhao State Key Laboratory of Female Fertility Promotion Center for Reproductive MedicineDepartment of Obstetrics and GynecologyCenter for Reproductive MedicinePeking University Third HospitalBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction(Peking University) Ministry of EducationBeijing 100191China Beijing Key Laboratory of reproductive Endocrinology and Assisted reproductive Technology Beijing 100191China Institute of Medical Innovation and Research Peking University Third HospitalBeijing 100191China Cancer Center Peking University Third HospitalBeijing 100191China Department of Biochemistry and Biophysics Beijing Key Laboratory of Protein Posttranslational Modifications and Cell FunctionSchool of Basic Medical SciencesPeking University Health Science CenterBeijing 100191China Beijing Advanced Innovation Center for Genomics Beijing 100191China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100191China

Originating but free from chromosomal DNA,extrachromosomal circular DNAs(eccDNAs)are organized in circular form and have long been found in unicellular and multicellular *** biogenesis and function are poorly understood as they are characterized by sequence homology with linear DNA,for which few detection methods are *** advances in high-throughput sequencing technologies have revealed that eccDNAs play crucial roles in tumor formation,evolution,and drug resistance as well as aging,genomic diversity,and other biological processes,bringing it back to the research *** mechanisms of eccDNA formation have been proposed,including the breakage-fusion-bridge(BFB)and translocation-deletion-amplification *** tumors and disorders of embryonic and fetal development are major threats to human reproductive *** roles of eccDNAs in these pathological processes have been partially elucidated since the first discovery of eccDNA in pig sperm and the double minutes in ovarian cancer *** present review summarized the research history,biogenesis,and currently available detection and analytical methods for eccDNAs and clarified their functions in gynecologic tumors and *** also proposed the application of eccDNAs as drug targets and liquid biopsy markers for prenatal diagnosis and the early detection,prognosis,and treatment of gynecologic *** review lays theoretical foundations for future investigations into the complex regulatory networks of eccDNAs in vital physiological and pathological processes.

关键词： extrachromosomal circular DNAs gynecologic tumors reproduction liquid biopsy non-invasive prena-tal testing

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Corneal collagen cross-linking in patients with keratoconus from the Dresden protocol to customized solutions:theoretical basis

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International Journal of Ophthalmology(English edition) 2024年第5期17卷 951-962页

作者： Ciro Caruso Luca D’Andrea Mario Troisi Michele Rinaldi Raffaele Piscopo Salvatore Troisi Ciro Costagliola Corneal Transplant Center Pellegrini HospitalVia Portamedina alla Pignasecca 41Napoli 80127Italy Eye Clinic Department of NeurosciencesReproductive and Odontostomatological SciencesUniversity of Naples Federico IINaples 80131Italy Public Health Department University of Naples Federico IINaples 80131Italy Salerno Hospital University Ophthalmologic UnitBaronissiCampania 84131Italy

Keratoconus is an ectatic condition characterized by gradual corneal thinning,corneal protrusion,progressive irregular astigmatism,corneal fibrosis,and visual *** therapeutic options regarding improvement of visual function include glasses or soft contact lenses correction for initial stages,gas-permeable rigid contact lenses,scleral lenses,implantation of intrastromal corneal ring or corneal transplants for most advanced *** keratoconus cases showing disease progression corneal collagen crosslinking(CXL)has been proven to be an effective,minimally invasive and safe *** consists of a photochemical reaction of corneal collagen by riboflavin stimulation with ultraviolet A radiation,resulting in stromal crosslinks *** aim of this review is to carry out an examination of CXL methods based on theoretical basis and mathematical models,from the original Dresden protocol to the most recent developments in the technique,reporting the changes proposed in the last 15y and examining the advantages and disadvantages of the various treatment ***,the limits of non-standardized methods and the perspectives offered by a customization of the treatment are highlighted.

关键词： corneal collagen cross linking keratoconus custom fast protocol Dresden protocol lambert-beer law Bunsen-roscoe law

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Intraplaque injections of hyaluronic acid for the treatment of stable-phase Peyronie’s disease:a retrospective single-center experience

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Asian Journal of Andrology 2024年第3期26卷 268-271页

作者： Simone Cilio Roberto La Rocca Giuseppe Celentano Claudio Marino Massimiliano Creta Gianluigi Califano Celeste Manfredi Giorgio Ivan Russo Afonso Morgado Marco Falcone Marco Capece YAU Working Group Sexual and reproductive Health Department of Neurosciences Reproductive Sciences and OdontostomatologyUrology UnitUniversity of Naples“Federico II”Naples 80131Italy Urology unit Department of WomenChild and General and Specialized Surgery“Luigi Vanvitelli”UniversityNaples 80131Italy Urology Section Department of SurgeryUniversityof CataniaCatania 95131Italy Department of Urology Centro Hospitalar Universitário São JoãoPorto 4200-319Portugal Urology Clinic-A.O.U.“Cittàdella Salute edella Scienza”-Molinette Hospital University of TurinTurin 10100Italy 不详

Peyronie’s disease(PD)is a condition of penile connective tissue affecting up to 10%of men *** the complexity ofits management,nonsurgical treatments,such as intraplaque injections,are gaining *** current literature shows dataon the efficacy of intraplaque injections of hyaluronic acid(HA)mainly in acute-phase ***,data on injections of HA instable-phase PD are *** for this retrospective study were derived from a prospectively maintained database of privatepatients presenting at a private medical practice affiliated to the University of Naples“Federico II”(Naples,Italy)with stable-phasePD between January 2020 and March *** underwent a standard protocol of three injections,each administered at atwo-week *** the intervals,patients performed vacuum device therapy,penile stretching,and modeling *** compiled the Peyronie’s Disease Questionnaire(PDQ)and Global Assessment of Peyronie’s Disease(GAPD)at baselineand 2 weeks after the third injection.A penile Doppler ultrasound was performed 2 weeks after the last injection to record thefinal ***,we recruited 62 patients with stable-phase PD and a mean(±standard deviation[s.d.])curvature of52.7°(±9.7°).After 6 weeks,eight(12.9%)patients did not experience any curvature *** remaining 54 patientshad a final mean(±s.d.)curvature of 40.3°(±9.1°)with P<0.001,compared to that before *** found improvement inall PDQ domains(all P≤0.01),and 50(80.6%)patients reported subjective improvement of the penile curvature according to *** conclusion,we demonstrated that after three injections of HA administered according to the adopted protocol,patientswith stable-phase PD could experience significant improvements in penile curvature,and physical and psychological consequencesof the disease without significantly relevant side effects.

关键词： hyaluronic acid intraplaque injection Peyronie’s disease stable-phase therapy

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Comparative analysis of primate and pig cells reveals primate-specific PINK1 expression and phosphorylation

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Zoological Research 2024年第2期45卷 242-252页

作者： Xiu-Sheng Chen Rui Han Yan-Ting Liu Wei Huang Qi Wang Xin Xiong Ying Zhang Jian-Guo Zhao Shi-Hua Li Xiao-Jiang Li Wei-Li Yang Guangdong Key Laboratory of Non-human Primate Research Key Laboratory of CNS Regeneration(Ministry of Education)GHM Institute of CNS RegenerationJinan UniversityGuangzhouGuangdong 510632China State Key Laboratory of Stem Cell and reproductive biology Institute of ZoologyChinese Academy of SciencesBeijing 100101China Beijing Institute for Stem Cell and Regenerative Medicine Beijing 100101China University of Chinese Academy of Sciences Beijing 100049China

PTEN-induced putative kinase 1(PINK1),a mitochondrial kinase that phosphorylates Parkin and other proteins,plays a crucial role in mitophagy and protection against *** in PINK1 and Parkin can lead to loss of function and early onset Parkinson's ***,there is a lack of strong in vivo evidence in rodent models to support the theory that loss of PINK1 affects mitophagy and induces ***,PINK1 knockout pigs(Sus scrofa)do not appear to exhibit *** our recent work involving non-human primates,we found that PINK1 is selectively expressed in primate brains,while absent in rodent *** extend this to other species,we used multiple antibodies to examine the expression of PINK1 in pig *** contrast to tissues from cynomolgus monkeys(Macaca fascicularis),our data did not convincingly demonstrate detectable PINK1expression in pig *** of PINK1 in cultured pig cells did not result in altered Parkin and BAD phosphorylation,as observed in cultured monkey cells.A comparison of monkey and pig striatum revealed more PINK1-phosphorylated substrates in the monkey ***,PINK1 knockout in pigs did not lead to obvious changes in the phosphorylation of Parkin and *** findings provide new evidence that PINK1expression is specific to primates,underscoring the importance of non-human primates in investigating PINK1function and pathology related to PINK1 deficiency.

关键词： PINK1 Parkin Mitochondria Phosphorylation Non-human primates Pigs

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Sex differences in human pre-gastrulation embryos

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Science China Life Sciences 2024年

作者： Yongjie Lu Meng Qin Xintong Qi Ming Yang Fan Zhai Jiaqi Zhang Zhiqiang Yan Liying Yan Jie Qiao Peng Yuan State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital) Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education Beijing Key Laboratory of reproductive Endocrinology and Assisted reproductive Technology Academy for Advanced Interdisciplinary Studies Peking University

Human fetuses exhibit notable sex differences in growth rate and response to the intrauterine environment, yet their origins and underlying mechanisms remain uncertain. Here, we conduct a detailed investigation of sex differences in human pre-gastrulation embryos. The lower methylation and incomplete inactivation of the X chromosome in females, as well as the sex-specific cell-cell communication patterns,contribute to sex-differential transcription. Male trophectoderm is more inclined toward syncytiotrophoblast differentiation and exhibits a stronger hormone secretion capacity, while female trophectoderm tends to retain cytotrophoblast program with stronger mitochondrial function as well as higher vasculogenesis and immunotolerance signals. Male primitive endoderm initiates the anterior visceral endoderm transcriptional program earlier than females. The cell cycle activities of the epiblast and primitive endoderm are higher in males compared to females, while the situation is opposite in the trophectoderm. In conclusion, our study provides in-depth insights into the sex differences in human pre-gastrulation embryos and contributes to unraveling the origins of the sex differences in human fetal development.

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Effects and mechanisms of acupuncture on women related health

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Frontiers of Medicine 2024年第1期18卷 46-67页

作者： Huichao Qin Jiaxing Feng Xiaoke Wu Department of reproductive Medicine Heilongjiang Provincial HospitalHarbin Institute of TechnologyHarbin150036China Department of Obstetrics and Gynecology First Affiliated HospitalHeilongjiang University of Chinese MedicineHarbin150040China

Globally,public health interventions have resulted in a 30-year increase in women’s life ***,women’s health has not increased when socioeconomic status is ***’s health has become a major public health concern,for those women from developing countries are still struggling with infectious and labor-related diseases,and their counterparts in developed countries are suffering from physical and psychological *** recent years,complementary and alternative medicine has attracted wide attentions with regards to maintaining women’s ***,a crucial component of traditional Chinese medicine,has been used to treat many obstetric and gynecological diseases for thousands of years due to its analgesic and anti-inflammatory effects and its effects on stimulating the sympathetic/parasympathetic nervous *** fully understand the mechanism through which acupuncture exerts its effects in these diseases would significantly extend the list of available interventions and would allow for more reasonable advice to be given to general ***,by searching PubMed and CNKI regarding the use of acupuncture in treating obstetric and gynecological diseases,we aimed to summarize the proven evidence of using acupuncture in maintaining women’s health by considering both its effectiveness and the underlying mechanisms behind its effects.

关键词： acupuncture women health clinical efficacy mechanism

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Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella(MMAF)and ICSI outcomes

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Asian Journal of Andrology 2024年第1期26卷 91-98页

作者： Zhong-Mei Shao Yu-Tong Zhu Meng Gu Sen-Chao Guo Hui Yu Kuo-Kuo Li Dong-Dong Tang Yu-Ping Xu Ming-Rong Lv reproductive Medicine Center Department of Obstetrics and Gynecologythe First Affiliated Hospital of Anhui Medical UniversityHefei 230022China Department of Obstetrics and Gynecology Fuyang Hospital of Anhui Medical UniversityFuyang 236112China NHC Key Laboratory of Study on Abnormal Gametes and reproductive Tract(Anhui Medical University) Hefei 230032China Key Laboratory of Population Health Across Life Cycle(Anhui Medical University) Ministry of Education of the People'sRepublicof ChinaHefei 230032China

Variations in the dynein axonemal heavy chain gene,dynein axonemal heavy chain 6(DNAH6),lead to multiple morphological abnormalities of the *** studies have reported that these deficiencies may result in sperm head ***,whether DNAH6 is also involved in human acrosome biogenesis remains *** purpose of this study was to investigate DNAH6 gene variants and their potential functions in the formation of defective sperm heads and ***-exome sequencing was performed on a cohort of 375 patients with asthenoteratozoospermia from the First Affiliated Hospital of Anhui Medical University(Hefei,China).Hematoxylin and eosin staining,scanning electron microscopy,and transmission electron microscopy were performed to analyze the sperm morphology and *** staining and Western blot analysis were conducted to examine the effects of genetic *** identified three novel deleterious variants in DNAH6 among three unrelated *** absence of inner dynein arms and radial spokes was observed in the sperm of patients with DNAH6 ***,deficiencies in the acrosome,abnormal chromatin compaction,and vacuole-containing sperm heads were observed in these patients with DNAH6 *** decreased levels of the component proteins in these defective structures were further confirmed in sperm from patients with DNAH6 variants using Western *** intracytoplasmic sperm injection(ICSl)treatment,the partner of one patient with a DNAH6 variant achieved successful ***,novel variants in DNAH6 genes that contribute to defects in the sperm head and flagella were identified,and the findings indicated Icsl as an effective clinical treatment for such patients.

关键词： asthenoteratospermia DNAH6 intracytoplasmic sperm injection male infertility

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Correction of a CADASIL point mutation using adenine base editors in hiPsCsandbloodvessel organoids

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Journal of Genetics and Genomics 2024年第2期51卷 197-207页

作者： Jingwen Wang Lei Zhang Guanglan Wu Jinni Wu Xinyao Zhou Xiaolin Chen Yongxia Niu Yiren Jiao Qianyi Liu Puping Liang Guang Shi Xueqing Wu Junjiu Huang MOE Key Laboratory of Gene Function and Regulation State Key Laboratory of BiocontrolSchool of Life SciencesSun Yat-sen UniversityGuangzhouGuangdong 510275China Key Laboratory of reproductive Medicine of Guangdong Province The First Affiliated Hospital and School of Life SciencesSun Yat-sen UniversityGuangzhouGuangdong 510275China Center of reproductive Medicine Children's Hospital of Shanxi and Women Health Center of ShanxiTaiyuanShanxi 030013China

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic small vessel disease caused by mutations in the NOTCH3 gene. However, the pathogenesis of CADASIL remains unclear, and patients have limited treatment options. Here, we use human induced pluripotent stem cells (hiPSCs) generated from the peripheral blood mononuclear cells of a patient with CADASIL carrying a heterozygous NOTCH3 mutation (c.1261C>T, p.R421C) to develop a disease model. The correction efficiency of different adenine base editors (ABEs) is tested using the HEK293T-NOTCH3 reporter cell line. ABEmax is selected based on its higher efficiency and minimization of predicted off-target effects. Vascular smooth muscle cells (VSMCs) differentiated from CADASIL hiPSCs show NOTCH3 deposition and abnormal actin cytoskeleton structure, and the abnormalities are recovered in corrected hiPSC-derived VSMCs. Furthermore, CADASIL blood vessel organoids generated for in vivo modeling show altered expression of genes related to disease phenotypes, including the downregulation of cell adhesion, extracellular matrix organization, and vessel development. The dual adeno-associated virus (AAV) split-ABEmax system is applied to the genome editing of vascular organoids with an average editing efficiency of 8.82%. Collectively, we present potential genetic therapeutic strategies for patients with CADASIL using blood vessel organoids and the dual AAV split-ABEmax system.

关键词： CADASIL Induced pluripotent stem cells Adenine base editors AAV Blood vessel Organoid

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Detecting the distribution of and public attitudes to charismatic alien species based on media coverage

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Avian Research 2024年第3期15卷 379-384页

作者： Yuexuan Liu Ruichang Sun Bo Li Zhijun Ma Shanghai Institute of Infectious Disease and Biosecurity Ministry of Education Key Laboratory for Biodiversity Science and Ecological EngineeringNational Observations and Research Station for Wetland Ecosystems of the Yangtze Estuaryand Institute of Eco-Chongming(SIEC)School of Life SciencesFudan UniversityShanghai200433China Yunnan Key Laboratory of Plant reproductive Adaptation and Evolutionary Ecology and Centre for Invasion biology Institute of BiodiversitySchool of Ecology and Environmental ScienceYunnan UniversityKunming650504YunnanChina

Charismatic species are often reported by the media,providing information for detecting population status and public *** identify the number and distribution of free-living Black Swan(Cygnus atratus),a charismatic alien species in Chinese mainland and to detect the public and the media attitudes to the species,we analyzed the reports and emotional tendency from media coverage in 2000-2022 using manual reading,crawler extraction and latent Dirichlet allocation.A total of 6654 Black Swans were reported at 711 sites,including 147 individuals at 30 nature *** breeding was reported at one-fourth of the total sites,including five nature *** proportion of positive emotional tendency to Black Swans was overwhelming in the reports and was higher than that to alien species in general,suggesting that the public and the media are unaware of the risk of biological *** management of invasive species requires the media clarifies the invasion risk of charismatic alien *** the unity between the harmfulness of abstract concept of alien species and the charisma of a specific alien species among the public help effective management.

关键词： Alien species Biological invasion Cygnus atratus Emotional tendency Invasive species Media coverage Public perception

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Probiotic-derived exopolysaccharide protects against Staphylococcus aureus bloodstream infection in mice

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Food Science and Human Wellness 2024年

作者： Shouxin Sheng Pu Wang Ying Xu Yanchen Liang Chunhe Li Xuemei Bao Haochi Zhang Xiao Wang State Key Laboratory of reproductive Regulation & Breeding of Grassland Livestock， School of Life Science， Inner Mongolia University

Staphylococcus aureus (S. aureus) infection is a global public health problem， searching and developing green alternatives for antibiotics are urgently required. In this study， the exopolysaccharides (EPS) produced by Lactobacillus helveticus WXD191 were extracted and purified. Structure analysis suggested that the EPS contained Ara， Man， Gal， GalN， Glc， GlcN， and GlcA， and possessed a molecular of 84.2 kDa. Methylation combined with NMR spectroscopy analysis revealed that the backbone of EPS was →3)-β-D-Galp-(1→3)-β-D-GlcpNAc-(1→4)-β-D-GlcpA-(1→3- Man-1→2-Man-1→2，6-Man-1→2，6-Man-1→. Congo red analysis and CD spectrum indicated the existence of α-helices. Crystalline characteristics， scanning electron microscopy， and thermogravimetric analysis revealed that EPS formed thermally stable amorphous with a small amount of microcrystalline structure and a rough and porous surface. Meanwhile， The S. aureus bloodstream infection model was used to evaluate the protection efficiency for systemic infection induced by S. aureus and found that the EPS could enhance survival as well as reduce bacterial burden and proinflammatory chemokines. Collectively， these results suggest that EPS isolated from Lactobacillus helveticus was a competitive candidate for defense against S. aureus infection.

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