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Preimplantation genetic testing for embryos predisposed to hereditary cancer:Possibilities and challenges

Cancer Pathogenesis and Therapy 2024年第1期2卷 1-14页

作者： Mohammed H.Albujja Maher Al-Ghedan Lakshmidevi Dakshnamoorthy Josep Pla Victori department of Forensic Sciences Naif Arab University for Security SciencesRiyadh 11452Saudi Arabia genetics Laboratory Thuriah Medical CenterRiyadh 11523Saudi Arabia department of genetic counselling VI-RMA GlobalValencia 46004Spain

Preimplantation genetic testing(PGT),which was developed as an alternative to prenatal genetic testing,allows couples to avoid pregnancies with abnormal chromosomes and the subsequent termination of the affected *** used for early onset monogenic conditions,PGT is now used to prevent various types of inherited cancer conditions based on the development of PGT technology,assisted reproductive techniques(ARTs),and in vitro fertilization(IVF).This review provides insights into the potential benefits and challenges associated with the application of PGT for hereditary cancer and provides an overview of the existing literature on this test,with a particular focus on the current challenges related to laws,ethics,counseling,and ***,this review predicts the future potential applications of this *** PGT may be utilized to predict and prevent hereditary cancer,each case should be comprehensively *** motives of couples must be assessed to prevent the misuse of this technique for eugenic purposes,and non-pathogenic phenotypes must be carefully *** cases that require this technology should also be carefully considered based on legal and ethical *** may be the preferred treatment for hereditary cancer cases;however,such cases require careful case-by-case ***,this study concludes that multidisciplinary counseling and support for patients and their families are essential to ensure that PGT is a viable option that meets all legal and ethical concerns.

关键词： Preimplantation genetic testing Hereditary cancer Late-onset diseases Ethics Legal restrictions

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Pathological and physiological functional cross-talks ofα-synuclein and tau in the central nervous system

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Neural Regeneration Research 2024年第4期19卷 855-862页

作者： Mingyue Jin Shengming Wang Xiaodie Gao Zhenyou Zou Shinji Hirotsune Liyuan Sun Guangxi Key Laboratory of Brain and Cognitive Neuroscience Guilin Medical University department of genetic Disease Research Osaka Metropolitan University Graduate School of Medicine department of Scientific Research Brain Hospital of Guangxi Zhuang Autonomous Region

α-Synuclein and tau are abundant multifunctional brain proteins that are mainly expressed in the presynaptic and axonal compartments of neurons,*** works have revealed that intracellular deposition ofα-synuclein and/or tau causes many neurodegenerative disorders,including Alzheimer’s disease and Parkinson’s *** intense investigation,the normal physiological functions and roles ofα-synuclein and tau are still unclear,owing to the fact that mice with knockout of either of these proteins do not present apparent ***,the co-occurrence ofα-synuclein and tau aggregates was found in post-mortem brains with synucleinopathies and tauopathies,some of which share similarities in clinical ***,the direct interaction ofα-synuclein with tau is considered to promote the fibrillization of each of the proteins in vitro and in *** the other hand,our recent findings have revealed thatα-synuclein and tau are cooperatively involved in brain development in a stage-dependent *** findings indicate strong cross-talk between the two proteins in physiology and *** this review,we provide a summary of the recent findings on the functional roles ofα-synuclein and tau in the physiological conditions and pathogenesis of neurodegenerative diseases.A deep understanding of the interplay betweenα-synuclein and tau in physiological and pathological conditions might provide novel targets for clinical diagnosis and therapeutic strategies to treat neurodegenerative diseases.

关键词： alpha-synuclein microtubule-associated protein neurodegenerative disease tau

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Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1532-1546页

作者： Jin Liu Si-Cong Zeng An Wang Hai-Ying Cheng Qian-Jun Zhang Guang-Xiu Lu Hunan Guangxiu Hospital Hunan Normal UniversityChangsha 410000Hunan ProvinceChina Scientific Research department Reproductive and Genetic Hospital of Citic-XiangyaChangsha 410000Hunan ProvinceChina

BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11(STK11/LKB1)gene *** genetic testing can protect a patient’s offspring from mutated genes;however,some variations in this gene have been interpreted as variants of uncertain significance(VUS),which complicate reproductive decision-making in genetic *** To identify the pathogenicity of two missense variants and provide clinical *** Whole exome gene sequencing and Sanger sequencing were performed on the peripheral blood of patients with PJS treated at the Reproductive and genetic Hospital of *** was employed to predict the protein structure,conservation,and pathogenicity of the two missense variation sites in patients with ***,plasmids were constructed and transfected into HeLa cells to observe cell *** differences in signal pathway expression between the variant group and the wild-type group were compared using western blot and *** analysis was performed using one-way analysis of variance.PG(***297Gly)and c.733C>T(***245Phe)]in 9 unrelated PJS families who were seeking reproductive *** two missense VUS were located in the catalytic domain of serine/threonine kinase,which is a key structure of the liver kinase B1(LKB1)*** vitro experiments showed that the phosphorylation levels of adenosine monophosphate-activated protein kinase(AMPK)at Thr172 and LKB1 at Ser428 were significantly higher in transfected variation-type cells than in wild-type *** addition,the two missense STK11 variants promoted the proliferation of HeLa *** immunohistochemical analysis showed that phosphorylated-AMPK(Thr172)expression was significantly lower in gastric,colonic,and uterine polyps from PJS patients with misse

关键词： Missense STK11 Peutz-Jeghers syndrome Rare disease genetic counseling Assisted reproductive technique

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A repertoire of intronic lariat RNAs reveals tissue-specific regulation and target mimicry potential in plants

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Science China(Life Sciences) 2024年第6期67卷 1280-1291页

作者： Yong Zhang Xiaotuo Zhang Qi Tang Lei Li Ting Jiang Yixiao Fang Hong Zhang Jixian Zhai Guodong Ren Binglian Zheng State Key Laboratory of genetic Engineering Institute of Plant BiologySchool of Life SciencesFudan UniversityShanghai 200438China department of Biology School of Life SciencesSouthern University of Science and TechnologyShenzhen 518055China

Lariat RNA is concomitantly produced by excised intron during RNA splicing,which is usually debranched by DBR1,an RNA debranching ***,increasing evidence showed that some lariat RNA could escape *** is known about how and why these lariat RNAs could be *** comparing the atlas of lariat RNAs between the non-dividing cell(mature pollen)and three actively dividing tissues(young shoot apex,young seeds,and young roots),we identified hundreds to thousands of lariat RNA naturally retained in each tissue,and the incidence of lariat RNA retention is much less in shoot apex while much more in *** lariat RNAs derived from the same intron or different lariat RNAs from the same pre-m RNA could be retained in one tissue while degraded in the other *** deciphering lariat RNA sequences,we identified an AG-rich(RAAAAVAAAR)motif and a UC-rich(UCUCUYUCUC)motif for pollen-specific and the other three tissues-retained lariat RNAs,*** of the pollen-specific AG-rich motif indeed enhanced lariat RNA retention in ***,hundreds of lariat RNAs harbored mi RNA binding sites,and dual-luciferase reporter assay showed that these natural lariat RNAs had the potential to protect expression of mi RNA target ***,our results uncover that selective retention of lariat RNA is an actively regulatory process,and provide new insights into understanding how lariat RNA metabolism may impact mi RNA activity.

关键词： intron turnover lariat RNA miRNA RNA splicing DBR1

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Long non-coding RNA H19 regulates neurogenesis of induced neural stem cells in a mouse model of closed head injury

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Neural Regeneration Research 2024年第4期19卷 872-880页

作者： Mou Gao Qin Dong Zhijun Yang Dan Zou Yajuan Han Zhanfeng Chen Ruxiang Xu department of Neurosurgery Sichuan Academy of Medical Sciences and Sichuan Provincial People's HospitalSchool of MedicineUniversity of Electronic Science and Technology of China department of Neurosurgery Chinese PLA General Hospital Zhongsai Stem Cell genetic Engineering Co. Ltd. department of Neurology Fu Xing HospitalCapital Medical University

Stem cell-based therapies have been proposed as a potential treatment for neural regeneration following closed head *** previously reported that induced neural stem cells exert beneficial effects on neural regeneration via cell ***,the neural regeneration efficiency of induced neural stem cells remains *** this study,we explored differentially expressed genes and long non-coding RNAs to clarify the mechanism underlying the neurogenesis of induced neural stem *** found that H19 was the most downregulated neurogenesis-associated lnc RNA in induced neural stem cells compared with induced pluripotent stem ***,we demonstrated that H19 levels in induced neural stem cells were markedly lower than those in induced pluripotent stem cells and were substantially higher than those in induced neural stem cell-derived *** predicted the target genes of H19 and discovered that H19 directly interacts with mi R-325-3p,which directly interacts with Ctbp2 in induced pluripotent stem cells and induced neural stem *** H19 or Ctbp2 impaired induced neural stem cell proliferation,and mi R-325-3p suppression restored the effect of H19 inhibition but not the effect of Ctbp2 ***,H19 silencing substantially promoted the neural differentiation of induced neural stem cells and did not induce apoptosis of induced neural stem ***,silencing H19 in induced neural stem cell grafts markedly accelerated the neurological recovery of closed head injury *** results reveal that H19 regulates the neurogenesis of induced neural stem cells.H19 inhibition may promote the neural differentiation of induced neural stem cells,which is closely associated with neurological recovery following closed head injury.

关键词： closed head injury Ctbp2 induced neural stem cell lncRNA H19 miR-325-3p neurogenesis

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Mindfulness Facets and Psychological Well-Being among Meditators:Serenity as a Mediating Process

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International Journal of Mental Health Promotion 2024年第3期26卷 177-187页

作者： Rebecca Y.M.Cheung Iris Yili Wang Elsa Ngar-Sze Lau School of Psychology and Clinical Language Sciences University of ReadingReadingUK department of Special Education and counselling The Education University of Hong KongHong KongChina department of Educational Administration and Policy The Chinese University of Hong KongHong KongChina

Guided by the theoretical processes of mindfulness and psychological well-being,this study examined serenity as a mediator between mindfulness facets and psychological well-being,as indexed by depressive symptoms and life *** were 133 mindfulness practitioners who took part in a 3-day transnational meditation event in Hong *** informed consent,participants completed a self-report *** findings from structural equation modeling showed that serenity mediated the relation between two facets of mindfulness,including describing and nonreacting to inner experience,and life *** also mediated the relation between the mindfulness facet of describing and depressive *** associations were indicated between two mindfulness facets,including observing and nonjudging of inner experience,and depressive *** together,the findings revealed mindfulness facets as major correlates of serenity and psychological outcomes among Chinese meditation *** foster psychological well-being,researchers,educators,and practitioners should pay attention to the role of serenity,describing,and nonreacting to inner experience in mental health.

关键词： Depressive symptoms mindfulness mindfulness practitioners satisfaction with life serenity

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Harnessing endothelial cells and vascularization strategies for nerve regeneration

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Neural Regeneration Research 2024年第11期19卷 2337-2338页

作者： Papon Muangsanit Poppy Smith Virology and Cell Technology Research Team National Center for Genetic Engineering and Biotechnology(BIOTEC)National Science and Technology Development Agency(NSTDA)PathumthaniThailand UCL Centre for Nerve Engineering UCLLondonUK department of Pharmacology UCL School of PharmacyUCLLondonUK

Peripheral nerves are essential components of the human body’s communication system,transmitting signals between the central nervous system and various body *** resulting from trauma or disease can result in debilitating sensory and motor *** injuries,particularly those resulting in significant gaps in the nerve tissue,pose a formidable challenge for clinicians and *** their limitations,including limited availability and donor site morbidity,nerve autografts remain the clinical gold standard for treating nerve injuries.

关键词： injuries nerves donor

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Molecular cloning,characterization and promoter analysis of LbgCWIN1 and its expression profiles in response to exogenous sucrose during in vitro bulblet initiation in lily

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Horticultural Plant Journal 2024年第2期10卷 545-555页

作者： Cong Gao Shiqi Li Yunchen Xu Yue Liu Yiping Xia Ziming Ren Yun Wu Genomics and genetic Engineering Laboratory of Ornamental Plants Institute of Landscape ArchitectureCollege of Agriculture and BiotechnologyZhejiang UniversityHangzhouZhejiang 310058China Laboratory of Flower Bulbs Department of Landscape ArchitectureSchool of Civil Engineering and ArchitectureZhejiang Sci-Tech UniversityHangzhouZhejiang 310018China

Lily(Lilium spp.) is an important ornamental flower, which is mainly propagated by bulbs. Cell wall invertases(CWINs), which catalyze the irreversibly conversion of sucrose into glucose and fructose in the extracellular space, are key enzymes participating in sucrose allocation in higher plants. Previous studies have shown that CWINs play an essential role in bulblet initiation process in bulbous crops, but the underlying molecular mechanism remains unclear. Here, a CWIN gene of Lilium brownii var. giganteum(Lbg) was identified and amplified from genomic DNA. Quantitative RT-PCR assays revealed that the expression level of LbgCWIN1 was highly upregulated exactly when the endogenous starch degraded in non-sucrose medium during in vitro bulblet initiation in Lbg. Phylogenetic relationship, motif, and domain analysis of LbgCWIN1 protein and CWINs in other plant species showed that all sequences of these CWIN proteins were highly conserved. The promoter sequence of LbgCWIN1 possessed a number of alpha-amylase-, phytohormone-, light-and stress-responsive cis-elements. Meanwhile, β-glucuronidase(GUS) assay showed that the 459 bp upstream fragment from the translational start site displayed maximal promoter activity. These results revealed that LbgCWIN1 might function in the process of in vitro bulblet initiation and be in the response to degradation of endogenous starch.

关键词： Lilium brownii var.giganteum LbgCWIN1 Phylogenetic analysis Promoter analysis Bulblet initiation

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Exercise-induced microbial changes in preventing type 2 diabetes

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Science China(Life Sciences) 2024年第5期67卷 892-899页

作者： Ting Yao Hui Wang Kaiqing Lin Ruwen Wang Shanshan Guo Peijie Chen Hao Wu Tiemin Liu Ru Wang School of Exercise and Health Shanghai Frontiers Science Research Base of Exercise and Metabolic HealthShanghai University of SportShanghai 200438China department of Physiology and Pathophysiology School of Basic Medical SciencesXi’an Jiaotong University School of MedicineXi’an 710061China Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism&Integrative BiologyFudan UniversityShanghai 200433China State Key Laboratory of genetic Engineering Human Phenome InstituteFudan Microbiome Centerand Department of Bariatric and Metabolic SurgeryHuashan HospitalFudan UniversityShanghai 201203China State Key Laboratory of genetic Engineering Department of Endocrinology and MetabolismHuman Phenome Instituteand School of Life SciencesZhongshan HospitalFudan UniversityShanghai 200032China

The metabolic benefits associated with long-term physical activity are well appreciated and growing evidence suggests that it involves the gut *** we re-evaluated the link between exercise-induced microbial changes and those associated with prediabetes and *** found that the relative abundances of substantial amounts of diabetes-associated metagenomic species associated negatively with physical fitness in a Chinese athlete students *** additionally showed that those microbial changes correlated more with handgrip strength,a simple but valuable biomarker suggestive of the diabetes states,than maximum oxygen intake,one of the key surrogates for endurance ***,the causal relationships among exercise,risks for diabetes,and gut microbiota were explored based on mediation *** propose that the protective roles of exercise against type 2 diabetes are mediated,at least partly,by the gut microbiota.

关键词： gut microbiota body fat diabetes handgrip maximum oxygen intake

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Identification of P-type plasma membrane H^(+)-ATPases in common wheat and characterization of TaHA7 associated with seed dormancy and germination

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Journal of Integrative Agriculture 2024年第7期23卷 2164-2177页

作者： Bingli Jiang Wei Gao Yating Jiang Shengnan Yan Jiajia Cao Litian Zhang Yue Zhang Jie Lu Chuanxi Ma Cheng Chang Haiping Zhang Key Laboratory of Wheat Biology and genetic Improvement on Southern Yellow&Huai River Valley Ministry of Agriculture and Rural Affairs/College of AgronomyAnhui Agricultural UniversityHefei 230036China

The P-type plasma membrane(PM)H^(+)-ATPases(HAs)are crucial for plant development,growth,and *** HAs have been thoroughly characterized in many different ***,despite their importance,the functions of HAs in germination and seed dormancy(SD)have not been validated in ***,we identified 28 TaHA genes(TaHA1-28)in common wheat,which were divided into five *** examination of gene expression in strong-and weak-SD wheat varieties led to the discovery of six candidate genes(TaHA7/-12/-14/-16/-18/-20).Based on a single nucleotide polymorphism(SNP)mutation(C/T)in the TaHA7 coding region,a CAPS marker(HA7)was developed and validated in 168 wheat varieties and 171 Chinese mini-core collections that exhibit diverse germination and SD *** further verified the roles of the two allelic variations of TaHA7 in germination and SD using wheat mutants mutagenized with ethyl methane sulphonate(EMS)in‘Jimai 22’and‘Jing 411’backgrounds,and in transgenic Arabidopsis ***7 appears to regulate germination and SD by mediating gibberellic acid(GA)and abscisic acid(ABA)signaling,metabolism,and *** results presented here will enable future research regarding the TaHAs in wheat.

关键词： wheat P-type plasma membrane H^(+)-ATPase seed dormancy abscisic acid gibberellin

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