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Ca^(2+) binding to the C_(2)E domain of otoferlin is required for hair cell exocytosis and hearing

Protein & Cell 2024年第4期15卷 305-312页

作者： Han Chen Mehar Monga Qinghua Fang Loujin Slitin Jakob Neef Shashank S.Chepurwar Regina Célia Mingroni Netto Karina Lezirovitz Alfredo Tabith,Jr. Fritz Benseler Nils Brose Kathrin Kusch Carolin Wichmann Nicola Strenzke Barbara Vona Julia Preobraschenski Tobias Moser institute for Auditory Neuroscience and InnerEarLab University Medical Center Göttingen37075 GöttingenGermany Collaborative research Center 889 University of Göttingen37075 GöttingenGermany Auditory Neuroscience and Synaptic Nanophysiology Group Max Planck Institute for Multidisciplinary Sciences37075 GöttingenGermany Göttingen Graduate Center for Neurosciences Biophysics and Molecular BiosciencesUniversity of Göttingen37075 GöttingenGermany Biochemistry of Membrane Dynamics Group Institute for Auditory NeuroscienceUniversity Medical Center Göttingen37075 GöttingenGermany Molecular Architecture of Synapses Group Institute for Auditory Neuroscience and InnerEarLabUniversity Medical Center Göttingen37075 GöttingenGermany Center for Biostructural Imaging of Neurodegeneration University Medical Center Göttingen37075 GöttingenGermany Auditory Systems Physiology Group Institute for Auditory Neuroscience and InnerEarLabUniversity Medical Center Göttingen37075 GöttingenGermany Departamento de Genética e Biologia Evolutiva Centro de Pesquisas sobre o Genoma Humano e Células-TroncoInstituto de BiociênciasUniversidade de São PauloSão Paulo 05508-220Brazil Laboratório de Otorrinolaringologia/LIM32 Faculdade de MedicinaHospital das ClínicasUniversidade de São PauloSão PauloSP 05508-220Brazil DERDIC Pontifícia Universidade Católica de São PauloSão Paulo 05508-220Brazil Department of Molecular Neurobiology Max Planck Institute for Multidisciplinary Sciences37075 GöttingenGermany Multiscale Bioimaging Cluster of Excellence(MBExC) University of Göttingen37075 GöttingenGermany Functional Auditory Genomics Group Auditory Neuroscience and Optogenetics LaboratoryGerman Primate Center37077 GöttingenGermany Hearing Genomics Group Institute for Auditory Neuroscience and InnerEarLabUniversity Medical Center Göttingen37075 GöttingenGermany institute of Human genetics University Medical Center Göttingen37075 GöttingenGermany

Dear Editor,Afferent synapses of cochlear inner hair cells(IHCs)employ a unique molecular machinery(see extended background in Supplementary Materials).Otoferlin is a key player in this machinery and its defects cause human auditory synaptopathy(Moser and Starr,2016).Otoferlin,a tail-anchored(Vogl et al.,2016)multi-C_(2)-domain protein(Fig.1Ai)specific to hair cells(Roux et al.,2006),is a member of the ferlin protein family involved in membrane trafficking and repair that are of major disease relevance(Pangršičet al.,2012),also see Supplementary *** is distributed broadly within IHCs(Fig.2Ai-Aiii;Pangrsic et al.,2010;Roux et al.,2006).

关键词： auditory hair

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Pathologically successful conversion hepatectomy for advanced giant hepatocellular carcinoma after multidisciplinary therapy:A case report and review of literature

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1647-1659页

作者： Ju-Hang Chu Lu-Yao Huang Ya-Ru Wang Jun Li Shi-Long Han Hao Xi Wen-Xue Gao Ying-Yu Cui Ming-Ping Qian Department of General Surgery Shanghai Tenth People's HospitalSchool of MedicineTongji UniversityShanghai 200072China Department of Interventional and Vascular Surgery Shanghai Tenth People's HospitalSchool of MedicineTongji UniversityShanghai 200072China Department of Pathology Shanghai Tenth People's HospitalSchool of MedicineTongji UniversityShanghai 200072China Clinical research Management Office Shanghai Tenth People’s HospitalShanghai 200072China Department of Cell Biology Institute of Medical GeneticsState Key Laboratory of CardiologyTongji University School of MedicineShanghai 200331China

BACKGROUND Hepatocellular carcinoma(HCC)is one of the leading causes of death due to its complexity,heterogeneity,rapid metastasis and easy recurrence after surgical *** demonstrated that combination therapy with transcatheter arterial chemoembolization(TACE),hepatic arterial infusion chemotherapy(HAIC),Epclusa,Lenvatinib and Sintilimab is useful for patients with advanced *** SUMMARY A 69-year-old man who was infected with hepatitis C virus(HCV)30 years previously was admitted to the hospital with abdominal *** computed tomography(CT)revealed a low-density mass in the right lobe of the liver,with a volume of 12.9 cm×9.4 cm×15 cm,and the mass exhibited a“fast-in/fast-out”pattern,with extensive filling defect areas in the right branch of the portal vein and an alpha-fetoprotein level as high as 657 ng/***,he was judged to have advanced *** treatment,the patient received three months of Epclusa,three TACE treatments,two HAIC treatments,three courses of sintilimab,and twenty-one months of *** the third month of treatment,the patient developed severe side effects and had to stop immunotherapy,and the Lenvatinib dose had to be *** pathological diagnosis indicated a complete *** patient recovered well after the operation,and no tumor recurrence was *** multidisciplinary conversion therapy for advanced enormous HCC caused by HCV infection has a significant *** drug adjustments should be made during any treatment according to the patient's tolerance to treatment.

关键词： Hepatocellular therapy Conversion hepatectomy Interventional therapy Epclusa Lenvatinib Sintilimab Case report

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

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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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A mouse model of vitiligo based on endogenous auto-reactive CD8+T cell targeting skin melanocyte

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Cell Regeneration 2022年第1期11卷 316-332页

作者： Daoming Chen Zijian Xu Jun Cui Ting Chen National institute of Biological Sciences BeijingChina Tsinghua institute of multidisciplinary Biomedical research Tsinghua UniversityBeijingChina

Vitiligo is the most common human skin depigmenting *** is mediated by endogenous autoreactive CD8+T cells that destruct skin *** disease has an estimated prevalence of 1%of the global population and cur-rently has no *** models are indispensable tools for understanding vitiligo pathogenesis and for developing new ***,we describe a vitiligo mouse model which recapitulates key clinical features of vitiligo,including epidermis depigmentation,CD8+T cell infiltration in skin,and melanocyte *** activate endogenous autoreactive cytotoxic CD8+T cells targeting melanocytes,this model relies on transient inoculation of B16F10 melanoma cells and depletion of CD4+regulatory T *** cellular level,epidermal CD8+T cell infiltration and melanocyte loss start as early as Day 19 after *** apparent epidermis depigmentation occurs 2 months *** protocol can efficiently induce vitiligo in any C57BL/6 background mouse strain,using only commercially available *** enables researchers to carry out in-depth in vivo vitiligo studies utilizing mouse genetics tools,and provides a powerful platform for drug discovery.

关键词： Vitiligo Mouse model Activation Endogenous autoreactive cytotoxic CD8+T cells

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The ZFP541-KCTD19 complex is essential for pachytene progression by activating meiotic genes during mouse spermatogenesis

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Journal of genetics and Genomics 2022年第11期49卷 1029-1041页

作者： Yushan Li Ranran Meng Shanze Li Bowen Gu Xiaotong Xu Haihang Zhang Xinshui Tan Tianyu Shao Jiawen Wang Dan Xu Fengchao Wang The School of Public Health Xinxiang Medical UniversityXinxiangHenan 453003China College of Life Sciences Beijing Normal UniversityBeijing 100875China National institute of Biological Sciences Beijing Beijing 102206China Tsinghua institute of multidisciplinary Biomedical research Tsinghua UniversityBeijing 100084China

Meiosis is essential for fertility in sexually reproducing species and this sophisticated process has been extensively *** these efforts,key factors involved in meiosis have not been fully *** this study,we investigate the regulatory roles of zinc finger protein 541(ZFP541)and its interacting protein potassium channel tetramerization domain containing 19(KCTD19)in ***541 is expressed from leptotene to the round spermatid stage,while the expression of KCTD19 is initiated in *** of Zfp541 or Kctd19 leads to infertility in male mice and delays progression from early to mid/late *** addition,Zfp541^(-/-)spermatocytes show abnormal programmed DNA double-strand break repair,impaired crossover formation and resolution,and asynapsis of the XY ***541 interacts with KCTD19,histone deacetylase 1/2(HDAC1/2),and deoxynucleotidyl transferase terminal-interacting protein 1(DNTTIP1).Moreover,ZFP541 binds to and activates the expression of genes involved in meiosis and post-meiosis including Kctd19;in turn,KCTD19 promotes the transcriptional activation activity of *** together,our studies reveal that the ZFP541/KCTD19 signaling complex,acting as a key transcription regulator,plays an indispensable role in male fertility by regulating pachytene progression.

关键词： ZFP541 KCTD19 HDAC1 Pachytene progression Meiosis Male fertility

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Non-alcoholic fatty liver disease:a multidisciplinary clinical practice approach—the institutional adaptation to existing Clinical Practice Guidelines

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Emergency and Critical Care Medicine 2022年第1期2卷 12-22页

作者： Zoran Gluvic Ratko Tomasevic Ksenija Bojovic Milan Obradovic Esma R.Isenovic University Clinical-Hospital centre Zemun-Belgrade Clinic of Internal MedicineSchool of MedicineUniversity of BelgradeBelgradeSerbia Clinical centre of Serbia Clinic of Infectious and Tropical DiseasesSchool of MedicineUniversity of BelgradeBelgradeSerbia Department of Radiobiology and Molecular genetics “VINČA”Institute of Nuclear Sciences-National Institute of thеRepublic of SerbiaUniversity of BelgradeBelgradeSerbia

Non-alcoholic fatty liver disease(NAFLD)is among the most frequently encountered chronic liver diseases in everyday clinical *** is considered the hepatic manifestation of metabolic ***,liver biopsy is still the gold standard for NAFLD confirmation and assessing NAFLD’s possible progression to non-alcoholic steatohepatitis,fibrosis,cirrhosis,and hepatocellular *** of the high prevalence of NAFLD and potential associated risks of invasive diagnostic procedures,it is of great interest to recruit the patients for liver ***,as the presence of liver fibrosis determines the further clinical course,liver biopsy is expectedly reserved for those with increased fibrosis *** quality of liver biopsy recruitment and patient monitoring could be significantly improved by using non-invasive tools to assess liver fibrosis presence and interactive collaboration between general practitioners,gastroenterologists,and *** a result,the quality of liver biopsy recruitment and patients monitoring could be significantly ***,we proposed clinical practice guidelines that could be implemented for everyday clinical practice in NAFLD patients.

关键词： Diagnostics of NAFLD Fatty liver index Fibrosis score-4 Management of NAFLD Non-alcoholic fatty liver disease

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Major regulatory mechanisms involved in sperm motility

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Asian Journal of Andrology 2017年第1期19卷 5-14页

作者： Rute Pereira Rosalia Sa Alberto Barros Mario Sousa Department of Microscopy Laboratory of Cell Biology Institute of Biomedical Sciences Abel Salazar University of Porto (ICBAS-UP) Rua Jorge Viterbo Ferreira 2284050-313 Porto Portugal and Multidisciplinary Unit for Biomedical Research-UMIB ICBAS-UP centre for Reproductive genetics Alberto Barros Av. do Bessa 2401° Dto. Frente 4100-012 Porto Portugal Department of genetics Faculty of Medicine University of Porto. Alameda Prof. Hernani Monteiro 4200-319 Porto Portugal and Institute of Health Research an Innovation (13S) University of Porto Portugal.

The genetic bases and molecular mechanisms involved in the assembly and function of the flagellum components as well as in the regulation of the flagellar movement are not fully understood, especially in humans. There are several causes for sperm immotility, of which some can be avoided and corrected, whereas other are related to genetic defects and deserve full investigation to give a diagnosis to patients. This review was performed after an extensive literature search on the online databases PubMed, ScienceDirect, and Web of Science. Here, we review the involvement of regulatory pathways responsible for sperm motility, indicating possible causes for sperm immotility. These included the calcium pathway, the cAMP-dependent protein kinase pathway, the importance of kinases and phosphatases, the function of reactive oxygen species, and how the regulation of cell volume and osmolarity are also fundamental components. We then discuss main gene defects associated with specific morphological abnormalities. Finally, we slightly discuss some preventive and treatments approaches to avoid development of conditions that are associated with unspecified sperm immotility. We believe that in the near future, with the development of more powerful techniques, the genetic causes of sperm immotility and the regulatory mechanisms of sperm motility will be better understand, thus enabling to perform a full diagnosis and uncover new therapies.

关键词： antioxidants calcium membrane channels protein kinases sperm genetic abnormalities sperm motility

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Arabidopsis RPD3-like histone deacetylases form multiple complexes involved in stress response

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Journal of genetics and Genomics 2021年第5期48卷 369-383页

作者： Chao Feng Xue-Wei Cai Yin-Na Su Lin Li She Chen Xin-Jian He College of Life Sciences Beijing Normal UniversityBeijing 100875China National institute of Biological Sciences Beijing 102206China Tsinghua institute of multidisciplinary Biomedical research Tsinghua UniversityBeijing 10084China

The Arabidopsis thaliana RPD3-type histone deacetylases have been known to form conserved SIN3-type histone deacetylase complexes,but whether they form other types of complexes is ***,we perform affinity purification followed by mass spectrometry and demonstrate that the Arabidopsis RPD3-type histone deacetylases HDA6 and HDA19 interact with several previously uncharacterized proteins,thereby forming three types of plant-specific histone deacetylase complexes,which we named SANT,ESANT,and ***-seq indicates that the newly identified components function together with HDA6 and HDA19 and coregulate the expression of a number of ***6 and HDA19 were previously thought to repress gene transcription by histone *** find that the histone deacetylase complexes can repress gene expression via both histone deacetylation-dependent and-independent *** the mutants of histone deacetylase complexes,the expression of a number of stressinduced genes is up-regulated,and several mutants of the histone deacetylase complexes show severe retardation in *** that growth retardation is thought to be a trade-off for an increase in stress tolerance,we infer that the histone deacetylase complexes identified in this study prevent overexpression of stress-induced genes and thereby ensure normal growth of plants under nonstress conditions.

关键词： Histone deacetylase Complex Transcription Development Stress response HDA6 HDA19

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Wnt pathway inhibitors are upregulated in XLH dental pulp cells in response to odontogenic differentiation

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International Journal of Oral Science 2023年第1期15卷 127-135页

作者： Elizabeth Guirado Cassandra Villani Adrienn Petho Yinghua Chen Mark Maienschein-Cline Zhengdeng Lei Nina Los Anne George Department of Oral Biology University of Illinois ChicagoChicagoILUSA research Informatics Core University of Illinois at ChicagoChicagoILUSA Bioinformatics Scientist Ⅲ Ambry GeneticsAlisoCAUSA Genome research Core University of Illinois at ChicagoChicagoILUSA

X-linked hypophosphatemia(XLH)represents the most common form of familial *** significant advances have been made in the treatment of bone pathology,patients undergoing therapy continue to experience significantly decreased oral health-related quality of *** following study addresses this persistent oral disease by further investigating the effect of DMP1 expression on the differentiation of XLH dental pulp *** pulp cells were isolated from the third molars of XLH and healthy controls and stable transduction of full-length human DMP1 were *** sequencing was performed to evaluate the genetic changes following the induction of odontogenic *** data shows the upregulation of inhibitors of the canonical Wnt pathway in XLH cells,while constitutive expression of full-length DMP1 in XLH cells reversed this effect during odontogenic *** results imply that inhibition of the canonical Wnt pathway may contribute to the pathophysiology of XLH and suggest a new therapeutic strategy for the management of oral disease.

关键词： pulp pathology reversed

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Australian children living with rare diseases:health service use and barriers to accessing care

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World Journal of Pediatrics 2023年第7期19卷 701-709页

作者： Suzy Teutsch Yvonne Zurynski Guy DEslick Marie Deverell John Christodoulou Helen Leonard Troy Dalkeith Sandra LJJohnson Elizabeth JElliott Faculty of Medicine and Health Discipline of Child and Adolescent HealthThe University of SydneySydneyNSWAustraliaAustralian Australian Paediatric Surveillance Unit Kids ResearchSydney Children's Hospitals NetworkWestmeadNSWAustralia Australian institute of Health Innovation Center for Healthcare Resilience and Implementation Scienceand NHMRC Partnership Centre in Health System SustainabilityMacquarie UniversitySydneyNSWAustraliaFaculty of Medicine and HealthDiscipline of Child and Adolescent HealthThe University of SydneySydneyNSWAustralia Government Department of Health Western Australia PerthWAAustralia Murdoch Children's research institute and Victorian Clinical genetics Services Royal Children's HospitalParkvilleVICAustralia Department of Paediatrics The University of MelbourneParkvilleVICAustralia Telethon Kids institute The University of Western AustraliaNedlandsWAAustralia Genetic Metabolic Disorders Service Sydney Children's Hospitals NetworkWestmeadNSWAustralia

Background Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary *** aimed to determine health service utilization by Australian children with rare diseases and barriers to access-ing *** Parents completed an online survey on health professional and emergency department(ED)presentations,hospi-talization,and barriers to accessing *** barriers to service access included residential location(city,regional,remote)and child health-related functioning,determined using a validated,parent-completed measure-of-function *** Parents of 462 children with over 240 rare diseases completed the *** with the general population,these children were more likely to be hospitalized[odds ratio(OR)=17.25,95%confidence interval(CI)=15.50-19.20]and present to the ED(OR=4.15,95%CI=3.68-4.68)or a family physician(OR=4.14,95%CI=3.72-4.60).Child functional impairment was nil/mild(31%),moderate(48%)or severe(22%).Compared to children with nil/mild impair-ment,those with severe impairment were more likely to be hospitalized(OR=13.39,95%CI=7.65-23.44)and present to the ED(OR=11.16,95%CI=6.46-19.27).Most children(75%)lived in major cities,but children from regional(OR=2.78,95%CI=1.72-4.55)and remote areas(OR=9.09,95%CI=3.03-25.00)experienced significantly more barriers to healthcare access than children from major *** included distance to travel,out-of-pocket costs,and lack of specialist medical and other health *** Children with rare diseases,especially those with severe functional impairment have an enormous impact on health services,and better integrated multidisciplinary services with patient-centered care are *** must be improved for children living in rural and remote settings.

关键词： Access Health functioning Health service use Rare diseases

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