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Breast Cancer Risk Genes-Association Analysis in More than 113,000 Women

四川生理科学杂志 2021年第1期43卷 7-7页

作者： Leila Dorling The authors' affiliations are as follows: the Centre for Cancer Genetic Epidemiology Departments of Public Health and Primary Care (L.D. S. Carvalho J.A. K.A.P. Q.W. M.K.B. J.D. B.D. N. Mavaddat K. Michailidou A.C.A. P.D.P.P. D.F.E.) and Oncology (C.L. P.A.H. C. Baynes D.M.C. L.F. V.R. M. Shah P.D.P.P. A.M.D. D.F.E.) University of Cambridge Cambridge the Centre for Genomic and Experimental Medicine MRC Institute of Genetics and Molecular Medicine (A. Campbell D.J.P.) and the Centre for Cognitive Ageing and Cognitive Epidemiology Department of Psychology (D.J.P.) University of Edinburgh the Cancer Research UK Edinburgh Centre (D.A.C. J.F.) and the Usher Institute of Population Health Sciences and Informatics University of Edinburgh Medical School (A. Campbell J.F.) Edinburgh the Divisions of Informatics Imaging and Data Sciences (E.F.H.) Cancer Sciences (A. Howell) Population Health Health Services Research and Primary Care (A. Lophatananon K. Muir) and Evolution and Genomic Sciences School of Biological Sciences (W.G.N. E.M.V. D.G.E.) University of Manchester the NIHR Manchester Biomedical Research Unit (E.F.H.) and the Nightingale Breast Screening Centre Wythenshawe Hospital (E.F.H. H.I.) Academic Health Science Centre and North West Genomics Laboratory Hub and the Manchester Centre for Genomic Medicine St. Mary's Hospital Manchester University NHS Foundation Trust (W.G.N. E.M.V. D.G.E.) Manchester the School of Cancer and Pharmaceutical Sciences Comprehensive Cancer Centre Guy's Campus King's College London London (E.J.S.) the Institute of Cancer and Genomic Sciences University of Birmingham Birmingham (I.T.) and the Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre University of Oxford Oxford (I.T.) - all in the United Kingdom the Human Genotyping-CEGEN Unit Human Cancer Genetic Program (A.G.-N. M.R.A. N.Á. B.H. R.N.-T.) and the Human Genetics Group (V.F. A.O. J.B.) Spanish National Cancer Research

Background:Genetic testing for breast cancer susceptibility is widely used,but for many genes,evidence of an association with breast cancer is weak,underlying risk estimates are imprecise,and reliable subtype-specific risk estimates are ***:We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 *** separate analyses for protein-truncating variants and rare missense variants in these genes,we estimated odds ratios for breast cancer overall and tumor *** evaluated missense-variant associations according to domain and classification of pathogenicity.

关键词： cancer Breast Cancer

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imaging and spatial omics of kidney injury:significance,challenges,advances and perspectives

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Medical Review 2023年第6期3卷 514-520页

作者： Zehua Li Yao Lu Li Yang Renal Division Peking University Institute of NephrologyPeking University First HospitalBeijingChina Key Laboratory of Renal Disease-Ministry of Health of China Key Laboratory of CKD Prevention and Treatment(Peking University)-Ministry of Education of ChinaPeking University First HospitalBeijingChina Research Units of Diagnosis and Treatment of Immune-mediated Kidney Diseases-Chinese Academy of Medical Sciences Peking University First HospitalBeijingChina Renal Division Peking University Institute of NephrologyPeking University First HospitalBeijing 100034China Key Laboratory of Renal Disease-Ministry of Health of China Key Laboratory of CKD Prevention and Treatment(Peking University)-Ministry of Education of ChinaPeking University First HospitalBeijing 100034China Research Units of Diagnosis and Treatment of Immunemediated Kidney Diseases-Chinese Academy of Medical Sciences Peking University First HospitalXishiku Street#8Beijing 100034China

The kidneys are susceptible to a range of insults that can cause damage to *** diagnosis,timely prevention,and proper treatment are crucial for improving the outcome of kidney ***,the complexity of renal structure and function makes it difficult to reach the demand of early detection and comprehensive evaluation of kidney *** successful drug therapy caused by the elaborate pathogenesis mechanism network of kidney injury calls for a systematical interpretation in mechanism *** advances in renal imaging and omics studies have provided novel views and deeper insights into kidney injury,but also raise challenges in reaching a comprehensive cellular and molecular atlas of kidney *** in imaging and omics of kidney injury are being made in various directions,with the initiative of construction a high-resolution structural atlas of kidney,dynamic and non-invasive evaluation of renal function,and systematic establishment of spatially resolved molecular atlas by transcriptomics and *** the limitations of a single modality,novel multimodal integration technologies of imaging and omics are being attempted to achieve a systematic description of nephropathy *** extensive efforts in renal multimodal imaging and omics studies are extremely required to deepen our understanding on kidney injury in the context of diagnostic,mechanistic and therapeutic perspectives.

关键词： kidney injury imaging omics multi-modalities Introduction

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A Transparent Ultrasound Array for Real-Time Optical,Ultrasound,and Photoacoustic imaging

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Biomedical Engineering Frontiers 2022年第1期3卷 284-297页

作者： Haoyang Chen Sumit Agrawal Mohamed Osman Josiah Minotto Shubham Mirg Jinyun Liu Ajay Dangi Quyen Tran Thomas Jackson Sri-Rajasekhar Kothapalli Department of Biomedical Engineering The Pennsylvania State UniversityUniversity ParkPA 16802USA School of Electrical Engineering and Computer Science The Pennsylvania State UniversityUniversity ParkPA 16802USA Penn State Cancer institute The Pennsylvania State UniversityHersheyPA 17033USA Graduate Program in Acoustics The Pennsylvania State UniversityUniversity ParkPA 16802USA

Objective and Impact *** imaging of ultrasound and optical contrasts can help map structural,functional,and molecular biomarkers inside living subjects with high spatial *** is a need to develop a platform to facilitate this multimodal imaging capability to improve diagnostic sensitivity and ***,combining ultrasound,photoacoustic,and optical imaging modalities is challenging because conventional ultrasound transducer arrays are optically *** a result,complex geometries are used to coalign both optical and ultrasound waves in the same field of *** elegant solution is to make the ultrasound transducer transparent to ***,we demonstrate a novel transparent ultrasound transducer(TUT)linear array fabricated using a transparent lithium niobate piezoelectric material for real-time multimodal *** TUT-array consists of 64 elements and centered at~6 MHz *** demonstrate a quad-mode ultrasound,Doppler ultrasound,photoacoustic,and fluorescence imaging in real-time using the TUT-array directly coupled to the tissue mimicking *** TUT-array successfully showed a multimodal imaging capability and has potential applications in diagnosing cancer,neurological,and vascular diseases,including image-guided endoscopy and wearable imaging.

关键词： Ultrasound specificity transparent

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Correlative optical photothermal infrared and X-ray fluorescence for chemical imaging of trace elements and relevant molecular structures directly in neurons

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Light(Science & Applications) 2021年第8期10卷 1536-1545页

作者： Nadja Gustavsson Agnes Paulus Isak Martinsson Anders Engdahl Kadda Medjoubi Konstantin Klementiev Andrea Somogyi Tomas Deierborg Ferenc Borondics Gunnar K Gouras Oxana Klementieva Medical Microspearoscopy Department of Experimental Medical ScienceLund University22180 LundSweden. Experimental Neuroinflammation Lab Department of Experimental Medical ScienceLund University22180 LundSweden. Experimental Dementia Research Department of Experimental Medical ScienceLund University22180 LundSweden. Synchrotron SOLEIL L'Orme des Merisiers91192 Gif Sur Yvette CedexFrance. MAX IV Laboratory 22100 LundSweden. Lund institute for advanced Neutron and X-ray Science(LINXS) 22370 LundSweden

Alzheimer's disease(AD)is the most common cause of dementia,costing about 1%of the global *** of clinical trials targeting amyloid-βprotein(Aβ),a key trigger of AD,have been explained by drug inefficiency regardless of the mechanisms of amyloid neurotoxicity,which are very difficult to address by available ***,we combine two imaging modalities that stand at opposite ends of the electromagnetic spectrum,and therefore,can be used as complementary tools to assess structural and chemical information directly in a single *** label-free super-resolution microspectroscopy for sub-cellular imaging based on novel optical photothermal infrared(O-PTIR)and synchrotron-based X-ray fluorescence(S-XRF)nano-imaging techniques,we capture elemental distribution and fibrillary forms of amyloid-βproteins in the same neurons at an unprecedented *** results reveal that in primary AD-like neurons,iron clusters co-localize with elevated amyloidβ-sheet structures and oxidized ***,our O-PTIR/S-XRF results motivate using high-resolution multimodal microspectroscopic approaches to understand the role of molecular structures and trace elements within a single neuronal cell.

关键词： elevated elements complementary

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Echographic imaging of tumoral cells through novel nanosystems for image diagnosis

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World Journal of Radiology 2014年第7期6卷 459-470页

作者： Marco Di Paola Fernanda Chiriacò Giulia Soloperto Francesco Conversano Sergio Casciaro Nanoimaging LAB and Bioengineering Division of the National Research Council Institute of Clinical Physiology Consiglio Nazionale delle Ricerche Istituto di Fisiologia Clinica (CNR-IFC) c/o Campus Ecotekne

Since the recognition of disease molecular basis,it has become clear that the keystone moments of medical practice,namely early diagnosis,appropriate therapeutic treatment and patient follow-up,must be approached at a molecular *** objectives will be in the near future more effectively achievable thanks to the impressive developments in nanotechnologies and their applications to the biomedical field,starting-up the nanomedicine *** continuous advances in the development of biocompatible smart nanomaterials,in particular,will be crucial in several aspects of *** fact,the possibility of manufacturing nanoparticle contrast agents that can be selectively targeted to specific pathological cells has extended molecular im-aging applications to non-ionizing techniques and,at the same time,has made reachable the perspective of combining highly accurate diagnoses and personalized therapies in a single theranostic *** developing applications of nanosized theranostic agents include targeted molecular imaging,controlled drug release,therapeutic monitoring,guidance of radiationbased treatments and surgical *** we will review the most recent findings in nanoparticles contrast agents and their applications in the field of cancer molecular imaging employing non-ionizing techniques and disease-specific contrast agents,with special focus on recent findings on those nanomaterials particularly promising for ultrasound molecular imaging and simultaneous treatment of cancer.

关键词： Ultrasound molecular imaging Nanoparticles contrast agents Nanomedicine Theranostics Early diagnosis multimodal medical imaging Cell targeting Drug delivery

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