Academic literature on the topic 'Genetic characterization, proteomics'

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Journal articles on the topic "Genetic characterization, proteomics"

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Yihunie, Fanuel Bizuayehu, Mequanint Addisu Belete, Gizachew Fentahun, Solomon Getachew, and Teshager Dubie. "Diagnostic and Therapeutic Application of Proteomics in Infectious Disease." Advances in Cell and Gene Therapy 2023 (August 24, 2023): 1–6. http://dx.doi.org/10.1155/2023/5510791.

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The study of an organism’s genome, often known as “genomics,” has advanced quickly, producing a wealth of publicly accessible genetic data. Despite how valuable the genome is; proteins essentially control most aspects of cell function. Proteomics, or the comprehensive study of proteins, has emerged as an important technology for disease characterization, diagnosis, prognosis, drug development, and therapy. Proteomics technologies are now used to support the diagnosis and treatment of both infectious and noninfectious diseases. Nevertheless, it is more difficult to describe a proteomic profile
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Van Damme, Petra, Joel Vandekerckhove, and Kris Gevaert. "Disentanglement of protease substrate repertoires." Biological Chemistry 389, no. 4 (2008): 371–81. http://dx.doi.org/10.1515/bc.2008.043.

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Abstract Identification of protease substrates and detailed characterization of processed sites are essential for understanding the biological function of proteases. Because of inherent complexity reasons, this however remains a formidable analytical challenge, illustrated by the fact that the majority of the more than 500 human proteases are uncharacterized to date. Recently, in addition to conventional genetic and biochemical approaches, diverse quantitative peptide-centric proteomics approaches, some of which selectively recover N-terminal peptides, have emerged. These latter proteomic tech
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Agregán, Rubén, Noemí Echegaray, María López-Pedrouso, Radwan Kharabsheh, Daniel Franco, and José M. Lorenzo. "Proteomic Advances in Milk and Dairy Products." Molecules 26, no. 13 (2021): 3832. http://dx.doi.org/10.3390/molecules26133832.

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Proteomics is a new area of study that in recent decades has provided great advances in the field of medicine. However, its enormous potential for the study of proteomes makes it also applicable to other areas of science. Milk is a highly heterogeneous and complex fluid, where there are numerous genetic variants and isoforms with post-translational modifications (PTMs). Due to the vast number of proteins and peptides existing in its matrix, proteomics is presented as a powerful tool for the characterization of milk samples and their products. The technology developed to date for the separation
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Chantada-Vázquez, Maria del Pilar, Susana B. Bravo, Sofía Barbosa-Gouveia, José V. Alvarez, and María L. Couce. "Proteomics in Inherited Metabolic Disorders." International Journal of Molecular Sciences 23, no. 23 (2022): 14744. http://dx.doi.org/10.3390/ijms232314744.

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Inherited metabolic disorders (IMD) are rare medical conditions caused by genetic defects that interfere with the body’s metabolism. The clinical phenotype is highly variable and can present at any age, although it more often manifests in childhood. The number of treatable IMDs has increased in recent years, making early diagnosis and a better understanding of the natural history of the disease more important than ever. In this review, we discuss the main challenges faced in applying proteomics to the study of IMDs, and the key advances achieved in this field using tandem mass spectrometry (MS
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Arauz-Garofalo, Gianluca, Meritxell Jodar, Mar Vilanova, et al. "Protamine Characterization by Top-Down Proteomics: Boosting Proteoform Identification with DBSCAN." Proteomes 9, no. 2 (2021): 21. http://dx.doi.org/10.3390/proteomes9020021.

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Protamines replace histones as the main nuclear protein in the sperm cells of many species and play a crucial role in compacting the paternal genome. Human spermatozoa contain protamine 1 (P1) and the family of protamine 2 (P2) proteins. Alterations in protamine PTMs or the P1/P2 ratio may be associated with male infertility. Top-down proteomics enables large-scale analysis of intact proteoforms derived from alternative splicing, missense or nonsense genetic variants or PTMs. In contrast to current gold standard techniques, top-down proteomics permits a more in-depth analysis of protamine PTMs
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Sun, Claire, Paul Daniel, Nicole Chew, et al. "BIOL-01. GENERATION AND MULTI-OMICS CHARACTERIZATION OF 203 PEDIATRIC CNS TUMOUR MODELS REVEALS NEW THERAPEUTIC VULNERABILITIES." Neuro-Oncology 25, Supplement_1 (2023): i5—i6. http://dx.doi.org/10.1093/neuonc/noad073.020.

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Abstract Pediatric Central Nervous System (CNS) tumors are the leading cause of cancer-related death among children. Identifying new targeted therapies necessitates the use of pediatric cancer models that faithfully recapitulate the patient’s disease. However, the generation and characterization of pediatric cancer models has significantly lagged adult cancers, underscoring the urgent need to develop and characterize pediatric CNS models of disease. Herein, we establish a single-site collection of 233 CNS tumour cell lines, representing 14 distinct brain childhood tumor types. We subjected &am
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Stamatakos, Panagiotis Velissarios, Charalampos Fragkoulis, Ieronymos Zoidakis, Konstantinos Ntoumas, and Athanasios Dellis. "Urinary Bladder Microbiome Identification Protocol with Proteomics in Bladder Cancer Patients and Review of the Literature." Hellenic Urology 33, no. 4 (2021): 111–15. http://dx.doi.org/10.4103/huaj.huaj_3_23.

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Abstract Urine was conventionally thought to be sterile. However, recent evidence about the presence of microorganisms residing the urinary tract has led to an emerging field of investigation about the potential role of urinary microbiome in the pathogenesis of urinary bladder cancer. Urinary microbiota refers to the different microbe populations present in the urinary tract while a variety of genetic, environmental, and experimental parameters have been investigated as predisposing factors of microbial composition. Different methods of urine collection as well as experimental methodology on m
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Wang, Juanjuan, Simone Maarup, Vincent Fougner, et al. "Abstract 1883: Large-scale proteomic analysis of glioblastoma tissues reveals novel molecular insights and potential therapeutic targets." Cancer Research 85, no. 8_Supplement_1 (2025): 1883. https://doi.org/10.1158/1538-7445.am2025-1883.

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Abstract Introduction: Glioblastoma (GBM), classified as WHO grade 4, is a highly aggressive and incurable brain tumor with limited treatment options. Standard treatment consists of maximum safe surgery followed by concurrent chemo/radiation and adjuvant chemotherapy, the Stupp protocol. Despite extensive molecular characterization through DNA sequencing and RNA expression studies, the complex heterogeneity of GBM has yet to translate into improved standard treatments. A key challenge lies in predicting the impact of genetic and transcriptomic alterations at the protein level. Aim: To identify
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Gajadhar, Aaron S., Margaret K. Donovan, Harsharn Auluck, et al. "Abstract 6348: A cloud-scalable software suite for large-cohort proteogenomics data analysis and visualization." Cancer Research 82, no. 12_Supplement (2022): 6348. http://dx.doi.org/10.1158/1538-7445.am2022-6348.

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Abstract Comprehensive assessment of the flow of genetic information through multi-omic data integration can reveal the molecular consequences of genetic variation underlying human disease. Next generation sequencing (NGS) is used to identify genetic variants and characterize gene function (e.g. transcriptome and epigenome), while mass spectrometry is used to assess the proteome through characterization of protein abundances, modifications, and interactions. A new plasma profiling platform, the Proteograph࣪ Product Suite, leverages multiple nanoparticles with distinct physiochemical properties
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Di Narzo, Antonio F., Shannon E. Telesco, Carrie Brodmerkel, et al. "High-Throughput Characterization of Blood Serum Proteomics of IBD Patients with Respect to Aging and Genetic Factors." PLOS Genetics 13, no. 1 (2017): e1006565. http://dx.doi.org/10.1371/journal.pgen.1006565.

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Dissertations / Theses on the topic "Genetic characterization, proteomics"

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Ho, Sze-yuen. "Genetic, lipidic and proteomic characterization of an arachidonic acid producing fungus, Mortierella alpina." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/B41290926.

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Ho, Sze-yuen, and 何思遠. "Genetic, lipidic and proteomic characterization of an arachidonic acidproducing fungus, Mortierella alpina." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41290926.

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Woo, Andrew Jonghan. "Characterization and identification of transcription factors that bind to the tumor necrosis factor -308 polymorphism." University of Western Australia. School of Biomedical and Chemical Sciences, 2003. http://theses.library.uwa.edu.au/adt-WU2004.0044.

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[Formulae and special characters can only be approximated. Please see the pdf version of this abstract for an accurate reproduction.] Tumor necrosis factor (TNF) is a pleiotropic cytokine that mediates a long list of immunological and pathophysiological processes. TNF is produced by a wide variety of cells including immune and non-immune cells, however in most cell types TNF is not expressed prior to stimulation. The function of TNF is mediated via its trimeric domain by binding to TNF receptors that are found on most types of cells, especially of the haematopoietic systems, hence transpiring
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Eshraghi, Mehdi. "Characterization of Synaptic Alterations and the Effect of Genetic Background in a Mouse Model of Spinal Muscular Atrophy." Thesis, Université d'Ottawa / University of Ottawa, 2017. http://hdl.handle.net/10393/36466.

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Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle weakness and atrophy and death of motor neurons in humans. Although almost all cases of SMA occur due to mutations in a gene called survival motor neuron 1 (SMN1), SMA patients present with a wide range of severities of the symptoms. The most severe cases never achieve any developmental motor milestone and die within a few years after birth. On the other hand, mild cases of SMA have a normal life span and show trivial motor deficits. This suggests the role of other factors (rather than the function of SMN1) in the outc
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Gunnaiah, Raghavendra. "Functional characterization of wheat, fusarium head blight resistance (QTL) «Fhb1» based on non-target metabolomics and proteomics." Thesis, McGill University, 2013. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=119639.

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Fusarium head blight (FHB) caused by Fusarium graminearum is a dreadful disease of wheat (Triticum aestivum L.). Host resistance to FHB in wheat is quantitatively inherited. Though more than 100 QTLs have been identified, only a few have been validated. However, the resistance mechanisms governed by these QTLs are poorly understood. A type II FHB resistance QTL Fhb1 is the most consistent and largest effect QTL in wheat against FHB spread in wheat. Non-targeted metabolic and proteomic profiling of wheat near isogenic lines (NILs) with resistant and susceptible Fhb1 alleles was used to function
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Zhu, Fuyuan, and 朱福远. "Functional characterization of a sorghum simple extracellular leucine-rich repeat protein and proteomic investigations of lead response in Arabidopsis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/196021.

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A sorghum gene SbLRR2, which is predicted to encode a simple extracellular leucine-rich repeat (LRR) protein, was previously isolated among a collection of fungal pathogen-induced sorghum cDNA clones generated by suppression subtractive hybridization. Phylogenetic analysis revealed that they are distinct from the simple extracellular LRR proteins reported previously. Subcellular localization analysis demonstrated that the SbLRR2-EYFP fusion protein was targeted to the extracellular space in tobacco leaf cells. Peptide N-Glycosidase F treatment revealed that the SbLRR2 is N-glycosylated with no
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Ananthapadmanabhan, Varsha. "UNDERSTANDING THE FUNCTION OF DYRK1A THROUGH CHARACTERIZATION OF ITS INTERACTING PROTEINS." VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/3719.

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DYRK1A is a protein kinase encoded by a gene implicated in Down syndrome pathogenesis. Loss of DYRK1A could promote oncogenic transformation. However, the regulation and substrates of DYRK1A are not fully understood. MudPIT proteomic analysis revealed novel DYRK1A interacting proteins with poorly characterized or even unknown functions. Therefore, the aim of this thesis was to understand the function of DYRK1A through the characterization of its interacting proteins. To achieve this aim, we established stable cell lines expressing these proteins and confirmed the interactions between DYRK1A an
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Saulia, Emmrick André. "Cyanobactéries diazotrophes du Pacifique Sud : variabilité saisonnière, caractérisation morpho-génétique/chimique et potentiel de valorisation." Electronic Thesis or Diss., Nouvelle Calédonie, 2019. http://www.theses.fr/2019NCAL0003.

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L'Océan Pacifique sud-ouest et les eaux de la Nouvelle-Calédonie sont caractérisés par de fortes abondances en cyanobactéries. Parmi ces cyanobactéries, certaines ont la capacité de fixer l'azote atmosphérique (N2), et sont appelées cyanobactéries diazotrophes. Ces organismes sont connus pour contenir en proportions variables des métabolites et nutriments à haute valeur ajoutée qui leur confèrent un potentiel de valorisation économique possiblement intéressants pour la Nouvelle-Calédonie. Plusieurs de ces cyanobactéries ont été isolées en culture depuis les eaux côtières et hauturières du Paci
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Books on the topic "Genetic characterization, proteomics"

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Smith, Richard D., and Timothy D. Veenstra. Proteome Characterization and Proteomics. Elsevier Science & Technology Books, 2003.

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(Editor), Timothy D. Veenstra, and Richard D. Smith (Editor), eds. Proteome Characterization and Proteomics (Advances in Protein Chemistry, Volume 65) (Advances in Protein Chemistry). Academic Press, 2003.

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Book chapters on the topic "Genetic characterization, proteomics"

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Natale, D. R., and A. J. Watson. "Characterization of Novel Genes during Early Development by Application of Differential Display RT-PCR." In A Laboratory Guide To The Mammalian Embryo. Oxford University PressNew York, NY, 2004. http://dx.doi.org/10.1093/oso/9780195142266.003.0015.

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Abstract The introduction and development of genomics and proteomics during the past decade have significantly changed the way in which biomedical, agricultural, and biological research is conducted. Genomics and proteomics, which represent the identification and sequencing of genes and the systematic analysis and documentation of proteins in a biological sample, have been recently combined to give rise to functional genomics. Functional genomics encompasses assigning function to genes identified by genomics as well as investigating the organization and control of genetic pathways and the modi
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Shaikh, Zuber Peermohammed. "Nanoproteomics in Clinical Application in Different Diseases." In Innovations in Precision Medicine and Genomics. IGI Global, 2025. https://doi.org/10.4018/979-8-3693-5787-3.ch009.

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Proteomics by definition is the systematic identification and characterization of protein sequence, abundance, post-translational modifications, interactions, activity, subcellular localization, and structure in given cell type at particular time point. Protein profiles at both physiological/pathophysiological processes characterize the information flow in cell, tissue, or organism. Proteomics studies utilize several available techniques for the identification, validation, quantification, and expression of certain protein(s). Such techniques are highly sensitive achieving targeted proteins ana
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Ali, Azamat. "Personalized Medicine." In Innovations in Precision Medicine and Genomics. IGI Global, 2025. https://doi.org/10.4018/979-8-3693-5787-3.ch004.

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Personalized medicine, utilizing biotechnological advancements, tailors medical treatments for individual patients. This chapter examines its role in healthcare, emphasizing its ability to enhance delivery. By integrating genomics, metabolomics, and proteomics, it enables precise disease characterization and treatment response prediction. Advanced bioinformatics and machine learning analyze omics data to identify biomarkers for diagnosis, prognosis, and treatment selection. Pharmacogenomics optimizes drug efficacy and minimizes adverse reactions by considering genetic variations. CRISPR-based
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Hassan, Muhammad Jawad, Muhammad Faheem, and Sabba Mehmood. "Emerging OMICS and Genetic Disease." In Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics. BENTHAM SCIENCE PUBLISHERS, 2022. http://dx.doi.org/10.2174/9789815079517122010010.

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Multiomics also described as integrative omics is an analytical approach that combines data from multiple ‘omics’ approaches including genomics, transcriptomics, proteomics, metabolomics, epigenomics, metagenomics and Meta transcriptomics to answer the complex biological processes involved in rare genetic disorders. This omics approach is particularly helpful since it identifies biomarkers of disease progression and treatment progress by collective characterization and quantification of pools of biological molecules within and among the various types of cells to better understand and categoriz
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Balkrishna, Acharya, Usman Umar Zango, Saima Kauser Nasir, and Vedpriya Arya. "A Clinical Cognizance of Molecular and Pathological Diagnostic Approach of TNBC." In Therapeutic Drug Targets and Phytomedicine For Triple Negative Breast Cancer. BENTHAM SCIENCE PUBLISHERS, 2023. http://dx.doi.org/10.2174/9789815079784123010005.

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Genetic, transcriptional, and clinical heterogeneity of disease has remained to be a prominent obstacle to the development of a targeted therapeutic approach against TNBC. So far, based on tumor size, lymph node status, and histologic features TNBC subtypes were stratified. Insights into inter and intratumoral heterogeneity of TNBC were gained by next-generation sequencing, genomic, transcriptomic, proteomic, and clinicopathological characterization. To depict tumor response to neoadjuvant chemotherapy, radiological characterization may also a play significant role. Biomarkers for subtyping TN
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Söylemez, Evrim Suna Arıkan, and Zafer Söylemez. "Transkriptomik ve Uygulamaları." In Moleküler Biyoloji ve Genetik. Türkiye Bilimler Akademisi, 2023. http://dx.doi.org/10.53478/tuba.978-625-8352-48-1.ch11.

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In recent years, an explosion has occurred in the acquisition of biological data through the use of so-called ‘omics’ techniques. Whilst many different omics technologies are now featured in the literature, the most frequently used omics are genomics, transcriptomics, proteomics and metabolomics. A transcriptome is the complete set and quantity of all RNA molecules produced by the genome at any given time for a particular developmental stage or physiological state in a cell, a population of cells, or an organism. Transcriptomics is regarded as a highthroughput technology concerned with determi
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Satpathy, Raghunath. "Next-Generation Sequencing Techniques and Applications in Virology Research." In Innovations in Precision Medicine and Genomics. IGI Global, 2025. https://doi.org/10.4018/979-8-3693-5787-3.ch002.

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Next-generation sequencing (NGS) techniques offer unprecedented capabilities for genome sequencing, in case of pathogens to analyse diversity, epidemiological surveillance, and so on. Moreover, NGS-based transcriptomic and proteomic analyses enable the study of host immune responses to pathogenic infection, elucidation of virulence factors, and characterization of host-pathogen interactions. The workflow of NGS techniques involves sample preparation, library preparation, sequencing, and data analysis. Extracted nucleic acids are fragmented, ligated with adapters, and sequenced on NGS platforms
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Jaiswal, Dinesh Kumar, and Nandula Raghuram. "Molecular interventions for improving crop nitrogen use efficiency: trends, opportunities and challenges in rice." In Improving nitrogen use efficiency in crop production. Burleigh Dodds Science Publishing, 2024. http://dx.doi.org/10.19103/as.2024.0135.06.

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Crop improvement for nitrogen (N) use efficiency (NUE) has been complicated by too many definitions for NUE, different forms of N inputs and different harvested outputs, apart from the large number of genes and processes involved. The recent characterization of the NUE phenotype in rice and the availability of N-responsive transcriptomic and proteomic datasets have enabled systematic identification and shortlisting of genetic and epigenetic targets for crop improvement. Transgenic validation of several candidate genes is in progress, including by genome editing. Further, genome-wide associatio
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Haque, S. S., Ravi Bhushan Raman, and Mehboobus Salam. "Role of Biomarkers in Hepatocellular Carcinoma and Their Disease Progression." In Liver Cancer - Genesis, Progression and Metastasis [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.105856.

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Hepatocellular carcinoma (HCC) is one of the third leading and common lethal cancers worldwide. Early detection of tumorigenesis of hepatocellular carcinoma is through ultrasonography, computerized tomography (CT) scans, and magnetic resonance imaging (MRI) scans; however, these methods are not up to the mark, so a search for an efficient biomarker for early diagnosis and treatment of hepatocarcinogenesis is important. Proteomic and genomic approaches aid to develop new promising biomarkers for the diagnosis of HCC at the early stages. These biomarkers not only help in prognosis but also provi
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Reports on the topic "Genetic characterization, proteomics"

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Ginzberg, Idit, and Walter De Jong. Molecular genetic and anatomical characterization of potato tuber skin appearance. United States Department of Agriculture, 2008. http://dx.doi.org/10.32747/2008.7587733.bard.

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Potato (Solanum tuberosum L.) skin is composed of suberized phellem cells, the outer component of the tuber periderm. The focus of the proposed research was to apply genomic approaches to identify genes that control tuber skin appearance - smooth and shiny skin is highly preferred by the customers while russeted/netted skin potatoes are rejected. The breeding program (at Cornell University) seeks to develop smooth-skin varieties but has encountered frequent difficulties as inheritance of russeting involves complementary action by independently segregating genes, where a dominant allele at each
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Schaffer, Arthur A., and Jocelyn Rose. Understanding Cuticle Development in Tomato through the Study of Novel Germplasm with Malformed Cuticles. United States Department of Agriculture, 2013. http://dx.doi.org/10.32747/2013.7593401.bard.

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Plant cuticle development and metabolism are still poorly understood, partly due to the chemical complexity of the cuticular layer. The overall research objective was to broaden and deepen our understanding of tomato fruit cuticle development by analyzing novel germplasm with cuticular malformations and by studying the transcriptome and proteome of the fruit epidermal tissues, as strategies to overcome the challenges posed by the recalcitrance of the biological system. During the project we succeeded in identifying two genes with major impact on cuticle development. One of these encoded the fi
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