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  1. 1

    Bioinformatics and biomarker discovery "omic" data analysis for personalised medicine by Azuaje, Francisco

    Published 2010
    Table of Contents: “…Biomarkers and bioinformatics -- Review of fundamental statistical concepts -- Biomarker-based prediction models: design and interpretation principles -- An introduction to the discovery and analysis of genotype-phenotype associations -- Integrative approaches to genotype-phenotype association discovery / Ana Dopazo -- Biomarkers and gene expression data analysis -- Advances in biomarker discovery with gene expression data / Haiying Wang and Huiru Zheng -- Proteomics and metabolomics for biomarker discovery: an introduction to spectral data analysis -- Data integration in proteomics and metabolomics for biomarker discovery / Kenneth Bryan -- Disease biomarkers and biological interaction networks -- Commentary on disease biomarkers and biological interaction networks / Zhongming Zhao -- Integrative data analysis for biomarker discovery -- Data integration: the next big hope? …”
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    Available online from O'Reilly Online Learning Platform: Academic Edition (EZproxy Access): 2010
    Electronic eBook
  2. 2

    Practical Applications of Computational Biology and Bioinformatics, 17th International Conference (PACBB 2023)

    Published 2023
    Table of Contents: “…Intro -- Preface -- Organization -- Contents -- Main Track -- The Impact of Schizophrenia Misdiagnosis Rates on Machine Learning Models Performance -- 1 Introduction -- 2 Methods -- 2.1 Data Description and Quality Control -- 2.2 Genotype-Phenotype Association -- 2.3 Machine Learning Models -- 2.4 Over-Representation Analysis -- 3 Results -- 3.1 Association Test -- 3.2 Test on Train Data -- 3.3 Filtering of Discordant Samples -- 3.4 Classification Model -- 4 Discussion -- 5 Conclusion -- References…”
    Connect to this title online (unlimited simultaneous users allowed; 325 uses per year)
    Electronic Conference Proceeding eBook
  3. 3

    Retinal Degenerative Diseases XIX Mechanisms and Experimental Therapy

    Published 2023
    Table of Contents: “…-- Regulation of ABCA1 by miR-33 and miR-34a in the aging eye -- The role of gene expressionregulation on genetic risk of Age-related Macular Degeneration -- Elastin layer in Bruch's membrane as a target for immunizatio or tolerization to modulate patthology in the mouse model of somke-induced ocular injury -- Repuprosing drugs for treatment of age-relation macular degeneration -- Extracellular Vesicle RNA Contents as Biomarkers for Ocular Diseases -- Proteomics of retinal extracellular vesicles: a reviw inot an unexplored mechanism in retinal health and AMD pathogenesis -- Prime Editing Strategy to Instally the PRHP2 c.828+1G A mutations -- Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing -- Generation of an Avian Myeloblastosis Virus (AMV) Reverse Transcriptase Prime Editor -- Pre-existing neutralizing antibodies against different adeno-associated virus serotypes in humans and large animal models for gene therapy -- Optimization of Capillary-based Western Blotting for MYO7A -- AAV Serotypes and Their Suitability for RetinalGene Therapy -- Gene Augmentation ofautosomal dominant CRX-associated retinopathies -- Txnip gene therapy of retinitis pigmentosa improves cone health Factors affecting readthrough of natural versus premature termination codons -- Integrating Computational Approaches to Predict the Effect of Genetic Variants on Protein Stability in Retinal Degenerative Disease -- Network biology and medcine to resuce: Applications for retinal disease mechanisms and therapy -- Non-sydromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes -- Exonic variants that affect splicing- an opportunity for "hidden" mutations causing inherited retinal diseases -- Enhanced S-cone Syndrome, a Mini-Review -- The role of microglia in Inherited Retinal Diseases -- CD68: potential contributor to inflammation and RPE cell dystrophy -- Gene Expression of Clusterin, Tissue Inhibitor of Metalloproteinase-1, and Their receptors in Retinal Pigment Epithelial Cells and Muller Glial Cells is Modulated by Inflammatory Stresses -- Axonal Transport Defects in Retinal Ganglion Cells -- Connexins biology in the pathophysiology of retinal diseases -- Role of Nuclear NAD +in Retinal Homeostasis -- Retinal pigmented epithelium-derived ectopic norrin does not promote intraretinal angiogenesis in transgenic mice -- Caveolin-1 Muller glia exist as heat-resistant,high molecular weight complexes -- Role of VLC-PUFAs in Retinal and Macular Degeneration -- Ocular amyloid , condensates, and aggregates - higher order protein assemblies participate in both retinal degeneration and function -- Photoreceptor ion channels in signaling and disease -- The role of peripherin-2 /ROM1 complexes in photoreceptor outer segment disc morphogenesis -- Human mutations in Arl3, a small GTPase involved inlipidated cargo delibery to the cilia cause retinatl dystropthy -- Genotype-Phenotype Association in ABCA4-Associated Retinopathy -- Retinal pathoconnectomics: A Window into Neurodegeneration -- The role of Ceramide in Inherited Retinal Disease Pathology -- Extracelluar Matix: the Unexplored Aspects of Retinal Pathologies and Regeneration -- Role of TFEB in diseases assocaited with lysosomal dysfunction -- Retinoic acid receptor -related oprhan receptors (RORs) in eye development and disease -- A novel mouse model for Late-Onset Retinal Degeneration (L-ORD) devekios RPE abnormalities due to the loss of C1qtnf5/Ctrp5 -- Comparison of mouse models of autosomal dominant retinitis pigmentosa due to P23H muations of Rhodopsin -- Compensatory Cone-Mediated Mechanisms in Inherited Retinal Degeneration Mouse Models: A Functional and Gene Expression Analsyis -- Inhibition of Ryanodine Receptor 1 Reduces Endoplasmic Reticulum (ER) Sress and Promotes ER Protein Degradation in Cyclic Nucleotide-gated Channel Deficiency -- Mouse choroid proteome revisited: foucs on aging -- Morphological and functional comparison of mice models for retinitis pigmentosa -- Current Advancements in Mouse Models of Retinal Disease -- Single-cell ItrnacriptomicProfiling of Muller Glia in the rd10 Retina -- Methods for in vivo characterization of proteostatis in the mouse retina -- Absence or PRCD leads to dysregulation in lipie Homeostatis resulting in disorganizationof photorecptor outer segment structure -- Expansion Microscopy of Mouse Photoreceptro Cilia -- Rod photorecptor specific ablation of Metformin target, AMPK, in preclinical model of autosomal recessvie retinitis pigmentosa -- TLR2 is highly overexpressed in retinal myeloid cells in the rd10 mouse model of retinitis pigmentosa -- Environmental light has an essentail effrect on the diseasae expression in a dominant RPE65 mutation -- Microglia Preserve Visual Function in A Mouse Model of Retinitis Pigmentosa with Rhodopsin-P23H Mutant -- Measuring the release of lactate from wild-type and rd1 mouse retina -- Aerobic glycolysis in photorecptors supports energy demand in the absence of mitochondrial coupling -- Redox Status in Retinitis Pigmentosa -- Perspectives on retinal dolichol metabolismand visual deficits in dolichol metalbolism-associated inherited disorders -- Retinal metabolic profile on IMPG2 deficiency mice with subretinal lesions -- Glutathione-coating of liposomes enhances the delivery of hydrophillic cargo to the inner nuclear layer in retinal cultures -- Modification of Mueller glial cell fate and proliferation with the use of small molecules -- A potential neuroprotective role for pyruvate kinase 2 in retinal degeneration -- Critical role of VEGF as a direct regulator of photorecptor function -- Lysine Ubiquitylation Drives Rhodopsin Protein Turnover -- In-silico prediction of MYO!…”
    Available online from Springer Nature Combo (SCELC)
    Electronic eBook