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Complex disease
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Congenital factor VII deficiency is a rare disease. Inhibitor development in congenital factor VII deficiency is an extreme rare phenomen, as the main challenge of replacement therapy by a high rate of life-threatening bleeding, that renders replacemrnt therapy less effective.
4p
viwalton
29-06-2024
1
1
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A new class of antibody-based drug therapy with the potential for disease modification is now available for Alzheimer’s disease (AD). However, the complexity of drug eligibility, administration, cost, and safety of such disease modifying therapies (DMTs) necessitates adopting new treatment and care pathways.
12p
vishanshan
27-06-2024
2
1
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Ovarian cancer (OC) is a complex disease with significant tumor heterogeneity with the worst prognosis and highest mortality among all gynecological cancers. Glycosylation is a specific post-translational modification that plays an important role in tumor progression, immune escape and metastatic spread. The aim of this work was to identify the major glycosylation-related genes (GRGs) in OC and construct an effective GRGs signature to predict prognosis and immunotherapy.
16p
vikoch
27-06-2024
1
1
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Ebook "Systems biology of apoptosis" summarizes all current achievements in this emerging field. Apoptosis is a process common to all multicellular organisms. Apoptosis leads to the elimination of cells via a complex but highly defined cellular programme. Defects in the regulation of apoptosis result in serious diseases such as cancer, autoimmunity, AIDS and neurodegeneration. Recently, a substantial step forward in understanding the complex apoptotic pathways has been made by utilising systems biology approaches.
211p
ladongphongthanh1008
22-04-2024
4
2
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Ebook "Prescribing by numbers: Drugs and the definition of disease" highlights the complex historical role of pharmaceuticals in the transformation of disease categories. Greene narrates the expanding definition of the three principal cardiovascular risk factors—hypertension, diabetes, and high cholesterol—each intersecting with the career of a particular pharmaceutical agent.
337p
tracanhphuonghoa1007
22-04-2024
4
2
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Part 2 book "General and oral pathology for dental hygiene practice" includes content: Developmental disorders of the orofacial complex; disorders of genetics and inheritance; neoplasms of the oral soft tissues and facial skin; neoplasms of the bones of the mandible and maxilla; systemic pathology and oral manifestations of systemic diseases.
180p
muasambanhan10
11-04-2024
2
1
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Initial comments on the effectiveness of surgical treatment of vitiligo Research subjects and methods: A prospective study on 12 cases of vitiligo that were successfully treated with autologous pigment cell transplant surgery. Research period from September 2018 to October 2022 at the Center for Plastic Surgery, Surgery & Regeneration - Le Huu Trac National Burn Hospital.
9p
vioraclene
31-03-2024
5
2
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Unraveling functional noncoding variants associated with complex diseases is still a great challenge. We present a novel algorithm, Prioritization And Functional Assessment (PAFA), that prioritizes and assesses the functionality of genetic variants by introducing population differentiation measures and recalibrating training variants.
18p
vibransone
28-03-2024
1
1
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The extent to which changes in gene expression can influence cardiovascular disease risk across different tissue types has not yet been systematically explored. We have developed an analysis pipeline that integrates tissue-specific gene expression, Mendelian randomization and multiple-trait colocalization to develop functional mechanistic insight into the causal pathway from a genetic variant to a complex trait.
15p
vibransone
28-03-2024
4
2
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Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (WGS), resolve the precise variant configuration and investigate possible mechanisms of cxSV formation.
10p
vibransone
28-03-2024
4
1
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Human kidney organoids hold promise for studying development, disease modelling and drug screening. However, the utility of stem cell-derived kidney tissues will depend on how faithfully these replicate normal fetal development at the level of cellular identity and complexity.
15p
vibransone
28-03-2024
3
2
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Genomic medicine has considerable potential to provide novel diagnostic and therapeutic solutions for patients who have molecularly complex diseases and who are not responding to existing therapies. To bridge the gap between genomic medicine and clinical practice, integration of various data types, resources, and joint international initiatives will be required.
3p
vibransone
28-03-2024
3
2
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Genome-wide association studies have identified over 160 loci that are associated with coronary artery disease. As with other complex human diseases, risk in coronary disease loci is determined primarily by altered expression of the causal gene, due to variation in binding of transcription factors and chromatin-modifying proteins that directly regulate the transcriptional apparatus.
18p
vibransone
28-03-2024
4
1
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Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.
15p
vibransone
28-03-2024
2
2
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We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous structural variant mutagenesis studies involving the Xq22 region of the human genome.
17p
vibransone
28-03-2024
4
2
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Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of inherited risk.
12p
vibransone
28-03-2024
2
2
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Tumor cell-intrinsic mechanisms and complex interactions with the tumor microenvironment contribute to therapeutic failure via tumor evolution. It may be possible to overcome treatment resistance by developing a personalized approach against relapsing cancers based on a comprehensive analysis of cell typespecific transcriptomic changes over the clinical course of the disease using single-cell RNA sequencing (scRNA-seq).
21p
vibransone
28-03-2024
3
2
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Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases. These variants can be combined into a polygenic risk score that captures part of an individual’s susceptibility to diseases.
11p
vibransone
28-03-2024
6
1
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The concentrations of the highly atherogenic lipoprotein(a) [Lp(a)] are mainly genetically determined by the LPA gene locus. However, up to 70% of the coding sequence is located in the complex so-called kringle IV type 2 (KIV-2) copy number variation, a region hardly accessible by common genotyping and sequencing technologies.
13p
vibransone
28-03-2024
3
2
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Systemic sclerosis (SSc) is a genetically complex autoimmune disease mediated by the interplay between genetic and epigenetic factors in a multitude of immune cells, with CD4+ T lymphocytes as one of the principle drivers of pathogenesis.
17p
vibransone
28-03-2024
3
2
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