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Disease pathway
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Genome stability is maintained by the DNA damage repair (DDR) system composed of multiple DNA repair pathways of hundreds of genes. Germline pathogenic variation (PV) in DDR genes damages function of the affected DDR genes, leading to genome instability and high risk of diseases, in particular, cancer.
17p
vishanshan
27-06-2024
2
1
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Relapsed or refractory follicular lymphoma (rrFL) is an incurable disease associated with shorter remissions and survival after each line of standard therapy. Many promising novel, chemotherapy-free therapies are in development, but few are licensed as their role in current treatment pathways is poorly defined.
13p
vishanshan
27-06-2024
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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Obstructive sleep apnea hypopnea syndrome (OSAHS) is a common disease that can cause multiple organ damage in the whole body. Our aim was to use machine learning (ML) to build an independent polysomnography (PSG) model to analyze risk factors and predict OSAHS.
11p
vishanshan
27-06-2024
1
1
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The aim of the present study was to explore whether improvements in guideline adherence can be achieved through the implementation of regional treatment pathways. We chose four regions of Germany with high utilisation of CAs for the study. Here we report the results of the concomitant qualitative study.
9p
vishanshan
27-06-2024
1
1
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Pediatric low-grade glioma (pLGG) is essentially a single pathway disease, with most tumors driven by genomic alterations affecting the mitogen-activated protein kinase/ERK (MAPK) pathway, predominantly KIAA1549::BRAF fusions and BRAF V600E mutations. This makes pLGG an ideal candidate for MAPK pathway-targeted treatments.
11p
vikoch
27-06-2024
1
1
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The primary aim of Cerebral Signal Transduction: From First to Fourth Messengers, therefore, is to offer a comprehensive picture of the recent advances made in the signaling field as it relates to neuronal and cere bral function. The current state of progress provides an exciting opportunity for such a comprehensive focus because molecular tools have become available to selectively remove, reduce, or enhance spe cific components in the signaling pathways, e. g. , by interfering with the genes encoding key proteins.
441p
vimeyers
29-05-2024
3
2
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Ebook "Sphingolipids and metabolic disease" provides an up-to-date review of the fundamentals of sphingolipid metabolism and its role in metabolic diseases. Focusing on the sphingolipid de novo synthesis pathway, the effect of sphingomyelin, ceramide, and sphingosine-1-phosphate, and linkage between sphingolipids and other lipids, such as cholesterol, it covers serine palmitoyltransferase, ceramide synthases, ceramidases, sphingosine kinases, and sphingomyelin synthases, and more.
163p
ladongphongthanh1008
22-04-2024
2
1
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Ebook "Necrotic cell death" presents comprehensive coverage of necrosis from recognized experts from leading academic and medical institutions around the world. In contrast to apoptosis, well-defined as a form of programmed cell death, necrosis used to be considered as accidental (i.e., non-programmed) cell death, usually in response to a severe injury. Accumulating evidence now suggests, however, that necrosis is also programmed and controlled by distinctive "death machinery" in response to various stimuli like oxidative stress or DNA damage.
402p
ladongphongthanh1008
22-04-2024
3
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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In ebook "Developmental biology of neoplastic growth" tumour growth is perceived as a deviation from the normal development of the human organism. The molecular, cellular, and tissue determinants of different tumours are discussed showing that each is a different disease, often corresponding to a particular developmental stage. The natural history of several cancers illustrates how clinical incidence can be just the visible part of the iceberg, while the first changes at the tissue level sometimes occur several years before tumour growth becomes manifest.
263p
tracanhphuonghoa1007
22-04-2024
4
2
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Recent work has reported that the activation of the p53 pathway in primary cells hampers the efficiency of genome editing by CRISPR/Cas9 via induction of apoptosis or cell cycle arrest. These findings highlight the importance of wholly comprehending cellular responses to programmable nucleases in therapeutically relevant cell types to fulfill the promise of genome editing for therapeutic applications for human diseases.
4p
vibransone
28-03-2024
5
2
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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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Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. Although the genetic contribution to the CHD has been long suspected, it has only been well established recently. De novo variants are estimated to contribute to approximately 8% of sporadic CHD.
18p
vibransone
28-03-2024
2
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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Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more.
10p
vioraclene
31-03-2024
8
2
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Tumour necrosis factor (TNF) superfamily cytokines and their receptors regulate diverse immune system functions through a common set of signalling pathways. Genetic variants in and expression of individual TNF superfamily cytokines, receptors and signalling proteins have been associated with autoimmune and inflammatory diseases, but their interconnected biology has been largely unexplored.
15p
vioraclene
31-03-2024
2
2
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Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
The interleukin (IL)-1 pathway is primarily associated with innate immunological defense and plays a major role in the induction and regulation of inflammation. Both common and rare genetic variation in this pathway underlies various inflammation-mediated diseases, but the role of rare variants relative to common variants in immune response variability in healthy individuals remains unclear.
17p
vibransone
28-03-2024
3
2
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We present PhenCards (https://phencards.org), a database and web server intended as a one-stop shop for previously disconnected biomedical knowledge related to human clinical phenotypes. Users can query human phenotype terms or clinical notes. PhenCards obtains relevant disease/phenotype prevalence and co-occurrence, drug, procedural, pathway, literature, grant, and collaborator data.
9p
vibransone
28-03-2024
7
1
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Dyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple pathways. In addition to the standard lipid measurements, apolipoprotein concentrations provide added awareness of the burden of circulating lipoproteins.
18p
viellison
28-03-2024
6
2
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