Human Disease
Gene expression regulation by upstream open reading frames and human disease
... cause disease, as has been shown for several human genes [2,91–115] (Table ...associated disease phenotype ...of human diseases associated with mutations that create a uORF include familial ...
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Out of balance: R-loops in human disease.
... and human mitochondrial DNA replica- tion [19,20] and during immunoglobulin class switch recombina- tion, which contributes to the antibody isotype diversity in activated B cells ...and human cells [18,22] ...
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Three-dimensional genome architecture influences partner selection for chromosomal translocations in human disease.
... in human hematologic malignancies have higher Hi-C contact frequencies in lymphoid cells than those reported in sarcomas and epithelial ...in human disease and establish Hi-C as a key method for ...
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Analysis of neutrophil recruitment during tissue regeneration in zebrafish models of human disease
... cardiovascular disease that can result in myocardial infarctions and cerebrovascular disease that can manifest as ischaemic ...(eye disease), nephropathy (kidney disease) and neuropathy ...
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Single-cell transcriptomics in unravelling the molecular complexity of immunity in human disease
... 12 It is important to assess this cell heterogeneity in order to understand fundamental biological processes in health and disease, allowing for the improvement of existing therapies and the discovery of new ones ...
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Impact of tRNA modifications and tRNA-modifying enzymes on proteostasis and human disease
... neurodegenerative disease characterized by degeneration of motor neurons [ 53 ...accelerates disease onset and leads to a decrease of mcm 5 s 2 U nucleosides in tRNAs [ 20 ...the disease by affecting ...
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ADP-ribosylation: from molecular mechanisms to human disease
... Mutations in single-strand break repair genes, such as PNKP, APTX, TDP1 and XRCC1, cause genetic neuro- degenerative disorders characterised by severe cerebellar atrophy and ataxia (Moreira et al., 2001; El-Khamisy et ...
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Structural analysis of mitochondrial mutations reveals a role for bigenomic protein interactions in human disease.
... Complexes I, III, IV and V of the MRC have evolved elegant functional mechanisms to pump protons across the inner mitochondrial membrane by linking multiple substrates with co- factors and metallo-protein sites, while ...
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Human disease-associated genetic variation impacts large intergenic non-coding RNA expression.
... Whole-genome gene expression oligonucleotide arrays have played a crucial role in our understanding of gene regulatory networks. Even though most of the currently available commercial microarrays are designed to capture ...
9
Targeting necroptosis in human disease: potential novel modulators
... After decades of sole 5-FU-based treatment, both improved 5-FU-based therapies and new and more effective agents are changing the way colon cancer is treated. Strategies to improve the anticancer activity of 5-FU include ...
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Biomarkers for susceptibility to infection and disease severity in human malaria
... cause human disease, Plasmodium falciparum and Plas- modium vivax represent the majority of ...benign disease, has now clearly emerged as a potentially lethal condition (Anstey et ...
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The Rose Bengal Test in human brucellosis: a neglected test for the diagnosis of a neglected disease.
... and human beings. The human disease lacks pathognomonic symptoms and laboratory tests are essential for its ...of human brucellosis, particularly in the more chronic forms, and conclude that ...
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A DIseAse MOdule Detection (DIAMOnD) algorithm derived from a systematic analysis of connectivity patterns of disease proteins in the human interactome.
... known disease proteins further allowed us to design a predictive and robust algorithm to uncover unknown disease associations and construct a com- prehensive disease ...real disease modules ...
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Risk of coronary artery disease in individuals infected with human immunodeficiency virus
... All patients underwent glucose, triglycerides, HDL- cholesterol, LDL-cholesterol and total cholesterol (TC) measurements after a 12-hour fasting period. For female patients of childbearing age, a qualitative ...
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Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease.
... construct encoding full-length sortilin [66] was expressed using the mammalian expression vector pcDNA3.1/zeo (Invitrogen, Gronin- gen, NL). Cells were transfected with pcDNA3.1/zeo using FUGENE 6 (Roche, CH), and a ...
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Molecular and functional analysis of DAND5 in human Congenital Heart Disease (CHD)
... heart disease (CHD) is sporadic, with a minority of cases associated with a known genetic ...– human DAND5), a protein that inhibit Nodal signaling, prompt us to study cardiac and laterality diseases, since ...
184
Chagas disease and human migration
... triatomines significantly nor the mammals which have been naturally infected. Humans might then have become infected as a single addition to the already extensive host range of T. cruzi that in- cludes other primates ...
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An Evidenced-Based Scale of Disease Severity following Human Challenge with Enteroxigenic Escherichia coli.
... a disease scoring algorithm that incorporated outcomes other than stool output could have great application in the ...in disease classification that may not be commensurate with the overall individual ...
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Assessment of the risk of contracting Lyme disease in areas with significant human presence
... The study was performed at three localities in Serbia, namely: Kljajićevo, Mt. Avala, and Bovan Lake. Ticks were collected within the sampling areas (one for each locality) reaching diameters of 200m. While the sampling ...
9
Human T Lymphotropic Virus Type I (HTLV-I) is a Risk Factor for Coronary Artery Disease
... The key point of infection with this virus is that more than 90% of the carriers remain asymptomatic whereas it may cause severe disorders such as ATL, HAM/TSP, HTLV- I infection-related dermatitis (IDH), uveitis, ...
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