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Published in 2017 at "Advanced Biosystems"
DOI: 10.1002/adbi.201700022
Abstract: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system. While 2.5 million people are affected by MS worldwide, there is no cure other than ameliorating the symptoms through broad immune suppression, which…
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Keywords:
treatment;
acetalated dextran;
disease;
multiple sclerosis ... See more keywords
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Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24203
Abstract: One of the greatest challenges in human genetics is deciphering the link between functional variants in noncoding sequences and the pathophysiology of complex diseases. To address this issue, many methods have been developed to sort…
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Keywords:
variants noncoding;
prediction disease;
functional variants;
disease associated ... See more keywords
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Published in 2017 at "Journal of Cellular Biochemistry"
DOI: 10.1002/jcb.25806
Abstract: Alzheimer's is a neurodegenerative disease affecting large populations worldwide characterized mainly by progressive loss of memory along with various other symptoms. The foremost cause of the disease is still unclear, however various mechanisms have been…
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Keywords:
screening exploration;
disease;
computational screening;
disease associated ... See more keywords
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Published in 2020 at "International Ophthalmology"
DOI: 10.1007/s10792-020-01559-2
Abstract: Purpose Achromatopsia (ACHM) is an autosomal recessive cone disorder characterized by pendular nystagmus, photophobia, reduced visual acuity, and partial or total absence of color vision. Mutations in six genes ( CNGA3 , CNGB3 , GNAT2…
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Keywords:
molecular clinical;
cnga3 cngb3;
disease;
thai patients ... See more keywords
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Published in 2021 at "Analytica chimica acta"
DOI: 10.1016/j.aca.2021.338734
Abstract: Disease-associated nucleic acids, such as DNAs and miRNAs, are important biomarkers for the diagnosis, prognosis and treatment guidance of human diseases. Therefore, the accurate and sensitive detection of nucleic acid is of great significance for…
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Keywords:
associated nucleic;
dna;
platform;
disease ... See more keywords
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Published in 2020 at "DNA repair"
DOI: 10.1016/j.dnarep.2020.102867
Abstract: Under conditions of oxidative stress, reactive oxygen species (ROS) continuously assault the structure of DNA resulting in oxidation and fragmentation of the nucleobases. When the nucleobase structure is altered, its base-pairing properties may also be…
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Keywords:
characterization;
dna;
disease;
disease associated ... See more keywords
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Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.01.010
Abstract: Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM,…
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Keywords:
missense variants;
mirror movements;
dcc variants;
congenital mirror ... See more keywords
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Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.144165
Abstract: GWAS studies have identified variant rs17810546 in a non-coding region on chromosome 3 as a risk factor for several auto-immune diseases, including Celiac Disease. In silico analysis reveals that this variant is located in a…
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Keywords:
rs17810546;
celiac disease;
disease associated;
gene ... See more keywords
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Published in 2019 at "Gastrointestinal endoscopy clinics of North America"
DOI: 10.1016/j.giec.2019.02.011
Abstract: Perianal diseases, common complications of Crohn's disease, are difficult to diagnose/manage. Patients with perianal Crohn's disease suffer from persistent pain and drainage, recurrent perianal sepsis, impaired quality of life, and financial burden. Conventional medical and…
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Keywords:
associated crohn;
advances perianal;
perianal disease;
disease ... See more keywords
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Published in 2018 at "Kidney international"
DOI: 10.1016/j.kint.2017.07.015
Abstract: Genetic analyses in atypical hemolytic uremic syndrome (aHUS) and C3-glomerulopathy (C3G) patients have provided an excellent understanding of the genetic component of the disease and informed genotype-phenotype correlations supporting an individualized approach to patient management…
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Keywords:
functional characterization;
disease;
complete functional;
disease associated ... See more keywords
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Published in 2022 at "Mechanisms of Ageing and Development"
DOI: 10.1016/j.mad.2022.111635
Abstract: Raised expression of the receptor for advanced-glycation endproducts (RAGE) in cardiac tissue is well-known in the elderly, in diabetes mellitus, and after acute cardiac infarction or ischemia/reperfusion injuries. RAGE and its binding partners affect the…
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Keywords:
associated rage;
disease associated;
rage;
sex ... See more keywords