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Insights into monogenic disease [PDF]
Nature Reviews Genetics, 2014 Isabel Lokody, Lokody Isabel
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Mutation Research/Reviews in Mutation Research, 2018
Studies on monogenic diseases are considered valuable because they give insights and expand our knowledge on gene function and regulation. Despite all the current advancement in science and technology, a deep understanding and knowledge as to why only those particular genes are affected in a disease is still vague. We also lack profound illumination as
Anila, Venugopal +5 more
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Studies on monogenic diseases are considered valuable because they give insights and expand our knowledge on gene function and regulation. Despite all the current advancement in science and technology, a deep understanding and knowledge as to why only those particular genes are affected in a disease is still vague. We also lack profound illumination as
Anila, Venugopal +5 more
openaire +2 more sources
Monogenic autoinflammatory diseases: Cytokinopathies
Cytokine, 2015Rapid advances in genetics are providing unprecedented insight into functions of the innate immune system with identification of the mutations that cause monogenic autoinflammatory disease. Cytokine antagonism is profoundly effective in a subset of these conditions, particularly those associated with increased interleukin-1 (IL-1) activity, the ...
Fiona, Moghaddas, Seth L, Masters
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DNA Diagnosis in Monogenic Diseases
International Journal of Technology Assessment in Health Care, 1994AbstractSeveral routine procedures are available for diagnosis of diseases caused by an alteration in a single gene. These techniques include Southern analysis, the polymerase chain reaction, allele-specific oligonucleotide screening, automated DNA nucleotide sequencing, and linkage analysis. DNA testing procedures can be used for diagnosis of disease,
R L, Alford, B J, Rossiter, C T, Caskey
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Monogenic Diseases of DNA Repair
New England Journal of Medicine, 2017Maintenance of genomic integrity involves cellular processes tailored to specific types of DNA damage. Monogenic disorders in DNA-repair pathways lead to a spectrum of clinical phenotypes that are not always correlated with our understanding of the affected repair pathway.
Keijzers, Guido +2 more
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Ocular involvement in monogenic autoinflammatory disease
Autoimmunity Reviews, 2021Monogenic Autoinflammatory diseases (AIDs) are a broad spectrum of rare hereditary diseases whose ocular involvement has not been well characterized yet. This systematic review aims to provide an overview of the current knowledge about ocular findings in AIDs.A systematic literature review was conducted using 2 electronic databases, according to the ...
Ilaria, Maccora +8 more
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