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Hereditary α-tryptasemia; a review of mechanisms linking α-tryptase gene dosage to intestinal homeostasis and immunopathology [PDF]
Frontiers in AllergyHereditary α-tryptasemia (HαT) is a genetic trait characterized by increased TPSAB1 copy number. Identified in 2015, the HαT trait impacts approximately 4%–6% of individuals of European ancestry and manifests with core clinical features in one-third of ...
Ilaria M. Simeone +9 more
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Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes [PDF]
Cell GenomicsSummary: Copy-number variants (CNVs) that increase the risk for neurodevelopmental disorders also affect cognitive ability. However, such CNVs remain challenging to study due to their scarcity, limiting our understanding of gene-dosage-sensitive ...
Guillaume Huguet +29 more
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A general lack of compensation for gene dosage in yeast
Molecular Systems Biology, 2010 Gene copy number variation has been discovered in humans, between related species, and in different cancer tissues, but it is unclear how much of this genomic‐level variation leads to changes in the level of protein abundance.
Michael Springer +2 more
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A Quantitative Perspective of Alpha-Synuclein Dynamics – Why Numbers Matter
Frontiers in Synaptic Neuroscience, 2021 The function of synapses depends on spatially and temporally controlled molecular interactions between synaptic components that can be described in terms of copy numbers, binding affinities, and diffusion properties.
Christian G. Specht
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eLife, 2022 Complex mechanisms regulate gene dosage throughout eukaryotic life cycles. Mechanisms controlling gene dosage have been extensively studied in animals, however it is unknown how generalizable these mechanisms are to diverse eukaryotes.
Sean Akira Montgomery +7 more
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Plasmodium Reproduction, Cell Size, and Transcription: How to Cope With Increasing DNA Content?
Frontiers in Cellular and Infection Microbiology, 2021 Plasmodium, the unicellular parasite that causes malaria, evolved a highly unusual mode of reproduction. During its complex life cycle, invasive or transmissive stages alternate with proliferating stages, where a single parasite can produce tens of ...
Marta Machado +3 more
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Consequences of Chromosome Loss: Why Do Cells Need Each Chromosome Twice?
Cells, 2022 Aneuploidy is a cellular state with an unbalanced chromosome number that deviates from the usual euploid status. During evolution, elaborate cellular mechanisms have evolved to maintain the correct chromosome content over generations.
Narendra Kumar Chunduri +2 more
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Biomédica: revista del Instituto Nacional de Salud, 2000 Se identificaron 7 mujeres portadoras y 15 no portadoras de deleción en 16 familias con distrofia muscular de Duchenne o de Becker (DMDIDMB) mediante PCR multiplex cuantitativa y análisis de dosis génica. Los afectados con DMDIDMB mostraron deleciones en
Patricia Hernández +2 more
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Disease Models & Mechanisms, 2021 Heterozygous mutations in HNF1B cause the complex syndrome renal cysts and diabetes (RCAD), characterized by developmental abnormalities of the kidneys, genital tracts and pancreas, and a variety of renal, pancreas and liver dysfunctions.
Leticia L. Niborski +12 more
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Gene Expression in
mBio, 2017 Leishmania tropica, a unicellular eukaryotic parasite present in North and East Africa, the Middle East, and the Indian subcontinent, has been linked to large outbreaks of cutaneous leishmaniasis in displaced populations in Iraq, Jordan, and Syria. Here,
Stefano A. Iantorno +9 more
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