The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective [PDF]
The Scientific World Journal, 2006 The 22q11.2 deletion/DiGeorge syndrome is a relatively common “genomic” disorder that results from heterozygous deletion of a 3-Mbp segment of chromosome 22.
Antonio Baldini
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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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Compensation of gene dosage on the mammalian X. [PDF]
DevelopmentABSTRACT Changes in gene dosage can have tremendous evolutionary potential (e.g. whole-genome duplications), but without compensatory mechanisms, they can also lead to gene dysregulation and pathologies. Sex chromosomes are a paradigmatic example of naturally occurring gene dosage differences and their compensation.
Cecalev D, Viçoso B, Galupa R.
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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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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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Brain region and gene dosage-differential transcriptomic changes in Shank2-mutant mice [PDF]
Frontiers in Molecular Neuroscience, 2022 Shank2 is an abundant excitatory postsynaptic scaffolding protein that has been implicated in various neurodevelopmental and psychiatric disorders, including autism spectrum disorder (ASD), intellectual disability, attention-deficit/hyperactivity ...
Ye-Eun Yoo +4 more
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Gene expression dosage regulation in an allopolyploid fish. [PDF]
PLoS ONE, 2015 How allopolyploids are able not only to cope but profit from their condition is a question that remains elusive, but is of great importance within the context of successful allopolyploid evolution.
I Matos +3 more
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Gene dosage compensation: Origins, criteria to identify compensated genes, and mechanisms including sensor loops as an emerging systems‐level property in cancer [PDF]
Cancer Medicine, 2023 The gene dosage compensation hypothesis presents a mechanism through which the expression of certain genes is modulated to compensate for differences in the dose of genes when additional chromosomes are present.
Diana M. Bravo‐Estupiñan +6 more
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Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]
J Inherit Metab DisABSTRACTHere we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
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