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Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1822-7
Abstract: The zona pellucida (ZP) is an extracellular matrix universally surrounding mammalian eggs, which is essential for oogenesis, fertilization, and pre-implantation embryo development. Here, we identified two novel heritable mutations of ZP2 and ZP3, both occurring…
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Keywords:
zp2 zp3;
dosage effects;
effects zp2;
heterozygous mutations ... See more keywords
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Published in 2025 at "Nature Communications"
DOI: 10.1038/s41467-025-65915-5
Abstract: Aneuploidy induces chromosomal scale alterations in gene dosage, impacting organismal proliferation yet serving as a driver for adaptive evolution. The complexity of gene dosage effects makes it challenging to elucidate the causal genetic basis of…
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Keywords:
dosage;
driving aneuploid;
dosage effects;
yeast ... See more keywords
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Published in 2025 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2503039122
Abstract: Significance Human stature is one of many physical phenotypes that vary between the sexes. On average, adult males are taller than females. However, the underlying biological mechanisms that explain this dimorphism are not entirely understood.…
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Keywords:
gene dosage;
effects primary;
dosage effects;
sexual dimorphism ... See more keywords