Articles with "dosage effects" as a keyword



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Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility

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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… read more here.

Keywords: zp2 zp3; dosage effects; effects zp2; heterozygous mutations ... See more keywords

Inducible chromosomal rearrangement reveals nonlinear polygenic dosage effects in driving aneuploid yeast traits

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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… read more here.

Keywords: dosage; driving aneuploid; dosage effects; yeast ... See more keywords

X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height

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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.… read more here.

Keywords: gene dosage; effects primary; dosage effects; sexual dimorphism ... See more keywords