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Published in 2019 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2019.00085
Abstract: Osteopetrosis is a condition characterized by increased bone mass due to defects in osteoclast function or formation. In the last decades, the molecular dissection of osteopetrosis has unveiled a plethora of molecular players responsible for…
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Keywords:
many genes;
implications treatment;
disease many;
one disease ... See more keywords
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Published in 2022 at "Genes"
DOI: 10.3390/genes13040593
Abstract: Monogenic diseases are primarily caused by mutations in a single gene; thus, they are commonly recognized as genetic disorders with the simplest mechanisms. However, recent studies have indicated that the molecular mechanisms of monogenic diseases…
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Keywords:
many genes;
expression;
monogenic diseases;
regulation ... See more keywords