Autor: Clinical genetics
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Cell and gene therapy across 35 years—a bibliometric analysis of global advances
Cell and gene therapies, or CGT, have come a long way since they were first introduced. In the last few decades, both cell therapy—the transplantation of living cells—and gene therapy—the use of genetic material to modify cell functions—have been incre…
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Mapping the role of a master regulator in early brain development
New findings from Karolinska Institutet reveal how the gene HNRNPU coordinates several fundamental molecular processes during the earliest stages of human brain development. The study is published in Nucleic Acids Research and helps explain why childre…
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Which childhood abuse survivors are at elevated risk of depression? New study provides important clues
Scientists have identified a pattern of gene activity present in some female survivors of childhood abuse that is associated with an elevated risk of depression.
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Genetic risk may rival obesity as a key driver of endometrial cancer
A major new study has found genetics play a powerful and independent role in endometrial cancer risk—challenging the long-held belief that obesity is the primary driver. The findings could lead to better screening of the women most at risk of developin…
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AI-built maps reveal causal gene regulation across Alzheimer’s brain cell types
Researchers led by Min Zhang and Dabao Zhang of the University of California, Irvine’s Joe C. Wen School of Population & Public Health have created the most detailed maps to date showing how genes causally regulate one another across different types of…
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Study reveals the gene networks driving sex differences in respiratory health
A new study has confirmed that male and female lungs are «wired differently» at the molecular level, providing further evidence supporting sex-inclusive respiratory disease research and treatment. The work is published in The FASEB Journal.
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Bicuspid aortic valve is caused by variation in numerous genes active in neonatal development of human heart
Bicuspid aortic valve (BAV) is a common congenital heart defect where the aortic valve has two leaflets (cusps) instead of the usual three, resulting in abnormal blood flow and development of aortic valve diseases such as aortic stenosis and incompeten…
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Studies test whether gene-editing can fix high cholesterol. For now, take your medicine
Scientists are testing an entirely new way to fight heart disease: a gene-editing treatment that might offer a one-time fix for high cholesterol.
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From bench to bedside—research in mice leads to answers for undiagnosed human neurodevelopmental conditions
Nearly 30 years ago, researchers began studying the gene Astn1, which encodes the cell adhesion protein astrotactin 1 in mice, and its role in brain development. During this time, they learned a great deal about the function of astrotactin 1 in neurona…
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Polarized-light imaging shows potential for distinguishing Ehlers–Danlos subtypes
Ehlers–Danlos syndromes (EDS) are inherited conditions that affect the body’s connective tissue, which provides strength and support to the skin, joints, and blood vessels. People with EDS are often affected by stretchy skin, loose joints, and fragile …