Week 18 (2017)

Gene controls birth defect common in diabetes

Summary: Researchers have identified a gene that plays a key role in the formation of neural tube defects, a problem commonly found in infants of pregnant women with diabetes. This is the first time the gene has been shown to play this role; it opens up a new way to understand these defects, and may one day lead to new treatments that could prevent the problem or decrease its incidence.
Interest Group: Research
Research Organization: University of Maryland School of Medicine
Journal Article: Nature Communications Protein kinase C-alpha suppresses autophagy and induces neural tube defects via miR-129-2 in diabetic pregnancy.
Full Press Release: Distributed by ScienceDaily
ID:HN1585-002
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Scientists find genetic mutation responsible for rare skin disease in Afrikaners

Summary: Researchers at the Sydney Brenner Institute for Molecular Bioscience and the Division of Human Genetics at Wits, in collaboration with peers in Europe, the US and Canada published this research in the May issue of the American Journal of Human Genetics.
Interest Group: Research
Research Organization: University of the Witwatersrand
Journal Article: The American Journal of Human Genetics Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Full Press Release: Distributed by ScienceDaily
ID:HN1585-003
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Novel tool confers targeted, stable editing of epigenome in human stem cells

Summary: New technology adds methyl groups at specific positions on DNA, allowing targeted gene correction of aberrant epigenetic disorders.
Interest Group: Research
Research Organization: Salk Institute
Journal Article: Science Integration of CpG-free DNA induces de novo methylation of CpG islands in pluripotent stem cells.
Full Press Release: Distributed by ScienceDaily
ID:HN1585-016
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How epigenetic changes in DNA are interpreted

Summary: A new study maps out how different DNA-binding proteins in human cells react to certain biochemical modifications of the DNA molecule. The scientists report that some ‘master’ regulatory proteins can activate regions of the genome that are normally inactive due to epigenetic changes. Their findings contribute to a better understanding of gene regulation, embryonic development and the processes leading to diseases such as cancer.
Interest Group: Research
Research Organization: Karolinska Institutet
Journal Article:Science Impact of cytosine methylation on DNA binding specificities of human transcription factors.
Full Press Release: Distributed by ScienceDaily
ID:HN1585-017
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