Category: <span>Genetics</span>

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Ribosomal DNA copy number loss and sequence variation in cancer

Abstract Ribosomal DNA is one of the most variable regions in the human genome with respect to copy number. Despite the importance of rDNA for cellular function, we know virtually nothing about what governs its copy number, stability, and sequence in the mammalian genome due to challenges associated with mapping and analysis. We applied computational...

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MAIT cells launch a rapid, robust and distinct hyperinflammatory response to bacterial superantigens and quickly acquire an anergic phenotype that impedes their cognate antimicrobial function: Defining a novel mechanism of superantigen-induced immunopathology and immunosuppression

Abstract Superantigens (SAgs) are potent exotoxins secreted by Staphylococcus aureus and Streptococcus pyogenes. They target a large fraction of T cell pools to set in motion a “cytokine storm” with severe and sometimes life-threatening consequences typically encountered in toxic shock syndrome (TSS). Given the rapidity with which TSS develops, designing timely and truly targeted therapies...

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Gene variant protecting against Alzheimer’s disease decreases plasma beta-amyloid levels

New research from the University of Eastern Finland shows that the APP gene variant protecting against Alzheimer’s disease significantly decreases plasma beta-amyloid levels in a population cohort. This is a very significant discovery, as many on-going drug trials in the field of Alzheimer’s disease focus on decreasing beta-amyloid levels in the brain tissue. According to...

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Mutation of growth hormone receptor gene in men found to lengthen lifespan

Medical Xpress)—A team of researchers with member affiliations in the U.S., France and Israel has found that a mutation in a growth hormone receptor gene can make some men live longer. In their paper published on the open access site Science Advances, the group outlines their study of several different groups of men and the differences...

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Viral vectors for gene transfer travel longer distances in the brain than thought

Gene transfer as a treatment of neurodegenerative diseases Where viral vectors ‘travel’ and which types of neural cells they infect, can be visualized by fluorescent Proteins being transmitted. Gene transfer is seen as a hopeful therapy for Alzheimer’s and Parkinson’s patients. The approach involves using harmless laboratory-produced viruses to introduce important genes into the brain...

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Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits

Although genome-wide association studies (GWASs) have identified thousands of risk locifor many complex traits and diseases, the causal variants and genes at these loci remain largely unknown. Here, we introduce a method for estimating the local genetic correlationbetween gene expression and a complex trait and utilize it to estimate the genetic correlation due to predicted expression between pairs of traits. We...

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Researchers engineer new thyroid cells

Researchers have discovered a new efficient way to generate thyroid cells, known as thyrocytes, using genetically modified embryonic stem cells. Researchers have discovered a new efficient way to generate thyroid cells, known as thyrocytes, using genetically modified embryonic stem cells. The findings, which appear in the journal Stem Cell Reports, are the first step to developing...

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New studies unravel mysteries of how PARP enzymes work

(From left) Dr. Ziying Liu, Keun Woo Ryu, Dr. W. Lee Kraus, and Dr. Xin Luo led research studies that focused on how PARP enzymes function. A component of an enzyme family linked to DNA repair, stress responses, and cancer also plays a role in enhancing or inhibiting major cellular activities under physiological conditions, new...

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U.S. science advisory committee supports genetic modification of human embryos

Embryos could soon be edited—but there are some caveats. Ever since CRISPR—the relatively cheap and easy-to-use genome editing technique—made its way to the scientific stage, researchers have grappled with one of its biggest ethical quagmires: Its ability to edit human embryos, thereby potentially altering the DNA of subsequent generations. The question of whether to allow such a...