Tag: <span>Mutations</span>

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Map of disease-causing mutations in neurodevelopmental disorders and cancer revealed
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Map of disease-causing mutations in neurodevelopmental disorders and cancer revealed

by Wellcome Trust Sanger Institute Experimental design overview. a Two independent sgRNAs and associated HDR variant libraries are designed at the 5′ and 3′ end of each exon. b The sgRNA, together with the HDR template library are transfected into LIG4-KO Cas9-expressing HAP1 cells. HDR utilizes the library as a template for repair of the sgRNA-directed...

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Psoriasis not caused by spontaneous mutations in skin cells

Genetic analysis of psoriasis shows somatic mutations are not linked to the development or the spread of the condition.Peer-Reviewed Publication WELLCOME TRUST SANGER INSTITUTE Psoriasis — a chronic skin condition — is not caused or spread by spontaneous genetic mutations in the skin, new research suggests. The team, from the Wellcome Sanger Institute and collaborators,...

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Study: Antiviral Med Linked to COVID Mutations That Can Spread

Ralph Ellis September 26, 2023 The antiviral COVID medication made by Merck can cause mutations in the coronavirus that occasionally spread to other people, according to a study published in the online journal Nature. There’s no evidence that molnupiravir, sold under the brand name Lagevrio, has caused the creation of more transmissible or severe variants of COVID,...

Computational method uncovers the effects of mutations in the noncoding genome
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Computational method uncovers the effects of mutations in the noncoding genome

by Brigham and Women’s Hospital Graphical abstract. Credit: Cell Genomics (2023). DOI: 10.1016/j.xgen.2023.100327 Less than two percent of the human genome codes for proteins, with the rest being noncoding and likely helping with gene regulation. Mutations in the noncoding genome often trigger trait changes that cause disease or disability by altering gene expression. However, it can be hard...

Scientists discover how mutations in a language gene produce speech deficits
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Scientists discover how mutations in a language gene produce speech deficits

by Anne Trafton, Massachusetts Institute of Technology A new study shows that when the gene Foxp2 is knocked out in mouse striatal neurons (top right panel), the protein dynactin (stained red) and the chain that binds dynactin and dynein (stained green) show abnormal spacing compared to wildtype neurons (top left panel). This suggests that the functions...

Scientists harness power, precision of RNA to make mutations invisible
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Scientists harness power, precision of RNA to make mutations invisible

by Emily Boynton, University of Rochester Medical Center Graphical abstract. Credit: Molecular Cell (2023). DOI: 10.1016/j.molcel.2023.01.009 Scientists have discovered a new way to suppress mutations that lead to a wide range of genetic disorders. A study recently published in the journal Molecular Cell describes a strategy that co-opts a normal RNA modification process within cells to transform disease genes into normal genes that produce...

New model helps identify mutations that drive cancer
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New model helps identify mutations that drive cancer

Anne Trafton | MIT News Office Publication Date: June 20, 2022 Caption: An MIT-led team has built a new system that rapidly scans the genome of cancer cells, could help researchers find targets for new drugs. Credits: Image: Dylan Burnette and Jennifer Lippincott-Schwartz, National Institutes of Health, edited by MIT News Cancer cells can have...

Mutations in noncoding DNA are found to protect the brain from ALS
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Mutations in noncoding DNA are found to protect the brain from ALS

by Weizmann Institute of Science Credit: CC0 Public Domain Genetic mutations linked to a disease often spell bad news. Mutations in over 25 genes, for example, are associated with amyotrophic lateral sclerosis, or ALS, and they all increase the risk of developing this incurable disorder. Now, a research team headed by Prof. Eran Hornstein of...

New high-throughput method greatly expands view of how mutations impact cells
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New high-throughput method greatly expands view of how mutations impact cells

by Tom Ulrich, Broad Institute of MIT and Harvard Credit: DOI: 10.1038/s41587-021-01160-7 There are millions of mutations and other genetic variations in cancer. Understanding which of these mutations is an impactful tumor “driver” compared to an innocuous “passenger,” and what each of the drivers does to the cancer cell, however, has been a challenging undertaking....

South Africa detects new COVID variant with many mutations
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South Africa detects new COVID variant with many mutations

Credit: Pixabay/CC0 Public Domain Scientists in South Africa said Thursday they had detected a new COVID-19 variant with a large number of mutations, blaming it for a surge in infection numbers. The number of daily infections in Africa’s hardest-hit country has increased tenfold since the start of the month.  “Unfortunately we have detected a new...

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