Category: <span>Genetics</span>

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RNA-sequencing study provides novel insights into chronic lymphocytic leukemia
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RNA-sequencing study provides novel insights into chronic lymphocytic leukemia

September 13, 2024 by Karolinska Institutet Long-read RNA-sequencing validates the predicted alternative transcripts related to the ncBAF complex in SF3B1-mutated CLL. Credit: Leukemia (2024). DOI: 10.1038/s41375-024-02379-4RNA-sequencing has become a cornerstone in the study of gene expression, offering insights beyond mere mRNA transcript abundances. One area of increasing interest is alternative splicing, a process that allows...

Genetic analysis sheds light on the role of IFT140 in polycystic kidney disease
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Genetic analysis sheds light on the role of IFT140 in polycystic kidney disease

September 10, 2024 by Tokyo Medical and Dental University Through a comprehensive genetic analysis of patients with PKD but no family history of the disease, researchers found that a mutation in the IFT140 gene was significantly prevalent. Compared to patients with mutations in more commonly affected genes, PKD in people with an IFT140 mutation usually...

Researchers uncover shared cellular mechanisms across three major dementias
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Researchers uncover shared cellular mechanisms across three major dementias

September 11, 2024 by University of California, Los Angeles Credit: Pixabay/CC0 Public DomainResearchers have for the first time identified degeneration-associated “molecular markers”—observable changes in cells and their gene-regulating networks—that are shared by several forms of dementia that affect different regions of the brain. Critically, the UCLA-led research, published in the journal Cell, also identified markers...

Dyslexia and ADHD share genetic links, study shows
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Dyslexia and ADHD share genetic links, study shows

September 10, 2024 by University of Edinburgh Genetic relationships between ten neurodevelopmental and psychiatric disorders. Credit: Molecular Psychiatry (2024). DOI: 10.1038/s41380-024-02649-8Scientists have shed new light on the genetic basis of dyslexia, showing how it overlaps with that of attention deficit hyperactivity disorder (ADHD). This study, led by the University of Edinburgh, is the first to...

Protein NSD2 found to drive early prostate cancer development
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Protein NSD2 found to drive early prostate cancer development

September 9, 2024 by University of Michigan Prostate cancer cells. Credit: NIH Image GalleryResearchers at the University of Michigan Health Rogel Cancer Center have uncovered a key reason that a typically normal protein goes awry and fuels cancer. They found that the protein NSD2 alters the function of the androgen receptor, an important regulator of...

Scientists have discovered that ‘switching off’ a protein called IL-11 can significantly increase the healthy lifespan of mice by almost 25%.
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Scientists have discovered that ‘switching off’ a protein called IL-11 can significantly increase the healthy lifespan of mice by almost 25%.

Good News Network Mice on the right display graying and hair loss – Credit: MRC Laboratory of Medical Science / Duke-NUS Medical SchoolScientists have discovered that ‘switching off’ a protein called IL-11 can significantly increase the healthy lifespan of mice by almost 25%. The UK researchers at Medical Research Council Laboratory and Imperial College London,...

HPV Linked to Disturbing Changes in Human Sperm, Scientists Find
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HPV Linked to Disturbing Changes in Human Sperm, Scientists Find

07 September 2024ByCarly Cassella (Derek Berwin/Getty Images) The human papillomavirus (HPV) is responsible for the vast majority of cervical cancer cases, but this isn’t a sexually transmitted infection that just one half of the population needs to worry about. Researchers from Argentina have found strains of HPV which put people at high risk of cancer...

Keratin gene study pinpoints mutations associated with ‘spindle hair’
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Keratin gene study pinpoints mutations associated with ‘spindle hair’

September 4, 2024 by Inka Väth, University Hospital Bonn Monilethrix hair. Credit: Clump/Wikimedia Commons, CC0 Public DomainFrom infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at the University Hospital Bonn and the University of Bonn have now identified causative mutations in...

Q&A: Differences of sex development 101—it’s complicated
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Q&A: Differences of sex development 101—it’s complicated

August 15, 2024 by Rob Clancy, Hudson Institute of Medical Research Professor Vincent Harley. Credit: Hudson Institute of Medical ResearchBoy or girl? It’s not always as simple as that. Internationally renowned researcher into differences of sex development (DSDs), Professor Vincent Harley, introduces the topic and answers your questions—separating fact from fiction. Recent controversies in the...

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Discovery of key protein that helps cells maintain their identity

News Release 13-Aug-2024 Peer-Reviewed PublicationUniversity of Copenhagen – The Faculty of Health and Medical Sciences The study, published in the journal Cell, marks a step forward in the field of epigenetics and its impact on health and disease. Epigenetics, the study of how genes are turned on or off without changing the DNA itself, is...