Category: <span>Genetics</span>

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Researchers pave way to target an autoimmune disease-associated gene variant

by Serena Crawford, Yale University Superimposed structures of the SRA domain bound to DNA double helix (orange) from the 3CLZ.pdb, modeled CMFT bound SRA (yellow) and methylated cytosine (green). Credit: Journal of Biological Chemistry (2024). DOI: 10.1016/j.jbc.2024.107443In a new study, Yale researchers identified a molecule that binds to a disease-associated macrophage migration inhibitory factor (MIF)...

Scientists uncover novel major risk gene for autoimmune thyroid disease
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Scientists uncover novel major risk gene for autoimmune thyroid disease

JULY 12, 2024 by deCODE genetics LAG3 5′ UTR variant rs781745126-T creates a novel upstream open reading frame (uORF) and associates with lower plasma levels of LAG-3. Credit: Nature Communications (2024). DOI: 10.1038/s41467-024-50007-7Scientists at deCODE genetics have published a study in Nature Communications, comparing over 110 thousand patients with autoimmune thyroid disease (AITD) from Iceland,...

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New molecules to modulate gene expression

A new research paper published in Nature Communications lays the groundwork for the development of new drugs specific to genetic mutations or alterations responsible for the onset of tumours or genetic diseases Peer-Reviewed PublicationISTITUTO ITALIANO DI TECNOLOGIA – IIT IMAGE: BLOCKING OF THE SPLICING ACTIVE SITE BY SPECIFIC SMALL MOLECULES view moreCREDIT: ISABEL ROMERO CALVO/EMBL...

New class of cancer mutations discovered in so-called ‘junk’ DNA
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New class of cancer mutations discovered in so-called ‘junk’ DNA

JULY 3, 2024 by Garvan Institute of Medical Research Visualized DNA damage (green) in human breast cancer cells (blue). Credit: Garvan InstituteUsing artificial intelligence, Garvan Institute researchers have found potential cancer drivers hidden in so-called ‘junk’ regions of DNA, opening up possibilities for a new approach to diagnosis and treatment. Non-coding DNA—the 98% of our...

Gene variant may underlie diabetes disparities: study
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Gene variant may underlie diabetes disparities: study

NEWS RELEASE 25-JUN-2024 Peer-Reviewed Publication VANDERBILT UNIVERSITY MEDICAL CENTER IMAGE: CO-CORRESPONDING AUTHOR AYUSH GIRI, PHD. CREDIT: VANDERBILT UNIVERSITY MEDICAL CENTER A genetic variation common in people of African ancestry is associated with an increased risk of complications from diabetes, including diabetic retinopathy, according to a report published June 25 in the journal Nature Medicine. The...

New gene linked to osteoporosis identified
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New gene linked to osteoporosis identified

JULY 1, 2024 by Osaka University Molecular mechanism of senescence induced by osteoblast MEN1 deficiency SASP: senescence-associated secretory phenotype. Credit: Aging Cell (2024). DOI: 10.1111/acel.14254Osteoporosis—weakening of the bones with age—affects millions worldwide, and this figure is increasing annually as the global population ages. It is associated with the aging, or “senescence,” of bone cells, but...

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Pancreatic Gene Therapy: A ‘One-and-Done’ GLP-1 Treatment?

MEDBRIEF Nancy A. Melville June 25, 2024 TOPLINE:An experimental pancreatic gene therapy given to a mouse model of obesity as a one-time, single-dose treatment showed improvements in body composition and fasting glucose comparable with those achieved with the glucagon-like peptide 1 (GLP-1) receptor agonist semaglutide, without the reversal of fat-loss and glycemia improvements that are...

Study elucidates crucial role of G900 gene enhancers in asthma-associated inflammation
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Study elucidates crucial role of G900 gene enhancers in asthma-associated inflammation

JUNE 24, 2024 by Chiba University Researchers identify G900-dependent mechanism of in vivo Th2 differentiation. Credit: Arifumi Iwata from Chiba UniversityAsthma patients experience respiratory distress due to allergens like house dust mites or pollen. However, the various triggers for asthma share a common pathway involving the release of proteins called type-2 cytokines by Type-2 helper...

Oral Contraceptive Use Linked to Hair Loss
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Oral Contraceptive Use Linked to Hair Loss

The contraceptive pill could increase the risk of frontal fibrosing alopecia if a mutation in a specific gene is present.NewsPublished: May 30, 2024 | Original story from King’s College London Credit: Reproductive Health Supplies Coalition / Unsplash. A new study published in JAMA Dermatology looks at how taking the oral contraceptive pill could be linked...

Team finds new potential causes of rare and lethal bone cancer
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Team finds new potential causes of rare and lethal bone cancer

MAY 31, 2024 by Children’s Hospital Los Angeles Credit: Molecular Cancer Research (2024). DOI: 10.1158/1541-7786.MCR-23-0741 Little is known about the genetics and biology of chordoma, a rare and aggressive bone tumor. Chordomas occur in approximately one in a million people in the U.S. a year and 5% of these are in children. These tumors can...