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News
Common Lupus Gene Variant Boosts Antiviral Defenses at the Cost of
6+ hour, 20+ min ago (778+ words) Why do genetic variants that raise the risk of autoimmune disease remain so common in the human population? Evolutionary logic would seem to argue that harmful versions of genes should slowly disappear, yet many of the inherited risk factors for…...
Newly Discovered Trypsinogen Variants Drive Immune Responses in
13+ hour, 10+ min ago (654+ words) A team of researchers in China has uncovered a genetic clue that may help explain why some patients develop immunoglobulin G4-related disease, a chronic fibroinflammatory condition that can strike the pancreas, salivary glands, and other organs....
Environmental Stress May Have Loosened DNA Repair Rules on the Y Chromosome
17+ hour, 17+ min ago (795+ words) A provocative new hypothesis published in the open-access journal Epigenetics Communications proposes that prolonged environmental stress in the ancient southern Levant may have transiently loosened the normally rigid rules of DNA repair in one specific human Y-chromosome lineage, allowing rare…...
Single-cell eQTL analysis reveals genetic control of immune cells in
3+ day, 21+ hour ago (807+ words) A team of Russian researchers has produced one of the most detailed maps to date of how human genetic variation controls the behavior of immune cells, linking DNA differences to gene activity one cell type at a time and connecting…...
MED1 shapes cancer gene expression in a context-dependent manner
4+ day, 23+ hour ago (665+ words) In the dense machinery of gene regulation, few molecules have proven as paradoxical as MED1, a subunit of the Mediator complex that serves as a molecular bridge between transcription factors and RNA polymerase II....
MCC protein links Wnt signaling to blood vessel polarity and remodeling
6+ day, 15+ hour ago (99+ words) In a discovery that rewrites part of the molecular playbook governing how blood vessels build and refine themselves, researchers in France and Canada have identified the protein MCC—better known for its association with colorectal cancer—as a crucial link…...
MissenseHMM annotates missense variants by jointly modeling pathogenicity
1+ week, 5+ hour ago (769+ words) Every day, laboratories and clinics around the world generate genetic sequences in which a single letter of the DNA code has been swapped for another, and many of these changes alter the amino acid composition of the proteins those genes…...
Losing Mincle receptor guards against LPS-driven preterm birth and fetal
1+ week, 14+ hour ago (602+ words) In a discovery that could reshape how medicine approaches one of obstetrics’ most devastating problems, researchers in Shenzhen, China have shown that deleting a single immune receptor in myeloid cells completely protects pregnant mice from infection-driven preterm birth — and, remarkably,…...
How NR5A1 gene variants drive 46,XY sex development disorders
1+ week, 16+ hour ago (104+ words) Variants in a single “master switch” gene called NR5A1 have long been known to disrupt male sexual development, but why one child is severely affected while another with a similar mutation escapes with milder features has remained one of the most…...
Genome-wide study across ancestries reveals genetic roots of Hashimoto’s
1+ week, 19+ hour ago (916+ words) In the largest genetic investigation of its kind to date, an international team of researchers has mapped the genetic architecture of Hashimoto’s thyroiditis, the most common autoimmune disease in the world, through multi-ancestry genome-wide association analyses spanning tens of thousands…...