The world of bacteria is full of surprises. One such surprise comes from the tiny changes that can happen inside a superbug. These changes can make the bug more or less dangerous. This is what happened with a specific type of Klebsiella pneumoniae. This bacterium is known for being tough to treat with antibiotics. It has a special resistance to a group of drugs calle...
Temperature plays a significant role in how our genes function. This is especially true for a specific spot in the PDGFRβ gene, where four different changes have been found. These changes, known as p. Asn666Lys, p. Asn666Tyr, p. Asn666Ser, and p. Asn666His, lead to a variety of health issues. These issues range from skin and eye problems to severe syndromes affecting...
Lung cancer is a serious disease that affects many people. In Norway, researchers looked into how different types of advanced non-squamous non-small cell lung cancer (NSCLC) are treated. They focused on patients with specific genetic changes: EGFR+, ALK+, and ROS1+. These genetic changes can make a big difference in how the cancer responds to treatment. The study tr...
Scientists have found some interesting things about DNA damage repair genes in people with oral cancer in Pakistan. They looked at five specific genes: TP53, ATR, ATM, CHEK1, and CHEK2. Using advanced tools, they found 42 mutations, with some being completely new. Out of these, 28 were nonsynonymous single nucleotide variations (SNVs). The gene TP53 had the most mut...
CTNNB1 disorder is a neurological condition that affects many people. It is caused by a problem with a gene called CTNNB1. This gene is important for brain development. When it doesn't work right, it can lead to a range of neurological issues. Scientists have created special stem cells from two people with this disorder. These stem cells are called induced pluripoten...
Collagen is like the super-sticky tape that keeps our bodies intact. It's in our skin, bones, and muscles. But what goes wrong when collagen doesn't stick properly? There's a specific gene, COL12A1, that scientists have been studying closely. This gene is responsible for creating a specific type of collagen, Collagen XII. When both copies of this gene are not wor...
Imagine a protein that shines bright like a jellyfish but was not crafted by Mother Nature. Scientists have done the impossible, creating a glowing protein using AI. This protein, esmGFP, was not born from millions of years of evolution. It was dreamt up by AI in a matter of hours. The AI, known as ESM3, learned from a vast collection of known proteins. It didn'...
Griscelli Syndrome (GS) is an unusual genetic condition that combines visual and immune system problems. There are three types of GS, each caused by different genetic changes. Type 1 includes brain issues, while Type 2 might lead to a serious immune overreaction called hemophagocytic lymphohistiocytosis (HLH). This life-threatening condition can be triggered by infec...
Scientists have discovered mutations in the H5N1 bird flu virus from a recent Louisiana patient that could make it easier for the virus to spread among humans. This patient likely got infected from sick or dead birds in their backyard. The changes weren't found in the birds, suggesting they happened during the patient's illness. These mutations are similar to those s...
Ever heard of autoinflammatory disorders? They're like when your body's immune system goes a little haywire and overreacts to tiny, harmless signals. This isn't your typical allergy or infection. We're talking about a small army of neutrophils and macrophages causing too much inflammation. Unlike other immune disorders, these guys don't have anti-nuclear antibodies, ...