Cancer is a tricky puzzle. Scientists have been using a special tool called the Reactome Graph Database to understand it better. This tool helps them see how different genes work together in the body. They looked at 862 genes that cause cancer and 324 genes that cause other diseases but often show up in cancer patients too. These genes are like players in a big game...
Scientists found a small but important change in cucumber plants. This change happened naturally over time. It made cucumbers bigger. The change is in the plant's DNA. It affects how the plant grows its seeds and fruits. The change is tiny. It is only 29 parts of the plant's DNA. But it has a big effect. It makes the seeds and fruits of the cucumber plant larger. Th...
A unique genetic mutation linked to a severe skin disorder might have deeper historical roots than previously thought. The mutation, c. 6527insC, is connected to recessive dystrophic epidermolysis bullosa (RDEB), a rare condition causing painful blisters. This mutation is surprisingly common among RDEB patients worldwide, found in Europe and the Americas. Researcher...
In a remarkable breakthrough, French researchers have identified a new blood type in a woman from Guadeloupe. This new blood type, named "Gwada negative, " is quite the rarity, as the woman is the sole known carrier worldwide. The discovery took place 15 years after her blood sample was collected during routine pre-surgery tests. The French Blood Establishment (EFS) ...
The secret behind the vibrant orange fur of cats has finally been uncovered. It turns out that a specific genetic mutation is responsible for this striking color. This mutation affects a gene called ARHGAP36, which is located on the X chromosome. When this gene is altered, it boosts the activity of cells that produce pigment in the skin, leading to the orange hue. T...
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...
PNH, or Paroxysmal Nocturnal Hemoglobinuria, is a unique condition. It's not cancerous, but it's a problem with your blood cells. It all starts with a genetic glitch. There's a specific gene, PIGA, that can have a mutation. This mutation creates a mutant stem cell, which is the first step in the process. This mutation isn't the whole story. The mutant stem c...
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...