LND topic: genetic-mutations page 1

genetic mutations

Unlocking the Puzzle of Autism: Four Unique Types Revealed

December 28, 2025

Autism is not a one-size-fits-all condition. This is the clear message from recent scientific research that has identified four distinct types of autism, each with its own set of behaviors and genetic traits. For parents like Marc and Cristina Easton, this news brought a sense of relief and understa

science

Unraveling Cancer's Complex Web: Genes, Pathways, and New Treatment Ideas

November 19, 2025

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 u

health

The Hidden Power of Tiny Changes in Superbugs

May 2, 2025

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 wi

science

Heat's Role in Genetic Changes: How Temperature Affects PDGFRβ Variants

May 1, 2025

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

health

Lung Cancer: The Journey of Advanced Non-Squamous NSCLC Patients

March 7, 2025

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

health

DNA Damage Repair Genes: Unveiling Pakistan's Oral Cancer Secrets

March 7, 2025

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

health

Unlocking the Mysteries of CTNNB1 Disorder: A Stem Cell Breakthrough

February 15, 2025

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 peop

health

The Surprising Truth About Collagen XII

February 9, 2025

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

science

AI's Glowing Protein: Nature's Eons in Hours

January 30, 2025

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, know

health

Understanding Griscelli Syndrome: A Different Kind of HLH Presentation

January 15, 2025

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 lymphohistiocyt