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Tag: mutation

Big Apple variant official: is there gonna be concern for another viral “spike”?

New research led by Patrick McGann from Walter Reed Army Institute of Research found the first cases of the B.1.1.220 variant with an E484K...

Colon cancer: why does it drops with age, while stems up with youth?

As cancer death rates drop overall, doctors have noted a frightening anomaly: deaths from colorectal cancer in people under 55 appear to be creeping...

Pancreatitis: genetics lies beneath for the environment and choices to work

Pancreatitis is a disease that causes the pancreas to become inflamed, triggering severe abdominal pain. Long-term pancreatitis can cause the organ to stop functioning...

Linking breast cancer to a genetic syndrome: common proteins, easier way to treat?

An international team of researchers led by scientists at Baylor College of Medicine has new insights into the function of neurofibromin, a tumor suppressor...

Eye disease like chips dialogue: RAM stays on the core, ROM looks peripherin’

Two diagnoses you never want to hear from the eye doctor are macular degeneration and retinitis pigmentosa. Both are genetic disorders that can cause...

Down syndrome: protein synthesis as first target to treat memory and cognition

Everyone knows that Down syndrome (DS) is the leading genetic cause of cognitive disability and the most frequently diagnosed chromosomal disorder. In a surprising...

Rare skin syndrome: disentangling the root begins since CYLDhood

CYLD cutaneous syndrome (CCS) is a hereditary condition that affects areas of the body where there are hair follicles and leads to skin tumours...

Cancers and aminoacids: (mi)splicing the building blocks at the inteRNAl level through diet?

A research team from the Johns Hopkins Kimmel Cancer Center reports it has discovered a metabolic vulnerability in multiple types of cancer cells that...

Familiar polyposis prevention: beside NSAIDs, antibiotics seem effective

Researchers from Tel Aviv University and Tel Aviv Sourasky Medical Center (Ichilov Hospital) have developed an innovative drug treatment for familial adenomatous polyposis (FAP),...

Control tower to diabetes: type 1, find a marker; type 2, repair the damage

Type 1 diabetes, an autoimmune disease that typically emerges before the age of 20, wipes out the body's ability to produce insulin--a hormone that's...

The cancer dice is cast: youth stay fruitful, aging comes for reaping

The evidence against the traditional model of oncogenesis gets curiouser and curiouser. The saying "God doesn't play dice" is meant to suggest that nothing...

Brain aneurysms: genetics unveils the mistake, drug repurposing helps it

Brain aneurysms are a bulge in a blood vessel caused by a weakness in the blood vessel wall. As blood passes through the weakened...

To sickle the red fibers: efficiency seems a key factor

Sickle cell disease is an inherited lifelong disorder that causes problems in the protein within red blood cells, called hemoglobin. The hemoglobin molecules carry...

Eye melanoma: old inhibitor from coralberry stucks the (G)q for good

An active substance that has been known for 30 years could unexpectedly turn into a ray of hope against eye tumors. This is shown...

USP15: from immune system to cancer, the enzyme tags the repair

BRCA1 is one of the best-known genes linked to breast cancer risk. Mutations in the BRCA1 gene were found in around 50% of familial breast cancer...

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