Ataxia telangiectasia mutated (ATM) is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks. It phosphorylates several key ...
If you are an ATM gene mutation carrier, you may be interested in a recent study that suggested that ATM mutations could be a rare cause of familial pancreatic cancer.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet].
Descrizione: www.Alfred.TV READ ME FIRST Join me with Dr. Howard Lederman from Johns Hopkins Medicine as he provides us with an overview of the genetic disorder, Ataxia Telangiectasia, better known as "AT". Dr. Lederman's titles at Johns Hopkins Medicine include: ? Professor of Pediatrics ? Director, Immunodeficiency Clinic ? Director, Ataxia-Telangiectasia Clinical Center ? Director, Pediatric Immunology Laboratory AT can be referred to as a "gateway gene", with its mutation, known as "ATM", opening the doors to many other diseases, including: ? Diabetes ? Alzheimer's ? Cerebral Palsy ? Cystic Fibrosis ? Breast Cancer ? Immune Deficiency Dr. Lederman's leading-edge research on AT, with his team at Johns Hopkins Medicine, may also lead to uncovering cures for these other diseases. There are approximately 500 individuals afflicted with AT in the United States. It is a rare, genetic disorder. Also joining us in this video is Jared Digby, with his mother, Pamela, who
Atm Key To Breast Cancer Prediction
Durata: 0:50 minutos
Descrizione: Researchers say they might have found a way to predict breast cancer years before diagnosis. They have analyzed blood samples from some 14-hundred women of various ages, about half of whom developed breast cancer. They found that there is a strong link between breast cancer and changes that happen to a white blood cell gene called ATM. In some cases the changes to that cell were evident up to eleven years before a breast tumor was diagnosed. The discovery could help doctors identify women who are most at risk by a simple blood test.
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