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- Hereditary hemorrhagic telangiectasia - Symptoms and causes
HHT is a condition of gene changes, called genetic, that you get from your parents It is an autosomal dominant disorder That means if one of your parents has HHT, you have a 50% chance of getting it If you have HHT, each of your children has a 50% chance of getting it from you
- Huntingtin - Wikipedia
The Huntingtin (HTT) protein is a large, predominantly α-helical molecule composed of 3,144 amino acids and weighing approximately 348kDa in its canonical form
- Huntington’s Disease: What It Is, Symptoms Treatment
Huntington’s disease is a genetic condition that affects the cells in your brain It’s a progressive condition that gets worse over time Common symptoms affect your movement, thoughts and feelings Symptoms usually start between the ages of 30 and 50 Treatment is available to help you feel more comfortable What is Huntington’s disease?
- New Understanding of How Genetic Mutation Causes Huntington’s Disease
For 30 years, researchers have known that Huntington’s disease is caused by an inherited mutation in the Huntingtin (HTT) gene in which a three-letter DNA sequence, C-A-G, is repeated at least 40 times
- The Genetics of Huntingtons Disease - Perelman School of Medicine at . . .
Mutations in the HTT gene are responsible for Huntington's disease This gene codes for the huntingtin protein and within the HTT gene is a DNA sequence known as the CAG trinucleotide repeat
- HTT Gene - GeneCards | HD Protein | HD Antibody
HTT (Huntingtin) is a Protein Coding gene Diseases associated with HTT include Huntington Disease and Lopes-Maciel-Rodan Syndrome Among its related pathways are Gene expression (Transcription) and Transcriptional Regulation by MECP2
- Huntington Disease | Learn Science at Scitable - Nature
Today, researchers can literally "measure" the HD-associated gene, called huntingtin (HTT), by determining the number of repeats of a set of three specific bases within this gene
- Huntingtons Disease Etiology | Medically Roche
Researchers identified that the number of CAG trinucleotide repeat expansions in the huntingtin gene (HTT) has been shown to correlate with the age of disease onset 2,3 It is known that a CAG repeat length of ≥40 results in definite HD, 1,7-10 CAG repeat length inversely correlates with age of onset, 3,7 and other genetic and environmental
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