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- Hereditary hemorrhagic telangiectasia - Symptoms and causes
Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is a condition that's passed through families, called inherited It causes atypical links between arteries and veins called arteriovenous malformations (AVMs) The most common sites AVMs affect are the skin, nose, digestive system, lungs, brain and liver AVMs may get larger over time
- Huntingtin - Wikipedia
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage
- HTT huntingtin [Homo sapiens (human)] - Gene - NCBI
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product
- Targeting Huntingtin Expression in Patients with Huntington’s Disease
IONIS-HTT Rx (hereafter, HTT Rx) is an antisense oligonucleotide designed to inhibit HTT messenger RNA and thereby reduce concentrations of mutant huntingtin We conducted a randomized,
- Huntington Disease | Learn Science at Scitable - Nature
HD is a rare, adult-onset, autosomal dominant, progressive neurodegenerative disease George Huntington (Figure 1) was the first person to provide a comprehensive description of adult-onset HD
- 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
- The biological function of the Huntingtin protein and its relevance to . . .
Huntington’s Disease (HD) is a progressive and disabling neurodegenerative disorder of the central nervous system, affecting approximately 1 in 10,000 individuals [1] Patients suffer from motor, cognitive, and behavioural disturbances arising at a mean age of 35 years
- Htt Gene: Functions, Disorders, and Therapeutic Strategies - Genetics
The Htt gene encodes a protein called huntingtin, which plays a role in various cellular processes, including neuronal development and vesicular trafficking
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