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Brain small vessel disease 3
- ... gene have been found to cause COL4A1-related brain small-vessel disease. This condition is part of a group of ... and symptoms involving fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by stroke and eye abnormalities. Most ...
- ... Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med. 2009 Apr 23;360( ... I, Ikeuchi T, Nishizawa M, Onodera O. Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-beta1 ...
- ... MCAP), which is characterized by overgrowth of the brain (megalencephaly) and abnormalities caused by enlargement of small blood vessels in the skin (capillary malformations). The mutations that ...
- ... of disorders that affect the heart and blood vessels (cardiovascular diseases), including heart attack and stroke.There are at least three slightly different versions (alleles) of the APOE gene. ...
- ... the SDHA gene have been identified in a small number of people with Leigh ... Heart disease, kidney problems, and difficulty breathing can also occur ...
- ... Copper accumulates in some tissues, such as the small intestine and ... skin, hair, blood vessels, and the nervous system. The signs and symptoms ...
- ... shape without breaking when passing through narrow blood vessels.In muscle and brain cells, ... of these mutations delete small pieces of genetic material, and others change single ...
- ... L. Causative and susceptibility genes for Alzheimer's disease: a review. Brain Res ... J Biol Chem. 2010 Jan 15;285(3):1939-49. doi: 10.1074/jbc.M109.057216. ...
- ... and accumulating on the walls of the blood vessels, increasing a person's risk of cardiovascular disease.LDLs are among megalin's ligands, and researchers ...
- ... Maffucci syndrome (described above) but without the blood vessel abnormalities.As in Maffucci syndrome, the IDH1 gene mutations that cause Ollier disease are somatic gain-of-function mutations and are ...