Minoru mori biography of williams syndrome
Federal government websites often end in. Before sharing sensitive information, make sure you're on a federal government site. The site is secure. NCBI Bookshelf. Genes and Disease [Internet]. Williams syndrome is a rare congenital disorder characterized by physical and development problems.
Minoru Asada, an IEEE Life Fellow, was born in the Shiga Prefecture in Japan on October 1, He attended primary and secondary school in.
Common features include characteristic "elfin-like" facial features, heart and blood vessel problems, irritability during infancy, dental and kidney abnormalities, hyperacusis sensitive hearing and musculoskeletal problems. Although individuals with Williams syndrome may show competence in areas such as language, music and interpersonal relations, their IQs are usually low.
In Williams syndrome individuals, both the gene for elastin and an enzyme called LIM kinase are deleted. Both genes map to the same small area on chromosome 7. In normal cells, elastin is a key component of connective tissue, conferring its elastic properties.
Mori, the company's chairman, was born Aug. 24, , in Kyoto, Japan.
Mutation or deletion of elastin lead to the vascular disease observed in Williams syndrome. On the other hand, LIM kinase is strongly expressed in the brain, and deletion of LIM kinase is thought to account for the impaired visuospatial constructive cognition in Williams syndrome. Williams syndrome is a contiguous disease, meaning that the deletion of this section of chromosome 7 may involve several more genes.
Further study will be required to round up all the genes deleted in this disease. The remarkable musical and verbal abilities of individuals with Williams syndrome, and their tendency to be very sociable, has lead to the suggestion that children with Williams syndrome were an inspiration for folktales and legends, as the 'wee, magical people' were often musicians and storytellers.
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