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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. Furthermore, a mouse model overexpressing FRG1 has been generated, displaying skeletal muscle defects.
Pubmed ID: 19607661 RIS Download
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Since 1990 Telethon, along with millions of Italians, has stepped up to the challenge of beating muscular dystrophy and the other genetic diseases. It is a marathon against time, because there are many people who live with these rare disorders, and the resources to deal with them have to be carefully measured out because there is not much public or private funding invested in this field of research, and the path to finding cures is often long and tortuous. The foundation In order to guarantee as much research funding as possible into muscular dystrophy and other genetic diseases, the Telethon team works throughout the year and has adopted a management system for the donated funds that is strict and efficient. For every euro raised by Telethon, about eighty euro cents reach the cutting edge laboratories and excellent research centers. Scientific area The selection of the best research projects, the funding of dedicated researchers and the foundation and maintenance of its research institutes make Telethon a point of Italian excellence in the world. Along with recognition from the international scientific community, Telethon's world of research is the biggest ally of all the people who live with muscular dystrophy or other genetic disorders every day. The online database provides complete information about the projects funded by Telethon from 1991 to the present. The archive contains information about all the Foundation's efforts in the field of biomedical research. In addition to a search by disease, it is possible, using the advanced search function, to interrogate the database by groups of disorders, by the name of a researcher or research institute, or by the town, province, or region where projects are based. The use of another search filter makes it possible to check which research projects are ongoing and which have come to an end.
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