Towards understanding the impact of sarcomeric gene mutations.
نویسنده
چکیده
*Editori necessar From North C of this p With this profound new knowledge, humankind is on the verge of gaining immense, new power to heal. Genome science will have a real impact on all our livesdand even more, on the lives of our children. It will revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases. dPresident Bill Clinton during the announcement of the completion of the draft sequences of the human genome, June 26, 2000 (1)
منابع مشابه
Computational approach towards identification of pathogenic missense mutations in AMELX gene and their possible association with amelogenesis imperfecta
Amelogenin gene (AMEL-X) encodes an enamel protein called amelogenin, which plays a vital role in tooth development. Any mutations in this gene or the associated pathway lead to developmental abnormalities of the tooth. The present study aims to analyze functional missense mutations in AMEL-X genes and derive an association with amelogenesis imperfecta. The information on miss...
متن کاملI-34: NRY Haplotype Analysis: towards A Better Understanding of The Genetic Basis of Spermatogenic Failure
It has been established that the Y chromosome carries genes required for spermatogenesis and male fertility. For many decades worldwide screening for gene identification has been conducted in research laboratories. However, it has been a difficult process in identifying such genes (i.e. causative mutations) which could explain the phenotypic variation and could be potentially used as markers fo...
متن کاملImpact of SULF1 Gene on Angiogenesis
Single-gene disorders occur when mutation in a gene causing alteration of gene function while in multifactorial disorders, mutations occur in multiple genes, and these are usually coupled with environmental causes. In addition, in a multifactorial disorder such as diabetes, the complication is under the influence of different genes. For example, in diabetic retinopathy many genes are involved i...
متن کاملDetection of P 53 gene mutations in exons 5 and 8 in patients of familial breast cancer with PCR-SSCP methode.
Background: Breast cancer is one of the most common cancer of women in the world. Although different genetic alteration has been reported in this malignancy, but P 53 gene mutations has more frequency. P 53 gene is one of the most important suppressor genes and it play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...
متن کاملCardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects
Secundum-type atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD) and are associated with a familial risk. Mutations in transcription factors represent a genetic source for ASDII. Yet, little is known about the role of mutations in sarcomeric genes in ASDII etiology. To assess the role of sarcomeric genes in patients with inherited ASDII, we analyze...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- JACC. Heart failure
دوره 1 6 شماره
صفحات -
تاریخ انتشار 2013