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Researchers have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused by mutations in the ADK gene, which codes for the enzyme adenosine kinase. The findings are presented in the American Journal of Human Genetics.
Karolinska Institutet (Genetica e Malattie Rare) - Mar, 4 Ottobre 2011
http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en
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The identification of three gene signatures showing a relevant overlap of pathways and ontologies,increases the likelihood of finding potential marker genes for AD.
BioMed Central (Genetica e Malattie Rare) - Lun, 29 Agosto 2011
http://www.biomedcentral.com
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In their latest study, published in the July 15, 2011, issue of Genes & Development, researchers at the Stowers Institute for Medical Research discovered that the highly conserved coactivator SAGA, best characterized for lending a helping hand during the early steps of transcriptional initiation in yeast, plays an important role in tissue-specific gene expression in fruit flies.
Eureka Alert (Genetica e Malattie Rare) - Lun, 18 Luglio 2011
http://www.eurekalert.org
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Science educators are now taking advantage of this “gaming effect” to teach biology in high schools. With the aid of Web-based programs that use dragons, high school students are learning about complex concepts and gaining an appreciation for how science is really done—all while having fun.
National Institute of General Medical Sciences (Genetica e Malattie Rare) - Lun, 11 Luglio 2011
http://www.nigms.nih.gov/
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The National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository has launched a new collection of induced pluripotent stem (iPS) cell lines that carry disease gene mutations. The five lines in the initial set were derived from individuals with Huntington’s disease, juvenile onset diabetes, severe combined immunodeficiency, muscular dystrophy and spinal muscular atrophy.
National Institute of General Medical Sciences (Genetica e Malattie Rare) - Lun, 11 Luglio 2011
http://www.nigms.nih.gov/
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Chromosome nanolithography, with a resolution beyond the resolution limit of light microscopy, could be useful to the construction of chromosome band libraries and to the molecular cytogenetic mapping related to the investigation of genetic diseases.
Journal of Nanobiotechnology (Genetica e Malattie Rare) - Lun, 4 Luglio 2011
http://www.jnanobiotechnology.com
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Recent genome-wide association (GWA) analyses have identified common single nucleotide polymorphisms (SNPs) that are associated with obesity. Now, a study identifies KCNMA1 as a new susceptibility locus for obesity, and confirms the association of the BDNF locus at the genome-wide significant level.
BioMed Central (Genetica e Malattie Rare) - Lun, 4 Luglio 2011
http://www.biomedcentral.com
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The severity of cystic fibrosis, a life-threatening hereditary condition that affects the lungs and digestive system, seems to be influenced by genetic variations, researchers have found. The study, published online in Nature Genetics, used DNA from 3,467 patients -- including unrelated patients from the Genetic Modifier Study out of the University of North Carolina at Chapel Hill, the Canadian Consortium for Genetic Studies out of the University of Toronto, and related patients and their parents from the CF Twin and Sibling Study at Johns Hopkins. The researchers were able to identify a region encompassed by two genes on chromosome 11 linked to severe cases of the disease. A second region on chromosome 20 was also identified. Continued study of this region revealed five genes that are turned on in respiratory cells, some of which are known to cause inflammation.
Medline Plus (Genetica e Malattie Rare) - Mar, 24 Maggio 2011
http://www.nlm.nih.gov/medlineplus
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Mayo Clinic researchers have designed a new tool for identifying protein function from genetic code. A team led by Stephen Ekker, Ph.D., succeeded in switching individual genes off and on in zebrafish, then observing embryonic and juvenile development. The study appears in the journal Nature Methods.
MayoClinic.com (Genetica e Malattie Rare) - Mar, 10 Maggio 2011
http://www.mayoclinic.com
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Researchers have long questioned why patients with Duchenne muscular dystrophy (DMD) tend to manage well through childhood and adolescence, yet succumb to their disease in early adulthood, or why elderly people who lose muscle strength following bed rest find it difficult or impossible to regain. Now, researchers at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health, are beginning to find answers in a specialized population of cells called satellite cells. Their findings, reported in the journal Genes & Development, suggest a potential therapeutic target for conditions where muscle deterioration threatens life or quality of life.
National Institutes of Health (Genetica e Malattie Rare) - Mar, 26 Aprile 2011
http://www.nih.gov