HUTCHINSON-GILFORD SYNDROME

submitted by: camdic

Recent studies suggest that, as in other aging syndromes, the Hutchinson-Gilford syndrome is due at to a defect in the mechanism of DNA repair. Mutations have been found in the Lamin A gene (LMNA) situated on chromosome 1.

LASSUEUR PICCARDI GRAHAM LITTLE Syndrome.

submitted by: camdic

A rare disease in which cicatricial (scarring) alopecia of the scalp is associated with widepsread keratosis pilaris particularly in the axillae and pubic area where scarring does not usually occur. The scarring in the scalp may be clinically indistinguishable from the end stage of other forms of scarring hair loss.(Abstract) Prof. Camillo O. Di Cicco,MD

Dynamic Remodeling of Individual Nucleosomes Across a Eukaryotic Genome in Response to Transcriptional Perturbation

submitted by: akshayb
The eukaryotic genome is packaged as chromatin with nucleosomes comprising its basic structural unit, but the detailed structure of chromatin and its dynamic remodeling in terms of individual nucleosome positions has not been completely defined experimentally for any genome. We used ultra-high–throughput sequencing to map the remodeling of individual nucleosomes throughout the yeast genome before and after a physiological perturbation that causes genome-wide transcriptional changes....
Authors: Sushma Shivaswamy, Akshay Bhinge, Yongjun Zhao, Steven Jones, Martin Hirst, Vishwanath r Iyer

Moby, Legacy Apps and the Semantic Web

submitted by: nodrogluap
[Note: poor video quality lasts only for the first 30 seconds] Presentation given at the Web Services Biohackathon '08 in Tokyo, Japan 2008-02-11. It describes tools for using and providing interoperable bioinformatics Web services. This presentation followed another one outlining the (Bio)Moby protocol and its usage, see www.biomoby.org for more information. Presenter: Paul Gordon .

MELANOMA THERMOGRAPHY

submitted by: camdic

Thermography allows the investigator to create a 3 dimensional image based on infrared emissions from tissue. Warmer tissues show up as yellow and white, whereas darker colors represent cooler structures. Malignant tumors are metabolically active and appear yellow and white on the images.
Metastatic melanoma in left inguinal lymphonodes - metastatic melanoma in left leg -
Prof. Camillo O. Di Cicco, MD

Aberrant mucin assembly in mice causes endoplasmic reticulum stress and spontaneous inflammation resembling ulcerative colitis

submitted by: mmcguckin
Background MUC2 mucin produced by intestinal goblet cells is the major component of the intestinal mucus barrier. The inflammatory bowel disease ulcerative colitis is characterized by depleted goblet cells and a reduced mucus layer, but the aetiology remains obscure. In this study we used random mutagenesis to produce two murine models of inflammatory bowel disease, characterised the basis and nature of the inflammation in these mice, and compared the pathology with human ulcerative colitis....
Authors: Heazlewood CK, Cook MC, Eri R, Price G, Tauro S, Taupin D, Thornton DJ, Png CW, Crockford TL, Cornall, RJ, Adams R, Kato M, Nelms KA, Hong NA, Florin THJ, Goodnow CC, McGuckin MA