Mutations linked to genetic disorders shed light on a crucial DNA repair pathway
Researchers have identified two new genes in which mutations can interfere with a cell's ability to remove misplaced links between DNA strands, and, as a result, cause a rare genetic disorder known as Fanconi anemia. These discoveries offer new insight on a repair process critical to maintaining certain tissues and preventing cancer. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - August 8, 2015 Category: Science Source Type: news
Mutations linked to genetic disorders shed light on a crucial DNA repair pathway
Researchers have identified two new genes in which mutations can interfere with a cell's ability to remove misplaced links between DNA strands, and, as a result, cause a rare genetic disorder known as Fanconi anemia. These discoveries offer new insight on a repair process critical to maintaining certain tissues and preventing cancer. More » (Source: The Rockefeller University Newswire)
Source: The Rockefeller University Newswire - August 7, 2015 Category: Biomedical Science Authors: pubaff Tags: Science News Agata Smogorzewska cell division DNA repair Fanconi anemia interstrand crosslinks Laboratory of Genome Maintenance RAD51 UBE2T Source Type: news
Mutations linked to genetic disorders shed light on a crucial DNA repair pathway
(Rockefeller University) Researchers have identified two new genes in which mutations can interfere with a cell's ability to remove misplaced links between DNA strands, and, as a result, cause a rare genetic disorder known as Fanconi anemia. These discoveries offer new insight on a repair process critical to maintaining certain tissues and preventing cancer. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - August 7, 2015 Category: Biology Source Type: news
Revised Article-Fanconi Anemia
Fanconi anemia, or FA, is a rare, inherited blood disorder that leads to bone marrow failure. (Source: National Heart, Lung, and Blood Institute Health Topics)
Source: National Heart, Lung, and Blood Institute Health Topics - October 27, 2014 Category: Consumer Health News Source Type: news
Drug used for DNA repair defects could treat leukemia, other cancers more effectively
In this study, the research team also showed the link between the RUNX family genes and the pathway of a rare human congenital disease called Fanconi anemia for the first time. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - August 25, 2014 Category: Science Source Type: news
What Causes Proteinuria?
Discussion
Proteinuria occurs relatively often in pediatric practice with 5-15% of school children having transient proteinuria, the most common cause. However, proteinuria can be a sign of kidney disease. Therefore, it is important to evaluate the proteinuria in light of the clinical situation. A good history and physical examination along with a full urinalysis and/or BUN and creatinine, or urine protein/creatinine ratio may be all that is necessary. Another patient with edema, hypertension or hematuria needs a fuller evaluation and treatment. Proteinuria is usually categorized into three groups to assist with evaluation...
Source: PediatricEducation.org - August 18, 2014 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Ready for a win against Fanconi Anemia
As Florida State gears up to play Auburn in the BCS National Championship Game, head coach Jimbo Fisher is fighting an even tougher opponent off the field in hopes of saving his son. (Source: CNN.com - Health)
Source: CNN.com - Health - January 2, 2014 Category: Consumer Health News Source Type: news
FSU coach's son battles rare blood disorder
You'd never guess from looking at Ethan Fisher that he has Fanconi Anemia, a rare blood disorder that may one day kill him. (Source: WDSU.com - Health)
Source: WDSU.com - Health - January 2, 2014 Category: Consumer Health News Source Type: news
Three Different Diseases Controlled By One Gene
An international research consortium led by the Universitat Autonoma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending on how it is altered. The researchers, using next-generation massive ultrasequencing techniques, have sequenced the over 20,000 genes of a Fanconi anaemia patient's genome... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - April 29, 2013 Category: Consumer Health News Tags: Blood / Hematology Source Type: news
Discovery of a gene that controls 3 different diseases
(Universitat Autonoma de Barcelona) A research consortium led by the Universitat Autònoma de Barcelona has identified a single gene, ERCC4, that can be involved in three human diseases depending on which type of mutation it presents: Fanconi anaemia, xeroderma pigmentosum, or a type of progeria. The consortium's findings add to existing knowledge of two DNA repair activities that are important in maintaining the stability of our genes and preventing cancer in the general population. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 25, 2013 Category: Global & Universal Source Type: news
