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Last updated on April 18, 2014 at 21:21 EDT

Latest Mutation Stories

Skin Cancer Threat May Be Less During The Morning Hours
2011-10-25 04:30:07

A new study, published in the Proceedings of the National Academy of Sciences suggests that exposure to ultraviolet (UV) rays in the morning hours may be less harmful than the sun´s ray´s in the afternoon. The study, performed on mice because they have a similar circadian rhythm to humans only opposite, found that mice exposed to UV radiation at 4 am had a 500 percent increase in the incidence of skin cancer than those exposed to UV radiation at 4pm. Since the 24 hour...

2011-10-14 09:42:18

Human genes are preferentially encoded by codons that are less likely to be mistranscribed (or "misread") into a STOP codon. This finding by Brian Cusack and colleagues from the Max Planck Institute for Molecular Genetics in Berlin and the CNRS in Lyon and Paris is published in the open-access journal PLoS Genetics on October 13th, 2011. Since the completion of the human genome sequence over a decade ago, a multitude of studies have investigated the forces that have shaped the genome over...

2011-10-11 20:28:33

Reported in a new study in the Journal of Molecular Diagnostics Molecular DNA testing methods offer clinicians powerful tools that serve to confirm or identify disease diagnoses. High sensitivity and high specificity, however, are frequently a challenge to achieve with these methods. In a study scheduled for publication in the November issue of The Journal of Molecular Diagnostics, researchers describe a new, robust technique that holds promise for identifying trace mutant DNA sequences...

2011-10-07 13:34:51

The study, led by the ENERCA member professor Achille Iolascon, was recently published in the American Journal of Hematology Many of you might know that Congenital Dyserythropoietic Anemia type II (CDA II) is a rare blood disorder, due to a failure in final part of erythropoiesis. What will surprise you is the fact that some mutations responsible for the disease can be tracked 3.000 years back. A study led by the ENERCA member Prof. Achille Iolascon, from CEINGE Advanced Biotechnologies...

2011-10-05 12:25:09

When cells divide normally, DNA gets copied perfectly and distributed among the daughter cells with an even hand. Occasionally though, DNA breaks during division and is rearranged, resulting in duplications or deletions of important parts of the blueprint. Now researchers at Baylor College of Medicine who study families with such genomic disorders have found a shared, yet unusual, architecture resulting from this jumble that is associated with very severe forms of disease. They also...

2011-10-04 10:16:18

Chromosomal abnormalities linked to intellectual disability can be traced back to the father, particularly those who are older when the child is conceived, finds research published online in the Journal of Medical Genetics. Chromosomal abnormalities are caused by copy number variations, or CNVs. These are structural variations resulting in missing, repeated, inverted or misplaced DNA sequences in cells. They can be inherited or arise anew, and are a common cause of disease. However,...

2011-10-03 15:45:04

When cells divide normally, DNA gets copied perfectly and distributed among the daughter cells with an even hand. Occasionally though, DNA breaks during division and is rearranged, resulting in duplications or deletions of important parts of the blueprint. Now researchers at Baylor College of Medicine who study families with such genomic disorders have found a shared, yet unusual, architecture resulting from this jumble that is associated with very severe forms of disease. They also...

2011-10-03 05:47:57

(Ivanhoe Newswire) -- Type 1 diabetes affects 200 million people worldwide. Now, researchers have discovered new genes that will help them better understand the origin of this complex disorder. In a study published online today in Public Library of Science Genetics (PLoS Genetics), two doctors described their findings. The genes were uncovered during the largest-ever analysis of available genetic data related to type 1 diabetes, a process called meta-analysis. Study leader Hakon...

2011-09-27 15:15:12

Clemson University researchers recently reported finding a new class of DNA repair-makers. Clemson biochemist Weiguo Cao studies how cells repair damaged DNA. The finding from Cao's lab in the Clemson Biosystems Research Complex in collaboration with computational chemist Brian Dominy appeared in the Sept. 9 issue of The Journal of Biological Chemistry: "A new family of deamination repair enzymes in the uracil DNA glycosylase superfamily by Hyun-Wook Lee, Brian N. Dominy and Weiguo Cao."...

2011-09-27 13:20:42

New genetic insights could facilitate screening for mutation A genomic study of chronic blood cancer - a precursor to leukaemia - has discovered gene mutations that could enable diagnosis using only a blood test, avoiding the need for an invasive and painful bone marrow biopsy. Researchers at the Wellcome Trust Sanger Institute identified the SF3B1 gene as being frequently mutated in myelodysplasia, one of the most common forms of blood cancer. Myelodysplasia is particularly prevalent...