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Latest Mutation Stories

2011-11-23 11:57:44

Researchers at Washington University School of Medicine in St. Louis have obtained new evidence that at least some persistent stuttering is caused by mutations in a gene governing not speech, but a metabolic pathway involved in recycling old cell parts. Beyond a simple association, the study provides the first evidence that mutations affecting cellular recycling centers called lysosomes actually play a role in causing some people to stutter. “This was extremely unexpected,”...

2011-11-15 21:15:41

Researchers have developed a new genetic screening tool that will aid in the investigation of possible treatments for patients with melanoma and the unique genetic mutations that may accompany the disease, according to data presented at the AACR-NCI-EORTC International Conference: Molecular Targets and Cancer Therapeutics, held Nov. 12-16, 2011. Heinz-Herbert Fiebig, M.D., Ph.D., associate professor of medical oncology at the University of Freiburg in Germany, presented data from 25...

2011-11-04 22:52:17

Quebec genealogical research provides clues to genetic consequences of human migration patterns Research published in Science today reveals that the first individuals settling on new land are more successful at passing on their genes than those who did not migrate. According to Dr. Damian Labuda at the University of Montréal and Sainte-Justine Hospital, the study suggests that population expansion creates opportunities for natural selection to act. The findings come from the...

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...


Word of the Day
mundungus
  • A stinking tobacco.
  • Offal; waste animal product; organic matter unfit for consumption.
This word comes from the Spanish 'mondongo,' tripe, entrails.