Target Sequencing approach intended to discover new mutations in Non-Syndromic Intellectual Disability
Publication date: Available online 10 September 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Anna Morgan, Ilaria Gandin, Chiara Belcaro, Pietro Palumbo, Orazio Palumbo, Elisa Biamino, Valentina Dal Col, Erik Laurini, Sabrina Pricl, Paolo Bosco, Massimo Carella, Giovanni Battista Ferrero, Corrado Romano, Adamo Pio d’Adamo, Flavio Faletra, Diego Vozzi The technological improvements over the last years made considerable progresses in the knowledge of the etiology of Intellectual Disability (ID). However at present very little is known about ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 12, 2015 Category: Cytology Source Type: research

A new practical guide to the Luria–Delbrück protocol
Publication date: November 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 781 Author(s): Qi Zheng Since 2000 several review papers have been published about the analysis of experimental data obtained using the Luria–Delbrück protocol. These timely papers cleared much of the confusion surrounding various methods for estimating or comparing mutation rates. As a result, today the fluctuation test is more widely applied with much improved accuracy. The present paper provides guidelines on a few remaining problems that continue to baffle mutation researchers. Among the issues ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 12, 2015 Category: Cytology Source Type: research

Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia
Publication date: Available online 30 August 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Daman Kumari, Bruce Hayward, Asako J. Nakamura, William M. Bonner, Karen Usdin Friedreich ataxia (FRDA) is a member of the Repeat Expansion Diseases, a group of genetic conditions resulting from an increase/expansion in the size of a specific tandem array. FRDA results from expansion of a GAA/TTC-tract in the first intron of the frataxin gene (FXN). The disease-associated tandem repeats all form secondary structures that are thought to contribute to the propensity of the re...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 31, 2015 Category: Cytology Source Type: research

A new practical guide to the Luria-Delbrück protocol
Publication date: Available online 28 August 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Qi Zheng Since 2000 several review papers have been published about the analysis of experimental data obtained using the Luria-Delbrück protocol. These timely papers cleared much of the confusion surrounding various methods for estimating or comparing mutation rates. As a result, today the fluctuation test is more widely applied with much improved accuracy. The present paper provides guidelines on a few remaining problems that continue to baffle mutation researchers. Among the iss...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 30, 2015 Category: Cytology Source Type: research

Genetic alterations in periprosthetic soft-tissue masses from patients with metal-on-metal hip replacement
Publication date: Available online 29 August 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Virinder Kaur Sarhadi, Jyrki Parkkinen, Aleksi Reito, Jyrki Nieminen, Noora Porkka, Tiina Wirtanen, Minna Laitinen, Antti Eskelinen, Sakari Knuutila Adverse soft tissue reactions in patients with metal-on-metal (MoM) hip replacement are associated with cobalt (Co) and chromium (Cr) particles released from the implant. Exposing the patients to long periods of increased metal ions concentrations resulting from the wear of these implants poses an increased risk of geno...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 30, 2015 Category: Cytology Source Type: research