Inherited desmosomal diseases are characterised by skin and/or cardiac features. Dermatological features might be a clue in the determination of the underlying life-threatening cardiac disease. This article aims to propose a dermatological algori ... ...]]>
[email protected] (Journal of Medical Genetics current issue ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000
Risky business: getting a grip on BRIP
https://fcenews.it/index.php?option=com_content&view=article&id=210130:risky-business-getting-grip&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210130:risky-business-getting-grip&catid=1020:biochimica&Itemid=142
BRIP1 is one of several DNA damage response genes that have been implicated in both Fanconi Anaemia and hereditary breast and ovarian cancer. BRIP1 binds to the BRCT1 C-Terminus (BRCT) domain and functions in BRCA1-dependent DNA repair and ... ...]]>
[email protected] (Journal of Medical Genetics current issue ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
https://fcenews.it/index.php?option=com_content&view=article&id=210131:evidence-that-protein-truncating&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210131:evidence-that-protein-truncating&catid=1020:biochimica&Itemid=142
Background
BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and p ... ...]]>
[email protected] (Journal of Medical Genetics current issue ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
https://fcenews.it/index.php?option=com_content&view=article&id=210132:improving-diagnosis-broadening-phenotypes&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210132:improving-diagnosis-broadening-phenotypes&catid=1020:biochimica&Itemid=142
Background
We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay.
Methods
In 400 patients wi ... ...]]>
[email protected] (Journal of Medical Genetics current issue ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000