FCE News https://fcenews.it/index.php?option=com_content&view=category&id=1020&layout=blog&Itemid=142 Tue, 21 Jun 2016 23:56:27 +0000 Joomla! 1.5 - Open Source Content Management it-it Why fraternal twins run in families https://fcenews.it/index.php?option=com_content&view=article&id=210123:fraternal-twins-families&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210123:fraternal-twins-families&catid=1020:biochimica&Itemid=142 If a woman's female relatives have fraternal twins, she is more likely to give birth to twins herself, but the genes behind this phenomenon have remained a mystery. ... ...]]> [email protected] (Genetics News From Medical News Today ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000 First small molecule targeted therapy to mitigate hearing loss in Usher syndrome type 3 https://fcenews.it/index.php?option=com_content&view=article&id=210124:first-small-molecule-targeted&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210124:first-small-molecule-targeted&catid=1020:biochimica&Itemid=142 Usher syndrome (USH) is characterized by hearing loss or deafness at birth and progressive vision loss, and is the most common cause of inherited dual sensory deficit. ... ...]]> [email protected] (Genetics News From Medical News Today ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000 Chemists use DNA to build the world's tiniest thermometer https://fcenews.it/index.php?option=com_content&view=article&id=210125:chemists-build-world-tiniest&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210125:chemists-build-world-tiniest&catid=1020:biochimica&Itemid=142 Researchers at University of Montreal have created a programmable DNA thermometer that is 20,000x smaller than a human hair. ... ...]]> [email protected] (Genetics News From Medical News Today ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000 What's missing from current methods for genetic screening of sperm donors https://fcenews.it/index.php?option=com_content&view=article&id=210126:what-missing-from-current&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210126:what-missing-from-current&catid=1020:biochimica&Itemid=142 U.S. sperm banks perform genetic testing to screen for and disqualify carriers of a limited number of recessive disease mutations, but more comprehensive and affordable DNA-based screening methods... ... ...]]> [email protected] (Genetics News From Medical News Today ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000 AlizĂ© Pharma reports positive results from its Phase II clinical trial of AZP-531 in Prader-Willi Syndrome https://fcenews.it/index.php?option=com_content&view=article&id=210127:aliz-pharma-reports-positive&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210127:aliz-pharma-reports-positive&catid=1020:biochimica&Itemid=142 Results from the randomized, double blind and placebo-controlled Phase II trial show significant improvements in hyperphagia-related behavior, a key therapeutic objective in Prader-Willi Syndrome. ... ...]]> [email protected] (Genetics News From Medical News Today ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000 20 year-old puzzle solved through genetic advances: A genetic corneal dystrophy disorder https://fcenews.it/index.php?option=com_content&view=article&id=210128:year-puzzle-solved-through&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210128:year-puzzle-solved-through&catid=1020:biochimica&Itemid=142 Researchers from the University of Liverpool have identified a specific gene that plays a key role in an inherited eye disorder. ... ...]]> [email protected] (Genetics News From Medical News Today ) Biochimica Fri, 29 Apr 2016 08:00:00 +0000 Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases https://fcenews.it/index.php?option=com_content&view=article&id=210129:combination-palmoplantar-keratoderma-hair&catid=1020:biochimica&Itemid=142 https://fcenews.it/index.php?option=com_content&view=article&id=210129:combination-palmoplantar-keratoderma-hair&catid=1020:biochimica&Itemid=142

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