IsSIGMAR1a confirmed FTD/MND gene?

PTPN22: a confirmed rheumatoid arthritis susceptibility gene?

Barber‐say syndrome: a confirmed case of TWIST2 gene mutation

Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.

Reply: Is SIGMAR1 a confirmed FTD/MND gene?

1 Neurodegenerative Studies Laboratory, Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland 2 Department of Medical Genetics, University of Lausanne, CH-1005 Lausanne, Switzerland 3 Institute of Neuropathology, Uniklinik-RWTH Aachen University, 52074 Aachen, Germany 4 Department of Neuroscience and Department of Clinical Neuroscience, Karolinska ...

First Polish Cowden syndrome patient with confirmed PTEN gene mutation

Cowden syndrome is a rare hereditary disease. Incidence of the disease is conditioned by occurrence of mutations in the PTEN gene. The disease has a frequency of 1/120,000 newborn and it predisposes to the occurrence of hamartoma polyps in the gastrointestinal tract, skin tumours, as well as tumours of the breast, ovary and thyroid. Here we describe the case of a Polish patient diagnosed with C...

Damage confirmed

Are better drugs just a click away? Drugs that show promise in preclinical models often fail in the clinic, in part because of limited information on drug localization within cells and across tissues. In a proof-of-concept study, Tyler et al. applied click chemistry methods to study the localization of bromodomain inhibitors. These are cancer drugs that alter chromatin structure and gene expres...