20 November 2018

Ellen van den Bogaard (first author), theme Inflammatory diseases, and Patrick Zeeuwen (last author), theme Infectious diseases and global health, report the first family with cystatin M/E deficiency in Genetics in Medicine.

Ellen van den Bogaard
Patrick Zeeuwen

Their previous genetic studies in mice and in vitro biochemical studies using human enzymes and inhibitors have provided information on the role of the human cysteine protease inhibitor cystatin M/E, encoded by the CTS6 gene, in epidermal cornification and maintenance of hair follicle integrity. Recently they have identified a new autosomal-recessive hypotrichosis syndrome caused by a loss-of-function mutation in the CST6 gene. These findings support the importance of protease-antiprotease balance in the regulation of epidermal and hair follicle homeostasis.

This paper is freely available at: link.

 

Related news items


RIHS vlog Looking back on a successful Open Day

23 October 2019

"It was a busy day and great fun!" our reporters Esther and Evie said. "Anyone could be a health scientist for one day".

read more

Awardees RIHS Junior Researcher round 2020

23 October 2019

Recently, RIHS held an internal call for Radboudumc junior researcher (PhD) positions. This year 6 positions have been awarded.

read more

Two projects granted for experimental Rheumatology

22 October 2019

Osteoarthritis is the most prevalent and debilitating joint disease worldwide but no cure has been developed yet. Recent findings show that low grade inflammation within the OA joint contributes to the pathophysiology and clinical symptoms.

read more

Radboud Bioinformatics Xmas event 16 December

21 October 2019

The CMBI is organizing the event of the year for all bioinformaticians throughout Radboud University and Radboudumc to give you the opportunity to bring forward the biggest challenges in your research to expert bioinformaticians and pave the way for real solutions.

read more

PhD Networking Days 9 & 10 January 2020 in Milan

21 October 2019

A limited number of places is available at the PhD Retreat of a research institute in Milan. Travel costs and participation costs are paid for!

read more

Merel Ritskes-Hoitinga has been appointed honorary Skou professor at Aarhus University

17 October 2019

Merel Ritskes-Hoitinga has been appointed honorary Skou Professor at the Dept. of Clinical Medicine, at Aarhus University. The aim is to introduce new perspectives to teaching, strengthen relations with leading research units abroad and establish joint research projects and funding applications.

read more