Congrats to @KijinJang on this very cool story now available as a preprint:
SARAF represses the mild hypothermia response through the regulation of JUN https://t.co/BKUDfmxHaf
@SaraTholl, @BjornssonL & co use a #MouseModel to understand the impact of missense variants on KMT2D function and uncover developmental and perinatal abnormalities in Kabuki syndrome type 1.
Read and share this article for free: https://t.co/YrLQOxCYJw
Our paper on Pilarowski-Björnsson syndrome is out in AJHG! We show that male sex hormones, including #testosterone, may protect against some phenotypes. Sex differences may also extend to other autosomal genetic disorders.
@BjornssonL https://t.co/SKG6aQNinm
@KijinJang Together, these findings identify SARAF as a new repressor of the MHR and point toward calcium signaling and JUN as very early components of this response.
Congrats again to @KijinJang on a beautiful piece of work!
Congrats to @KijinJang on this very cool story now available as a preprint:
SARAF represses the mild hypothermia response through the regulation of JUN https://t.co/BKUDfmxHaf
@KijinJang Our working model is that SARAF acts upstream of JUN, potentially through its effects on cytoplasmic calcium, with JUN then helping regulate the downstream MHR.
This begins to give us a temporal and regulatory hierarchy for how cells respond to mild reductions in temperature.
Samantekt frá HÍ um nýja grein sem var að koma út í American Journal of Human Genetics: Karlhormón virðast vernda gegn áhrifum sjaldgæfs erfðasjúkdóms https://t.co/tgC7zzuN1N
til hamingju @Kimberley1A sem er nýr lektor hjá @Haskolinn_Ak og Eirný Þöll Þórólfsdóttir hjá Landspítala. Hér er greinin sjálf: https://t.co/MJT5uNML9K
Together with @BjornssonL (and Kasper Hansen, and others) we have spent many years thinking about the molecular basis of Mendelian disorders caused by variants in chromatin regulators.
We have just published a review where we discuss our thoughts: https://t.co/LrGn9nYZjN
We are recruiting a PhD student!!! Deadline for applications is June 16th 2026. Please share with your network and feel free to reach out with questions ([email protected])
PhD position in human genetics https://t.co/oSY2TFW4Si
Congrats @SaraTholl and @AgnesUlfig and Stefán Pétursson on a really cool pre-print suggesting that dysregulated ROS production drives some disease phenotypes in Kabuki syndrome!!! https://t.co/1acZDBLrEi