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Sara Tholl Halldorsdottir on Muck Rack

Sara Tholl Halldorsdottir

As seen in: BioRxiv, Cell Reports, The American Journal of Human Genetics
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Articles

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

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By Kimberley Anderson, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif A.M. Almontashiri, Brenda J. Barry, Matthias Begemann, Sarah Burke, Benjamin Cogné, Ana S.A. Cohen, Carles de Diego Boguñá, Evan E. Eichler, Elizabeth Engle, Jill A Fahrner, Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Mina Grippa, Jacqueline Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney C. Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Emily Neuhaus, Mathilde Nizon, Lenka Nosková, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel Robin, Carey Ronspies, Jasmin Roohi, Jill A. Rosenfeld, Margarita Saenz, Carol Saunders, Zornitza Stark, Isabelle Thiffault, Danita Velasco, Clara Velmans, Jolijn Verseput, Antonio Vitobello, Tianyun Wang, Karin Weiss, Ingrid M. Wentzensen, Genay O. Pilarowski, Thor Eysteinsson, Madelyn Gillentine, Kari Stefansson, Agnar Helgason, Gregory Bowman, Hans Tomas Bjornsson, Eirny Tholl Thorolfsdottir, Jacquelyn F. Britton, Meral Aktas Koptagel, Farah A. Ladha, Andreina Minicucci, Sarah Thull
| The American Journal of Human Genetics Verified
Keywords CHD1 Mendelian disease sex differences neurodevelopmental disorder Introduction Traditionally, autosomal-dominant disorders have been considered to have limited sex differences, unlike X-linked disorders defined by this feature.
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SMYD5 is a regulator of the mild hypothermia response

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By Salvor Rafnsdottir, Kijin Jang, Sara Tholl Halldorsdottir, Louma G. Laboratory
| Cell Reports Verified
Highlights • SMYD5 represses the neuroprotective gene SP1 at 37°C by depositing H3K36me3 • Mild hypothermia reduces SMYD5 levels both in vitro and in vivo • Reduction in SMYD5 levels during hypothermia occurs via proteasomal degradation • SMYD5 similarly regulates 37 other genes indicating a broader role in the response Summary The mild hypothermia response (MHR) maintains organismal homeostasis during cold exposure and is thought to be critical for the neuroprotection documented with...
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SMYD5 is a regulator of the mild hypothermia response

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By Salvor Rafnsdottir, Kijin Jang, Sara Tholl Halldorsdottir, Meghna Vinod
| BioRxiv
Abstract The mild hypothermia response (MHR) maintains organismal homeostasis during cold exposure and is thought to be critical for the neuroprotection documented with therapeutic hypothermia. To date, little is known about the transcriptional regulation of the MHR. We utilize a forward CRISPR-Cas9 mutagenesis screen to identify the histone lysine methyltransferase SMYD5 as a regulator of the MHR. SMYD5 represses the key MHR gene SP1 at euthermia.
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