University of St Andrews Research: Recent submissions

Now showing items 21-25 of 20977

    • Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A 

      Almaas, Runar; Atneosen-Åsegg, Monica; Ytre-Arne, Mari Eknes; Melheim, Maria; Sorte, Hanne Sørmo; Cízková, Dana; Reims, Henrik Mikael; Bezrouk, Aleš; Harrison, Sean Philip; Strand, Janne; Hermansen, Johanne Uthus; Andersen, Sofie Strøm; Eiklid, Kristin Louise; Mokrý, Jaroslav; Sullivan, Gareth John; Stray-Pedersen, Asbjørg (2023-10-01) - Journal article
      Background & Aims Lymphedema cholestasis syndrome 1 or Aagenaes syndrome is a condition characterized by neonatal cholestasis, lymphedema, and giant cell hepatitis. The genetic background of this autosomal recessive disease ...

    • A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment 

      Lin, Xiaolin; Wang, Wei; Yang, Mingyi; Damseh, Nadirah; de Sousa, Mirta Mittelstedt Leal; Jacob, Fadi; Lång, Anna; Kristiansen, Elise; Pannone, Marco; Kissova, Miroslava; Almaas, Runar; Kuśnierczyk, Anna; Siller, Richard; Shahrour, Maher; Al-Ashhab, Motee; Abu-Libdeh, Bassam; Tang, Wannan; Slupphaug, Geir; Elpeleg, Orly; Bøe, Stig Ove; Eide, Lars; Sullivan, Gareth J.; Rinholm, Johanne Egge; Song, Hongjun; Ming, Guo-Li; van Loon, Barbara; Edvardson, Simon; Ye, Jing; Bjørås, Magnar (2023-12-01) - Journal article
      Background Oxidation Resistance 1 (OXR1) gene is a highly conserved gene of the TLDc domain-containing family. OXR1 is involved in fundamental biological and cellular processes, including DNA damage response, antioxidant ...

    • Cultural analytics in the UK : events data potential for the creative and cultural industries 

      Black , Suzanne R.; Filgueira, Rosa; McAra, Lesley; Miles, Brendan; Terras, Melissa; Parsons, Mark (2024-01-01) - Journal article
      This article investigates the potential for novel research utilising data generated by the Creative and Cultural Industries (CCI) in the UK, focussing on the long tail of metadata associated with the UK’s rich cultural ...

    • A1 is induced by pathogen ligands to limit myeloid cell death and NLRP3 inflammasome activation 

      Speir, Mary; Tye, Hazel; Gottschalk, Timothy A.; Simpson, Daniel S.; Djajawi, Tirta M.; Deo, Pankaj; Ambrose, Rebecca L.; Conos, Stephanie A.; Emery, Jack; Abraham, Gilu; Pascoe, Ashlyn; Hughes, Sebastian A.; Weir, Ashley; Hawkins, Edwin D.; Kong, Isabella; Herold, Marco J.; Pearson, Jaclyn S.; Lalaoui, Najoua; Naderer, Thomas; Vince, James E.; Lawlor, Kate E. (2023-11-06) - Journal article
      Programmed cell death pathways play an important role in innate immune responses to infection. Activation of intrinsic apoptosis promotes infected cell clearance; however, comparatively little is known about how this mode ...

    • A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation 

      Garnish, Sarah E.; Martin, Katherine R.; Kauppi, Maria; Jackson, Victoria E.; Ambrose, Rebecca; Eng, Vik Ven; Chiou, Shene; Meng, Yanxiang; Frank, Daniel; Tovey Crutchfield, Emma C.; Patel, Komal M.; Jacobsen, Annette V.; Atkin-Smith, Georgia K.; Di Rago, Ladina; Doerflinger, Marcel; Horne, Christopher R.; Hall, Cathrine; Young, Samuel N.; Cook, Matthew; Athanasopoulos, Vicki; Vinuesa, Carola G.; Lawlor, Kate E.; Wicks, Ian P.; Ebert, Gregor; Ng, Ashley P.; Slade, Charlotte A.; Pearson, Jaclyn S.; Samson, André L.; Silke, John; Murphy, James M.; Hildebrand, Joanne M. (2023-09-28) - Journal article
      Across the globe, 2-3% of humans carry the p.Ser132Pro single nucleotide polymorphism in MLKL, the terminal effector protein of the inflammatory form of programmed cell death, necroptosis. Here we show that this substitution ...