Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease

Autor: Christopher J. Minnis, StJohn Townsend, Julia Petschnigg, Elisa Tinelli, Jürg Bähler, Claire Russell, Sara E. Mole

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

Abstract Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disorder, with most patients homozygous for a 1-kb intragenic deletion in CLN3. The btn1 gene is the Schizosaccharomyces pombe orthologue of CLN3. Here, we have ex

Externí odkaz: https://doaj.org/article/6527e4bac2b54420a484033fbe621105

Thunderstorm‐related asthma can occur in New Zealand

Autor: Ayan Sabih, Claire Russell, Catherina L. Chang

Publikováno v: Respirology Case Reports, Vol 8, Iss 7, Pp n/a-n/a (2020)

Abstract Thunderstorm asthma is induced by specific weather conditions causing breakdown and widespread distribution of allergens. Thunderstorm asthma had previously been considered unlikely to occur in New Zealand (NZ), given its local weather patte

Externí odkaz: https://doaj.org/article/b17d45168b674cb8885457e40418bf6e

Author Correction: Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease

Autor: Julia Petschnigg, Jürg Bähler, Claire Russell, StJohn Townsend, Sara E. Mole, Elisa Tinelli, Christopher J. Minnis

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-3 (2021)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b5009fbdc84f9a4998086ca4b7794da
https://doaj.org/article/96da108b24f34e5ca18dd0cb24c426b5

A Founder Mutation in

Autor: Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth

Publikováno v: J Am Soc Nephrol
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, Limm, K, Oefner, P, Witzgall, R, Fu, L, Theilig, F, Schilling, A, Shuster Biton, E, Kalfon, L, Fedida, A, Arnon-Sheleg, E, Ben Izhak, O, Magen, D, Anikster, Y, Schulze, H, Ziegler, C, Lowe, M, Davies, B, Böckenhauer, D, Kleta, R, Falik Zaccai, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312

BACKGROUND: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understoo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d86b9e766f0d768e9b5bfddd01c006
https://pubmed.ncbi.nlm.nih.gov/35256404

Self-harm prevalence and ideation in a community sample of cis, trans and other youth

Autor: Richard Joiner, Aaron Bowes, Veronica Roberts, Richard Bradley, Mark Bowles, Claire Russell, Catherine Butler

Publikováno v: Butler, C, Joiner, R, Bradley, R, Bowles, M, Bowes, A, Russell, C & Roberts, V 2019, ' Self-harm prevalence and ideation in a community sample of cis, trans and other youth ', International Journal of Transgenderism, vol. 20, no. 4, pp. 447-458 . https://doi.org/10.1080/15532739.2019.1614130, https://doi.org/10.1080/15532739.2019.1614130
Int J Transgend

Background: Trans youth have been reported to have high rates of self-harm, depression and bullying, and find it difficult to seek support. However, much of this research comes from gender identity clinics; non-clinical samples and those who reject g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e505e5a8061733e02274d688c6d11f9b
https://doi.org/10.1080/15532739.2019.1614130