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Items: 5

1.
Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro-fibrotic and immune cell responses
Yuefang Zhou, Thomas M. Bennett, Alan Shiels
FASEB J. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: FASEB J. 2021 Feb; 35(2): e21288. doi: 10.1096/fj.202002037R
PMCID:
PMC7891105
AbstractArticlePDF–4.8M
2.
Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms
Siyuan Zhao, Yevgen Yudin, Tibor Rohacs
eLife. 2020; 9: e55634. Published online 2020 Apr 28. doi: 10.7554/eLife.55634
PMCID:
PMC7255801
AbstractArticlePDF–1.2M
3.
Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy
Evelien Van Hoeymissen, Katharina Held, Ana Cristina Nogueira Freitas, Annelies Janssens, Thomas Voets, Joris Vriens
eLife. 2020; 9: e57190. Published online 2020 May 19. doi: 10.7554/eLife.57190
PMCID:
PMC7253177
AbstractArticlePDF–1.2M
4.
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines
Eur J Hum Genet. 2019 Oct; 27(10): 1611–1618. Published online 2019 Jul 5. doi: 10.1038/s41431-019-0462-x
PMCID:
PMC6777445
AbstractArticlePDF–1.4M
5.
Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma
Thomas M. Bennett, Donna S. Mackay, Carla J. Siegfried, Alan Shiels
PLoS One. 2014; 9(8): e104000. Published online 2014 Aug 4. doi: 10.1371/journal.pone.0104000
PMCID:
PMC4121231
AbstractArticlePDF–2.0M

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