Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Stormorken syndrome"'
Autor:
Laura Pérez-Guàrdia, Emma Lafabrie, Nadège Diedhiou, Coralie Spiegelhalter, Jocelyn Laporte, Johann Böhm
Publikováno v:
Cells, Vol 13, Iss 22, p 1829 (2024)
Store-operated Ca2+ entry (SOCE) controls Ca2+ homeostasis and mediates multiple Ca2+-dependent signaling pathways and cellular processes. It relies on the concerted activity of the reticular Ca2+ sensor STIM1 and the plasma membrane Ca2+ channel ORA
Externí odkaz:
https://doaj.org/article/433bc148b6a54aa5a066d77dc9c3a24e
Akademický článek
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Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype.Methods: We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome b
Externí odkaz:
https://doaj.org/article/494360c88f3a48939dd447ead95221c3
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Lengle, Emma Joanna
Publikováno v:
Lengle, Emma Joanna. Muscle fiber type expression and degeneration in Stim1 R304W murine skeletal muscle. Master thesis, University of Oslo, 2020
Externí odkaz:
http://hdl.handle.net/10852/76133
https://www.duo.uio.no/bitstream/handle/10852/76133/1/Prosjektoppgave-Emma-Lengle-14-02-2020.pdf
https://www.duo.uio.no/bitstream/handle/10852/76133/1/Prosjektoppgave-Emma-Lengle-14-02-2020.pdf
Autor:
Oscar Borsani, Daniela Piga, Stefania Costa, Alessandra Govoni, Francesca Magri, Andrea Artoni, Claudia M. Cinnante, Gigliola Fagiolari, Patrizia Ciscato, Maurizio Moggio, Nereo Bresolin, Giacomo P. Comi, Stefania Corti
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mi
Externí odkaz:
https://doaj.org/article/4bf1949bc0f34adeaba00c836f0b3e81
Autor:
Roberto Silva-Rojas, Laura Pérez-Guàrdia, Emma Lafabrie, David Moulaert, Jocelyn Laporte, Johann Böhm
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 6968
International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (13), pp.6968. ⟨10.3390/ijms23136968⟩
International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (13), pp.6968. ⟨10.3390/ijms23136968⟩
International audience; Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) form a clinical continuum associating progressive muscle weakness with additional multi-systemic anomalies of the bones, skin, spleen, and platelets. TAM/STRMK a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f365a6107ff35de5d011cdad8a3d0131
Autor:
Minyong Li, Lupei Du, Xiaojun Qin, Guolin Ma, Youjun Wang, Yubin Zhou, Xingye Yang, Xiang Li, Sisi Zheng
Publikováno v:
Journal of the American Chemical Society. 142:9460-9470
The Ca2+ release-activated Ca2+ (CRAC) channels control many Ca2+-modulated physiological processes in mammals. Hyperactivating CRAC channels are known to cause several human diseases, including Stormorken syndrome. Here, we show the design of azopyr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f70aa30b017d1634abfacda22a68d79
https://doi.org/10.1021/jacs.0c02949
https://doi.org/10.1021/jacs.0c02949
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in Neurology
Objective: To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype.Methods: We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc701f3c9efde231d75a44f36df6d505
https://www.frontiersin.org/articles/10.3389/fneur.2021.522513/full
https://www.frontiersin.org/articles/10.3389/fneur.2021.522513/full
Publikováno v:
Pediatrics and neonatology. 63(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e52579c0b9bc3a100155b78382526f
https://pubmed.ncbi.nlm.nih.gov/34702682
https://pubmed.ncbi.nlm.nih.gov/34702682