146 related articles for article (PubMed ID: 33733462)
1. A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Salvi A; Skrypnyk C; Da Silva N; Urtizberea JA; Bakhiet M; Robert C; Lévy N; Megarbané A; Delague V; Bartoli M
Clin Genet; 2021 Jul; 100(1):84-89. PubMed ID: 33733462
[TBL] [Abstract][Full Text] [Related]
2. Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS; Feske S
Ann N Y Acad Sci; 2015 Nov; 1356(1):45-79. PubMed ID: 26469693
[TBL] [Abstract][Full Text] [Related]
3. A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca
Choi JH; Huang M; Hyun C; Oh MR; Lee KJ; Cho CH; Lee EH
Sci Rep; 2019 Dec; 9(1):19140. PubMed ID: 31844136
[TBL] [Abstract][Full Text] [Related]
4. Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.
Badran YR; Massaad MJ; Bainter W; Cangemi B; Naseem SU; Javad H; Al-Tamemi S; Geha RS; Chou J
Clin Immunol; 2016 May; 166-167():100-2. PubMed ID: 27063589
[TBL] [Abstract][Full Text] [Related]
5. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Böhm J; Chevessier F; Maues De Paula A; Koch C; Attarian S; Feger C; Hantaï D; Laforêt P; Ghorab K; Vallat JM; Fardeau M; Figarella-Branger D; Pouget J; Romero NB; Koch M; Ebel C; Levy N; Krahn M; Eymard B; Bartoli M; Laporte J
Am J Hum Genet; 2013 Feb; 92(2):271-8. PubMed ID: 23332920
[TBL] [Abstract][Full Text] [Related]
6. Immunodeficiency due to mutations in ORAI1 and STIM1.
Feske S; Picard C; Fischer A
Clin Immunol; 2010 May; 135(2):169-82. PubMed ID: 20189884
[TBL] [Abstract][Full Text] [Related]
7. Filamin A Modulates Store-Operated Ca
Lopez JJ; Albarrán L; Jardín I; Sanchez-Collado J; Redondo PC; Bermejo N; Bobe R; Smani T; Rosado JA
Arterioscler Thromb Vasc Biol; 2018 Feb; 38(2):386-397. PubMed ID: 29284605
[TBL] [Abstract][Full Text] [Related]
8. The distinct role of STIM1 and STIM2 in the regulation of store-operated Ca
Chen YF; Chen LH; Shen MR
J Cell Physiol; 2019 Jun; 234(6):8727-8739. PubMed ID: 30317585
[TBL] [Abstract][Full Text] [Related]
9. Cross-talk between N-terminal and C-terminal domains in stromal interaction molecule 2 (STIM2) determines enhanced STIM2 sensitivity.
Emrich SM; Yoast RE; Xin P; Zhang X; Pathak T; Nwokonko R; Gueguinou MF; Subedi KP; Zhou Y; Ambudkar IS; Hempel N; Machaca K; Gill DL; Trebak M
J Biol Chem; 2019 Apr; 294(16):6318-6332. PubMed ID: 30824535
[TBL] [Abstract][Full Text] [Related]
10.
Silva-Rojas R; Laporte J; Böhm J
Front Physiol; 2020; 11():604941. PubMed ID: 33250786
[TBL] [Abstract][Full Text] [Related]
11. Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.
Harris E; Burki U; Marini-Bettolo C; Neri M; Scotton C; Hudson J; Bertoli M; Evangelista T; Vroling B; Polvikoski T; Roberts M; Töpf A; Bushby K; McArthur D; Lochmüller H; Ferlini A; Straub V; Barresi R
Neuromuscul Disord; 2017 Sep; 27(9):861-872. PubMed ID: 28624464
[TBL] [Abstract][Full Text] [Related]
12. Interplay between ER Ca
Nelson HA; Leech CA; Kopp RF; Roe MW
Int J Mol Sci; 2018 May; 19(5):. PubMed ID: 29783744
[TBL] [Abstract][Full Text] [Related]
13. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Markello T; Chen D; Kwan JY; Horkayne-Szakaly I; Morrison A; Simakova O; Maric I; Lozier J; Cullinane AR; Kilo T; Meister L; Pakzad K; Bone W; Chainani S; Lee E; Links A; Boerkoel C; Fischer R; Toro C; White JG; Gahl WA; Gunay-Aygun M
Mol Genet Metab; 2015 Mar; 114(3):474-82. PubMed ID: 25577287
[TBL] [Abstract][Full Text] [Related]
14. CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs.
Feske S
Cell Calcium; 2019 Jun; 80():112-116. PubMed ID: 31009822
[TBL] [Abstract][Full Text] [Related]
15. Phosphorylation of STIM1 at ERK1/2 target sites regulates interaction with the microtubule plus-end binding protein EB1.
Pozo-Guisado E; Casas-Rua V; Tomas-Martin P; Lopez-Guerrero AM; Alvarez-Barrientos A; Martin-Romero FJ
J Cell Sci; 2013 Jul; 126(Pt 14):3170-80. PubMed ID: 23687376
[TBL] [Abstract][Full Text] [Related]
16. Tmem178 negatively regulates store-operated calcium entry in myeloid cells via association with STIM1.
Yang Z; Yan H; Dai W; Jing J; Yang Y; Mahajan S; Zhou Y; Li W; Macaubas C; Mellins ED; Shih CC; Fitzpatrick JAJ; Faccio R
J Autoimmun; 2019 Jul; 101():94-108. PubMed ID: 31018906
[TBL] [Abstract][Full Text] [Related]
17. Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G; Biancalana V; Echaniz-Laguna A; Noury JB; Lornage X; Moggio M; Ripolone M; Violano R; Marcorelles P; Maréchal D; Renaud F; Maurage CA; Tard C; Cuisset JM; Laporte J; Böhm J
Hum Mutat; 2020 Jan; 41(1):17-37. PubMed ID: 31448844
[TBL] [Abstract][Full Text] [Related]
18. Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G; Bruechle NO; Singh AR; Knopp C; Jedraszak G; Elbracht M; Brémond-Gignac D; Hartmann K; Sevestre H; Deutz P; Hérent D; Nürnberg P; Roméo B; Konrad K; Mathieu-Dramard M; Oldenburg J; Bourges-Petit E; Shen Y; Zerres K; Ouadid-Ahidouch H; Rochette J
Hum Mutat; 2014 Oct; 35(10):1221-32. PubMed ID: 25044882
[TBL] [Abstract][Full Text] [Related]
19. STIM1 Phosphorylation at Y361 Recruits Orai1 to STIM1 Puncta and Induces Ca
Yazbeck P; Tauseef M; Kruse K; Amin MR; Sheikh R; Feske S; Komarova Y; Mehta D
Sci Rep; 2017 Feb; 7():42758. PubMed ID: 28218251
[TBL] [Abstract][Full Text] [Related]
20. STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.
Silva-Rojas R; Treves S; Jacobs H; Kessler P; Messaddeq N; Laporte J; Böhm J
Hum Mol Genet; 2019 May; 28(10):1579-1593. PubMed ID: 30576443
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
