يعرض 1 - 10 نتائج من 105 نتيجة بحث عن '"Tubular aggregate myopathy"', وقت الاستعلام: 1.87s تنقيح النتائج
  1. 1
    دورية أكاديمية
    STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39

    المؤلفون: Riva, Beatrice, Pessolano, Emanuela, Quaglia, Edoardo, Cordero-Sanchez, Celia, Bhela, Irene P, Topf, Ana, Serafini, Marta, Cox, Daniel, Harris, Elizabeth, Garibaldi, Matteo, Barresi, Rita, Pirali, Tracey, Genazzani, Armando A

    المساهمون: Riva, Beatrice, Pessolano, Emanuela, Quaglia, Edoardo, Cordero-Sanchez, Celia, Bhela, Irene P, Topf, Ana, Serafini, Marta, Cox, Daniel, Harris, Elizabeth, Garibaldi, Matteo, Barresi, Rita, Pirali, Tracey, Genazzani, Armando A

    مصطلحات موضوعية: gain-of-function mutation, store-operated calcium entry, store-operated calcium entry modulator, tubular aggregate myopathy

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35636153; info:eu-repo/semantics/altIdentifier/wos/WOS:000810505300002; volume:105; firstpage:1; lastpage:9; numberofpages:9; journal:CELL CALCIUM; https://hdl.handle.net/11573/1676722Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131053137

    الإتاحة: https://doi.org/10.1016/j.ceca.2022.102605Test
    https://hdl.handle.net/11573/1676722Test

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  2. 2
    دورية أكاديمية
    Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

    المؤلفون: Roberto Silva-Rojas, Laura Pérez-Guàrdia, Emma Lafabrie, David Moulaert, Jocelyn Laporte, Johann Böhm

    المصدر: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 6968

    مصطلحات موضوعية: tubular aggregate myopathy, Stormorken syndrome, muscle disorder, calcium, STIM1, ORAI1, mouse model, ion channel, shRNA

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    العلاقة: Molecular Biophysics; https://dx.doi.org/10.3390/ijms23136968Test

    الإتاحة: https://doi.org/10.3390/ijms23136968Test

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  3. 3
    دورية أكاديمية
    Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

    المؤلفون: Silva-Rojas, Roberto, Pérez-Guàrdia, Laura, Lafabrie, Emma, Moulaert, David, Laporte, Jocelyn, Böhm, Johann

    المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Clinique de la Souris (ICS), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010)

    المصدر: ISSN: 1661-6596.

    مصطلحات موضوعية: tubular aggregate myopathy, Stormorken syndrome, muscle disorder, calcium, STIM1, ORAI1, mouse model, ion channel, shRNA, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology

    العلاقة: hal-03777978; https://hal.science/hal-03777978Test; https://hal.science/hal-03777978/documentTest; https://hal.science/hal-03777978/file/ijms-23-06968-v2.pdfTest

    الإتاحة: https://doi.org/10.3390/ijms23136968Test
    https://hal.science/hal-03777978Test
    https://hal.science/hal-03777978/documentTest
    https://hal.science/hal-03777978/file/ijms-23-06968-v2.pdfTest

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  4. 4
    دورية أكاديمية
    Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report

    المؤلفون: Li-Jun Jiang, Xue Zhao, Zhi-Yan Dou, Qing-Xiao Su, Zan-Hua Rong

    المصدر: Frontiers in Neurology, Vol 12 (2021)

    مصطلحات موضوعية: stormorken syndrome, STIM1, mutation, thrombocytopenia, tubular aggregate myopathy, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.522513/fullTest; https://doaj.org/toc/1664-2295Test

    الوصول الحر: https://doaj.org/article/494360c88f3a48939dd447ead95221c3Test

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  5. 5
    دورية أكاديمية
    Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle

    المؤلفون: Alexandra Salvi, André Maues De Paula, Nicolas Lévy, Shahram Attarian, Marc Bartoli

    المصدر: Frontiers in Physiology, Vol 12 (2021)

    مصطلحات موضوعية: tubular aggregate myopathy, STIM 1, store operated Ca entry 2+, long-term exercise, genetics disease, Physiology, QP1-981

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/articles/10.3389/fphys.2021.663677/fullTest; https://doaj.org/toc/1664-042XTest

    الوصول الحر: https://doaj.org/article/c14a995b479046868d2975b78fcc1256Test

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  6. 6
    دورية أكاديمية
    Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy

    المؤلفون: Elena Conte, Alessandra Pannunzio, Paola Imbrici, Giulia Maria Camerino, Lorenzo Maggi, Marina Mora, Sara Gibertini, Ornella Cappellari, Annamaria De Luca, Mauro Coluccia, Antonella Liantonio

    المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

    مصطلحات موضوعية: STIM1, tubular aggregate myopathy, myogenesis (in vitro), high content imaging, calcium homeostasis, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2021.635063/fullTest; https://doaj.org/toc/2296-634XTest

    الوصول الحر: https://doaj.org/article/e6d9628391684308a3478b82e4fee8b6Test

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  7. 7
    دورية أكاديمية
    Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle

    المؤلفون: Salvi, Alexandra, Maues de Paula, André, Levy, Nicolas, Attarian, Shahram, Bartoli, Marc

    المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

    المصدر: ISSN: 1664-042X ; Frontiers in Physiology ; https://amu.hal.science/hal-03188937Test ; Frontiers in Physiology, 2021, 12, ⟨10.3389/fphys.2021.663677⟩.

    مصطلحات موضوعية: tubular aggregate myopathy, STIM 1, store operated Ca entry 2+, long-term exercise, genetics disease, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

    العلاقة: hal-03188937; https://amu.hal.science/hal-03188937Test; https://amu.hal.science/hal-03188937/documentTest; https://amu.hal.science/hal-03188937/file/Commentary.pdfTest

    الإتاحة: https://doi.org/10.3389/fphys.2021.663677Test
    https://amu.hal.science/hal-03188937Test
    https://amu.hal.science/hal-03188937/documentTest
    https://amu.hal.science/hal-03188937/file/Commentary.pdfTest

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  8. 8
    دورية أكاديمية
    STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

    المؤلفون: Roberto Silva-Rojas, Jocelyn Laporte, Johann Böhm

    المصدر: Frontiers in Physiology, Vol 11 (2020)

    مصطلحات موضوعية: SOCE, calcium, STIM1, ORAI1, CRAC channelopathy, tubular aggregate myopathy, Physiology, QP1-981

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/articles/10.3389/fphys.2020.604941/fullTest; https://doaj.org/toc/1664-042XTest

    الوصول الحر: https://doaj.org/article/98008981d6784660bd4e710e64bbf013Test

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  9. 9
    دورية أكاديمية
    Calcium entry units (CEUs): perspectives in skeletal muscle function and disease

    المؤلفون: Feliciano Protasi, Laura Pietrangelo, Simona Boncompagni

    المساهمون: Protasi, Feliciano, Pietrangelo, Laura, Boncompagni, Simona

    مصطلحات موضوعية: Sarcoplasmic reticulum (SR), Store-operated Ca, 2+, entry (SOCE), Transverse tubules (TT), Tubular aggregate myopathy (TAM)

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32812118; info:eu-repo/semantics/altIdentifier/wos/WOS:000560638200001; firstpage:1; lastpage:17; numberofpages:17; journal:JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY; http://hdl.handle.net/11564/732360Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089483712; https://link.springer.com/article/10.1007/s10974-020-09586-3Test

    الإتاحة: https://doi.org/10.1007/s10974-020-09586-3Test
    http://hdl.handle.net/11564/732360Test

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  10. 10
    دورية أكاديمية
    Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes

    المؤلفون: Matthias Sallinger, Adéla Tiffner, Tony Schmidt, Daniel Bonhenry, Linda Waldherr, Irene Frischauf, Victoria Lunz, Isabella Derler, Romana Schober, Rainer Schindl

    المصدر: International Journal of Molecular Sciences; Volume 21; Issue 12; Pages: 4410

    مصطلحات موضوعية: STIM, Orai, Ca 2+, SOCE, MITF, TFEB, hydrophobic pocket, EF-hand, tubular aggregate myopathy

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    العلاقة: Biochemistry; https://dx.doi.org/10.3390/ijms21124410Test

    الإتاحة: https://doi.org/10.3390/ijms21124410Test

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