Cargando…

Stormorken syndrome caused by STIM1 mutation: A case report and literature review

The aim of the present case study was to identify the genetic cause of a patient with a clinical presentation of tubular aggregate myopathy (TAM)/Stormorken syndrome (STRMK) and review the published clinical data of patients with TAM/STRMK. A child with thrombocytopenia and hyperCKemia at the Childr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sun, Wenqiang, Hu, Jinhui, Li, Mengzhao, Huo, Jie, Zhu, Xueping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829216/ https://www.ncbi.nlm.nih.gov/pubmed/36698909 http://dx.doi.org/10.3892/mi.2022.54

Ejemplares similares

Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
por: Jiang, Li-Jun, et al.
Publicado: (2021)

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature
por: Borsani, Oscar, et al.
Publicado: (2018)

A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state
por: Fahrner, Marc, et al.
Publicado: (2018)

Stormorken syndrome or York platelet syndrome: A clinician's dilemma
por: Singh, Amrathlal Rabbind, et al.
Publicado: (2015)

Silencing of the Ca(2+) Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice
por: Silva-Rojas, Roberto, et al.
Publicado: (2022)

Acute necrotizing encephalopathy associated with lymphoma-associated hemophagocytic lymphohistiocytosis: A case report and literature review
por: Sun, Wenqiang, et al.
Publicado: (2022)

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1
por: Tasca, Giorgio, et al.
Publicado: (2015)

Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1
por: Okuma, Hidehiko, et al.
Publicado: (2016)

Afatinib as first‐line treatment for advanced lung adenocarcinoma patients harboring HER2 mutation: A case report and review of the literature
por: Shi, Yuequan, et al.
Publicado: (2018)

Calmodulin dissociates the STIM1-Orai1 complex and STIM1 oligomers
por: Li, Xin, et al.
Publicado: (2017)

Calcium store refilling and STIM activation in STIM- and Orai-deficient cell lines
por: Zheng, Sisi, et al.
Publicado: (2018)

Sacral neuromodulation for overactive bladder using the InterStim and BetterStim systems
por: Meng, Lingfeng, et al.
Publicado: (2022)

A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
por: Cordero-Sanchez, Celia, et al.
Publicado: (2019)

Cooperative and alternate functions for STIM1 and STIM2 in macrophage activation and in the context of inflammation
por: Sogkas, Georgios, et al.
Publicado: (2015)

Comprehensive Assessment of the STIMs and Orais Expression in Polycystic Ovary Syndrome
por: Song, Tian, et al.
Publicado: (2022)

Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review
por: Bai, Yang, et al.
Publicado: (2017)

STIM1 strengthens clotting
por: Bashyam, Hema
Publicado: (2008)

The regulation of STIM1 by phosphorylation
por: Pozo-Guisado, Eulalia, et al.
Publicado: (2013)

Role of STIM1 in neurodegeneration
por: Pascual-Caro, Carlos, et al.
Publicado: (2018)

The many states of STIM1
por: Fahrner, Marc, et al.
Publicado: (2021)

Differential Roles for STIM1 and STIM2 in Store-Operated Calcium Entry in Rat Neurons
por: Gruszczynska-Biegala, Joanna, et al.
Publicado: (2011)

STIM1 and STIM2 Mediate Cancer-Induced Inflammation in T Cell Acute Lymphoblastic Leukemia
por: Fleur-Lominy, Shella Saint, et al.
Publicado: (2018)

ATP depletion induces translocation of STIM1 to puncta and formation of STIM1–ORAI1 clusters: translocation and re-translocation of STIM1 does not require ATP
por: Chvanov, Michael, et al.
Publicado: (2008)

Deficient for endoplasmic reticulum calcium sensors Stim1 and Stim2 affects aberrant antibody affinity maturation in B cells
por: Mao, Xuhua, et al.
Publicado: (2016)

The Drosophila STIM1 orthologue, dSTIM, has roles in cell fate specification and tissue patterning
por: Eid, Jean-Pierre, et al.
Publicado: (2008)

Calcium Sensors STIM1 and STIM2 Regulate Different Calcium Functions in Cultured Hippocampal Neurons
por: Kushnireva, Liliya, et al.
Publicado: (2021)

Corrigendum: Comprehensive assessment of the STIMs and Orais expression in polycystic ovary syndrome
por: Song, Tian, et al.
Publicado: (2022)

Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement
por: de la Fuente-Munoz, Eduardo, et al.
Publicado: (2022)

CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature
por: Li, Jie, et al.
Publicado: (2023)

Triple stimulation (TriStim) before bilateral oophorectomy in a young woman with ovarian cancer: a case report and review of the literature
por: Gemmell, Laura C., et al.
Publicado: (2020)

Noonan syndrome caused by RIT1 gene mutation: A case report and literature review
por: Zha, Ping, et al.
Publicado: (2022)

Enhanced Stim1 expression is associated with acquired chemo-resistance of cisplatin in osteosarcoma cells
por: Sun, Xilong, et al.
Publicado: (2017)

Retraction: Deficient for endoplasmic reticulum calcium sensors Stim1 and Stim2 affects aberrant antibody affinity maturation in B cells
por: Mao, Xuhua, et al.
Publicado: (2019)

CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature
por: Sun, Ying, et al.
Publicado: (2018)

Orais and STIMs: physiological mechanisms and disease
por: Berna-Erro, A, et al.
Publicado: (2012)

The STIM1/Orai signaling machinery
por: Fahrner, Marc, et al.
Publicado: (2013)

Molecular mechanisms of STIM/Orai communication
por: Derler, Isabella, et al.
Publicado: (2016)

STIM and ORAI proteins in the nervous system
por: Kraft, Robert
Publicado: (2015)

The role of STIM proteins in neutrophil functions
por: Demaurex, Nicolas, et al.
Publicado: (2018)

STIM Proteins: An Ever-Expanding Family
por: Grabmayr, Herwig, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_u8h7137nnchsqs6e6m3q0ki1ki