Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder
出版年份 2021 全文链接
标题
Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder
作者
关键词
-
出版物
eLife
Volume 10, Issue -, Pages -
出版商
eLife Sciences Publications, Ltd
发表日期
2021-12-15
DOI
10.7554/elife.72559
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
- (2019) Laura Rice et al. JOURNAL OF CLINICAL IMMUNOLOGY
- CRACR2A-Mediated TCR Signaling Promotes Local Effector Th1 and Th17 Responses
- (2018) Jin Seok Woo et al. JOURNAL OF IMMUNOLOGY
- The Ca2+ sensor STIM1 regulates the type I interferon response by retaining the signaling adaptor STING at the endoplasmic reticulum
- (2018) Sonal Srikanth et al. NATURE IMMUNOLOGY
- ORAI1 mutations abolishing store-operated Ca 2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
- (2017) Jayson Lian et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency
- (2016) David A. Parry et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- A large Rab GTPase encoded byCRACR2Ais a component of subsynaptic vesicles that transmit T cell activation signals
- (2016) Sonal Srikanth et al. Science Signaling
- A large Rab GTPase encoded byCRACR2Ais a component of subsynaptic vesicles that transmit T cell activation signals
- (2016) Sonal Srikanth et al. Science Signaling
- A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency
- (2015) Heidi Schaballie et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function
- (2015) Janet Chou et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population
- (2015) Deborah Edelman et al. Molecular Genetics & Genomic Medicine
- STIM1 and SLC24A4 Are Critical for Enamel Maturation
- (2014) S. Wang et al. JOURNAL OF DENTAL RESEARCH
- STAT3-Mediated Up-Regulation of BLIMP1 Is Coordinated with BCL6 Down-Regulation to Control Human Plasma Cell Differentiation
- (2014) S. A. Diehl et al. JOURNAL OF IMMUNOLOGY
- Weighted Gene Coexpression Network Analysis of Human Left Atrial Tissue Identifies Gene Modules Associated With Atrial Fibrillation
- (2013) Nicholas Tan et al. Circulation-Cardiovascular Genetics
- High Levels of CD2 Expression Identify HIV-1 Latently Infected Resting Memory CD4+ T Cells in Virally Suppressed Subjects
- (2013) M. Iglesias-Ussel et al. JOURNAL OF VIROLOGY
- In Vitro Generation of Long-lived Human Plasma Cells
- (2012) M. Cocco et al. JOURNAL OF IMMUNOLOGY
- Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency
- (2011) S. Fuchs et al. JOURNAL OF IMMUNOLOGY
- Risk Factors for Idiosyncratic Drug-Induced Liver Injury
- (2010) Naga Chalasani et al. GASTROENTEROLOGY
- Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
- (2010) Minji Byun et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that stabilizes CRAC channels in T cells
- (2010) Sonal Srikanth et al. NATURE CELL BIOLOGY
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
- (2009) Christie-Ann McCarl et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- The Intracellular Loop of Orai1 Plays a Central Role in Fast Inactivation of Ca2+Release-activated Ca2+Channels
- (2009) Sonal Srikanth et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity
- (2009) Capucine Picard et al. NEW ENGLAND JOURNAL OF MEDICINE
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