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Displaying 20 of 444 results for "MAGT1"
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  1. MAGT1_XENLA UniProt:Swiss-Prot

    ID: Q63ZR0

    Description: Magnesium transporter protein 1 Extracellular Helical Cytoplasmic Helical Extracellular Helic...

  2. Genetic Basis of XMEN Disease dbGaP

    ID: phs000365.v1.p1

    Description: atient upon TCR stimulation. Given the mother's T cells show completely skewed X chromosome inactivation, we suspected that the nature of this disease is X-linked. We performed X-chromosome exon-capture targeted single-end Solexa sequencing on two brothers and the mother and found a 10 base pair deletion at an intron-exon junction of Magnesium Transporter 1 (MAGT1), a Mg2+ specific transporter. We confirmed that this deletion leads to altered splicing, frameshift, early termination of the mRNA, and deficient protein expression in the lymphocytes of the two patients. Moreover, knockdown of this transporter in T cells isolated from healthy donors can recapitulate the observed T cell activation defect while its ectopic expression in the patients' lymphocytes can restore T cell stimulation. Our discovery highlights the si...

    Study Types: Case-Control

  3. Exome Sequencing for Diseases of the Immune System: X-linked Immunodeficiency with Magnesium Defect, EBV Infection, and Neoplasia (XMEN) OmicsDI

    ID: phs000365.v1.p1

    Date Released:

    Description: atient upon TCR stimulation. Given the mother's T cells show completely skewed X chromosome inactivation, we suspected that the nature of this disease is X-linked. We performed X-chromosome exon-capture targeted single-end Solexa sequencing on two brothers and the mother and found a 10 base pair deletion at an intron-exon junction of Magnesium Transporter 1 (MAGT1), a Mg2+ specific transporter. We confirmed that this deletion leads to altered splicing, frameshift, early termination of the mRNA, and deficient protein expression in the lymphocytes of the two patients. Moreover, knockdown of this transporter in T cells isolated from healthy donors can recapitulate the observed T cell activation defect while its ectopic expression in the patients' lymphocytes can restore T cell stimulation. Our discovery highlight...

  4. Development of mRNA and lincRNA expression signatures of MEFs deficient in ER stress mediators for tunicamycin treatment ArrayExpress

    ID: E-GEOD-35173

    Description: expression of five ER-related genes (Derl1, Ssr3, Magt1, Bet1 and Mcfd2) was quantified in the RNA samples from COS7 cells by real-time PCR, confirming existence of similar mechanisms of trancriptional activation in ER stress by tunicamycin treatment. Mouse embryonic fibroblasts (MEFs) deficient in each ER stress mediator (XBP1, ATF4, ATF6a or ATF6b) were treated with 2ug/mL tunicamycin for 12 or 24 hrs. Two independent experiments were performed for each mediator-deficient MEF at each time (untreated, 12 or 24 hrs). Genes responsible for tunicamycin in each mediator-dependent manner were extracted and categorized by Gene Ontology in GeneRanker program of Geno...

  5. Effects of physiological and synthetic IAP antagonism on c-IAP dependent signaling ArrayExpress

    ID: E-GEOD-64927

    Description: Cellular inhibitor of apoptosis proteins 1 and 2 (c-IAP1/2) play central roles in signal transduction mediated by numerous receptors that participate in inflammatory and im...

  6. Development of mRNA and lincRNA expression signatures of MEFs deficient in ER stress mediators for tunicamycin treatment BioProject

    ID: PRJNA155981

    Keywords: Transcriptome or Gene expression

    Access Type: download

    dataset.description: expression of five ER-related genes (Derl1, Ssr3, Magt1, Bet1 and Mcfd2) was quantified in the RNA samples from COS7 cells by real-time PCR, confirming existence of similar mechanisms of trancriptional activation in ER stress by tunicamycin treatment. Overall design: Mouse embryonic fibroblasts (MEFs) deficient in each ER stress mediator (XBP1, ATF4, ATF6a or ATF6b) were treated with 2ug/mL tunicamycin for 12 or 24 hrs. Two independent experiments were performed for each mediator-deficient MEF at each time (untreated, 12 or 24 hrs). Genes responsible for tunicamycin in each mediator-dependent manner were extracted and categorized by Gene Ontology in GeneRanker...
  7. Effects of physiological and synthetic IAP antagonism on c-IAP dependent signaling BioProject

    ID: PRJNA272523

    Keywords: Other

    Access Type: download

  8. Effects of physiological and synthetic IAP antagonism on c-IAP dependent signaling OmicsDI

    ID: E-GEOD-64927

    Date Released: 02-14-2015

    Description: Cellular inhibitor of apoptosis proteins 1 and 2 (c-IAP1/2) play central roles in signal transduction mediated by numerous receptors that participate in inflammatory and im...

  9. Retrotransposon-based profiling of mammalian epigenomes: DNA methylation of IAP LTRs in embryonic stem, somatic and cancer cells ArrayExpress

    ID: E-GEOD-60007

    Description: y, we analyzed the DNA methylation levels of 4799 IAP LTRs in three murine cell types: AB2.2 ES cells, somatic cells and a neuroblastoma cell line Neuro2A. According to the results, half of the...

  10. Retrotransposon-based profiling of mammalian epigenomes: DNA methylation of IAP LTRs in embryonic stem, somatic and cancer cells BioProject

    ID: PRJNA257271

    Keywords: Epigenomics

    Access Type: download

  11. Retrotransposon-based profiling of mammalian epigenomes: DNA methylation of IAP LTRs in embryonic stem, somatic and cancer cells OmicsDI

    ID: E-GEOD-60007

    Date Released: 06-21-2015

    Description: y, we analyzed the DNA methylation levels of 4799 IAP LTRs in three murine cell types: AB2.2 ES cells, somatic cells and a neuroblastoma cell line Neuro2A. According to the results, half of the...

  12. SOLUTION STRUCTURE OF A BACULOVIRAL INHIBITOR OF APOPTOSIS (IAP) REPEAT PDB

    ID: PDB:1QBH

    Description: INHIBITOR OF APOPTOSIS PROTEIN (2MIHB/C-IAP-1)

  13. The de novo DNA methyltransferase DNMT3C protects male fertility from transposon activity (RNA-Seq). BioProject

    ID: PRJNA328140

    Keywords: Transcriptome or Gene expression

    Access Type: download

    dataset.description: ntially expressed genes and transposons in Dnmt3C IAP/IAP mutants, mutant and control RNA-Seq experiments were conducted starting from whole testis RNA. Overall design: Comparison of RNA-seq resul...
  14. IAP_GVCPM UniProt:Swiss-Prot

    ID: P41436

    Description: Apoptosis inhibitor IAP BIR 1 BIR 2 RING-type Zinc Zinc Zinc Zinc

  15. The de novo DNA methyltransferase DNMT3C protects male fertility from transposon activity (Bisulfite-seq). BioProject

    ID: PRJNA328141

    Keywords: Epigenomics

    Access Type: download

    dataset.description: To evaluate the impacts of the Dnmt3C IAP mutation in the methylome of germ cells, mutant and control whole genome bisulfite sequencing experiments were conducted starti...
  16. Structure of an ML-IAP/XIAP chimera bound to a 9mer peptide derived from Smac PDB

    ID: PDB:1TW6

    Description: Baculoviral IAP repeat-containing protein 7, Diablo homolog, mitochondrial

  17. Development of mRNA and lincRNA expression signatures of MEFs deficient in ER stress mediators for tunicamycin treatment OmicsDI

    ID: E-GEOD-35173

    Date Released: 01-28-2015

    Description: expression of five ER-related genes (Derl1, Ssr3, Magt1, Bet1 and Mcfd2) was quantified in the RNA samples from COS7 cells by real-time PCR, confirming existence of similar mechanisms of trancriptional activation in ER stress by tunicamycin treatment. Mouse embryonic fibroblasts (MEFs) deficient in each ER stress mediator (XBP1, ATF4, ATF6a or ATF6b) were treated with 2ug/mL tunicamycin for 12 or 24 hrs. Two independent experiments were performed for each mediator-deficient MEF at each time (untreated, 12 or 24 hrs). Genes responsible for tunicamycin in each mediator-dependent manner were extracted and categorized by Gene Ontology in GeneRanker program of Geno...

  18. Solution structure of the ring domain of the Baculoviral IAP repeat-containing protein 4 from Homo sapiens PDB

    ID: PDB:2ECG

    Description: Baculoviral IAP repeat-containing protein 4

  19. Structure of the BIR domain of IAP-like protein 2 PDB

    ID: PDB:1XB0

    Description: Baculoviral IAP repeat-containing protein 8, Diablo homolog, mitochondrial precursor

  20. The Structure of the BIR domain of IAP-like protein 2 PDB

    ID: PDB:1XB1

    Description: Baculoviral IAP repeat-containing protein 8, Diablo homolog, mitochondrial


Displaying 20 of 444 results for "MAGT1"