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A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance [scRNA, scTCR]

ABSTRACT: A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance [scRNA, scTCR]

PROVIDER: PRJNA725479 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR14333372.fastq.gz	Fastqsanger.gz
	SRR14333373.fastq.gz	Fastqsanger.gz
	SRR14333374.fastq.gz	Fastqsanger.gz
	SRR14333375.fastq.gz	Fastqsanger.gz

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Similar Datasets

A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance

Project description:A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance

| PRJNA725474 | ENA

A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance [scATAC]

Project description:A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance [scATAC]

| PRJNA725480 | ENA

A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance [scRNA, scTCR]

Project description:scRNA-seq datasets of immune cells in K392R and WT mice

2021-06-01 | GSE173413 | GEO

STAT3 secretion defect results in development abnormally

Project description:STAT3 secretion defect results in development abnormally

| PRJNA511761 | ENA

A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance

Project description:This SuperSeries is composed of the SubSeries listed below.

2021-06-01 | GSE173415 | GEO

A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance [scATAC]

Project description:scATAC-seq datasets of immune cells in K392R and WT mice

2021-06-01 | GSE173412 | GEO

ChIP-seq of Stat3 with DNA binding sites mutation in human colon cancer SW480

Project description:STAT3 is determined to play a crucial role in JAK/STAT signaling pathway. The mutations and copy number alteration of STAT3 can cause cancers and other diseases. The 317-567 amino acid domain of STAT3 protein contributes to binding with genomic DNA for gene activation. However, the impact of the mutations within DNA binding domain of STAT3 on the genomic binding pattern is not fully understood. Stat3 was deleted the 400-411 amino acid residue of \\"NNGSLSAEFKHL\\" using CRISPR-CAS9 in human colon cancer cells SW480. The cells were performed STAT3 ChIP-seq to investigate the genome-wide binding pattern of STAT3 between wild type and mutant STAT3 of SW480.

2020-07-06 | E-MTAB-8417 | biostudies-arrayexpress

Oral STAT3 Inhibitor, TTI-101, in Patients With Advanced Cancers

Project description:Many patients have cancers that have increased activity of a protein called STAT3 that contributes critically to the development and growth of their cancer. Despite our knowledge of STAT3’s importance to cancer, scientists and doctors have not developed a drug that targets it and that patients can take to treat their cancer more effectively than treatments that are now available. Tvardi Therapeutics, Incorporated has developed a compound, TTI-101, which can be given by mouth and acts as a direct inhibitor of STAT3. Administration of TTI-101 to mice demonstrated that it blocked growth of cancers of the breast, head and neck, lung, and liver and it was safe when administered at high doses to mice, rats, and dogs. In this application, Tvardi is proposing to further develop TTI-101 for treatment of solid tumors for which the prognosis is dismal. The investigators will determine how safe it is when administered to patients with cancer, determine whether an adequate dose can be administered to patients with cancer that will block STAT3 in their cancer, and determine whether treatment with TTI-101 leads to reduced growth of their cancer.

| 2247646 | ecrin-mdr-crc

Neural tube closure defect

Project description:Neural tube closure defect

| PRJNA704672 | ENA

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

Project description:Heterozygous in-frame mutations in coding regions of human STAT3 underlie the only known autosomal dominant form of hy- per IgE syndrome (AD HIES). About 5% of familial cases remain unexplained. The mutant proteins are loss-of-function and dominant-negative when tested following overproduction in re- cipient cells. However, the production of mutant proteins has not been detected and quantified in the cells of heterozygous pa- tients. We report a deep intronic heterozygous STAT3 mutation, c.1282-89C>T, in 7 relatives with AD HIES. This mutation creates a new exon in the STAT3 complementary DNA, which, when over- expressed, generates a mutant STAT3 protein (D427ins17) that is loss-of-function and dominant-negative in terms of tyrosine phos- phorylation, DNA binding, and transcriptional activity. In immor- talized B cells from these patients, the D427ins17 protein was 2 kDa larger and 4-fold less abundant than wild-type STAT3, on mass spectrometry. The patients’ primary B and T lymphocytes responded poorly to STAT3-dependent cytokines. These findings are reminiscent of the impaired responses of leukocytes from other patients with AD HIES due to typical STAT3 coding muta- tions, providing further evidence for the dominance of the mutant intronic allele. These findings highlight the importance of sequenc- ing STAT3 introns in patients with HIES without candidate variants in coding regions and essential splice sites. They also show that AD HIES-causing STAT3 mutant alleles can be dominant-negative even if the encoded protein is produced in significantly smaller amounts than wild-type STAT3.

2020-04-30 | GSE149602 | GEO

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