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Loss of protein function of ZC4H2 gene causing severe phenotypes of female-restricted Wieacker Wolff Syndrome

ABSTRACT: Loss of protein function of ZC4H2 gene causing severe phenotypes of female-restricted Wieacker Wolff Syndrome

PROVIDER: PRJNA858652 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR20187043_1.fastq.gz	Fastqsanger.gz
	SRR20187043_2.fastq.gz	Fastqsanger.gz
	SRR20187044_1.fastq.gz	Fastqsanger.gz
	SRR20187044_2.fastq.gz	Fastqsanger.gz
	SRR20187045_1.fastq.gz	Fastqsanger.gz

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Loss of protein function of ZC4H2 gene causing severe phenotypes of female-restricted Wieacker Wolff Syndrome

Project description:Background: Pathogenic variants of zinc finger C4H2-type containing (ZC4H2) on the X chromosome caused a group of genetic diseases called ZC4H2-associated rare disorders (ZARD), including Wieacker-Wolff Syndrome (WRWF) and Female-restricted Wieacker-Wolff Syndrome (WRWFFR). Patients displayed arthrogryposis multiplex congenita (AMC), central and peripheral nervous system involvement, as well as multiple dysmorphic features. The underlying mechanisms of the complex syndrome remain to be elucidated. Methods: Expression levels of ZC4H2 were knockdown in neural stem cells (NSCs) derived from induced pluripotent stem cells (iPSCs) by lentiviral-expressed shRNAs against ZC4H2. RNA sequencing (RNA seq) was subsequently applied to study the effects on gene expression profiles. The expression levels of differentially expressed genes were then verified by PCR array and RT-qPCR. Results: neural stem cell-like cells were induced from human induced pluripotent stem cells (hiPSCs), which were confirmed to express biomarkers of Neural stem cells (NSCs) by immunofluorescence. The viability of NSCs were affected through inhibition of ZC4H2 expression after they were infected with lentivirus containing siRNA targeting to ZC4H2 gene. The RNA-seq results showed that the gene expression pattern in NSCs was changed after inhibition of ZC4H2. DEGs were significantly enriched in oxidative phosphorylation and neurodegenerative diseases signaling pathways. Down-regulation of ZC4H2 might affect neural development by affecting the expression of genes related to oxidative phosphorylation signaling pathway. Conclusions: Down-regulation of genes related to the oxidative phosphorylation pathway might be involved in the pathogenity of the disease. Keywords: Female-restricted Wieacker-Wolff Syndrome (WRWF), Wieacker-Wolff Syndrome (WRWFFR), ZC4H2, Arthrogryposis multiplex congenita (AMC), nonsense mutation

2022-07-17 | GSE208171 | GEO

Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the <i>ZC4H2</i> Gene.

Project description: Not available

| S-EPMC9498907 | biostudies-literature

Transcriptomic profiling of inflammatory phenotypes of severe asthma using endobronchial biopsies

Project description:Severe asthma is a complex disease with different inflammatory phenotypes. Transcriptomic profiling has contributed to understanding the pathogenesis of asthma, especially type-2 inflammation; however, there is still poor understanding of non-eosinophilic asthma, and consequently there are limited treatment options. The aim of this study was to determine transcriptomic profiles in endobronchial biopsies of adults with severe asthma and different inflammatory phenotypes (neutrophilic, eosinophilic and paucigranulocytic) compared with healthy controls.

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Transcriptomic profiling of inflammatory phenotypes of severe asthma using endobronchial biopsies

Project description:Transcriptomic profiling of inflammatory phenotypes of severe asthma using endobronchial biopsies

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INTS8 mutations cause severe neurodevelopmental syndrome

Project description:Integrator (INT) is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. INT has at least 14 subunits, but INT germline mutations causing human disease have not been reported. We identified mutations in the Integrator Complex Subunit 8 gene (INTS8) causing a rare neurodevelopmental syndrome. In patient cells we identified significant disturbance of gene expression and RNA processing. Also, we show that injection of ints8 oligonucleotide morpholinos into zebrafish embryos leads to prominent underdevelopment of the head demonstrating the evolutionary conserved requirement of INTS8 in brain development. RNA sequencing was carried out using RNA samples from fibroblasts from two individuals with germline bi-allelic INTS8 mutations and from two healthy individuals

2017-05-17 | E-GEOD-76878 | biostudies-arrayexpress

Enhancer adoption by an LTR retrotransposon generates viral-like particles causing developmental limb phenotypes

Project description:Enhancer adoption by an LTR retrotransposon generates viral-like particles causing developmental limb phenotypes

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INTS8 mutations cause severe neurodevelopmental syndrome

2017-05-17 | GSE76878 | GEO

Enhancer adoption by an LTR retrotransposon generates viral-like particles causing developmental limb phenotypes [4C]

Project description:Enhancer adoption by an LTR retrotransposon generates viral-like particles causing developmental limb phenotypes [4C]

| PRJNA1034558 | ENA

Enhancer adoption by an LTR retrotransposon generates viral-like particles causing developmental limb phenotypes [cHiC]

Project description:Enhancer adoption by an LTR retrotransposon generates viral-like particles causing developmental limb phenotypes [cHiC]

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Macrophage-restricted Interleukin-10 receptor-, but not IL-10 deficiency causes severe spontaneous colitis

Project description:Interleukin-10 (IL-10) is a pleiotropic anti-inflammatory cytokine produced and sensed by most hematopoietic cells. Genome wide association studies and experimental animal models point at a central role of the IL-10 axis in Inflammatory Bowel Diseases. Here we investigated the importance of intestinal macrophage production of IL-10 and their IL-10 exposure, as well as the existence of an IL-10-based autocrine regulatory loop in the gut. Specifically, we generated mice harboring IL-10 or IL-10 receptor (IL-10R?) mutations in intestinal lamina propria-resident chemokine receptor CX3CR1hi-expressingmacrophages. We found macrophage-derived IL-10 dispensable for gut homeostasis and maintenance of colonic T regulatory cells. In contrast, loss of IL-10 receptor expression impaired the critical conditioning of these monocyte-derived macrophages, but resulted in spontaneous development of severe colitis. Collectively, our results highlight IL-10 as a critical homeostatic macrophage-conditioning factor in the colon and define intestinal CX3CR1hi macrophages as a decisive factor that determines gut health or inflammation. Microarray of resident macrophages sorted from colons of Interleukin-10 deficeint mice and macrophage-restricted interleukin-10 receptor deficient mice versus colonic resident macrophages of wild type mice

2014-05-09 | E-GEOD-56444 | biostudies-arrayexpress

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