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Transcriptome sequencing of differentially expressed genes in acne inversa (AI) patients with NCSTN mutation and healthy individuals

ABSTRACT: Transcriptome sequencing of differentially expressed genes in acne inversa (AI) patients with NCSTN mutation and healthy individuals

PROVIDER: PRJNA473795 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR7235090_1.fastq.gz	Fastqsanger.gz
	SRR7235090_2.fastq.gz	Fastqsanger.gz
	SRR7235091_1.fastq.gz	Fastqsanger.gz
	SRR7235091_2.fastq.gz	Fastqsanger.gz
	SRR7235092_1.fastq.gz	Fastqsanger.gz

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Transcriptome sequencing of differentially expressed genes in acne inversa (AI) patients with NCSTN mutation and healthy individuals

Project description:To elucidate the relationship between NCSTN mutations and familial AI pathogenesis by investigating differential gene expression, we have employed transcriptome sequencing profiling as a discovery platform to identify genes with the potential to be involved in familial AI pathogenesis. Skin biopsies were obtained from the lesions of AI patients with NCSTN mutations . Control skin tissues were obtained from healthy individuals undergoing cosmetic surgery procedures

2018-05-31 | GSE115099 | GEO

miRNA expression signatures of acne inversa (AI) patients with NCSTN mutations and healthy individuals

Project description:To elucidate the relationship between NCSTN mutations and familial AI pathogenesis by investigating differential miRNA expression, we have employed miRNA microarray profiling as a discovery platform to identify miRNA with the potential to be involved in familial AI pathogenesis. Skin biopsies were obtained from the lesions of AI patients with NCSTN mutations . Control skin tissues were obtained from healthy individuals undergoing cosmetic surgery procedures

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miRNA expression signatures of acne inversa (AI) patients with NCSTN mutations and healthy individuals

Project description:miRNA expression signatures of acne inversa (AI) patients with NCSTN mutations and healthy individuals

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transcriptome-wide map of NCSTN-KD and NC Hacat cells

Project description:Acne inversa (AI) is an inflammatory skin disease associated with the nicastrin (NCSTN) mutations. Family history with autosomal dominant inheritance has heen reported in AI patients and are associated with mutations in the γ-secretase subunit, nicastrin (NCSTN), presenilin enhancer 2 (PSENEN), and presenilin-1 (PSEN1). Among them, NCSTN gene has the highest mutation rate. To detect the impact of NCSTN deficiency on AI keratinocytes. Here, using the short hairpin RNA (shRNA)-mediated gene knockdown and RNA sequencing technology, we explored the differentially expressed genes regulated by NCSTN deficiency in HaCaT cells.

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Transcriptome of lesional skin of patients suffering from Acne inversa

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Project description:We constructed keratinocyte-specific Ncstn-knockout mice to investigate the role of NCSTN in the pathogenesis of human AI.

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Transcriptome of lesional skin of patients suffering from Acne inversa

Project description:Transcriptome of lesional skin of patients suffering from Acne inversa

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Novel Mutation of the <i>NCSTN</i> Gene Identified in a Chinese Acne Inversa Family.

Project description:Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the NCSTN genes have been identified as the cause of familial acne inversa. Herein, we recruited four patients and seven unaffected individuals from a Chinese family and performed Sanger sequencing of the NCSTN gene. One novel frameshift mutation, c.450_459del (p.Ser 151GlnfsX48), was identified in exon 5 of the NCSTN gene. Three normal-looking children carrying the mutation were proven to be patients. We also presented a literature review from previous studies of acne inversa, suggesting that NCSTN is a hotspot gene for acne inversa. Most affected individuals experienced onset in adolescence. We confirmed the diagnosis in this family based on the mutation. This finding will help expound the relationship between the NCSTN gene and the pathogenesis of acne inversa and emphasize the value of genetic diagnosis in monogenic disorder.

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A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes.

Project description: Not available

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Transcription profiling of human acne lesion vs. normal skin from acne and non acne patients

Project description:The pathogenesis of acne has been linked to multiple factors such as increased sebum production, inflammation, follicular hyperkeratinization, and the action of Propionibacterium acnes within the follicle. In an attempt to understand the specific genes involved in inflammatory acne, we performed gene expression profiling in acne patients. Skin biopsies were obtained from an inflammatory papule and from normal skin in six patients with acne. Biopsies were also taken from normal skin of six subjects without acne. Gene array expression profiling was conducted using Affymetrix HG-U133A 2.0 arrays comparing lesional to nonlesional skin in acne patients and comparing nonlesional skin from acne patients to skin from normal subjects. Within the acne patients, 211 genes are upregulated in lesional skin compared to nonlesional skin. A significant proportion of these genes are involved in pathways that regulate inflammation and extracellular matrix remodeling, and they include matrix metalloproteinases 1 and 3, IL-8, human beta-defensin 4, and granzyme B. These data indicate a prominent role of matrix metalloproteinases, inflammatory cytokines, and antimicrobial peptides in acne lesions. These studies are the first describing the comprehensive changes in gene expression in inflammatory acne lesions and are valuable in identifying potential therapeutic targets in inflammatory acne. Experiment Overall Design: total 18 chips. 6 for acne lesion samples, 6 for normal skin samples, 6 for non-acne patient normal skin samples

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