Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Whole exome sequencing in Alopecia Areata identifies rare mutations in KRT82

ABSTRACT: Whole exome sequencing in Alopecia Areata identifies rare mutations in KRT82

PROVIDER: PRJNA768921 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Whole exome sequencing in Alopecia Areata identifies rare mutations in KRT82

Project description:Whole exome sequencing in Alopecia Areata identifies rare mutations in KRT82

| PRJNA768920 | ENA

First ruxolitinib treatment of human alopecia areata patients

Project description:Two patients with alopecia areata were treated with systemic ruxolitinib. Skin biopsies were taken before starting treatment and 12 weeks after starting treatment. We used microarrays to assess changes in gene expression of affected skin before and after starting treatment Two patients with alopecia areata were recruited for our study. Skin biopsies of affected scalp were taken prior to starting treatment with oral ruxolinitib. Additional skin biopsies were taken 12 weeks after starting treatment. Scalp skin biopsies were taken from patients without alopecia areata for comparison. RNA was extracted, cDNA libraries were made and profiled on affymetrix microarray chips.

2014-08-17 | E-GEOD-58573 | biostudies-arrayexpress

Human Alopecia Areata Skin Profiling

Project description:Our goal was to develop a transcriptomic description of affected alopecic scalp skin from patients with alopecia areata. 5 biological replicates of skin samples from 5 separate AA patients compared with 5 similar scalp samples from healthy control patients

2014-08-17 | E-GEOD-45512 | biostudies-arrayexpress

Human Alopecia Areata Skin Profiling

Project description:Our goal was to develop a transcriptomic description of affected alopecic scalp skin from patients with alopecia areata.

2014-08-17 | GSE45512 | GEO

Human Alopecia Areata Skin Biopsy Samples

Project description:Gene expression profiling of scalp skin biopsies from patients with alopecia areata or normal healthy controls Scalp skin punch biopsies were taken from the indicated patients and stored in PAXgene tissue containers for shipping to a central location, where the samples were processed

2017-02-09 | GSE68801 | GEO

First ruxolitinib treatment of human alopecia areata patients

2014-08-17 | GSE58573 | GEO

Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.

Project description:Alopecia areata is a complex genetic disease that results in hair loss due to the autoimmune-mediated attack of the hair follicle. We previously defined a role for both rare and common variants in our earlier GWAS and linkage studies. Here, we identify rare variants contributing to Alopecia Areata using a whole exome sequencing and gene-level burden analyses approach on 849 Alopecia Areata patients compared to 15,640 controls. KRT82 is identified as an Alopecia Areata risk gene with rare damaging variants in 51 heterozygous Alopecia Areata individuals (6.01%), achieving genome-wide significance (p = 2.18E-07). KRT82 encodes a hair-specific type II keratin that is exclusively expressed in the hair shaft cuticle during anagen phase, and its expression is decreased in Alopecia Areata patient skin and hair follicles. Finally, we find that cases with an identified damaging KRT82 variant and reduced KRT82 expression have elevated perifollicular CD8 infiltrates. In this work, we utilize whole exome sequencing to successfully identify a significant Alopecia Areata disease-relevant gene, KRT82, and reveal a proposed mechanism for rare variant predisposition leading to disrupted hair shaft integrity.

| S-EPMC8831607 | biostudies-literature

Pilot open label clinical trial of oral ruxolitinib in patients with alopecia areata

Project description:This goal of these studies were to examine gene expression profiles of skin from patients with alopecia areata undergoing treatment with oral ruxoltinib. Microarray analysis was performed to assess changes in gene expression in affected scalp skin.

2017-08-23 | GSE80342 | GEO

Extensive alopecia areata is reversed by IL-23 cytokine antagonism

Project description:Alopecia areata (AA) is a prevalent disease associated with major emotional distress, and lacks effective, safe therapeutics for patients with extensive hair loss. This is the first report of hair regrowth with specific cytokine antagonism, in three patients with extensive hair loss ranging from 40% scalp involvement to alopecia universalis. Ustekinumab, an IL-12/23p40 antagonist that is highly effective in psoriasis, showed impressive ability to induce hair regrowth, coupled with suppression of inflammatory pathways and upregulation of hair keratins. Our report suggests that extensive AA is reversible using targeted treatments, opening the door for specific cytokine antagonism for this debilitating disease. We evaluated hair regrowth in three AA patients at 20 weeks after treatment with 3 subcutaneous doses of 90mg ustekinumab given at weeks 0, 4, and 16. Skin biopsies of lesional and non-lesional scalp (when available) were taken at baseline (week 0) and at week 20. We also obtained biopsies from three healthy individuals.

2015-12-08 | E-GEOD-74761 | biostudies-arrayexpress

Genome Wide Association Study of Alopecia Areata

Project description:Genome Wide Association Study of Alopecia Areata

| PRJNA187262 | ENA