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Expression data from skin fibroblasts derived from Setleis Syndrome patients and normal controls

ABSTRACT: Setleis Syndrome is a rare type of facial ectodermal dysplasia characterized by an aged leonine appearance with puckered skin about the eyes, absent eyelashes on both lids or multiple rows on the upper lids and none on the lower lids, eyebrows that slant sharply upward laterally, and a rubbery feel of the nose and chin. Some of the patients showed bilateral temporal marks superficially like forceps marks and like the lesions seen in focal facial dermal dysplasia. We have evidence that Setleis Syndrome is caused by nonsense mutations in the gene coding for the small bHLH transcription factor known as TWIST2 in Puerto Rican and Omani patients. We performed expression microarray analysis of RNA samples derived from skin fibroblasts grown from skin biopsies of Setleis Syndrome patients and normal controls in order to identify genes potentially involved in facial development and the pathogenesis of Setleis Syndrome.

ORGANISM(S): Homo sapiens

PROVIDER: GSE16524 | GEO | 2009/06/11

SECONDARY ACCESSION(S): PRJNA116087

REPOSITORIES: GEO

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Expression data from skin fibroblasts derived from Setleis Syndrome patients and normal controls

Project description:Setleis Syndrome is a rare type of facial ectodermal dysplasia characterized by an aged leonine appearance with puckered skin about the eyes, absent eyelashes on both lids or multiple rows on the upper lids and none on the lower lids, eyebrows that slant sharply upward laterally, and a rubbery feel of the nose and chin. Some of the patients showed bilateral temporal marks superficially like forceps marks and like the lesions seen in focal facial dermal dysplasia. We have evidence that Setleis Syndrome is caused by nonsense mutations in the gene coding for the small bHLH transcription factor known as TWIST2 in Puerto Rican and Omani patients. We performed expression microarray analysis of RNA samples derived from skin fibroblasts grown from skin biopsies of Setleis Syndrome patients and normal controls in order to identify genes potentially involved in facial development and the pathogenesis of Setleis Syndrome. A total of 4 control and 4 Setleis Syndrome RNA samples were hybridized to U133 plus 2 Affymetrix 3'IVT arrays in the Mount Sinai School of Medicine Microarray Core Facility.

2009-06-11 | E-GEOD-16524 | biostudies-arrayexpress

Expression profiling of Setleis vs Control lymphoblastoid cells

Project description:Background: Setleis Syndrome (SS) is a rare focal facial dermal dysplasia frequently found in Puerto Ricans, presenting with bilateral temporal skin lesions, eyelash abnormalities and absent meibomian glands. SS is caused by homozygous mutations in the TWIST2 gene, which codes for a transcription factor of the bHLH family known to be involved in skin and facial development. Methods: We obtained gene expression profiles by microarray analyses from control and Setleis Syndrome patient primary skin fibroblast and lymphoblastoid cell lines. Results: Out of 983 differentially regulated genes in fibroblasts, 479 were down-regulated and 504 were up-regulated, while in lymphoblasts a greater number of differentially regulated genes (1248 down-regulated and 73 up-regulated) were found after microarray analysis. Real time PCR reactions confirmed altered expression of several differentially regulated genes. Conclusion: TWIST2 is described as a repressor, but expression profiling indicates it has a role in gene activation, as evidenced by the much higher proportion of down-regulated genes in cells from SS patients, including cytokine genes, in fibroblasts, the top three networks involved genes that function in Cancer, Nervous System Development and Function, Lipid Metabolism, Molecular Transport and Organismal Injury and Abnormalities. In Lymphoblastoid cells, the top three networks involved genes in Endocrine System Disorders, Cell Cycle, Cellular Assembly and Organization, Cardiovascular Disease and Developmental Disorders

2020-11-06 | GSE160893 | GEO

A multi-scale model for hair follicle reveals heterogeneous skin domains drive rapid spatiotemporal hair growth patterning

Project description:We report transcriptomes of whole skin from different anatomic regions, dorsum, ventrum, chin and ear pinna, as well as ear cartilage/muscle complex at different post-natal time points. Whole tissue was microdissected from wild type mice.

2017-06-30 | GSE85039 | GEO

Comprehensive transcriptional analysis of pig facial skin development

Project description:To study the development of pig facial skin after birth, we use the facial skin tissues of healthy Chenghua sows as experimental materials. we then performed gene expression profiling analysis using data obtained from RNA-seq of pig facial skin tissues at four time points.

2023-05-10 | GSE231573 | GEO

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Project description:Facial skin and large intestine Metagenome

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Research on a Quantitative Assessment of Skin Symptoms Caused by Chemotherapy Using Molecular Target Drugs

Project description:Primary outcome(s): <Assessment by devices> 1) Transepidermal water loss 2) Capacitance (stratum corneum-epidermal water) 3) Erythema & melanin index 4) Visia (Facial skin condition) <Visual assessment> NCI-CTC (ver. 4.0 Japanese version JCOG) <Self-completed questionnaires> Skindex 29 (QOL regarding skin symptoms)

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Proteomic analysis of the secretome of chondrocyte-like cells in Saul-Wilson syndrome

Project description:Saul-Wilson syndrome (SWS) is a rare skeletal dysplasia often presents with features such as a distinct facial phenotype, cataracts, short stature, clubfoot deformities, and microcephaly. We have previously identified that the causative mutation in SWS is a heterozygous, dominant variant (p.G516R) in COG4. COG4 is a Golgi-associated protein which plays important roles in protein trafficking. We further showed that the mutation impacts glycosylation of proteoglycans and disturbs chondrocyte elongation and intercalation in zebrafish embryos expressing COG4p.G516R variant. These effects could be partially rescued by adding wild type cells or their conditioned medium, implicating secretion anomalies associated with COG4p.G516R variant. We have conducted proteomic analysis of the conditioned medium from chondrocyte-like cells (SW1353) expressing COG4p.G516R variant and compared these to wild type SW1353 cells and a knockout of COG4 in these cells. 4,4438 proteins were identified and quantified and comparative analysis was performed. We utilized 3D cultures for performing secretome analysis to investigate the specific changes caused by p.G516R variant compared to WT and COG4-KO.

2023-03-11 | PXD036151 | Pride

Project description:Human Facial Skin Mycobiomes in Korea Women

| PRJNA627798 | ENA

Project description:Human Facial Skin Microbiomes in Korea Women

| PRJNA627788 | ENA

Gene profiling on mandibular arches (MdPA1) from Tbx1+/+ and Tbx1-/- mouse embryos

Project description:Velo-cardio-facial syndrome/DiGeorge syndrome/22q11.2 deletion syndrome (22q11DS) patients have a submucous cleft palate, velo-pharyngeal insufficiency associated with hypernasal speech, facial muscle hypotonia and feeding difficulties. Inactivation of both alleles of mouse Tbx1, encoding a T-box transcription factor, deleted on 22q11.2, results in a cleft palate and a reduction or loss of branchiomeric muscles. To identify genes downstream of Tbx1 for myogenesis, gene profiling was performed on mandibular arches (MdPA1) from Tbx1+/+ and Tbx1-/- mouse embryos.

2014-05-21 | GSE30980 | GEO

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