Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ANTXR2 Deficiency Promotes Cellular Senescence and Chondroid Differentiation in Hyaline Fibromatosis Syndrome Fibroblasts

ABSTRACT: Mutations in anthrax toxin receptor 2 (ANTXR2) cause hyaline fibromatosis syndrome (HFS), a rare genetic disorder marked by subcutaneous nodules filled with amorphous hyaline extracellular material. In addition to these nodules, HFS patients exhibit gingival hypertrophy, joint contractures, osteolytic lesions, and, in severe cases, intractable diarrhea. The mechanisms by which ANTXR2 regulates extracellular matrix (ECM) composition and connective tissue homeostasis remain incompletely understood. Here, we show that dermal fibroblasts from HFS patients exhibit hallmarks of cellular senescence, chondroid differentiation and abnormal ECM deposition. Additionally, HFS dermal fibroblasts are refractory to matrix metalloproteinase (MMP) 2 and 9 activation, potentially explaining phenotypic similarities between HFS and disorders caused by loss-of-function mutations in MMP genes. These findings underscore the essential role of ANTXR2 in maintaining dermal fibroblast identity and connective tissue homeostasis, laying the groundwork for novel therapeutic interventions for HFS.

ORGANISM(S): Homo sapiens

PROVIDER: GSE294791 | GEO | 2025/04/30

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Comparative proteomics of non-nodular and nodular skin tissues from a Hyaline Fibromatosis Syndrome patient.

Project description:Hyaline Fibromatosis Syndrome (HFS) is a rare genetic disorder caused by loss-of-function mutations in the gene CMG2. Patients develop subcutaneous nodules and painful joint contracture. CMG2 is a transmembrane protein of poorly understood physiological function. To understand better the pathogenesis of HFS and the role of CMG2 in this disease, we compared by mass-spectrometry the composition of nodular and matching non-nodular tissues. Two tissue pairs were analyzed, both obtained after surgical resection of nodules from a HFS patient. Our shotgun proteomics analysis showed that nodules were enriched in serum protein, which correlated with previous descriptions of blood vessel leakage in these tissues. Importantly, we also observed a clear accumulation of collagen VI in nodules. Collagen VI accumulation was caused by CMG2 loss-of-function and is the main cause of the nodule formation.

2017-07-07 | PXD006268 | Pride

Hyaline fibromatosis syndrome: cutaneous manifestations.

Project description:Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as "infantile systemic hyalinosis" and "juvenile hyaline fibromatosis". The authors report representative clinical cases of each one of the above subtypes with emphasis on cutaneous manifestations and difficulties for early diagnosis in this syndrome, essentially of multidisciplinary approach.

| S-EPMC4861574 | biostudies-literature

Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder.

Project description:Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form and juvenile hyaline fibromatosis (JHF) being the mild form. Dermatologic manifestations include thickened skin, perianal nodules, and facial papules, gingival hyperplasia, large subcutaneous tumors on the scalp, hyperpigmented plaques over the metacarpophalangeal joints and malleoli, and joint contractures. ISH shows a severe visceral involvement, recurrent infections, and early death. We report a case of 2.5-year-old female patient who presented with HFS who had overlapping features of both ISH and JHF. To the best of our knowledge, very few cases of HFS have been reported in Indian literature till date.

| S-EPMC5029258 | biostudies-literature

Solar simulated ultraviolet radiation induces histone 3 methylation changes in the gene promoters of matrix metalloproteinases 1 and 3 in primary human dermal fibroblasts [II]

Project description:Skin damage from solar ultraviolet radiation (UVR) accumulates in the dermal extracellular matrix (ECM) and contributes to photoaging. Following UVR exposure, matrix metalloproteinases (MMPs) are secreted by dermal fibroblasts to repair and remodel the ECM. Molecular signaling pathways delineating the induction of MMPs are currently well-defined; however, the effects of UV exposure on epigenetic mechanisms of MMP induction are not as well understood. An epigenetic mechanism would further describe how MMP genes are regulated in response to UV. In this study, we examined solar simulated UVR (ssUVR)-induced gene expression changes and alterations to histone methylation in the promoters of MMP1 and MMP3 in primary human dermal fibroblasts (HDF). This set of gene expression data was generated to identify photoaging related genes (including MMP) that were impacted by ssUVR exposure in our system. Primary neonatal human dermal fibroblasts (HDF) were irradiated a single time with 12 J/cm2 ssUVR. The sham treatments are negative controls (0 J/cm2 ssUVR). The cells were collected for gene expression analysis 1 day after exposure, and then 5 days after exposure. Affymetrix GeneChip Human Exon 1.0 ST arrays were used to characterize gene expression pattern alterations in response to ssUVR.

2014-08-27 | E-GEOD-60795 | biostudies-arrayexpress

Solar simulated ultraviolet radiation induces histone 3 methylation changes in the gene promoters of matrix metalloproteinases 1 and 3 in primary human dermal fibroblasts [I]

Project description:Skin damage from solar ultraviolet radiation (UVR) accumulates in the dermal extracellular matrix (ECM) and contributes to photoaging. Following UVR exposure, matrix metalloproteinases (MMPs) are secreted by dermal fibroblasts to repair and remodel the ECM. Molecular signaling pathways delineating the induction of MMPs are currently well-defined; however, the effects of UV exposure on epigenetic mechanisms of MMP induction are not as well understood. An epigenetic mechanism would further describe how MMP genes are regulated in response to UV. In this study, we examined solar simulated UVR (ssUVR)-induced gene expression changes and alterations to histone methylation in the promoters of MMP1 and MMP3 in primary human dermal fibroblasts (HDF). This set of gene expression data was generated to identify photoaging related genes (including MMP) that were impacted by ssUVR exposure in our system. Primary neonatal human dermal fibroblasts (HDF) were irradiated a single time with 0, 4, or 12 J/cm2 ssUVR. The sham treatments are negative controls (0 J/cm2 ssUVR). The cells were collected for gene expression analysis 24 hours after exposure. Affymetrix GeneChip Human Exon 1.0 ST arrays were used to characterize gene expression pattern alterations in response to ssUVR.

2014-08-27 | E-GEOD-60794 | biostudies-arrayexpress

Solar simulated ultraviolet radiation induces histone 3 methylation changes in the gene promoters of matrix metalloproteinases 1 and 3 in primary human dermal fibroblasts [I]

2014-08-27 | GSE60794 | GEO

Solar simulated ultraviolet radiation induces histone 3 methylation changes in the gene promoters of matrix metalloproteinases 1 and 3 in primary human dermal fibroblasts [II]

2014-08-27 | GSE60795 | GEO

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

Project description:Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition characterized by multiple subcutaneous nodular tumors, gingival fibromatosis, flexion contractures of the joints, and an accumulation of hyaline in the dermis. We performed a genomewide linkage search in two families with JHF from the same region of the Indian state of Gujarat and identified a region of homozygosity on chromosome 4q21. Dense microsatellite analyses within this interval in five families with JHF who were from diverse origins demonstrate that all are compatible with linkage to chromosome 4q21 (multipoint LOD score 5.5). Meiotic recombinants place the gene for JHF within a 7-cM interval bounded by D4S2393 and D4S395.

| S-EPMC378553 | biostudies-literature

Microarray analysis of lncRNAs and mRNAs in the process of human hyaline chondrocyte dedifferentiation in vitro

Project description:Autologous chondrocyte implantation (ACI) is an effective method to treat chronic articular cartilage injury in recent years, which requires a large number of human hyaline chondrocytes. Unfortunately, human hyaline chondrocytes often undergo dedifferentiation in vitro. Thus, it is important to elucidate the mechanism of dedifferentiation for the application of ACI technology. Long noncoding RNAs (lncRNA) play a regulatory role in gene expression in many pathological and physiological processes. However, the role of lncRNAs in human hyaline chondrocyte dedifferentiation remains unclear. The aim of this study was to investigate the expression profiles of lncRNAs in human hyaline chondrocyte dedifferentiation during in vitro culture. First, we cultured human hyaline chondrocytes in vitro and detected the expression of COL1A1, COL2A1, and SOX-9 in passage 1 (P1) and 5 (P5) chondrocytes using quantitative real-time polymerase chain reaction (qRT-PCR), immunofluorescence, and western blotting. Then, we analyzed the expression profiles of lncRNAs and mRNAs in P1 and P5 chondrocytes by microarray analysis.

2020-02-25 | GSE145817 | GEO

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.

Project description:BackgroundHyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesions, gingival hyperplasia, joint and bone disease, and systemic involvement.MethodsBased on the case of an 11-year-old female patient with typical features of hyaline fibromatosis syndrome and the underlying pathogenic compound heterozygote variants in ANTXR2 we discuss the genetic and clinical aspects of hyaline fibromatosis syndrome.ResultsThe novel mutation in ANTXR2 (c.1223T>C, p.Leu408Pro variant) seems to allow for a protracted course of the disease.ConclusionOur findings add to the phenotypic, genetic, and biochemical spectrum of hyaline fibromatosis syndrome.

| S-EPMC7284039 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data