Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing<i>GDF6</i>and<i>SDC2</i>and provides insight into systemic sclerosis pathogenesis

Banka, Siddharth; Cain, Stuart A.; Carim, Sabrya; Daly, Sarah B.; Urquhart, Jill; Erdem, Günhan; Harris, Jade; Bottomley, Michelle; Donnai, Dian; Kerr, Bronwyn; Kingston, Helen; Superti-Furga, A; Unger, Sheila; Ennis, Holly; Worthington, Jane; Herrick, Ariane L.; Merry, Catherine L.R.; Yue, Wyatt W.; Kielty, Cay M.; Newman, William G.

doi:10.1136/annrheumdis-2013-204309

Cited by 23 publications

(20 citation statements)

References 51 publications

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“…They showed that GDF6 can work in synergy with BMP in the embryo to regulate patterning of the ectoderm. Additional data were produced by Banka et al [28]. In our experiments, Insulin-like growth factors or somatomedins are a family of peptides that play important roles in mammalian growth and development.…”

Section: Discussionmentioning

confidence: 95%

Role of Antioxidants in Dermal Aging: An In Vitro Study by q-RT-PCR

et al. 2014

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Section: Discussionmentioning

confidence: 95%

Role of Antioxidants in Dermal Aging: An In Vitro Study by q-RT-PCR

et al. 2014

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“…MEF2A, regulated by miR-155, is involved in vertebrate skeletal muscle development and differentiation (31). Another target gene, GDF6, is associated with growth and differentiation of developing embryos, and is involved in early regulation of cell growth and development (32). In the miRNA-target gene network, GDF6 was regulated by several miRNAs, including let-7d.…”

Section: Discussionmentioning

confidence: 99%

Predicting associations between microRNAs and target genes in breast cancer by bioinformatics analyses

et al. 2016

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Abstract. Breast cancer is the leading type of cancer among females. However, the association between microRNAs (miRNAs) and target genes in breast tumorigenesis is poorly studied. The original data set GSE26659 was downloaded from the Gene Expression Omnibus, and then the differentially expressed miRNAs among 77 breast cancer patients and 17 controls were identified using the Limma package in R software. Furthermore, breast cancer-related differentially expressed miRNAs were selected from a human miRNA disease database and their target genes were selected from five miRNA databases. Then, functional analysis was performed for the target genes followed by construction of a miRNA-target gene network. A total of 34 differentially expressed miRNAs were identified, including 13 breast cancer-related miRNAs. Moreover, the target genes of the 13 miRNAs were significantly enriched in regulation of transcription (P=7.43E-09) and pathways related to cancer (P=3.33E-11). Finally, eight upregulated miRNAs (including hsa-miR-425) and five downregulated miRNAs (including hsa-miR-143, hsa-miR-145 and hsa-miR-125b) were identified in the miRNA-target gene network. In conclusion, using bioinformatics approaches, we demonstrate that the changes in regulation of transcription and cancer pathways may play significant roles in the process of breast cancerogenesis. Differentially expressed miRNAs and their target genes may be new targets for breast cancer therapy.

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“…1, 2 Moreover, GAG accumulation was shown to have a role in the bone diseases associated with mucoplysaccharidoses or Leri pleonosteosis. 3, 4 …”

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confidence: 99%

Osteoblastic heparan sulfate glycosaminoglycans control bone remodeling by regulating Wnt signaling and the crosstalk between bone surface and marrow cells

et al. 2017

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Stimulating bone formation is an important challenge for bone anabolism in osteoporotic patients or to repair bone defects. The osteogenic properties of matrix glycosaminoglycans (GAGs) have been explored; however, the functions of GAGs at the surface of bone-forming cells are less documented. Syndecan-2 is a membrane heparan sulfate proteoglycan that is associated with osteoblastic differentiation. We used a transgenic mouse model with high syndecan-2 expression in osteoblasts to enrich the bone surface with cellular GAGs. Bone mass was increased in these transgenic mice. Syndecan-2 overexpression reduced the expression of receptor activator of NF-kB ligand (RANKL) in bone marrow cells and strongly inhibited bone resorption. Osteoblast activity was not modified in the transgenic mice, but bone formation was decreased in 4-month-old transgenic mice because of reduced osteoblast number. Increased proteoglycan expression at the bone surface resulted in decreased osteoblastic and osteoclastic precursors in bone marrow. Indeed, syndecan-2 overexpression increased apoptosis of mesenchymal precursors within the bone marrow. However, syndecan-2 specifically promoted the vasculature characterized by high expression of CD31 and Endomucin in 6-week-old transgenic mice, but this was reduced in 12-week-old transgenic mice. Finally, syndecan-2 functions as an inhibitor of Wnt-β-catenin–T-cell factor signaling pathway, activating glycogen synthase kinase 3 and then decreasing the Wnt-dependent production of Wnt ligands and R-spondin. In conclusion, our results show that GAG supply may improve osteogenesis, but also interfere with the crosstalk between the bone surface and marrow cells, altering the supporting function of osteoblasts.

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Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassingGDF6andSDC2and provides insight into systemic sclerosis pathogenesis

Cited by 23 publications

References 51 publications

Role of Antioxidants in Dermal Aging: An In Vitro Study by q-RT-PCR

Role of Antioxidants in Dermal Aging: An In Vitro Study by q-RT-PCR

Predicting associations between microRNAs and target genes in breast cancer by bioinformatics analyses

Osteoblastic heparan sulfate glycosaminoglycans control bone remodeling by regulating Wnt signaling and the crosstalk between bone surface and marrow cells

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