A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate

Liang, Wei; Huang, Wenbin; Sun, Bohui; Zhong, Wenjie; Zhang, Yunfan; Zhang, Jieni; Zhou, Zhibo; Jun, Lin; Chen, Feng

doi:10.1089/gtmb.2021.0111

Cited by 3 publications

(2 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Transcription factor Pax3 plays a major role in the development of multiple neural crest-derived tissues [ 36 , 37 ]. The Pax3 gene variant has been linked to congenital orofacial defect [ 38 ], and its reduced expression has been associated with Sjögren’s syndrome [ 39 ]. Our results show that there was a trend in the increased expression of Pax3 in the experimental cells as compared to control cells ( Figure 7 A).…”

Section: Resultsmentioning

confidence: 99%

Human Oral Mucosa as a Potentially Effective Source of Neural Crest Stem Cells for Clinical Practice

Bardag Gorce,

Al Dahan,

Narwani

et al. 2023

Cells

View full text Add to dashboard Cite

We report in this study on the isolation and expansion of neural crest stem cells (NCSCs) from the epithelium of oral mucosa (OM) using reagents that are GMP-certified and FDA-approved for clinical use. Characterization analysis showed that the levels of keratins K2, K6C, K4, K13, K31, and K15—specific to OM epithelial cells—were significantly lower in the experimental NCSCs. While SOX10 was decreased with no statistically significant difference, the earliest neural crest specifier genes SNAI1/2, Ap2a, Ap2c, SOX9, SOX30, Pax3, and Twist1 showed a trend in increased expression in NCSCs. In addition, proteins of Oct4, Nestin and Noth1 were found to be greatly expressed, confirming NCSC multipotency. In conclusion, our study showed that the epithelium of OM contains NCSCs that can be isolated and expanded with clinical-grade reagents to supply the demand for multipotent cells required for clinical applications in regenerative medicine. Supported by Emmaus Medical Inc.

show abstract

Section: Resultsmentioning

confidence: 99%

Human Oral Mucosa as a Potentially Effective Source of Neural Crest Stem Cells for Clinical Practice

Bardag Gorce,

Al Dahan,

Narwani

et al. 2023

Cells

View full text Add to dashboard Cite

show abstract

“…While PAX3 expression levels were not changed by co-treatment with SE, PAX3 may be regulated by a combination of other miRNAs or through feedback loops (Tsang et al, 2007; mice (Wu et al, 2008). PAX3 mutations in humans are known to be associated with non-syndromic CL/ P (Yoshida et al, 2016;Liang et al, 2021). Downregulation of PAX3 by miR-485-5p and miR-362-3p suppresses the proliferation of human glioma cells (Angelopoulou et al, 2019).…”

Section: Resultsmentioning

confidence: 99%

Sasa veitchii extracts protect phenytoin-induced cell proliferation inhibition in human lip mesenchymal cells through modulation of miR-27b-5p

et al. 2023

View full text Add to dashboard Cite

A cleft lip, with or without a cleft palate, is a common birth defect caused by environmental factors or genetic mutations. Environmental factors, such as pharmaceutical exposure in pregnant women, are known to induce cleft lip, with or without cleft palate in the child. This study aimed to investigate the protective effect of Sasa veitchii extract (SE) on phenytoin-induced inhibition of cell proliferation in human lip mesenchymal cells (KD cells) and human embryonic palatal mesenchymal cells (HEPM cells). We demonstrated that cell proliferation was inhibited by phenytoin in a dose-dependent manner in both KD and HEPM cells. Co-treatment with SE restored phenytoin-induced toxicity in KD cells but did not protect HEPM cells against phenytoin-induced toxicity. Several microRNAs (miR-27b, miR-133b, miR-205, miR-497-5p, and miR-655-3p) is reported to associate with cell proliferation in KD cells. We measured the seven kinds of microRNAs (miR-27b-3p, miR-27b-5p, miR-133b, miR-205-3p, miR-205-5p, miR-497-5p, and miR-655-3p) and found that SE suppressed miR-27b-5p induced by phenytoin in KD cells. Furthermore, co-treatment with SE enhanced the expression of miR-27b-5p downstream genes (PAX9, RARA, and SUMO1). These results suggest that SE protects phenytoin-induced cell proliferation inhibition by modulating miR-27b-5p.

show abstract

Let-7c-5p associate with inhibition of phenobarbital-induced cell proliferation in human palate cells

Tsukiboshi,

Noguchi,

Horita

et al. 2024

Biochemical and Biophysical Research Communications

View full text Add to dashboard Cite

A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate

Cited by 3 publications

References 34 publications

Human Oral Mucosa as a Potentially Effective Source of Neural Crest Stem Cells for Clinical Practice

Human Oral Mucosa as a Potentially Effective Source of Neural Crest Stem Cells for Clinical Practice

<i>Sasa veitchii</i> extracts protect phenytoin-induced cell proliferation inhibition in human lip mesenchymal cells through modulation of <i>miR-27b-5p </i>

Let-7c-5p associate with inhibition of phenobarbital-induced cell proliferation in human palate cells

Contact Info

Product

Resources

About