A392V and R945X mutations cause orofacial clefts via impairing PTCH1 function

He, Qun; Hao, Xingke; Bao, Shanying; Wu, Xiantao; Xu, Lei; Hou, Yuxia; Huang, Yingjia; Peng, Leiyuan; Huang, Huimei; Ding, Yi; Zhao, Huaxiang

doi:10.1016/j.ygeno.2022.110507

Cited by 5 publications

(2 citation statements)

References 34 publications

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Section: Hh Pathway In Head and Neck Tissue Formationmentioning

confidence: 99%

“…Orofacial cleft (OFC) is the most common birth defect, with incidence in about 1/500–700 living newborns [ 33 ]. Up until now, genetic studies have revealed 24 mutations in PTCH1 in patients with OFC that lead to the loss of PTCH1 functions [ 33 ]. Dysregulation of the HH pathway results in incomplete fusion of embryonic facial processes and the creation of cleft lips and palates [ 34 ].…”

Section: Hh Pathway In Head and Neck Tissue Formationmentioning

confidence: 99%

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The Role of Hedgehog Signaling Pathway in Head and Neck Squamous Cell Carcinoma

Cierpikowski,

Leszczyszyn,

Bar

2023

Cells

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Head and neck squamous cell carcinoma (HNSCC) is the sixth leading malignancy worldwide, with a poor prognosis and limited treatment options. Molecularly targeted therapies for HNSCC are still lacking. However, recent reports provide novel insights about many molecular alterations in HNSCC that may be useful in future therapies. Therefore, it is necessary to identify new biomarkers that may provide a better prediction of the disease and promising targets for personalized therapy. The poor response of HNSCC to therapy is attributed to a small population of tumor cells called cancer stem cells (CSCs). Growing evidence indicates that the Hedgehog (HH) signaling pathway plays a crucial role in the development and maintenance of head and neck tissues. The HH pathway is normally involved in embryogenesis, stem cell renewal, and tissue regeneration. However, abnormal activation of the HH pathway is also associated with carcinogenesis and CSC regulation. Overactivation of the HH pathway was observed in several tumors, including basal cell carcinoma, that are successfully treated with HH inhibitors. However, clinical studies about HH pathways in HNSCC are still rare. In this review, we summarize the current knowledge and recent advances regarding the HH pathway in HNSCC and discuss its possible implications for prognosis and future therapy.

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Section: Hh Pathway In Head and Neck Tissue Formationmentioning

confidence: 99%