Novel <scp> <i>SOS1</i> </scp> Mutations Associated With Hereditary Gingival Fibromatosis and Dual‐Gated Model for <scp>SOS1</scp> Activation

Our study identified two novel SOS1 mutations, c.3262dupA/p.Thr1088fs and c.1523A>G/p.Asn508Ser, in two unrelated Han Chinese families with non-syndromic HGF. A novel "Dual-Gated Model" was proposed to elucidate the full activation process of wild-type and truncated SOS1. We extended the mutational spectrum of SOS1 in non-syndromic HGF and provided new insights on the molecular mechanism of pathogenesis.

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Publication Details

Journal
Journal of Oral Pathology and Medicine
Published
2025-11-25
DOI
https://doi.org/10.1111/jop.70080
Primary Topic
Oral and gingival health research
Type
article
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article

Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual‐Gated Model for SOS1 Activation

Nuo Xu, Qian Gao, Zhuan Bian, Xiaona Song et al.
Journal of Oral Pathology and Medicine
Oral and gingival health research
article

Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual‐Gated Model for SOS1 Activation

Nuo Xu, Qian Gao, Zhuan Bian, Xiaona Song, Kai S. Yang, Chengcan Yang
article en

Abstract

Our study identified two novel SOS1 mutations, c.3262dupA/p.Thr1088fs and c.1523A>G/p.Asn508Ser, in two unrelated Han Chinese families with non-syndromic HGF. A novel "Dual-Gated Model" was proposed to elucidate the full activation process of wild-type and truncated SOS1. We extended the mutational spectrum of SOS1 in non-syndromic HGF and provided new insights on the molecular mechanism of pathogenesis.

Journal of Oral Pathology and MedicineVol. 55(3)
Wuhan University (CN)
Openalex Percentile: Top 46%
Oral and gingival health research
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