葡萄酒色斑的新型GNAQ突变（R183G）：东亚首例病例。 - Suppr

Novel GNAQ mutation(R183G) of Port-wine stains: first case in East Asia.

作者信息

Cai Ren, Gu Hao, Liu Fatao, Wang Lizhen, Zeng Xiaojing, Yu Wenxin, Zhang Xiaolin, Liu Yun, Ma Gang, Lin Xiaoxi

机构信息

Department of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

Department of Laser and Aesthetic Medicine, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

出版信息

Int J Dermatol. 2019 Mar;58(3):e75-e77. doi: 10.1111/ijd.14335. Epub 2018 Dec 30.

DOI:10.1111/ijd.14335

PMID:30597540

Abstract

摘要

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Novel GNAQ mutation(R183G) of Port-wine stains: first case in East Asia.

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Somatic GNAQ mutation in different structures of port-wine macrocheilia.

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The somatic GNAQ mutation (R183Q) is primarily located within the blood vessels of port wine stains.

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Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation.

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Capillary malformation in the midline of the face: Salmon patch or port-wine stain?

J Dermatol. 2018 Nov;45(11):e317-e319. doi: 10.1111/1346-8138.14345. Epub 2018 May 3.

Genetic Variants Associated with Port-Wine Stains.

PLoS One. 2015 Jul 20;10(7):e0133158. doi: 10.1371/journal.pone.0133158. eCollection 2015.

Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report.

J Dermatol. 2020 Jan;47(1):78-81. doi: 10.1111/1346-8138.15130. Epub 2019 Nov 6.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8.

Ultrastructural characterization of hyperactive endothelial cells, pericytes and fibroblasts in hypertrophic and nodular port-wine stain lesions.

Br J Dermatol. 2017 Oct;177(4):e105-e108. doi: 10.1111/bjd.15373. Epub 2017 Aug 24.

引用本文的文献

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

Orphanet J Rare Dis. 2023 Sep 1;18(1):261. doi: 10.1186/s13023-023-02860-w.

Pathogenesis of Port-Wine Stains: Directions for Future Therapies.

Int J Mol Sci. 2022 Oct 12;23(20):12139. doi: 10.3390/ijms232012139.

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Novel GNAQ mutation(R183G) of Port-wine stains: first case in East Asia.

作者信息

Cai Ren, Gu Hao, Liu Fatao, Wang Lizhen, Zeng Xiaojing, Yu Wenxin, Zhang Xiaolin, Liu Yun, Ma Gang, Lin Xiaoxi

机构信息

Department of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

Department of Laser and Aesthetic Medicine, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

出版信息

Int J Dermatol. 2019 Mar;58(3):e75-e77. doi: 10.1111/ijd.14335. Epub 2018 Dec 30.

DOI:10.1111/ijd.14335

PMID:30597540

Abstract

摘要

相似文献

Novel GNAQ mutation(R183G) of Port-wine stains: first case in East Asia.

Int J Dermatol. 2019 Mar;58(3):e75-e77. doi: 10.1111/ijd.14335. Epub 2018 Dec 30.

Somatic GNAQ mutation in different structures of port-wine macrocheilia.

Br J Dermatol. 2018 Nov;179(5):1109-1114. doi: 10.1111/bjd.16830. Epub 2018 Aug 14.

Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.

J Invest Dermatol. 2024 Jun;144(6):1378-1388.e1. doi: 10.1016/j.jid.2023.10.033. Epub 2023 Nov 25.

The somatic GNAQ mutation (R183Q) is primarily located within the blood vessels of port wine stains.

J Am Acad Dermatol. 2016 Feb;74(2):380-3. doi: 10.1016/j.jaad.2015.09.063.

Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation.

Head Neck. 2019 Dec;41(12):4143-4150. doi: 10.1002/hed.25962. Epub 2019 Sep 18.

Capillary malformation in the midline of the face: Salmon patch or port-wine stain?

J Dermatol. 2018 Nov;45(11):e317-e319. doi: 10.1111/1346-8138.14345. Epub 2018 May 3.

Genetic Variants Associated with Port-Wine Stains.

PLoS One. 2015 Jul 20;10(7):e0133158. doi: 10.1371/journal.pone.0133158. eCollection 2015.

Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report.

J Dermatol. 2020 Jan;47(1):78-81. doi: 10.1111/1346-8138.15130. Epub 2019 Nov 6.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8.

Ultrastructural characterization of hyperactive endothelial cells, pericytes and fibroblasts in hypertrophic and nodular port-wine stain lesions.

Br J Dermatol. 2017 Oct;177(4):e105-e108. doi: 10.1111/bjd.15373. Epub 2017 Aug 24.

引用本文的文献

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

Orphanet J Rare Dis. 2023 Sep 1;18(1):261. doi: 10.1186/s13023-023-02860-w.

Pathogenesis of Port-Wine Stains: Directions for Future Therapies.

Int J Mol Sci. 2022 Oct 12;23(20):12139. doi: 10.3390/ijms232012139.

Novel GNAQ mutation(R183G) of Port-wine stains: first case in East Asia.

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Novel GNAQ mutation(R183G) of Port-wine stains: first case in East Asia.

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