Zobrazeno 1 - 10
of 1 194
pro vyhledávání: '"GNAQ"'
Publikováno v:
Российский офтальмологический журнал, Vol 17, Iss 3, Pp 52-57 (2024)
Purpose: to analyze the frequency of GNAQ/GNA11 mutations in circulating tumor DNA and tumor tissue, and the frequency of genotypes of polymorphic marker C3435T of ABCB1 gene in patients with iris melanoma. Material and methods. The study included 13
Externí odkaz:
https://doaj.org/article/55e2fe9a99b5499baeb01b9a9f9b0e33
Publikováno v:
Pediatric Investigation, Vol 8, Iss 2, Pp 117-125 (2024)
ABSTRACT Importance Postzygotic mutations in the GNAQ/GNA11 genes, which encode the G‐protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the
Externí odkaz:
https://doaj.org/article/5dab1ae7c81c443fb654760b1029b29e
Autor:
Karina Lissak, Zuzanna Szczepaniak, Agata Konopka, Natalia Wdowiak, Martyna Choinka, Małgorzata Komarów, Dominika Karasińska, Jakub Kalisiak, Mateusz Koralewicz, Milena Orzeł, Bartłomiej Orzeł
Publikováno v:
Quality in Sport, Vol 23 (2024)
Uveal melanoma (UM) is a serious condition requiring immediate medical attention. It is the most common primary intraocular cancer in adults, with an incidence of around 5.2 cases per million people annually. Nearly half of UM patients develop metast
Externí odkaz:
https://doaj.org/article/581b8eacc9e940a5b55fbe3fcf1ca265
Autor:
Sana Nasim, Colette Bichsel, Stephen Dayneka, Robert Mannix, Annegret Holm, Mathew Vivero, Sanda Alexandrescu, Anna Pinto, Arin K. Greene, Donald E. Ingber, Joyce Bischoff
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-13 (2024)
Abstract Sturge-Weber syndrome (SWS), a neurocutaneous disorder, is characterized by capillary malformations (CM) in the skin, brain, and eyes. Patients may suffer from seizures, strokes, and glaucoma, and only symptomatic treatment is available. CM
Externí odkaz:
https://doaj.org/article/c5621ecbee9048b287dc17ebec595daa
Autor:
Yongyun Li, Tianyu Zhu, Jie Yang, Qianqian Zhang, Shiqiong Xu, Shengfang Ge, Renbing Jia, Jianming Zhang, Xianqun Fan
Publikováno v:
Acta Pharmaceutica Sinica B, Vol 14, Iss 3, Pp 1187-1203 (2024)
Constitutive activation of GNAQ/11 is the initiative oncogenic event in uveal melanoma (UM). Direct targeting GNAQ/11 has yet to be proven feasible as they are vital for a plethora of cellular functions. In search of genetic vulnerability for UM, we
Externí odkaz:
https://doaj.org/article/3eb653eb05ac41c1a5eceecc08536f44
Publikováno v:
Российский офтальмологический журнал, Vol 16, Iss 4, Pp 105-112 (2023)
Purpose: to analyze the mutation frequency of the GNAQ/GNA11 gene in circulating tumor DNA and genotypes of the polymorphic marker C3435T of the ABCB1 gene in a large sample of patients with intraocular melanocytic neoplasms (IMN).Material and method
Externí odkaz:
https://doaj.org/article/cd3d374cf23f42479ba088bd23806ab1
Autor:
Chelsea B. Valery, Anne M. Comi
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 3, Pp 186-201 (2023)
Abstract Objectives We summarize the current knowledge of Sturge–Weber syndrome (SWS) including genetic involvement, difficulties in diagnosis, symptoms caused by the vascular malformations, treatments, and future areas of research. Methods PubMed
Externí odkaz:
https://doaj.org/article/a3fbfc5beb2c4f40a2f12e12b3c33a9f
Autor:
Bin Zhang, Rui He, Zigang Xu, Yujuan Sun, Li Wei, Li Li, Yuanxiang Liu, Wu Guo, Li Song, Huijun Wang, Zhimiao Lin, Lin Ma
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number
Externí odkaz:
https://doaj.org/article/f25a13692fb445d09c62c0618cc0d6c1
Akademický článek
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Autor:
Ana Fortuna, Teresa Amaral
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
Acral and mucosal melanoma are uncommon variants of melanoma. Acral melanoma has an age-adjusted incidence of approximately 1.8 cases per million individuals per year, accounting for about 2% to 3% of all melanoma cases. On the other hand, mucosal me
Externí odkaz:
https://doaj.org/article/72135d3520494fbe9dd26db61191f537