Zobrazeno 1 - 10
of 697
pro vyhledávání: '"Recurrent mutations"'
Publikováno v:
Acta Medica Martiniana, Vol 24, Iss 1, Pp 29-41 (2024)
Hematological malignancies represent a heterogeneous group of diseases that may have overlapping clinical manifestations. Successful and optimal management depends on early and accurate diagnosis of the disease. Differential diagnosis therefore requi
Externí odkaz:
https://doaj.org/article/38e3afa1bfda4ef8b4ed9caebcda2263
Autor:
Yochai Wolf, Yardena Sameuls
Publikováno v:
Molecular Oncology, Vol 17, Iss 8, Pp 1457-1459 (2023)
Traditional immunotherapies provide clinical benefits to only a few patients with solid tumors, highlighting the urgent need for more effective approaches. Traditional immunotherapies rely on the presentation of cancer antigens, with neoantigens bein
Externí odkaz:
https://doaj.org/article/8a84f98f392e42ecbedfc3a9a7d09d6a
Autor:
Alicja Ogrodniczak, Janusz Menkiszak, Jacek Gronwald, Joanna Tomiczek-Szwiec, Marek Szwiec, Cezary Cybulski, Tadeusz Dębniak, Tomasz Huzarski, Aleksandra Tołoczko-Grabarek, Tomasz Byrski, Katarzyna Białkowska, Karolina Prajzendanc, Piotr Baszuk, Jan Lubiński, Anna Jakubowska
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-8 (2022)
Abstract Background There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the p
Externí odkaz:
https://doaj.org/article/f58574f1d3e2464bb1b27b149d164bac
Autor:
Le Yu, Dan Zhou, Guiming Zhang, Zhonglu Ren, Xin Luo, Peng Liu, Steven W. Plouffe, Zhipeng Meng, Toshiro Moroishi, Yilei Li, Yiyue Zhang, Joan Heller Brown, Shuwen Liu, Kun‐Liang Guan
Publikováno v:
Molecular Oncology, Vol 16, Iss 3, Pp 607-629 (2022)
Uveal melanoma (UM) is the most common intraocular tumor in adults. Recurrent mutations in BRCA1‐associated protein 1 (BAP1) and splicing factor 3B subunit 1 (SF3B1) display a mutually exclusive pattern in UM, but the underlying mechanism is unknow
Externí odkaz:
https://doaj.org/article/c09dd010f79f452da1fe73b87f2bdbde
Autor:
Chicos Andrei, Negura Lucian, Braescu Rares, Morariu Aliona, Negura Anca, Chicos Andreea, Lupascu Cristian
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 28, Iss 3, Pp 257-266 (2020)
Hereditary predisposition to breast and ovarian cancer (HBOC) is diagnosed by molecular analysis of deleterious mutations in BRCA genes, allowing oncogenetic follow-up of patients and of their families. BRCA testing addresses only to HBOC families, u
Externí odkaz:
https://doaj.org/article/ccefbda8640c41deae956fa748f0c97a
Autor:
Victor Trevino
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 1664-1675 (2020)
In cancer, recurrently mutated sites in DNA and proteins, called hotspots, are thought to be raised by positive selection and therefore important due to its potential functional impact. Although recent evidence for APOBEC enzymatic activity have show
Externí odkaz:
https://doaj.org/article/f7442f96ac374e15bb0ba05ff302157b
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 3567-3576 (2020)
Cancer mutations that are recurrently observed among patients are known as hotspots. Hotspots are highly relevant because they are, presumably, likely functional. Known hotspots in BRAF, PIK3CA, TP53, KRAS, IDH1 support this idea. However, hundreds o
Externí odkaz:
https://doaj.org/article/221c832302124fd9b3f841eca6c9d0eb
Akademický článek
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Autor:
Ainara Ruiz de Sabando, Edurne Urrutia Lafuente, Fermín García-Amigot, Angel Alonso Sánchez, Lourdes Morales Garofalo, Sira Moreno, Eva Ardanaz, Maria A. Ramos-Arroyo
Publikováno v:
BMC Cancer, Vol 19, Iss 1, Pp 1-11 (2019)
Abstract Background Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer (HBOC). The purpose of this study is to analyse the demographic and molecular characteristics
Externí odkaz:
https://doaj.org/article/b873aa7f7d744b26a42509e13404be80
Autor:
Baoheng Gui, Chenxi Yu, Xiaoxin Li, Sen Zhao, Hengqiang Zhao, Zihui Yan, Xi Cheng, Jiachen Lin, Haiyang Zheng, Jiashen Shao, Zhengye Zhao, Lina Zhao, Yuchen Niu, Zhi Zhao, Huizi Wang, Bobo Xie, Xianda Wei, Chunrong Gui, Chuan Li, Shaoke Chen, Yi Wang, Yanning Song, Chunxiu Gong, Terry Jianguo Zhang
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
PurposeROR2, a member of the ROR family, is essential for skeletal development as a receptor of Wnt5a. The present study aims to investigate the mutational spectrum of ROR2 in children with short stature and to identify the underlying molecular mecha
Externí odkaz:
https://doaj.org/article/dedeaba4d25c45a883232970fa5d6644