Zobrazeno 1 - 10
of 274
pro vyhledávání: '"DNA Copy Number Variation"'
Autor:
Marija Debeljak, Soonweng Cho, Bradley M. Downs, Michael Considine, Brittany Avin-McKelvey, Yongchun Wang, Phillip N. Perez, William E. Grizzle, Katherine A. Hoadley, Charles F. Lynch, Brenda Y. Hernandez, Paul J. van Diest, Wendy Cozen, Ann S. Hamilton, Debra Hawes, Edward Gabrielson, Ashley Cimino-Mathews, Liliana D. Florea, Leslie Cope, Christopher B. Umbricht
Publikováno v:
Breast Cancer Research, Vol 26, Iss 1, Pp 1-15 (2024)
Abstract Background Ductal carcinoma in-situ (DCIS) is a pre-invasive form of invasive breast cancer (IBC). Due to improved breast cancer screening, it now accounts for ~ 25% of all breast cancers. While the treatment success rates are over 90%, this
Externí odkaz:
https://doaj.org/article/a106b36b520948e78078f14a3c21f70b
Autor:
Tokimasa Hida, Masashi Idogawa, Junji Kato, Yukiko Kiniwa, Kohei Horimoto, Sayuri Sato, Masahide Sawada, Shoichiro Tange, Masae Okura, Ryuhei Okuyama, Takashi Tokino, Hisashi Uhara
Publikováno v:
Cancer Medicine, Vol 13, Iss 22, Pp n/a-n/a (2024)
ABSTRACT Background Acral and mucosal melanomas are more prevalent in Asians than in Caucasians, unlike cutaneous melanomas, which are predominant in Caucasians. Recent studies have suggested that non‐Caucasian cutaneous melanomas responded less to
Externí odkaz:
https://doaj.org/article/652c93914c344ec983391bfbd33d763b
Autor:
Hisanori Fukunaga, Atsuko Ikeda
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-13 (2023)
Abstract Background Mitochondria have their own circular multi-copy genome (mtDNA), and abnormalities in the copy number are implicated in mitochondrial dysfunction, which contributes to a variety of aging-related pathologies. However, not much is kn
Externí odkaz:
https://doaj.org/article/1b9329fea0bf4dd99bb7d9f8a2153700
Autor:
Miguel Angel Alcántara-Ortigoza, Ana Luisa Rodríguez-Lozano, Bernardette Estandía-Ortega, Ariadna González-del Angel, Luisa Díaz-García, Francisco Eduardo Rivas-Larrauri, Ruth Guadalupe Nájera-Velázquez
Publikováno v:
Children, Vol 11, Iss 6, p 712 (2024)
A ~3-kb deletion-type DNA copy number variation (CNV, esv3587290) located at intron 7 of the VANGL1 gene (1p13.1, MIM*610132) has been proposed as a genetic factor in lupus nephritis (LN) development in adult systemic lupus erythematosus (SLE) patien
Externí odkaz:
https://doaj.org/article/e8acc32dd79e45bb885902435629d9ac
Akademický článek
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Akademický článek
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Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)
Abstract Classification of gliomas involves the combination of histological features with molecular biomarkers to establish an integrated histomolecular diagnosis. Here, we report on the application and validation of a set of molecular assays for gli
Externí odkaz:
https://doaj.org/article/9394523355074114940ed5670e175bb9
Publikováno v:
PeerJ, Vol 11, p e15193 (2023)
Background Diabetes and thyroid dysfunction are two closely related endocrine diseases. Increasing evidences show that gut microbiota plays an important role in both glucose metabolism and thyroid homeostasis. Meanwhile, copy number variation (CNV) o
Externí odkaz:
https://doaj.org/article/c2ece7564f954324b8993cc0b5c48468
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Although epidermoid cysts are frequently seen as benign lesions, they are highly uncommon to develop into cancerous lesions. A 36-year-old man with a cystic mass present on his left flank since childhood presented to our department. Based on the pati
Externí odkaz:
https://doaj.org/article/464ee0ba18b54e9ca231ae1068dd06a3
Publikováno v:
PeerJ, Vol 11, p e14678 (2023)
Background Invasive prenatal evaluation by chromosomal microarray analysis (CMA) and karyotyping might represent an important option in pregnant women, but limited reports have applied CMA and karyotyping of fetuses conceived by assisted reproductive
Externí odkaz:
https://doaj.org/article/89a33deb54b2442ab7a988e140da4fa8